Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.122508758C>ACA471667161HTRA1c.1108C>A (p.Arg370=)
c.790C>A (p.Arg264=)
c.331C>A (p.Arg111=)
 gnomAD v4
10g.122508758C=CA1941478125HTRA1c.1108C= (p.Arg370=)
c.790C= (p.Arg264=)
c.331C= (p.Arg111=)
10g.122508758C>GCA378586915HTRA1c.1108C>G (p.Arg370Gly)
c.790C>G (p.Arg264Gly)
c.331C>G (p.Arg111Gly)
10g.122508758C>TCA340681HTRA1c.1108C>T (p.Arg370Ter)
c.790C>T (p.Arg264Ter)
c.331C>T (p.Arg111Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122508759G>ACA5726043HTRA1c.1109G>A (p.Arg370Gln)
c.791G>A (p.Arg264Gln)
c.332G>A (p.Arg111Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122508759G>CCA5726044HTRA1c.1109G>C (p.Arg370Pro)
c.791G>C (p.Arg264Pro)
c.332G>C (p.Arg111Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.122508759G=CA1941478126HTRA1c.1109G= (p.Arg370=)
c.791G= (p.Arg264=)
c.332G= (p.Arg111=)
10g.122508759G>TCA378586919HTRA1c.1109G>T (p.Arg370Leu)
c.791G>T (p.Arg264Leu)
c.332G>T (p.Arg111Leu)
 dbSNP gnomAD v2 gnomAD v4
10g.122508760A>CCA471667162HTRA1c.1110A>C (p.Arg370=)
c.792A>C (p.Arg264=)
c.333A>C (p.Arg111=)
10g.122508760A>GCA471667163HTRA1c.1110A>G (p.Arg370=)
c.792A>G (p.Arg264=)
c.333A>G (p.Arg111=)
10g.122508760A>TCA471667164HTRA1c.1110A>T (p.Arg370=)
c.792A>T (p.Arg264=)
c.333A>T (p.Arg111=)
10g.122508761C>ACA378586920HTRA1c.1111C>A (p.Gln371Lys)
c.793C>A (p.Gln265Lys)
c.334C>A (p.Gln112Lys)
10g.122508761C>GCA378586923HTRA1c.1111C>G (p.Gln371Glu)
c.793C>G (p.Gln265Glu)
c.334C>G (p.Gln112Glu)
10g.122508761C>TCA378586925HTRA1c.1111C>T (p.Gln371Ter)
c.793C>T (p.Gln265Ter)
c.334C>T (p.Gln112Ter)
10g.122508762A>CCA378586928HTRA1c.1112A>C (p.Gln371Pro)
c.794A>C (p.Gln265Pro)
c.335A>C (p.Gln112Pro)
10g.122508762A>GCA378586929HTRA1c.1112A>G (p.Gln371Arg)
c.794A>G (p.Gln265Arg)
c.335A>G (p.Gln112Arg)
10g.122508762A>TCA378586932HTRA1c.1112A>T (p.Gln371Leu)
c.794A>T (p.Gln265Leu)
c.335A>T (p.Gln112Leu)
10g.122508763G>ACA5726045HTRA1c.1113G>A (p.Gln371=)
c.795G>A (p.Gln265=)
c.336G>A (p.Gln112=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.122508763G>CCA378586943HTRA1c.1113G>C (p.Gln371His)
c.795G>C (p.Gln265His)
c.336G>C (p.Gln112His)
10g.122508763G=CA1941478127HTRA1c.1113G= (p.Gln371=)
c.795G= (p.Gln265=)
c.336G= (p.Gln112=)
10g.122508763G>TCA378586939HTRA1c.1113G>T (p.Gln371His)
c.795G>T (p.Gln265His)
c.336G>T (p.Gln112His)
10g.122508764G>ACA378586945HTRA1c.1114G>A (p.Ala372Thr)
c.796G>A (p.Ala266Thr)
c.337G>A (p.Ala113Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.122508764G>CCA378586947HTRA1c.1114G>C (p.Ala372Pro)
c.796G>C (p.Ala266Pro)
c.337G>C (p.Ala113Pro)
10g.122508764G=CA1941478128HTRA1c.1114G= (p.Ala372=)
c.796G= (p.Ala266=)
c.337G= (p.Ala113=)
10g.122508764G>TCA378586949HTRA1c.1114G>T (p.Ala372Ser)
c.796G>T (p.Ala266Ser)
