Unique variants in gene KALRN

Information The variants shown are described using the NM_003947.4 transcript reference sequence.

108 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.67+37910C>T r.(=) p.(=) g.123851661C>T - KALRN_000001 rs146204622 0.001946 1 514 1936 - - Admin
./. 1 - c.67+38041C>G r.(=) p.(=) g.123851792C>G - KALRN_000002 rs80038878 0.007752 4 516 5907 - - Admin
./. 1 - c.67+38137C>T r.(=) p.(=) g.123851888C>T - KALRN_000003 rs60763759 0.012 6 516 3151 - - Admin
./. 1 - c.67+38162C>T r.(=) p.(=) g.123851913C>T - KALRN_000004 rs144075345 0.001938 1 516 2498 - - Admin
./. 1 - c.67+38221G>A r.(=) p.(=) g.123851972G>A - KALRN_000005 rs7627646 0.574 233 406 1060 - - Admin
./. 1 - c.126G>A r.(=) p.(=) g.123946895G>A - KALRN_000006 rs2293641 0.085 44 516 6910 - - Admin
./. 1 - c.142+52G>A r.(=) p.(=) g.123946963G>A - KALRN_000007 rs2293640 0.025 13 516 6850 - - Admin
./. 1 - c.142+76G>A r.(=) p.(=) g.123946987G>A - KALRN_000008 rs1008993280 0.001938 1 516 5834 1 - Admin
./. 1 - c.143-150C>T r.(=) p.(=) g.123953526C>T - KALRN_000009 rs13079305 0.062 32 516 4522 - - Admin
./. 1 - c.143-44C>T r.(=) p.(=) g.123953632C>T - KALRN_000010 rs201532302 0.003876 2 516 9056 - - Admin
./. 1 - c.143-6T>G r.(=) p.(=) g.123953670T>G - KALRN_000011 rs79989730 0.012 6 516 9324 - - Admin
./. 1 - c.257+25_257+26insG r.(=) p.(=) g.123953815_123953816insG - KALRN_000012 rs780400324 - - - - - - Admin
./. 1 - c.450+67C>T r.(=) p.(=) g.123983604C>T - KALRN_000014 rs2276739 0.182 94 516 4198 - - Admin
./. 1 - c.450+83T>C r.(=) p.(=) g.123983620T>C - KALRN_000016 - 0.001938 1 516 3094 1 - Admin
./. 1 - c.450+84A>G r.(=) p.(=) g.123983621A>G - KALRN_000018 rs895467752 0.003876 2 516 3087 2 - Admin
./. 1 - c.451-175A>G r.(=) p.(=) g.123987415A>G - KALRN_000020 rs547498220 0.002137 1 468 3020 - - Admin
./. 1 - c.451-94A>G r.(=) p.(=) g.123987496A>G - KALRN_000022 rs73188176 0.00969 5 516 6075 - - Admin
./. 1 - c.453G>A r.(=) p.(=) g.123987592G>A - KALRN_000024 rs61738702 0.007752 4 516 8994 - - Admin
./. 1 - c.888C>T r.(=) p.(=) g.123988027C>T - KALRN_000026 rs146360002 0.003876 2 516 8029 - - Admin
./. 1 - c.900T>C r.(=) p.(=) g.123988039T>C - KALRN_000028 rs2272486 0.649 335 516 8233 - - Admin
./. 1 - c.964-88G>A r.(=) p.(=) g.124017550G>A - KALRN_000030 rs140655489 0.003876 2 516 6638 - - Admin
./. 1 - c.1056G>A r.(=) p.(=) g.124017730G>A - KALRN_000032 rs115909373 0.003876 2 516 8082 - - Admin
./. 1 - c.1086+28G>A r.(=) p.(=) g.124017788G>A - KALRN_000034 rs116132373 0.003876 2 516 4413 - - Admin
./. 1 - c.1087-114C>T r.(=) p.(=) g.124044713C>T - KALRN_000036 rs41264649 0.003891 2 514 2385 - - Admin
./. 1 - c.1087-113G>A r.(=) p.(=) g.124044714G>A - KALRN_000038 rs140983272 0.005814 3 516 2410 - - Admin
