All variants affecting transcripts

60 entries on 1 page. Showing entries 1 - 60.
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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDH23 NM_001171930.1 10 Unknown g.71733508G>A dbSNP CDH23_000001 - admin ./. - c.5237G>A r.(=) p.(Arg1746Gln)
GJB2 NM_004004.5 13 Both (homozygous) g.20189547delC dbSNP GJB2_000001 - admin +/+ - c.35delG r.(?) p.(Gly12Valfs*2)
GJB2 NM_004004.5 13 Unknown g.20189143C>T dbSNP GJB2_000002 - admin ./. - c.439G>A r.(?) p.(Glu147Lys)
GJB2 NM_004004.5 13 Unknown g.20189481A>G dbSNP GJB2_000003 - admin ./. - c.101T>C r.(?) p.(Met34Thr)
GJB2 NM_004004.5 13 Unknown g.20189154C>T dbSNP GJB2_000004 - admin ./. - c.428G>A r.(?) p.(Arg143Gln)
GJB2 NM_004004.5 13 Unknown g.20189473C>T dbSNP GJB2_000005 - admin ./. - c.109G>A r.(?) p.(Val37Ile)
GJB2 NM_004004.5 13 Unknown g.20189299C>T dbSNP GJB2_000006 - admin ./. - c.283G>A r.(?) p.(Val95Met)
GJB2 NM_004004.5 13 Unknown g.20188965T>C dbSNP GJB2_000007 - admin ./. - c.617A>G r.(?) p.(Asn206Ser)
GJB2 NM_004004.5 13 Unknown g.20189313A>G dbSNP GJB2_000008 - admin ./. - c.269T>C r.(?) p.(Leu90Pro)
GJB2 NM_004004.5 13 Unknown g.20189503C>T dbSNP GJB2_000009 - admin ./. - c.79G>A r.(?) p.(Val27Ile)
GJB2 NM_004004.5 13 Unknown g.20189268T>C - GJB2_000010 - admin ./. - c.314A>G r.(?) p.(Lys105Arg)
GJB2 NM_004004.5 13 Unknown g.20189079T>C dbSNP GJB2_000011 - admin ./. - c.503A>G r.(?) p.(Lys168Arg)
GJB2 NM_004004.5 13 Unknown g.20189325G>C - GJB2_000012 - admin ./. - c.257C>G r.(?) p.(Thr86Arg)
GJB2 NM_004004.5 13 Unknown g.20189358C>T dbSNP GJB2_000013 - admin ./. - c.224G>A r.(?) p.(Arg75Gln)
GJB2 NM_004004.5 13 Unknown g.20189222_20189224delCTC dbSNP GJB2_000014 - admin ./. - c.358_360delGAG r.(?) p.(Glu120del)
GJB2 NM_004004.5 13 Unknown g.20189066C>T - GJB2_000015 - admin ./. - c.516G>A r.(?) p.(Trp172*)
GJB2 NM_004004.5 13 Unknown g.20189415delA dbSNP GJB2_000016 - admin ./. - c.167delT r.(?) p.(Leu56Argfs*26)
GJB2 NM_004004.5 13 Unknown g.20189125C>T dbSNP GJB2_000017 - admin ./. - c.457G>A r.(?) p.(Val153Ile)
GJB2 NM_004004.5 13 Unknown g.20189031C>G dbSNP GJB2_000018 - admin ./. - c.551G>C r.(?) p.(Arg184Pro)
GJB2 NM_004004.5 13 Unknown g.20189032G>C - GJB2_000019 - admin ./. - c.550C>G r.(?) p.(Arg184Trp)
GJB2 NM_004004.5 13 Unknown g.20189296C>T - GJB2_000020 - admin ./. - c.286G>A r.(?) p.(Trp24*)
GJB2 NM_004004.5 13 Unknown g.20189197C>T dbSNP GJB2_000021 - admin ./. - c.385G>A r.(?) p.(Glu129Lys)
GJB2 NM_004004.5 13 Unknown g.20189155G>A dbSNP GJB2_000022 - admin ./. - c.427C>T r.(?) p.(Arg143Trp)
GJB2 NM_004004.5 13 Unknown g.20192782C>T dbSNP GJB2_000023 - admin ./. - c.-23+1G>A r.spl? p.?
