Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.15641909A>CCA351605017BTDc.251A>C (p.Asp84Ala)
n.1090A>C
c.17A>C (p.Asp6Ala)
c.311A>C (p.Asp104Ala)
c.317A>C (p.Asp106Ala)
c.29A>C (p.Asp10Ala)
n.386A>C
3g.15641909A>GCA351605019BTDc.251A>G (p.Asp84Gly)
n.1090A>G
c.17A>G (p.Asp6Gly)
c.311A>G (p.Asp104Gly)
c.317A>G (p.Asp106Gly)
c.29A>G (p.Asp10Gly)
n.386A>G
 ClinVar gnomAD v4
3g.15641909A>TCA351605018BTDc.251A>T (p.Asp84Val)
n.1090A>T
c.17A>T (p.Asp6Val)
c.311A>T (p.Asp104Val)
c.317A>T (p.Asp106Val)
c.29A>T (p.Asp10Val)
n.386A>T
3g.15641910T>ACA351605020BTDc.252T>A (p.Asp84Glu)
n.1091T>A
c.18T>A (p.Asp6Glu)
c.312T>A (p.Asp104Glu)
c.318T>A (p.Asp106Glu)
c.30T>A (p.Asp10Glu)
n.387T>A
3g.15641910T>CCA2277294BTDc.252T>C (p.Asp84=)
n.1091T>C
c.18T>C (p.Asp6=)
c.312T>C (p.Asp104=)
c.318T>C (p.Asp106=)
c.30T>C (p.Asp10=)
n.387T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15641910T>GCA351605021BTDc.252T>G (p.Asp84Glu)
n.1091T>G
c.18T>G (p.Asp6Glu)
c.312T>G (p.Asp104Glu)
c.318T>G (p.Asp106Glu)
c.30T>G (p.Asp10Glu)
n.387T>G
3g.15641910T=CA1347644700BTDc.252T= (p.Asp84=)
n.1091T=
c.18T= (p.Asp6=)
c.312T= (p.Asp104=)
c.318T= (p.Asp106=)
c.30T= (p.Asp10=)
n.387T=
3g.15641911_15641912dupCA2831039760BTDc.253_254dup (p.Gln86TyrfsTer4)
n.1092_1093dup
c.19_20dup (p.Gln8TyrfsTer4)
c.313_314dup (p.Gln106TyrfsTer4)
c.319_320dup (p.Gln108TyrfsTer4)
c.31_32dup (p.Gln12TyrfsTer4)
n.388_389dup
3g.15641911G>ACA351605022BTDc.253G>A (p.Val85Ile)
n.1092G>A
c.19G>A (p.Val7Ile)
c.313G>A (p.Val105Ile)
c.319G>A (p.Val107Ile)
c.31G>A (p.Val11Ile)
n.388G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15641911G>CCA351605023BTDc.253G>C (p.Val85Leu)
n.1092G>C
c.19G>C (p.Val7Leu)
c.313G>C (p.Val105Leu)
c.319G>C (p.Val107Leu)
c.31G>C (p.Val11Leu)
n.388G>C
3g.15641911G=CA1347644703BTDc.253G= (p.Val85=)
n.1092G=
c.19G= (p.Val7=)
c.313G= (p.Val105=)
c.319G= (p.Val107=)
c.31G= (p.Val11=)
n.388G=
3g.15641911G>TCA351605024BTDc.253G>T (p.Val85Leu)
n.1092G>T
c.19G>T (p.Val7Leu)
c.313G>T (p.Val105Leu)
c.319G>T (p.Val107Leu)
c.31G>T (p.Val11Leu)
n.388G>T
3g.15641912T>ACA351605025BTDc.254T>A (p.Val85Glu)
n.1093T>A
c.20T>A (p.Val7Glu)
c.314T>A (p.Val105Glu)
c.320T>A (p.Val107Glu)
c.32T>A (p.Val11Glu)
n.389T>A
 gnomAD v4
3g.15641912T>CCA351605026BTDc.254T>C (p.Val85Ala)
n.1093T>C
c.20T>C (p.Val7Ala)
c.314T>C (p.Val105Ala)
c.320T>C (p.Val107Ala)
c.32T>C (p.Val11Ala)
n.389T>C
 gnomAD v4
3g.15641912T>GCA351605027BTDc.254T>G (p.Val85Gly)
n.1093T>G
c.20T>G (p.Val7Gly)
c.314T>G (p.Val105Gly)
c.320T>G (p.Val107Gly)
c.32T>G (p.Val11Gly)
n.389T>G
3g.15641913A=CA1347644707BTDc.255A= (p.Val85=)
n.1094A=
c.21A= (p.Val7=)
c.315A= (p.Val105=)
c.321A= (p.Val107=)
c.33A= (p.Val11=)
n.390A=
3g.15641913A>CCA70619145BTDc.255A>C (p.Val85=)
n.1094A>C
c.21A>C (p.Val7=)
c.315A>C (p.Val105=)
c.321A>C (p.Val107=)
c.33A>C (p.Val11=)
n.390A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15641913A>GCA432649108BTDc.255A>G (p.Val85=)
n.1094A>G
c.21A>G (p.Val7=)
c.315A>G (p.Val105=)
c.321A>G (p.Val107=)
c.33A>G (p.Val11=)
n.390A>G
 gnomAD v4 COSMIC
3g.15641913A>TCA432649109BTDc.255A>T (p.Val85=)
n.1094A>T
c.21A>T (p.Val7=)
c.315A>T (p.Val105=)
c.321A>T (p.Val107=)
c.33A>T (p.Val11=)
n.390A>T
3g.15641914C>ACA351605031BTDc.256C>A (p.Gln86Lys)
n.1095C>A
c.22C>A (p.Gln8Lys)
c.316C>A (p.Gln106Lys)
c.322C>A (p.Gln108Lys)
c.34C>A (p.Gln12Lys)
n.391C>A
3g.15641914C=CA1347644713BTDc.256C= (p.Gln86=)
n.1095C=
c.22C= (p.Gln8=)
c.316C= (p.Gln106=)
c.322C= (p.Gln108=)
c.34C= (p.Gln12=)
n.391C=
3g.15641914C>GCA351605032BTDc.256C>G (p.Gln86Glu)
n.1095C>G
c.22C>G (p.Gln8Glu)
c.316C>G (p.Gln106Glu)
c.322C>G (p.Gln108Glu)
c.34C>G (p.Gln12Glu)
n.391C>G
3g.15641914C>TCA351605034BTDc.256C>T (p.Gln86Ter)
n.1095C>T
c.22C>T (p.Gln8Ter)
c.316C>T (p.Gln106Ter)
c.322C>T (p.Gln108Ter)
c.34C>T (p.Gln12Ter)
n.391C>T
 ClinVar dbSNP gnomAD v4