./. 1 - c.1087-28C>T r.(=) p.(=) g.124044799C>T - KALRN_000040 rs373714890 0.001938 1 516 7108 - - Admin
./. 1 - c.1119C>T r.(=) p.(=) g.124044859C>T - KALRN_000042 rs16835275 0.00969 5 516 9351 - - Admin
./. 1 - c.1209C>T r.(=) p.(=) g.124044949C>T - KALRN_000044 rs2289778 0.808 417 516 12796 - - Admin
./. 1 - c.1278+84_1278+85del r.(=) p.(=) g.124045102_124045103del - KALRN_000046 rs3217540 0.808 417 516 12796 - - Admin
./. 1 - c.1335C>T r.(=) p.(=) g.124048764C>T - KALRN_000013 rs2276740 0.107 55 516 8613 - - Admin
./. 1 - c.1411-167C>T r.(=) p.(=) g.124052945C>T - KALRN_000015 rs7340609 0.039 20 516 2070 - - Admin
./. 1 - c.1434A>G r.(=) p.(=) g.124053135A>G - KALRN_000017 - 0.001938 1 516 8912 1 - Admin
./. 1 - c.1641+20G>A r.(=) p.(=) g.124053362G>A - KALRN_000019 rs201460189 0.001938 1 516 4807 - - Admin
./. 1 - c.1641+50C>T r.(=) p.(=) g.124053392C>T - KALRN_000021 rs7340614 0.033 17 516 3281 - - Admin
./. 1 - c.1642-103G>A r.(=) p.(=) g.124065887G>A - KALRN_000023 rs12496590 0.001946 1 514 3031 - - Admin
./. 1 - c.1642-36A>G r.(=) p.(=) g.124065954A>G - KALRN_000025 - 0.001938 1 516 6563 1 - Admin
./. 1 - c.1642-29C>A r.(=) p.(=) g.124065961C>A - KALRN_000027 - 0.001938 1 516 6979 1 - Admin
./. 1 - c.1764+10_1764+35del r.(=) p.(=) g.124066122_124066147del - KALRN_000029 rs747094682 0.001938 1 516 6979 - - Admin
./. 1 - c.1764+26_1764+35del r.(=) p.(=) g.124066138_124066147del - KALRN_000031 rs747094682 0.001938 1 516 6979 - - Admin
./. 1 - c.1764+28_1764+35del r.(=) p.(=) g.124066140_124066147del - KALRN_000033 rs747094682 0.001938 1 516 6979 - - Admin
./. 1 - c.1764+30_1764+35del r.(=) p.(=) g.124066142_124066147del - KALRN_000035 rs747094682 0.001938 1 516 6979 - - Admin
./. 1 - c.1764+30_1764+35dup r.(=) p.(=) g.124066142_124066147dup - KALRN_000037 rs747094682 0.001938 1 516 6979 - - Admin
./. 1 - c.1764+34_1764+35dup r.(=) p.(=) g.124066146_124066147dup - KALRN_000039 rs747094682 0.001938 1 516 6979 - - Admin
./. 1 - c.1956+7G>A r.(=) p.(=) g.124103890G>A - KALRN_000041 rs191206396 0.001938 1 516 8719 - - Admin
./. 1 - c.1957-53A>T r.(=) p.(=) g.124113929A>T - KALRN_000043 rs482285 0.773 399 516 5799 - - Admin
./. 1 - c.2043G>A r.(=) p.(=) g.124114068G>A - KALRN_000045 rs9841322 0.155 80 516 10599 - - Admin
./. 1 - c.2165+46C>T r.(=) p.(=) g.124114236C>T - KALRN_000047 rs114674371 0.012 6 516 3806 - - Admin
./. 1 - c.2166-61C>T r.(=) p.(=) g.124117483C>T - KALRN_000048 rs77766547 0.001938 1 516 6424 - - Admin
./. 1 - c.2166-29C>T r.(=) p.(=) g.124117515C>T - KALRN_000050 rs59190422 0.001938 1 516 7522 - - Admin
./. 1 - c.2171C>T r.(?) p.(Ser724Leu) g.124117549C>T - KALRN_000052 rs145790621 0.005814 3 516 7775 - - Admin