c.337G>T (p.Ala113Ser)
 dbSNP
10g.122508765C>ACA378586951HTRA1c.1115C>A (p.Ala372Asp)
c.797C>A (p.Ala266Asp)
c.338C>A (p.Ala113Asp)
 gnomAD v4
10g.122508765C=CA1941478129HTRA1c.1115C= (p.Ala372=)
c.797C= (p.Ala266=)
c.338C= (p.Ala113=)
10g.122508765C>GCA378586953HTRA1c.1115C>G (p.Ala372Gly)
c.797C>G (p.Ala266Gly)
c.338C>G (p.Ala113Gly)
10g.122508765C>TCA378586954HTRA1c.1115C>T (p.Ala372Val)
c.797C>T (p.Ala266Val)
c.338C>T (p.Ala113Val)
 dbSNP gnomAD v2 gnomAD v4
10g.122508766C>ACA471667165HTRA1c.1116C>A (p.Ala372=)
c.798C>A (p.Ala266=)
c.339C>A (p.Ala113=)
 gnomAD v4
10g.122508766C>GCA471667166HTRA1c.1116C>G (p.Ala372=)
c.798C>G (p.Ala266=)
c.339C>G (p.Ala113=)
10g.122508766C>TCA471667167HTRA1c.1116C>T (p.Ala372=)
c.798C>T (p.Ala266=)
c.339C>T (p.Ala113=)
 gnomAD v4
10g.122508767A>CCA378586956HTRA1c.1117A>C (p.Lys373Gln)
c.799A>C (p.Lys267Gln)
c.340A>C (p.Lys114Gln)
 gnomAD v4
10g.122508767A>GCA378586963HTRA1c.1117A>G (p.Lys373Glu)
c.799A>G (p.Lys267Glu)
c.340A>G (p.Lys114Glu)
10g.122508767A>TCA378586965HTRA1c.1117A>T (p.Lys373Ter)
c.799A>T (p.Lys267Ter)
c.340A>T (p.Lys114Ter)
10g.122508768_122508769dupCA2574697869HTRA1c.1118_1119dup (p.Gly374LysfsTer15)
c.800_801dup (p.Gly268LysfsTer15)
c.341_342dup (p.Gly115LysfsTer15)
10g.122508769delCA2574697868HTRA1c.1119del (p.Gly374GlufsTer14)
c.801del (p.Gly268GlufsTer14)
c.342del (p.Gly115GlufsTer14)
10g.122508768A>CCA378586971HTRA1c.1118A>C (p.Lys373Thr)
c.800A>C (p.Lys267Thr)
c.341A>C (p.Lys114Thr)
10g.122508768A>GCA378586970HTRA1c.1118A>G (p.Lys373Arg)
c.800A>G (p.Lys267Arg)
c.341A>G (p.Lys114Arg)
10g.122508768A>TCA378586967HTRA1c.1118A>T (p.Lys373Ile)
c.800A>T (p.Lys267Ile)
c.341A>T (p.Lys114Ile)
10g.122508769A>CCA378586972HTRA1c.1119A>C (p.Lys373Asn)
c.801A>C (p.Lys267Asn)
c.342A>C (p.Lys114Asn)
10g.122508769A>GCA471667168HTRA1c.1119A>G (p.Lys373=)
c.801A>G (p.Lys267=)
c.342A>G (p.Lys114=)
10g.122508769A>TCA378586973HTRA1c.1119A>T (p.Lys373Asn)
c.801A>T (p.Lys267Asn)
c.342A>T (p.Lys114Asn)
 COSMIC
10g.122508770G>ACA378586976HTRA1c.1120G>A (p.Gly374Arg)
c.802G>A (p.Gly268Arg)
c.343G>A (p.Gly115Arg)
 dbSNP
10g.122508770G>CCA378586977HTRA1c.1120G>C (p.Gly374Arg)
c.802G>C (p.Gly268Arg)
c.343G>C (p.Gly115Arg)
 gnomAD v4
10g.122508770G=CA1941478130HTRA1c.1120G= (p.Gly374=)
c.802G= (p.Gly268=)
c.343G= (p.Gly115=)
10g.122508770G>TCA378586979HTRA1c.1120G>T (p.Gly374Ter)
c.802G>T (p.Gly268Ter)
c.343G>T (p.Gly115Ter)
10g.122508771G>ACA378586981HTRA1c.1120+1G>A (n.1120+1G>A)
c.802+1G>A (n.802+1G>A)
c.343+1G>A (n.343+1G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.122508771G>CCA378586983HTRA1c.1120+1G>C (n.1120+1G>C)
c.802+1G>C (n.802+1G>C)
c.343+1G>C (n.343+1G>C)
10g.122508771G=CA1941478132HTRA1c.1120+1G= (n.1120+1G=)
c.802+1G= (n.802+1G=)
c.343+1G= (n.343+1G=)

Number of alleles fetched