3g.15641914_15641915delinsCACA1347644712BTDc.256_257delinsCA (p.Gln86=)
n.1095_1096delinsCA
c.22_23delinsCA (p.Gln8=)
c.316_317delinsCA (p.Gln106=)
c.322_323delinsCA (p.Gln108=)
c.34_35delinsCA (p.Gln12=)
n.391_392delinsCA
3g.15641915delCA1045362191BTDc.257del (p.Gln86ArgfsTer3)
n.1096del
c.23del (p.Gln8ArgfsTer3)
c.317del (p.Gln106ArgfsTer3)
c.323del (p.Gln108ArgfsTer3)
c.35del (p.Gln12ArgfsTer3)
n.392del
 dbSNP gnomAD v3 gnomAD v4
3g.15641915A>CCA351605040BTDc.257A>C (p.Gln86Pro)
n.1096A>C
c.23A>C (p.Gln8Pro)
c.317A>C (p.Gln106Pro)
c.323A>C (p.Gln108Pro)
c.35A>C (p.Gln12Pro)
n.392A>C
3g.15641915A>GCA351605038BTDc.257A>G (p.Gln86Arg)
n.1096A>G
c.23A>G (p.Gln8Arg)
c.317A>G (p.Gln106Arg)
c.323A>G (p.Gln108Arg)
c.35A>G (p.Gln12Arg)
n.392A>G
3g.15641915A>TCA351605037BTDc.257A>T (p.Gln86Leu)
n.1096A>T
c.23A>T (p.Gln8Leu)
c.317A>T (p.Gln106Leu)
c.323A>T (p.Gln108Leu)
c.35A>T (p.Gln12Leu)
n.392A>T
3g.15641916G>ACA432649110BTDc.258G>A (p.Gln86=)
n.1097G>A
c.24G>A (p.Gln8=)
c.318G>A (p.Gln106=)
c.324G>A (p.Gln108=)
c.36G>A (p.Gln12=)
n.393G>A
3g.15641916G>CCA351605043BTDc.258G>C (p.Gln86His)
n.1097G>C
c.24G>C (p.Gln8His)
c.318G>C (p.Gln106His)
c.324G>C (p.Gln108His)
c.36G>C (p.Gln12His)
n.393G>C
3g.15641916G>TCA351605044BTDc.258G>T (p.Gln86His)
n.1097G>T
c.24G>T (p.Gln8His)
c.318G>T (p.Gln106His)
c.324G>T (p.Gln108His)
c.36G>T (p.Gln12His)
n.393G>T
3g.15641917A>CCA351605047BTDc.259A>C (p.Ile87Leu)
n.1098A>C
c.25A>C (p.Ile9Leu)
c.319A>C (p.Ile107Leu)
c.325A>C (p.Ile109Leu)
c.37A>C (p.Ile13Leu)
n.394A>C
 gnomAD v4
3g.15641917A>GCA351605049BTDc.259A>G (p.Ile87Val)
n.1098A>G
c.25A>G (p.Ile9Val)
c.319A>G (p.Ile107Val)
c.325A>G (p.Ile109Val)
c.37A>G (p.Ile13Val)
n.394A>G
3g.15641917A>TCA351605050BTDc.259A>T (p.Ile87Phe)
n.1098A>T
c.25A>T (p.Ile9Phe)
c.319A>T (p.Ile107Phe)
c.325A>T (p.Ile109Phe)
c.37A>T (p.Ile13Phe)
n.394A>T
3g.15641918T>ACA351605052BTDc.260T>A (p.Ile87Asn)
n.1099T>A
c.26T>A (p.Ile9Asn)
c.320T>A (p.Ile107Asn)
c.326T>A (p.Ile109Asn)
c.38T>A (p.Ile13Asn)
n.395T>A
3g.15641918T>CCA351605053BTDc.260T>C (p.Ile87Thr)
n.1099T>C
c.26T>C (p.Ile9Thr)
c.320T>C (p.Ile107Thr)
c.326T>C (p.Ile109Thr)
c.38T>C (p.Ile13Thr)
n.395T>C
3g.15641918T>GCA351605055BTDc.260T>G (p.Ile87Ser)
n.1099T>G
c.26T>G (p.Ile9Ser)
c.320T>G (p.Ile107Ser)
c.326T>G (p.Ile109Ser)
c.38T>G (p.Ile13Ser)
n.395T>G
3g.15641918T=CA1347644718BTDc.260T= (p.Ile87=)
n.1099T=
c.26T= (p.Ile9=)
c.320T= (p.Ile107=)
c.326T= (p.Ile109=)
c.38T= (p.Ile13=)
n.395T=
3g.15641919T>ACA432649111BTDc.261T>A (p.Ile87=)
n.1100T>A
c.27T>A (p.Ile9=)
c.321T>A (p.Ile107=)
c.327T>A (p.Ile109=)
c.39T>A (p.Ile13=)
n.396T>A
3g.15641919T>CCA432649112BTDc.261T>C (p.Ile87=)
n.1100T>C
c.27T>C (p.Ile9=)
c.321T>C (p.Ile107=)
c.327T>C (p.Ile109=)
c.39T>C (p.Ile13=)
n.396T>C
 gnomAD v4
3g.15641919T>GCA70619147BTDc.261T>G (p.Ile87Met)
n.1100T>G
c.27T>G (p.Ile9Met)
c.321T>G (p.Ile107Met)
c.327T>G (p.Ile109Met)
c.39T>G (p.Ile13Met)
n.396T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15641919T=CA1347644725BTDc.261T= (p.Ile87=)
n.1100T=
c.27T= (p.Ile9=)
c.321T= (p.Ile107=)
c.327T= (p.Ile109=)
c.39T= (p.Ile13=)
n.396T=
3g.15641921_15641922dupCA891843042BTDc.263_264dup (p.Val89Ter)
n.1102_1103dup
c.29_30dup (p.Val11Ter)
c.323_324dup (p.Val109Ter)
c.329_330dup (p.Val111Ter)
c.41_42dup (p.Val15Ter)
n.398_399dup
3g.15641920A=CA1347644735BTDc.262A= (p.Ile88=)
n.1101A=
c.28A= (p.Ile10=)
c.322A= (p.Ile108=)
c.328A= (p.Ile110=)
c.40A= (p.Ile14=)
n.397A=
3g.15641920A>CCA351605058BTDc.262A>C (p.Ile88Leu)
n.1101A>C
c.28A>C (p.Ile10Leu)
c.322A>C (p.Ile108Leu)
c.328A>C (p.Ile110Leu)
c.40A>C (p.Ile14Leu)
n.397A>C
3g.15641920A>GCA70619149BTDc.262A>G (p.Ile88Val)
n.1101A>G
c.28A>G (p.Ile10Val)
c.322A>G (p.Ile108Val)
c.328A>G (p.Ile110Val)
c.40A>G (p.Ile14Val)
n.397A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15641920A>TCA351605062BTDc.262A>T (p.Ile88Leu)
n.1101A>T
