Unique variants in gene LRSAM1

Information The variants shown are described using the NM_138361.5 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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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.72+73G>T r.(=) p.(=) g.130216951G>T - LRSAM1_000001 rs2244218 0.422 217 514 2257 - - Admin
./. 1 - c.73-30A>C r.(=) p.(=) g.130217247A>C - LRSAM1_000002 rs7851331 0.027 14 516 2809 - - Admin
./. 1 - c.129+117C>T r.(=) p.(=) g.130217450C>T - LRSAM1_000003 rs116885615 0.001938 1 516 4600 - - Admin
./. 1 - c.129+128C>T r.(=) p.(=) g.130217461C>T - LRSAM1_000004 rs113996142 0.001938 1 516 4009 - - Admin
./. 1 - c.129+193_129+194insA r.(=) p.(=) g.130217526_130217527insA - LRSAM1_000005 rs199681048 - - - - - - Admin
./. 1 - c.175-134C>T r.(=) p.(=) g.130219461C>T - LRSAM1_000006 rs113052336 0.001976 1 506 2114 - - Admin
./. 1 - c.249C>T r.(=) p.(=) g.130219669C>T - LRSAM1_000007 rs2243906 0.599 309 516 8601 - - Admin
./. 1 - c.252+51G>A r.(=) p.(=) g.130219723G>A - LRSAM1_000008 rs142333739 0.001938 1 516 4498 - - Admin
./. 1 - c.252+71T>C r.(=) p.(=) g.130219743T>C - LRSAM1_000009 rs2243903 0.593 306 516 3700 - - Admin
./. 1 - c.252+134T>C r.(=) p.(=) g.130219806T>C - LRSAM1_000010 rs145947414 0.006073 3 494 1533 - - Admin
./. 1 - c.253-98G>A r.(=) p.(=) g.130221184G>A - LRSAM1_000011 rs115106486 0.00969 5 516 5736 - - Admin
./. 1 - c.253-81C>G r.(=) p.(=) g.130221201C>G - LRSAM1_000012 - 0.001938 1 516 6828 1 - Admin
./. 1 - c.253-28G>A r.(=) p.(=) g.130221254G>A - LRSAM1_000013 rs374043025 0.001938 1 516 9130 - - Admin
./. 1 - c.321+38T>C r.(=) p.(=) g.130221388T>C - LRSAM1_000014 rs2243767 0.599 309 516 6468 - - Admin
./. 1 - c.322-51G>A r.(=) p.(=) g.130223401G>A - LRSAM1_000015 rs182192023 0.001946 1 514 2600 - - Admin
./. 1 - c.406+24G>A r.(=) p.(=) g.130223560G>A - LRSAM1_000016 rs117528271 0.001938 1 516 3831 - - Admin
./. 1 - c.407-35T>G r.(=) p.(=) g.130224496T>G - LRSAM1_000017 rs141724747 0.001938 1 516 7525 - - Admin
./. 1 - c.528+77T>C r.(=) p.(=) g.130224729T>C - LRSAM1_000018 rs144681769 0.003876 2 516 6176 - - Admin
./. 1 - c.528+133G>C r.(=) p.(=) g.130224785G>C - LRSAM1_000019 rs75130020 0.00969 5 516 3997 - - Admin
./. 1 - c.529-43C>T r.(=) p.(=) g.130229976C>T - LRSAM1_000020 rs369816812 0.001938 1 516 9343 - - Admin
./. 1 - c.548C>T r.(?) p.(Ser183Leu) g.130230038C>T - LRSAM1_000021 rs75690855 0.023 12 516 9489 - - Admin
./. 1 - c.586G>A r.(?) p.(Gly196Ser) g.130230076G>A - LRSAM1_000022 rs148059394 0.001938 1 516 8400 - - Admin
./. 1 - c.619+100C>T r.(=) p.(=) g.130230209C>T - LRSAM1_000023 rs759232309 0.001938 1 516 3346 - - Admin