GJB2 NM_004004.5 13 Unknown g.20189443C>A dbSNP GJB2_000024 - admin ./. - c.139G>T r.(?) p.(Glu47*)
GJB2 NM_004004.5 13 Unknown g.20189031C>G dbSNP GJB2_000018 - admin ./. - c.551G>C r.(?) p.(Arg184Pro)
GJB2 NM_004004.5 13 Unknown g.20189241T>C dbSNP GJB2_000025 - admin ./. - c.341A>G r.(?) p.(Glu114Gly)
GJB3 NM_024009.2 1 Unknown g.34785291T>G dbSNP GJB3_000001 - admin ./. - c.529T>G r.(?) p.(Tyr177Asp)
GJB6 NM_001110219.2 13 Unknown g.20223446delC - GJB6_000001 - admin ./. - c.35delG r.(?) p.(Gly12Valfs*23)
MT-RNR1 NC_012920.1(RNR1_v001) M Maternal (confirmed) m.1555A>G dbSNP MT-RNR1_000001 - admin ./. - n.908A>G r.(?) -
MT-RNR1 NC_012920.1(RNR1_v001) M Maternal (confirmed) m.827A>G dbSNP MT-RNR1_000002 - admin ./. - n.180A>G r.(?) -
MT-RNR1 NC_012920.1(RNR1_v001) M Maternal (confirmed) m.1291T>C dbSNP MT-RNR1_000003 - admin ./. - n.644T>C r.(?) -
MT-RNR1 NC_012920.1(RNR1_v001) M Maternal (confirmed) m.709G>A - MT-RNR1_000004 - admin ./. - n.62G>A r.(?) -
MT-RNR1 NC_012920.1(RNR1_v001) M Maternal (confirmed) m.988G>A - MT-RNR1_000005 - admin ./. - n.341G>A r.(?) -
MT-TK NC_012920.1(TRNK_v001) M Maternal (confirmed) m.8363G>A - MT-TK_000001 - admin ./. - n.69G>A r.(?) -
MT-TS2 NC_012920.1(TRNS2_v001) M Maternal (confirmed) m.12236G>A dbSNP MT-TS2_000001 - admin ./. - n.30G>A r.(?) -
MYO15A NM_016239.3 17 Unknown g.18178850A>G dbSNP MYO15A_000001 - admin ./. - c.10573A>G r.(?) p.(Ser3525Gly)
OTOF NM_194248.2 2 Unknown g.26537725G>A dbSNP OTOF_000001 - admin ./. - c.129C>T r.(=) p.Asp43=
OTOF NM_194248.2 2 Unknown g.26527901G>A dbSNP OTOF_000002 - admin ./. - c.158C>T r.(?) p.(Ala53Val)
OTOF NM_194248.2 2 Unknown g.26516555T>C dbSNP OTOF_000003 - admin ./. - c.372A>G r.(=) p.Thr124=
OTOF NM_194248.2 2 Unknown g.26537688A>C dbSNP OTOF_000004 - admin ./. - c.138+28T>G r.(=) p.(=)
OTOF NM_194248.2 2 Unknown g.26537654G>A dbSNP OTOF_000005 - admin ./. - c.138+62C>T r.(=) p.(=)
OTOF NM_194248.2 2 Unknown g.26537641C>T dbSNP OTOF_000006 - admin ./. - c.138+75G>A r.(=) p.(=)
OTOF NM_194248.2 2 Unknown g.26527777G>A dbSNP OTOF_000007 - admin ./. - c.227+55C>T r.(=) p.(=)
OTOF NM_194248.2 2 Unknown g.26516408T>C dbSNP OTOF_000008 - admin ./. - c.509+10A>G r.(=) p.(=)
OTOF NM_194248.2 2 Unknown g.26516379T>A dbSNP OTOF_000009 - admin ./. - c.509+39A>T r.(=) p.(=)
OTOF NM_194248.2 2 Unknown g.26501847G>A dbSNP OTOF_000010 - admin ./. - c.711-39C>T r.(=) p.(=)
SLC26A4 NM_000441.1 7 Unknown g.107701849T>G dbSNP SLC26A4_000001 - admin ./. - c.1826T>G r.(?) p.(Val609Gly)
SLC26A4 NM_000441.1 7 Unknown g.107674193G>C - SLC26A4_000002 - admin ./. - c.445G>C r.(?) p.(Gly149Arg)
SLC26A4 NM_000441.1 7 Unknown g.107690212A>G dbSNP SLC26A4_000003 - admin ./. - c.1238A>G r.(?) p.(Gln413Arg)
SLC26A4 NM_000441.1 7 Unknown g.107683281G>A dbSNP SLC26A4_000004 - admin ./. - c.845G>A r.(?) p.(Cys282Tyr)
SLC26A4 NM_000441.1 7 Unknown g.107674173C>T - SLC26A4_000005 - admin ./. - c.425C>T r.(?) p.(Pro142Leu)
SLC26A4 NM_000441.1 7 Unknown g.107674326C>T dbSNP SLC26A4_000006 - admin ./. - c.578C>T r.(?) p.(Thr193Ile)
SLC26A4 NM_000441.1 7 Unknown g.107690200G>A dbSNP SLC26A4_000007 - admin ./. - c.1226G>A r.(?) p.(Arg409His)
SLC26A4 NM_000441.1 7 Unknown g.107690203C>T dbSNP SLC26A4_000008 - admin ./. - c.1229C>T r.(?) p.(Thr410Met)
SLC26A4 NM_000441.1 7 Unknown g.107694473T>G dbSNP SLC26A4_000009 - admin ./. - c.1334T>G r.(?) p.(Leu445Trp)
SLC26A4 NM_000441.1 7 Unknown g.107715429C>T dbSNP SLC26A4_000010 - admin ./. - c.2326C>T r.(?) p.(Arg776Cys)
SLC26A4 NM_000441.1 7 Unknown g.107663410delT dbSNP SLC26A4_000011 - admin ./. - c.279delT r.(?) p.(Ser93Argfs*4)
SLC26A4 NM_000441.1 7 Unknown g.107672245G>T dbSNP SLC26A4_000012 - admin ./. - c.412G>T r.(?) p.(Val138Phe)
SLC26A4 NM_000441.1 7 Unknown g.107683538G>A dbSNP SLC26A4_000013 - admin ./. - c.1001+1G>A r.spl? p.?
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