c.28A>T (p.Ile10Leu)
c.322A>T (p.Ile108Leu)
c.328A>T (p.Ile110Leu)
c.40A>T (p.Ile14Leu)
n.397A>T
 gnomAD v4
3g.15641921T>ACA351605068BTDc.263T>A (p.Ile88Lys)
n.1102T>A
c.29T>A (p.Ile10Lys)
c.323T>A (p.Ile108Lys)
c.329T>A (p.Ile110Lys)
c.41T>A (p.Ile14Lys)
n.398T>A
3g.15641921T>CCA351605066BTDc.263T>C (p.Ile88Thr)
n.1102T>C
c.29T>C (p.Ile10Thr)
c.323T>C (p.Ile108Thr)
c.329T>C (p.Ile110Thr)
c.41T>C (p.Ile14Thr)
n.398T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15641921T>GCA351605065BTDc.263T>G (p.Ile88Arg)
n.1102T>G
c.29T>G (p.Ile10Arg)
c.323T>G (p.Ile108Arg)
c.329T>G (p.Ile110Arg)
c.41T>G (p.Ile14Arg)
n.398T>G
3g.15641921T=CA1347644742BTDc.263T= (p.Ile88=)
n.1102T=
c.29T= (p.Ile10=)
c.323T= (p.Ile108=)
c.329T= (p.Ile110=)
c.41T= (p.Ile14=)
n.398T=
3g.15641922A>CCA432649113BTDc.264A>C (p.Ile88=)
n.1103A>C
c.30A>C (p.Ile10=)
c.324A>C (p.Ile108=)
c.330A>C (p.Ile110=)
c.42A>C (p.Ile14=)
n.399A>C
 gnomAD v4
3g.15641922A>GCA351605070BTDc.264A>G (p.Ile88Met)
n.1103A>G
c.30A>G (p.Ile10Met)
c.324A>G (p.Ile108Met)
c.330A>G (p.Ile110Met)
c.42A>G (p.Ile14Met)
n.399A>G
3g.15641922A>TCA432649114BTDc.264A>T (p.Ile88=)
n.1103A>T
c.30A>T (p.Ile10=)
c.324A>T (p.Ile108=)
c.330A>T (p.Ile110=)
c.42A>T (p.Ile14=)
n.399A>T
3g.15641923G>ACA351605072BTDc.265G>A (p.Val89Met)
n.1104G>A
c.31G>A (p.Val11Met)
c.325G>A (p.Val109Met)
c.331G>A (p.Val111Met)
c.43G>A (p.Val15Met)
n.400G>A
 gnomAD v4
3g.15641923G>CCA2277295BTDc.265G>C (p.Val89Leu)
n.1104G>C
c.31G>C (p.Val11Leu)
c.325G>C (p.Val109Leu)
c.331G>C (p.Val111Leu)
c.43G>C (p.Val15Leu)
n.400G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15641923G=CA1347644746BTDc.265G= (p.Val89=)
n.1104G=
c.31G= (p.Val11=)
c.325G= (p.Val109=)
c.331G= (p.Val111=)
c.43G= (p.Val15=)
n.400G=
3g.15641923G>TCA351605074BTDc.265G>T (p.Val89Leu)
n.1104G>T
c.31G>T (p.Val11Leu)
c.325G>T (p.Val109Leu)
c.331G>T (p.Val111Leu)
c.43G>T (p.Val15Leu)
n.400G>T
3g.15641924T>ACA351605076BTDc.266T>A (p.Val89Glu)
n.1105T>A
c.32T>A (p.Val11Glu)
c.326T>A (p.Val109Glu)
c.332T>A (p.Val111Glu)
c.44T>A (p.Val15Glu)
n.401T>A
3g.15641924T>CCA351605078BTDc.266T>C (p.Val89Ala)
n.1105T>C
c.32T>C (p.Val11Ala)
c.326T>C (p.Val109Ala)
c.332T>C (p.Val111Ala)
c.44T>C (p.Val15Ala)
n.401T>C
3g.15641924T>GCA278185BTDc.266T>G (p.Val89Gly)
n.1105T>G
c.32T>G (p.Val11Gly)
c.326T>G (p.Val109Gly)
c.332T>G (p.Val111Gly)
c.44T>G (p.Val15Gly)
n.401T>G
 dbSNP
3g.15641924T=CA1347644759BTDc.266T= (p.Val89=)
n.1105T=
c.32T= (p.Val11=)
c.326T= (p.Val109=)
c.332T= (p.Val111=)
c.44T= (p.Val15=)
n.401T=
3g.15641924dupCA658761134BTDc.266dup (p.Phe90ValfsTer?)
n.1105dup
c.32dup (p.Phe12ValfsTer?)
c.326dup (p.Phe110ValfsTer?)
c.332dup (p.Phe112ValfsTer?)
c.44dup (p.Phe16ValfsTer?)
n.401dup
3g.15641925G>ACA432649115BTDc.267G>A (p.Val89=)
n.1106G>A
c.33G>A (p.Val11=)
c.327G>A (p.Val109=)
c.333G>A (p.Val111=)
c.45G>A (p.Val15=)
n.402G>A
 gnomAD v4
3g.15641925G>CCA432649116BTDc.267G>C (p.Val89=)
n.1106G>C
c.33G>C (p.Val11=)
c.327G>C (p.Val109=)
c.333G>C (p.Val111=)
c.45G>C (p.Val15=)
n.402G>C
3g.15641925G=CA1347644764BTDc.267G= (p.Val89=)
n.1106G=
c.33G= (p.Val11=)
c.327G= (p.Val109=)
c.333G= (p.Val111=)
c.45G= (p.Val15=)
n.402G=
3g.15641925G>TCA432649117BTDc.267G>T (p.Val89=)
n.1106G>T
c.33G>T (p.Val11=)
c.327G>T (p.Val109=)
c.333G>T (p.Val111=)
c.45G>T (p.Val15=)
n.402G>T
 ClinVar dbSNP
3g.15641926T>ACA351605084BTDc.268T>A (p.Phe90Ile)
n.1107T>A
c.34T>A (p.Phe12Ile)
c.328T>A (p.Phe110Ile)
c.334T>A (p.Phe112Ile)
c.46T>A (p.Phe16Ile)
n.403T>A
3g.15641926T>CCA351605080BTDc.268T>C (p.Phe90Leu)
n.1107T>C
c.34T>C (p.Phe12Leu)
c.328T>C (p.Phe110Leu)
c.334T>C (p.Phe112Leu)
c.46T>C (p.Phe16Leu)
n.403T>C
 gnomAD v4
3g.15641926T>GCA351605082BTDc.268T>G (p.Phe90Val)
n.1107T>G
c.34T>G (p.Phe12Val)
c.328T>G (p.Phe110Val)
c.334T>G (p.Phe112Val)
c.46T>G (p.Phe16Val)
n.403T>G
3g.15641928dupCA1347644768BTDc.270dup (p.Pro91SerfsTer?)