./. 1 - c.720C>G r.(?) p.(Asp240Glu) g.130236180C>G - LRSAM1_000024 rs150820300 0.001938 1 516 9247 - - Admin
./. 1 - c.750+33G>A r.(=) p.(=) g.130236243G>A - LRSAM1_000025 rs2250267 0.424 219 516 8036 - - Admin
./. 1 - c.780+80G>T r.(=) p.(=) g.130241322G>T - LRSAM1_000026 rs61016254 0.005814 3 516 7925 - - Admin
./. 1 - c.780+132_780+133insCA r.(=) p.(=) g.130241374_130241375insCA - LRSAM1_000027 rs397773513 - - - - - - Admin
./. 1 - c.780+156C>T r.(=) p.(=) g.130241398C>T - LRSAM1_000028 rs953420227 0.001938 1 516 5430 1 - Admin
./. 1 - c.781-126T>C r.(=) p.(=) g.130241536T>C - LRSAM1_000029 rs182807538 0.001938 1 516 4681 - - Admin
./. 1 - c.822G>A r.(=) p.(=) g.130241703G>A - LRSAM1_000030 rs146079606 0.001938 1 516 6875 - - Admin
./. 1 - c.836G>A r.(?) p.(Arg279Gln) g.130241717G>A - LRSAM1_000031 rs372357453 0.001938 1 516 6227 - - Admin
./. 1 - c.903+38T>C r.(=) p.(=) g.130241822T>C - LRSAM1_000032 rs1539569 0.737 370 502 1939 - - Admin
./. 1 - c.904-67C>T r.(=) p.(=) g.130242051C>T - LRSAM1_000033 rs56160932 0.001969 1 508 1528 - - Admin
./. 1 - c.904-9C>T r.(=) p.(=) g.130242109C>T - LRSAM1_000034 rs1539568 0.424 219 516 3778 - - Admin
./. 1 - c.952A>G r.(?) p.(Asn318Asp) g.130242166A>G - LRSAM1_000035 rs1539567 0.758 391 516 9386 - - Admin
./. 1 - c.965A>G r.(?) p.(Gln322Arg) g.130242179A>G - LRSAM1_000036 rs56380300 0.001938 1 516 9270 - - Admin
./. 1 - c.1044-9T>C r.(=) p.(=) g.130243453T>C - LRSAM1_000037 rs59501881 0.001938 1 516 3362 - - Admin
./. 1 - c.1046A>G r.(?) p.(Gln349Arg) g.130243464A>G - LRSAM1_000038 rs200595164 0.001938 1 516 3309 - - Admin
./. 1 - c.1088+29del r.(=) p.(=) g.130243535del - LRSAM1_000039 rs371152397 0.001938 1 516 3309 - - Admin
./. 1 - c.1088+114C>T r.(=) p.(=) g.130243620C>T - LRSAM1_000040 rs10819297 0.092 29 314 370 - - Admin
./. 1 - c.1160-125G>T r.(=) p.(=) g.130247890G>T - LRSAM1_000041 rs73590855 0.005814 3 516 4279 - - Admin
./. 1 - c.1259+66G>A r.(=) p.(=) g.130248180G>A - LRSAM1_000042 rs536034722 0.001938 1 516 4199 - - Admin
./. 1 - c.1348-211G>A r.(=) p.(=) g.130251512G>A - LRSAM1_000043 rs2245677 0.417 215 516 3500 - - Admin
./. 1 - c.1348-108C>A r.(=) p.(=) g.130251615C>A - LRSAM1_000044 rs10987668 0.205 106 516 9926 - - Admin
./. 1 - c.1348-34G>A r.(=) p.(=) g.130251689G>A - LRSAM1_000045 rs55828933 0.033 17 516 9805 - - Admin
./. 1 - c.1368G>A r.(=) p.(=) g.130251743G>A - LRSAM1_000046 rs34426300 0.005814 3 516 9299 - - Admin
./. 1 - c.1422+39_1422+40del r.(=) p.(=) g.130251836_130251837del - LRSAM1_000047 rs3053015 0.001938 1 516 5430 1 - Admin
./. 1 - c.1422+127G>T r.(=) p.(=) g.130251924G>T - LRSAM1_000048 rs147744543 0.001938 1 516 1793 - - Admin