./. 1 - c.2341-3450A>C r.(=) p.(=) g.124128867A>C - KALRN_000054 rs3755663 0.007968 4 502 1132 - - Admin
./. 1 - c.2341-3379A>G r.(=) p.(=) g.124128938A>G - KALRN_000057 rs647010 1 516 516 3382 - - Admin
./. 1 - c.2341-3340T>C r.(=) p.(=) g.124128977T>C - KALRN_000059 rs79356917 0.005814 3 516 5449 - - Admin
./. 1 - c.2341-3332C>T r.(=) p.(=) g.124128985C>T - KALRN_000061 rs76698357 0.005814 3 516 5817 - - Admin
./. 1 - c.2341-3276C>G r.(=) p.(=) g.124129041C>G - KALRN_000049 rs138113158 0.005814 3 516 6646 - - Admin
./. 1 - c.2341-3249C>T r.(=) p.(=) g.124129068C>T - KALRN_000051 rs115596096 0.001938 1 516 6276 - - Admin
./. 1 - c.2341-3222G>T r.(=) p.(=) g.124129095G>T - KALRN_000053 rs200226982 0.001938 1 516 5897 - - Admin
./. 1 - c.2341-54A>T r.(=) p.(=) g.124132263A>T - KALRN_000055 rs2289846 0.411 212 516 10453 - - Admin
./. 1 - c.2341-22G>T r.(=) p.(=) g.124132295G>T - KALRN_000056 rs143315847 0.003876 2 516 9525 - - Admin
./. 1 - c.2537-25A>T r.(=) p.(=) g.124141634A>T - KALRN_000058 rs187814937 0.003891 2 514 2456 - - Admin
./. 1 - c.2537-16_2537-15insT r.(=) p.(=) g.124141643_124141644insT - KALRN_000060 rs200776522 - - - - - - Admin
./. 1 - c.2704-197A>C r.(=) p.(=) g.124149306A>C - KALRN_000062 rs1005103 0.036 18 494 2521 - - Admin
./. 1 - c.2823+35C>T r.(=) p.(=) g.124149657C>T - KALRN_000063 rs79193285 0.031 16 516 4027 - - Admin
./. 1 - c.2823+53C>G r.(=) p.(=) g.124149675C>G - KALRN_000065 rs140662889 0.001946 1 514 3171 - - Admin
./. 1 - c.2920G>A r.(?) p.(Ala974Thr) g.124153250G>A - KALRN_000067 rs139299626 0.001938 1 516 5434 - - Admin
./. 1 - c.2961C>T r.(=) p.(=) g.124153291C>T - KALRN_000069 rs144113221 0.001938 1 516 7491 - - Admin
./. 1 - c.3042+25G>C r.(=) p.(=) g.124153397G>C - KALRN_000071 rs201272171 0.001938 1 516 6121 - - Admin
./. 1 - c.3114G>A r.(=) p.(=) g.124157806G>A - KALRN_000073 rs2289837 0.005814 3 516 8957 - - Admin
./. 1 - c.3153C>T r.(=) p.(=) g.124157845C>T - KALRN_000075 rs747176238 0.001938 1 516 9065 - - Admin
./. 1 - c.3192+85_3192+100del r.(=) p.(=) g.124157969_124157984del - KALRN_000077 rs1483120901 0.001938 1 516 6979 1 - Admin
./. 1 - c.3192+121_3192+122del r.(=) p.(=) g.124158005_124158006del - KALRN_000079 rs199999207 0.001938 1 516 9065 - - Admin
./. 1 - c.3193-5C>T r.spl? p.? g.124160787C>T - KALRN_000081 rs367903121 0.001938 1 516 5155 - - Admin
./. 1 - c.3307+43G>A r.(=) p.(=) g.124160949G>A - KALRN_000083 rs376477689 0.001938 1 516 7374 - - Admin
./. 1 - c.3423+80G>A r.(=) p.(=) g.124165203G>A - KALRN_000085 rs141820091 0.003876 2 516 7178 - - Admin
./. 1 - c.3423+94G>A r.(=) p.(=) g.124165217G>A - KALRN_000087 rs624450 0.368 190 516 6279 - - Admin