n.1109dup
c.36dup (p.Pro13SerfsTer?)
c.330dup (p.Pro111SerfsTer?)
c.336dup (p.Pro113SerfsTer?)
c.48dup (p.Pro17SerfsTer?)
n.405dup
 dbSNP
3g.15641928delCA2580068510BTDc.270del (p.Pro91GlnfsTer?)
n.1109del
c.36del (p.Pro13GlnfsTer?)
c.330del (p.Pro111GlnfsTer?)
c.336del (p.Pro113GlnfsTer?)
c.48del (p.Pro17GlnfsTer?)
n.405del
 ClinVar
3g.15641927T>ACA351605086BTDc.269T>A (p.Phe90Tyr)
n.1108T>A
c.35T>A (p.Phe12Tyr)
c.329T>A (p.Phe110Tyr)
c.335T>A (p.Phe112Tyr)
c.47T>A (p.Phe16Tyr)
n.404T>A
3g.15641927T>CCA2277296BTDc.269T>C (p.Phe90Ser)
n.1108T>C
c.35T>C (p.Phe12Ser)
c.329T>C (p.Phe110Ser)
c.335T>C (p.Phe112Ser)
c.47T>C (p.Phe16Ser)
n.404T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.15641927T>GCA351605090BTDc.269T>G (p.Phe90Cys)
n.1108T>G
c.35T>G (p.Phe12Cys)
c.329T>G (p.Phe110Cys)
c.335T>G (p.Phe112Cys)
c.47T>G (p.Phe16Cys)
n.404T>G
3g.15641927T=CA1347644771BTDc.269T= (p.Phe90=)
n.1108T=
c.35T= (p.Phe12=)
c.329T= (p.Phe110=)
c.335T= (p.Phe112=)
c.47T= (p.Phe16=)
n.404T=
3g.15641928T>ACA351605092BTDc.270T>A (p.Phe90Leu)
n.1109T>A
c.36T>A (p.Phe12Leu)
c.330T>A (p.Phe110Leu)
c.336T>A (p.Phe112Leu)
c.48T>A (p.Phe16Leu)
n.405T>A
3g.15641928T>CCA432649118BTDc.270T>C (p.Phe90=)
n.1109T>C
c.36T>C (p.Phe12=)
c.330T>C (p.Phe110=)
c.336T>C (p.Phe112=)
c.48T>C (p.Phe16=)
n.405T>C
3g.15641928T>GCA351605094BTDc.270T>G (p.Phe90Leu)
n.1109T>G
c.36T>G (p.Phe12Leu)
c.330T>G (p.Phe110Leu)
c.336T>G (p.Phe112Leu)
c.48T>G (p.Phe16Leu)
n.405T>G
3g.15641929C>ACA351605097BTDc.271C>A (p.Pro91Thr)
n.1110C>A
c.37C>A (p.Pro13Thr)
c.331C>A (p.Pro111Thr)
c.337C>A (p.Pro113Thr)
c.49C>A (p.Pro17Thr)
n.406C>A
3g.15641929C=CA1347644773BTDc.271C= (p.Pro91=)
n.1110C=
c.37C= (p.Pro13=)
c.331C= (p.Pro111=)
c.337C= (p.Pro113=)
c.49C= (p.Pro17=)
n.406C=
3g.15641929C>GCA351605101BTDc.271C>G (p.Pro91Ala)
n.1110C>G
c.37C>G (p.Pro13Ala)
c.331C>G (p.Pro111Ala)
c.337C>G (p.Pro113Ala)
c.49C>G (p.Pro17Ala)
n.406C>G
 ClinVar dbSNP
3g.15641929C>TCA351605099BTDc.271C>T (p.Pro91Ser)
n.1110C>T
c.37C>T (p.Pro13Ser)
c.331C>T (p.Pro111Ser)
c.337C>T (p.Pro113Ser)
c.49C>T (p.Pro17Ser)
n.406C>T
3g.15641930C>ACA351605103BTDc.272C>A (p.Pro91Gln)
n.1111C>A
c.38C>A (p.Pro13Gln)
c.332C>A (p.Pro111Gln)
c.338C>A (p.Pro113Gln)
c.50C>A (p.Pro17Gln)
n.407C>A
3g.15641930C>GCA351605104BTDc.272C>G (p.Pro91Arg)
n.1111C>G
c.38C>G (p.Pro13Arg)
c.332C>G (p.Pro111Arg)
c.338C>G (p.Pro113Arg)
c.50C>G (p.Pro17Arg)
n.407C>G
3g.15641930C>TCA351605106BTDc.272C>T (p.Pro91Leu)
n.1111C>T
c.38C>T (p.Pro13Leu)
c.332C>T (p.Pro111Leu)
c.338C>T (p.Pro113Leu)
c.50C>T (p.Pro17Leu)
n.407C>T
3g.15641931A>CCA432649119BTDc.273A>C (p.Pro91=)
n.1112A>C
c.39A>C (p.Pro13=)
c.333A>C (p.Pro111=)
c.339A>C (p.Pro113=)
c.51A>C (p.Pro17=)
n.408A>C
3g.15641931A>GCA432649120BTDc.273A>G (p.Pro91=)
n.1112A>G
c.39A>G (p.Pro13=)
c.333A>G (p.Pro111=)
c.339A>G (p.Pro113=)
c.51A>G (p.Pro17=)
n.408A>G
3g.15641931A>TCA432649121BTDc.273A>T (p.Pro91=)
n.1112A>T
c.39A>T (p.Pro13=)
c.333A>T (p.Pro111=)
c.339A>T (p.Pro113=)
c.51A>T (p.Pro17=)
n.408A>T
3g.15641932G>ACA278189BTDc.274G>A (p.Glu92Lys)
n.1113G>A
c.40G>A (p.Glu14Lys)
c.334G>A (p.Glu112Lys)
c.340G>A (p.Glu114Lys)
c.52G>A (p.Glu18Lys)
n.409G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.15641932G>CCA278187BTDc.274G>C (p.Glu92Gln)
n.1113G>C
c.40G>C (p.Glu14Gln)
c.334G>C (p.Glu112Gln)
c.340G>C (p.Glu114Gln)
c.52G>C (p.Glu18Gln)
n.409G>C
 ClinVar dbSNP gnomAD v4
3g.15641932G=CA1347644780BTDc.274G= (p.Glu92=)
n.1113G=
c.40G= (p.Glu14=)
c.334G= (p.Glu112=)
c.340G= (p.Glu114=)
c.52G= (p.Glu18=)
n.409G=
3g.15641932G>TCA351605110BTDc.274G>T (p.Glu92Ter)
n.1113G>T
c.40G>T (p.Glu14Ter)
c.334G>T (p.Glu112Ter)
c.340G>T (p.Glu114Ter)
c.52G>T (p.Glu18Ter)
n.409G>T
3g.15641933A>CCA351605113BTDc.275A>C (p.Glu92Ala)
n.1114A>C
c.41A>C (p.Glu14Ala)
c.335A>C (p.Glu112Ala)
c.341A>C (p.Glu114Ala)
c.53A>C (p.Glu18Ala)
n.410A>C
3g.15641933A>GCA351605114BTDc.275A>G (p.Glu92Gly)
n.1114A>G