./. 1 - c.1422+129C>T r.(=) p.(=) g.130251926C>T - LRSAM1_000049 rs113022868 0.003891 2 514 1681 - - Admin
./. 1 - c.1423-208_1423-207insA r.(=) p.(=) g.130253286_130253287insA - LRSAM1_000050 rs5900748 - - - - - - Admin
./. 1 - c.1423-140G>A r.(=) p.(=) g.130253354G>A - LRSAM1_000051 rs79366656 0.005814 3 516 2735 - - Admin
./. 1 - c.1423-32_1423-31insA r.(=) p.(=) g.130253462_130253463insA - LRSAM1_000052 rs763624714 - - - - - - Admin
./. 1 - c.1503+90C>A r.(=) p.(=) g.130253664C>A - LRSAM1_000053 rs143059886 0.003984 2 502 1211 - - Admin
./. 1 - c.1600-133A>C r.(=) p.(=) g.130257466A>C - LRSAM1_000054 rs550981758 0.002024 1 494 1029 - - Admin
./. 1 - c.1600-106A>G r.(=) p.(=) g.130257493A>G - LRSAM1_000055 rs151329660 0.001961 1 510 1372 - - Admin
./. 1 - c.1600-32G>A r.(=) p.(=) g.130257567G>A - LRSAM1_000056 rs367882167 0.001938 1 516 4420 - - Admin
./. 1 - c.1699-184C>T r.(=) p.(=) g.130258059C>T - LRSAM1_000057 rs1033533503 0.001938 1 516 2943 1 - Admin
./. 1 - c.1699-168G>A r.(=) p.(=) g.130258075G>A - LRSAM1_000058 rs76576041 0.012 6 516 3208 - - Admin
./. 1 - c.1699-165_1699-162del r.(=) p.(=) g.130258078_130258081del - LRSAM1_000059 rs554034484 0.012 6 516 3208 - - Admin
./. 1 - c.1699-83A>T r.(=) p.(=) g.130258160A>T - LRSAM1_000060 rs2249052 0.421 217 516 5202 - - Admin
./. 1 - c.1699-15G>A r.(=) p.(=) g.130258228G>A - LRSAM1_000061 rs767459848 0.001938 1 516 8432 - - Admin
./. 1 - c.1830+6C>T r.(=) p.(=) g.130258380C>T - LRSAM1_000062 rs75171318 0.025 13 516 6516 - - Admin
./. 1 - c.1912+5A>C r.spl? p.? g.130259618A>C - LRSAM1_000063 rs2248822 0.754 389 516 8152 - - Admin
./. 1 - c.1912+43G>A r.(=) p.(=) g.130259656G>A - LRSAM1_000064 rs3802358 0.143 74 516 8218 - - Admin
./. 1 - c.1912+217C>A r.(=) p.(=) g.130259830C>A - LRSAM1_000065 rs78236680 0.028 14 508 1849 - - Admin
./. 1 - c.1913-167_1913-163del r.(=) p.(=) g.130263122_130263126del - LRSAM1_000066 rs202170304 0.028 14 508 1849 - - Admin
./. 1 - c.1913-152G>A r.(=) p.(=) g.130263137G>A - LRSAM1_000067 rs1054969389 0.001938 1 516 3497 1 - Admin
./. 1 - c.1980G>A r.(=) p.(=) g.130263356G>A - LRSAM1_000068 rs147805183 0.001938 1 516 8952 - - Admin
./. 1 - c.2046+32C>T r.(=) p.(=) g.130263454C>T - LRSAM1_000069 rs7019372 0.014 7 516 3204 - - Admin
./. 1 - c.2047-39C>T r.(=) p.(=) g.130265014C>T - LRSAM1_000070 rs10987671 0.128 66 514 2701 - - Admin
./. 1 - c.2047-23A>C r.(=) p.(=) g.130265030A>C - LRSAM1_000071 rs181016743 0.005814 3 516 3316 - - Admin
./. 1 - c.*57G>A r.(=) p.(=) g.130265235G>A - LRSAM1_000072 rs549468112 0.006 3 500 1101 - - Admin
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