./. 1 - c.3423+146T>C r.(=) p.(=) g.124165269T>C - KALRN_000089 - 0.001953 1 512 3092 1 - Admin
./. 1 - c.3424-4A>T r.spl? p.? g.124165606A>T - KALRN_000091 rs77701768 0.007752 4 516 4431 - - Admin
./. 1 - c.3488C>A r.(?) p.(Thr1163Asn) g.124165674C>A - KALRN_000093 rs199727098 0.001938 1 516 4540 - - Admin
./. 1 - c.3585C>T r.(=) p.(=) g.124174062C>T - KALRN_000095 rs61747979 0.019 10 516 9137 - - Admin
./. 1 - c.3730-197_3730-194del r.(=) p.(=) g.124175260_124175263del - KALRN_000064 rs147105507 0.001953 1 512 3092 1 - Admin
./. 1 - c.3849-56A>G r.(=) p.(=) g.124180681A>G - KALRN_000066 rs182578779 0.001938 1 516 3883 - - Admin
./. 1 - c.3915+125C>T r.(=) p.(=) g.124180928C>T - KALRN_000068 - 0.001938 1 516 4699 1 - Admin
./. 1 - c.3915+142del r.(=) p.(=) g.124180945del - KALRN_000070 rs1329591534 0.001938 1 516 4699 1 - Admin
./. 1 - c.3916-110C>T r.(=) p.(=) g.124181261C>T - KALRN_000072 rs535121 0.126 65 516 3688 - - Admin
./. 1 - c.3999C>T r.(=) p.(=) g.124181454C>T - KALRN_000074 rs2289839 0.072 37 516 3841 - - Admin
./. 1 - c.4025+74A>G r.(=) p.(=) g.124181554A>G - KALRN_000076 rs78944687 0.004149 2 482 1008 - - Admin
./. 1 - c.4026-223_4026-220del r.(=) p.(=) g.124193287_124193290del - KALRN_000078 rs10576467 0.001938 1 516 4699 1 - Admin
./. 1 - c.4026-210_4026-206del r.(=) p.(=) g.124193300_124193304del - KALRN_000080 rs376610602 0.004149 2 482 1008 - - Admin
./. 1 - c.4095+108A>G r.(=) p.(=) g.124193687A>G - KALRN_000082 rs140554145 0.002066 1 484 958 - - Admin
./. 1 - c.4095+115G>A r.(=) p.(=) g.124193694G>A - KALRN_000084 rs79234982 0.002083 1 480 933 - - Admin
./. 1 - c.4096-105T>C r.(=) p.(=) g.124195987T>C - KALRN_000086 rs572145 0.992 478 482 1789 - - Admin
./. 1 - c.4098A>T r.(=) p.(=) g.124196094A>T - KALRN_000088 rs2289843 0.12 62 516 7460 - - Admin
./. 1 - c.4185+58del r.(=) p.(=) g.124196239del - KALRN_000090 rs3214750 0.001938 1 516 4699 1 - Admin
./. 1 - c.4185+135_4185+136insA r.(=) p.(=) g.124196316_124196317insA - KALRN_000092 rs3214749 - - - - - - Admin
./. 1 - c.4230C>T r.(=) p.(=) g.124201699C>T - KALRN_000094 rs61740058 0.00969 5 516 6455 - - Admin
./. 1 - c.4278+81G>A r.(=) p.(=) g.124201828G>A - KALRN_000096 rs185859904 0.005906 3 508 1446 - - Admin
./. 1 - c.4279-102T>C r.(=) p.(=) g.124206949T>C - KALRN_000097 rs187418223 0.003876 2 516 3058 - - Admin
./. 1 - c.4581+94C>T r.(=) p.(=) g.124209825C>T - KALRN_000099 rs75598147 0.021 11 516 3212 - - Admin
./. 1 - c.4582-65C>T r.(=) p.(=) g.124210105C>T - KALRN_000100 rs182859458 0.007813 4 512 2199 - - Admin
./. 1 - c.4683+70C>G r.(=) p.(=) g.124210341C>G - KALRN_000101 rs79331099 0.012 6 516 6832 - - Admin
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