c.41A>G (p.Glu14Gly)
c.335A>G (p.Glu112Gly)
c.341A>G (p.Glu114Gly)
c.53A>G (p.Glu18Gly)
n.410A>G
3g.15641933A>TCA351605115BTDc.275A>T (p.Glu92Val)
n.1114A>T
c.41A>T (p.Glu14Val)
c.335A>T (p.Glu112Val)
c.341A>T (p.Glu114Val)
c.53A>T (p.Glu18Val)
n.410A>T
3g.15641934A>CCA351605117BTDc.276A>C (p.Glu92Asp)
n.1115A>C
c.42A>C (p.Glu14Asp)
c.336A>C (p.Glu112Asp)
c.342A>C (p.Glu114Asp)
c.54A>C (p.Glu18Asp)
n.411A>C
3g.15641934A>GCA432649122BTDc.276A>G (p.Glu92=)
n.1115A>G
c.42A>G (p.Glu14=)
c.336A>G (p.Glu112=)
c.342A>G (p.Glu114=)
c.54A>G (p.Glu18=)
n.411A>G
3g.15641934A>TCA351605118BTDc.276A>T (p.Glu92Asp)
n.1115A>T
c.42A>T (p.Glu14Asp)
c.336A>T (p.Glu112Asp)
c.342A>T (p.Glu114Asp)
c.54A>T (p.Glu18Asp)
n.411A>T
3g.15641935G>ACA351605121BTDc.277G>A (p.Asp93Asn)
n.1116G>A
c.43G>A (p.Asp15Asn)
c.337G>A (p.Asp113Asn)
c.343G>A (p.Asp115Asn)
c.55G>A (p.Asp19Asn)
n.412G>A
3g.15641935G>CCA351605123BTDc.277G>C (p.Asp93His)
n.1116G>C
c.43G>C (p.Asp15His)
c.337G>C (p.Asp113His)
c.343G>C (p.Asp115His)
c.55G>C (p.Asp19His)
n.412G>C
 gnomAD v4
3g.15641935G>TCA351605120BTDc.277G>T (p.Asp93Tyr)
n.1116G>T
c.43G>T (p.Asp15Tyr)
c.337G>T (p.Asp113Tyr)
c.343G>T (p.Asp115Tyr)
c.55G>T (p.Asp19Tyr)
n.412G>T
3g.15641936A=CA1347644788BTDc.278A= (p.Asp93=)
n.1117A=
c.44A= (p.Asp15=)
c.338A= (p.Asp113=)
c.344A= (p.Asp115=)
c.56A= (p.Asp19=)
n.413A=
3g.15641936A>CCA351605124BTDc.278A>C (p.Asp93Ala)
n.1117A>C
c.44A>C (p.Asp15Ala)
c.338A>C (p.Asp113Ala)
c.344A>C (p.Asp115Ala)
c.56A>C (p.Asp19Ala)
n.413A>C
3g.15641936A>GCA351605127BTDc.278A>G (p.Asp93Gly)
n.1117A>G
c.44A>G (p.Asp15Gly)
c.338A>G (p.Asp113Gly)
c.344A>G (p.Asp115Gly)
c.56A>G (p.Asp19Gly)
n.413A>G
 dbSNP gnomAD v2 gnomAD v4
3g.15641936A>TCA351605126BTDc.278A>T (p.Asp93Val)
n.1117A>T
c.44A>T (p.Asp15Val)
c.338A>T (p.Asp113Val)
c.344A>T (p.Asp115Val)
c.56A>T (p.Asp19Val)
n.413A>T
3g.15641937T>ACA351605129BTDc.279T>A (p.Asp93Glu)
n.1118T>A
c.45T>A (p.Asp15Glu)
c.339T>A (p.Asp113Glu)
c.345T>A (p.Asp115Glu)
c.57T>A (p.Asp19Glu)
n.414T>A
3g.15641937T>CCA2277297BTDc.279T>C (p.Asp93=)
n.1118T>C
c.45T>C (p.Asp15=)
c.339T>C (p.Asp113=)
c.345T>C (p.Asp115=)
c.57T>C (p.Asp19=)
n.414T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15641937T>GCA351605133BTDc.279T>G (p.Asp93Glu)
n.1118T>G
c.45T>G (p.Asp15Glu)
c.339T>G (p.Asp113Glu)
c.345T>G (p.Asp115Glu)
c.57T>G (p.Asp19Glu)
n.414T>G
3g.15641937T=CA1347644792BTDc.279T= (p.Asp93=)
n.1118T=
c.45T= (p.Asp15=)
c.339T= (p.Asp113=)
c.345T= (p.Asp115=)
c.57T= (p.Asp19=)
n.414T=
3g.15641938G>ACA351605134BTDc.280G>A (p.Gly94Ser)
n.1119G>A
c.46G>A (p.Gly16Ser)
c.340G>A (p.Gly114Ser)
c.346G>A (p.Gly116Ser)
c.58G>A (p.Gly20Ser)
n.415G>A
 gnomAD v4
3g.15641938G>CCA351605135BTDc.280G>C (p.Gly94Arg)
n.1119G>C
c.46G>C (p.Gly16Arg)
c.340G>C (p.Gly114Arg)
c.346G>C (p.Gly116Arg)
c.58G>C (p.Gly20Arg)
n.415G>C
3g.15641938G>TCA351605137BTDc.280G>T (p.Gly94Cys)
n.1119G>T
c.46G>T (p.Gly16Cys)
c.340G>T (p.Gly114Cys)
c.346G>T (p.Gly116Cys)
c.58G>T (p.Gly20Cys)
n.415G>T
3g.15641939G>ACA351605139BTDc.281G>A (p.Gly94Asp)
n.1120G>A
c.47G>A (p.Gly16Asp)
c.341G>A (p.Gly114Asp)
c.347G>A (p.Gly116Asp)
c.59G>A (p.Gly20Asp)
n.416G>A
3g.15641939G>CCA351605141BTDc.281G>C (p.Gly94Ala)
n.1120G>C
c.47G>C (p.Gly16Ala)
c.341G>C (p.Gly114Ala)
c.347G>C (p.Gly116Ala)
c.59G>C (p.Gly20Ala)
n.416G>C
3g.15641939G=CA1347644794BTDc.281G= (p.Gly94=)
n.1120G=
c.47G= (p.Gly16=)
c.341G= (p.Gly114=)
c.347G= (p.Gly116=)
c.59G= (p.Gly20=)
n.416G=
3g.15641939G>TCA278191BTDc.281G>T (p.Gly94Val)
n.1120G>T
c.47G>T (p.Gly16Val)
c.341G>T (p.Gly114Val)
c.347G>T (p.Gly116Val)
c.59G>T (p.Gly20Val)
n.416G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.15641939_15641940delinsGCCA1347644795BTDc.281_282delinsGC (p.Gly94=)
n.1120_1121delinsGC
c.47_48delinsGC (p.Gly16=)
c.341_342delinsGC (p.Gly114=)
c.347_348delinsGC (p.Gly116=)
c.59_60delinsGC (p.Gly20=)
n.416_417delinsGC
3g.15641940delCA1139655727BTDc.282del (p.Ile95PhefsTer?)
n.1121del
c.48del (p.Ile17PhefsTer?)
c.342del (p.Ile115PhefsTer?)
c.348del (p.Ile117PhefsTer?)
c.60del (p.Ile21PhefsTer?)
n.417del
 ClinVar dbSNP
3g.15641940C>ACA432649123BTDc.282C>A (p.Gly94=)
n.1121C>A
c.48C>A (p.Gly16=)
c.342C>A (p.Gly114=)
c.348C>A (p.Gly116=)
c.60C>A (p.Gly20=)
n.417C>A
 gnomAD v4
3g.15641940C>GCA432649124BTDc.282C>G (p.Gly94=)
n.1121C>G
c.48C>G (p.Gly16=)
c.342C>G (p.Gly114=)
c.348C>G (p.Gly116=)
c.60C>G (p.Gly20=)
n.417C>G
3g.15641940C>TCA432649125BTDc.282C>T (p.Gly94=)
n.1121C>T
c.48C>T (p.Gly16=)
c.342C>T (p.Gly114=)
c.348C>T (p.Gly116=)
c.60C>T (p.Gly20=)
n.417C>T
3g.15641941A=CA1347644801BTDc.283A= (p.Ile95=)
n.1122A=
c.49A= (p.Ile17=)
c.343A= (p.Ile115=)
c.349A= (p.Ile117=)
c.61A= (p.Ile21=)
n.418A=
3g.15641941A>CCA351605144BTDc.283A>C (p.Ile95Leu)
n.1122A>C
c.49A>C (p.Ile17Leu)
c.343A>C (p.Ile115Leu)
c.349A>C (p.Ile117Leu)
c.61A>C (p.Ile21Leu)
n.418A>C
3g.15641941A>GCA351605146BTDc.283A>G (p.Ile95Val)
n.1122A>G
c.49A>G (p.Ile17Val)
c.343A>G (p.Ile115Val)
c.349A>G (p.Ile117Val)
c.61A>G (p.Ile21Val)
n.418A>G
 dbSNP gnomAD v2 gnomAD v4
3g.15641941A>TCA351605147BTDc.283A>T (p.Ile95Phe)
n.1122A>T
c.49A>T (p.Ile17Phe)
c.343A>T (p.Ile115Phe)
c.349A>T (p.Ile117Phe)
c.61A>T (p.Ile21Phe)
n.418A>T
3g.15641942T>ACA351605149BTDc.284T>A (p.Ile95Asn)
n.1123T>A
c.50T>A (p.Ile17Asn)
c.344T>A (p.Ile115Asn)
c.350T>A (p.Ile117Asn)
c.62T>A (p.Ile21Asn)
n.419T>A
3g.15641942T>CCA351605153BTDc.284T>C (p.Ile95Thr)
n.1123T>C
c.50T>C (p.Ile17Thr)
c.344T>C (p.Ile115Thr)
c.350T>C (p.Ile117Thr)
c.62T>C (p.Ile21Thr)
n.419T>C
3g.15641942T>GCA351605151BTDc.284T>G (p.Ile95Ser)
n.1123T>G
c.50T>G (p.Ile17Ser)
c.344T>G (p.Ile115Ser)
c.350T>G (p.Ile117Ser)
c.62T>G (p.Ile21Ser)
n.419T>G
3g.15641943T>ACA432649126BTDc.285T>A (p.Ile95=)
n.1124T>A
c.51T>A (p.Ile17=)
c.345T>A (p.Ile115=)
c.351T>A (p.Ile117=)
c.63T>A (p.Ile21=)
n.420T>A
3g.15641943T>CCA432649127BTDc.285T>C (p.Ile95=)
n.1124T>C
c.51T>C (p.Ile17=)
c.345T>C (p.Ile115=)
c.351T>C (p.Ile117=)
c.63T>C (p.Ile21=)
n.420T>C
3g.15641943T>GCA351605157BTDc.285T>G (p.Ile95Met)
n.1124T>G
c.51T>G (p.Ile17Met)
c.345T>G (p.Ile115Met)
c.351T>G (p.Ile117Met)
c.63T>G (p.Ile21Met)
n.420T>G
3g.15641944C>ACA351605159BTDc.286C>A (p.His96Asn)
n.1125C>A
c.52C>A (p.His18Asn)
c.346C>A (p.His116Asn)
c.352C>A (p.His118Asn)
c.64C>A (p.His22Asn)
n.421C>A
3g.15641944C=CA1347644803BTDc.286C= (p.His96=)
n.1125C=
c.52C= (p.His18=)
c.346C= (p.His116=)
c.352C= (p.His118=)
c.64C= (p.His22=)
n.421C=
3g.15641944C>GCA351605161BTDc.286C>G (p.His96Asp)
n.1125C>G
c.52C>G (p.His18Asp)
c.346C>G (p.His116Asp)
c.352C>G (p.His118Asp)
c.64C>G (p.His22Asp)
n.421C>G
3g.15641944C>TCA2277298BTDc.286C>T (p.His96Tyr)
n.1125C>T
c.52C>T (p.His18Tyr)
c.346C>T (p.His116Tyr)
c.352C>T (p.His118Tyr)
c.64C>T (p.His22Tyr)
n.421C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.15641945A>CCA351605164BTDc.287A>C (p.His96Pro)
n.1126A>C
c.53A>C (p.His18Pro)
c.347A>C (p.His116Pro)
c.353A>C (p.His118Pro)
c.65A>C (p.His22Pro)
n.422A>C
3g.15641945A>GCA351605166BTDc.287A>G (p.His96Arg)
n.1126A>G
c.53A>G (p.His18Arg)
c.347A>G (p.His116Arg)
c.353A>G (p.His118Arg)
c.65A>G (p.His22Arg)
n.422A>G
 gnomAD v4
3g.15641945A>TCA351605168BTDc.287A>T (p.His96Leu)
n.1126A>T
c.53A>T (p.His18Leu)
c.347A>T (p.His116Leu)
c.353A>T (p.His118Leu)
c.65A>T (p.His22Leu)
n.422A>T
3g.15641946T>ACA351605170BTDc.288T>A (p.His96Gln)
n.1127T>A
c.54T>A (p.His18Gln)
c.348T>A (p.His116Gln)
c.354T>A (p.His118Gln)
c.66T>A (p.His22Gln)
n.423T>A
3g.15641946T>CCA432649128BTDc.288T>C (p.His96=)
n.1127T>C
c.54T>C (p.His18=)
c.348T>C (p.His116=)
c.354T>C (p.His118=)
c.66T>C (p.His22=)
n.423T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15641946T>GCA351605172BTDc.288T>G (p.His96Gln)
n.1127T>G
c.54T>G (p.His18Gln)
c.348T>G (p.His116Gln)
c.354T>G (p.His118Gln)
c.66T>G (p.His22Gln)
n.423T>G
3g.15641946T=CA1347644805BTDc.288T= (p.His96=)
n.1127T=
c.54T= (p.His18=)
c.348T= (p.His116=)
c.354T= (p.His118=)
c.66T= (p.His22=)
n.423T=
3g.15641947G>ACA351605176BTDc.289G>A (p.Gly97Arg)
n.1128G>A
c.55G>A (p.Gly19Arg)
c.349G>A (p.Gly117Arg)
c.355G>A (p.Gly119Arg)
c.67G>A (p.Gly23Arg)
n.424G>A
3g.15641947G>CCA351605178BTDc.289G>C (p.Gly97Arg)
n.1128G>C
c.55G>C (p.Gly19Arg)
c.349G>C (p.Gly117Arg)
c.355G>C (p.Gly119Arg)
c.67G>C (p.Gly23Arg)
n.424G>C
3g.15641947G>TCA351605174BTDc.289G>T (p.Gly97Ter)
n.1128G>T
c.55G>T (p.Gly19Ter)
c.349G>T (p.Gly117Ter)
c.355G>T (p.Gly119Ter)
c.67G>T (p.Gly23Ter)
n.424G>T
3g.15641948G>ACA351605181BTDc.290G>A (p.Gly97Glu)
n.1129G>A
c.56G>A (p.Gly19Glu)
c.350G>A (p.Gly117Glu)
c.356G>A (p.Gly119Glu)
c.68G>A (p.Gly23Glu)
n.425G>A
3g.15641948G>CCA351605183BTDc.290G>C (p.Gly97Ala)
n.1129G>C
c.56G>C (p.Gly19Ala)
c.350G>C (p.Gly117Ala)
c.356G>C (p.Gly119Ala)
c.68G>C (p.Gly23Ala)
n.425G>C
3g.15641948G>TCA351605184BTDc.290G>T (p.Gly97Val)
n.1129G>T
c.56G>T (p.Gly19Val)
c.350G>T (p.Gly117Val)
c.356G>T (p.Gly119Val)
c.68G>T (p.Gly23Val)
n.425G>T
3g.15641949A>CCA432649129BTDc.291A>C (p.Gly97=)
n.1130A>C
c.57A>C (p.Gly19=)
c.351A>C (p.Gly117=)
c.357A>C (p.Gly119=)
c.69A>C (p.Gly23=)
n.426A>C
3g.15641949A>GCA432649131BTDc.291A>G (p.Gly97=)
n.1130A>G
c.57A>G (p.Gly19=)
c.351A>G (p.Gly117=)
c.357A>G (p.Gly119=)
c.69A>G (p.Gly23=)
n.426A>G
 ClinVar
3g.15641949A>TCA432649130BTDc.291A>T (p.Gly97=)
n.1130A>T
c.57A>T (p.Gly19=)
c.351A>T (p.Gly117=)
c.357A>T (p.Gly119=)
c.69A>T (p.Gly23=)
n.426A>T
3g.15641950T>ACA351605185BTDc.292T>A (p.Phe98Ile)
n.1131T>A
c.58T>A (p.Phe20Ile)
c.352T>A (p.Phe118Ile)
c.358T>A (p.Phe120Ile)
c.70T>A (p.Phe24Ile)
n.427T>A
3g.15641950T>CCA351605186BTDc.292T>C (p.Phe98Leu)
n.1131T>C
c.58T>C (p.Phe20Leu)
c.352T>C (p.Phe118Leu)
c.358T>C (p.Phe120Leu)
c.70T>C (p.Phe24Leu)
n.427T>C
3g.15641950T>GCA351605187BTDc.292T>G (p.Phe98Val)
n.1131T>G
c.58T>G (p.Phe20Val)
c.352T>G (p.Phe118Val)
c.358T>G (p.Phe120Val)
c.70T>G (p.Phe24Val)
n.427T>G
3g.15641951T>ACA351605189BTDc.293T>A (p.Phe98Tyr)
n.1132T>A
c.59T>A (p.Phe20Tyr)
c.353T>A (p.Phe118Tyr)
c.359T>A (p.Phe120Tyr)
c.71T>A (p.Phe24Tyr)
n.428T>A
3g.15641951T>CCA351605191BTDc.293T>C (p.Phe98Ser)
n.1132T>C
c.59T>C (p.Phe20Ser)
c.353T>C (p.Phe118Ser)
c.359T>C (p.Phe120Ser)
c.71T>C (p.Phe24Ser)
n.428T>C
3g.15641951T>GCA351605192BTDc.293T>G (p.Phe98Cys)
n.1132T>G
c.59T>G (p.Phe20Cys)
c.353T>G (p.Phe118Cys)
c.359T>G (p.Phe120Cys)
c.71T>G (p.Phe24Cys)
n.428T>G
3g.15641952C>ACA351605194BTDc.294C>A (p.Phe98Leu)
n.1133C>A
c.60C>A (p.Phe20Leu)
c.354C>A (p.Phe118Leu)
c.360C>A (p.Phe120Leu)
c.72C>A (p.Phe24Leu)
n.429C>A
3g.15641952C>GCA351605196BTDc.294C>G (p.Phe98Leu)
n.1133C>G
c.60C>G (p.Phe20Leu)
c.354C>G (p.Phe118Leu)
c.360C>G (p.Phe120Leu)
c.72C>G (p.Phe24Leu)
n.429C>G
3g.15641952C>TCA432649132BTDc.294C>T (p.Phe98=)
n.1133C>T
c.60C>T (p.Phe20=)
c.354C>T (p.Phe118=)
c.360C>T (p.Phe120=)
c.72C>T (p.Phe24=)
n.429C>T
3g.15641953A>CCA351605200BTDc.295A>C (p.Asn99His)
n.1134A>C
c.61A>C (p.Asn21His)
c.355A>C (p.Asn119His)
c.361A>C (p.Asn121His)
c.73A>C (p.Asn25His)
n.430A>C
3g.15641953A>GCA351605202BTDc.295A>G (p.Asn99Asp)
n.1134A>G
c.61A>G (p.Asn21Asp)
c.355A>G (p.Asn119Asp)
c.361A>G (p.Asn121Asp)
c.73A>G (p.Asn25Asp)
n.430A>G
3g.15641953A>TCA351605198BTDc.295A>T (p.Asn99Tyr)
n.1134A>T
c.61A>T (p.Asn21Tyr)
c.355A>T (p.Asn119Tyr)
c.361A>T (p.Asn121Tyr)
c.73A>T (p.Asn25Tyr)
n.430A>T
3g.15641954A=CA1347644808BTDc.296A= (p.Asn99=)
n.1135A=
c.62A= (p.Asn21=)
c.356A= (p.Asn119=)
c.362A= (p.Asn121=)
c.74A= (p.Asn25=)
n.431A=
3g.15641954A>CCA351605205BTDc.296A>C (p.Asn99Thr)
n.1135A>C
c.62A>C (p.Asn21Thr)
c.356A>C (p.Asn119Thr)
c.362A>C (p.Asn121Thr)
c.74A>C (p.Asn25Thr)
n.431A>C
3g.15641954A>GCA278193BTDc.296A>G (p.Asn99Ser)
n.1135A>G
c.62A>G (p.Asn21Ser)
c.356A>G (p.Asn119Ser)
c.362A>G (p.Asn121Ser)
c.74A>G (p.Asn25Ser)
n.431A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15641954A>TCA351605210BTDc.296A>T (p.Asn99Ile)
n.1135A>T
c.62A>T (p.Asn21Ile)
c.356A>T (p.Asn119Ile)
c.362A>T (p.Asn121Ile)
c.74A>T (p.Asn25Ile)
n.431A>T
3g.15641955_15641964delCA913203558BTDc.297_306del (p.Asn99LysfsTer?)
n.1136_1145del
c.63_72del (p.Asn21LysfsTer?)
c.357_366del (p.Asn119LysfsTer?)
c.363_372del (p.Asn121LysfsTer?)
c.75_84del (p.Asn25LysfsTer?)
n.432_441del
3g.15641955C>ACA351605213BTDc.297C>A (p.Asn99Lys)
n.1136C>A
c.63C>A (p.Asn21Lys)
c.357C>A (p.Asn119Lys)
c.363C>A (p.Asn121Lys)
c.75C>A (p.Asn25Lys)
n.432C>A
3g.15641955C=CA1347644814BTDc.297C= (p.Asn99=)
n.1136C=
c.63C= (p.Asn21=)
c.357C= (p.Asn119=)
c.363C= (p.Asn121=)
c.75C= (p.Asn25=)
n.432C=
3g.15641955C>GCA351605216BTDc.297C>G (p.Asn99Lys)
n.1136C>G
c.63C>G (p.Asn21Lys)
c.357C>G (p.Asn119Lys)
c.363C>G (p.Asn121Lys)
c.75C>G (p.Asn25Lys)
n.432C>G
3g.15641955C>TCA70619197BTDc.297C>T (p.Asn99=)
n.1136C>T
c.63C>T (p.Asn21=)
c.357C>T (p.Asn119=)
c.363C>T (p.Asn121=)
c.75C>T (p.Asn25=)
n.432C>T
 dbSNP gnomAD v4
3g.15641956T>ACA351605224BTDc.298T>A (p.Phe100Ile)
n.1137T>A
c.64T>A (p.Phe22Ile)
c.358T>A (p.Phe120Ile)
c.364T>A (p.Phe122Ile)
c.76T>A (p.Phe26Ile)
n.433T>A
3g.15641956T>CCA351605219BTDc.298T>C (p.Phe100Leu)
n.1137T>C
c.64T>C (p.Phe22Leu)
c.358T>C (p.Phe120Leu)
c.364T>C (p.Phe122Leu)
c.76T>C (p.Phe26Leu)
n.433T>C
3g.15641956T>GCA351605222BTDc.298T>G (p.Phe100Val)
n.1137T>G
c.64T>G (p.Phe22Val)
c.358T>G (p.Phe120Val)
c.364T>G (p.Phe122Val)
c.76T>G (p.Phe26Val)
n.433T>G
3g.15641957T>ACA351605245BTDc.299T>A (p.Phe100Tyr)
n.1138T>A
c.65T>A (p.Phe22Tyr)
c.359T>A (p.Phe120Tyr)
c.365T>A (p.Phe122Tyr)
c.77T>A (p.Phe26Tyr)
n.434T>A
3g.15641957T>CCA351605247BTDc.299T>C (p.Phe100Ser)
n.1138T>C
c.65T>C (p.Phe22Ser)
c.359T>C (p.Phe120Ser)
c.365T>C (p.Phe122Ser)
c.77T>C (p.Phe26Ser)
n.434T>C
 gnomAD v4
3g.15641957T>GCA351605249BTDc.299T>G (p.Phe100Cys)
n.1138T>G
c.65T>G (p.Phe22Cys)
c.359T>G (p.Phe120Cys)
c.365T>G (p.Phe122Cys)
c.77T>G (p.Phe26Cys)
n.434T>G
3g.15641958T>ACA351605252BTDc.300T>A (p.Phe100Leu)
n.1139T>A
c.66T>A (p.Phe22Leu)
c.360T>A (p.Phe120Leu)
c.366T>A (p.Phe122Leu)
c.78T>A (p.Phe26Leu)
n.435T>A
3g.15641958T>CCA432649133BTDc.300T>C (p.Phe100=)
n.1139T>C
c.66T>C (p.Phe22=)
c.360T>C (p.Phe120=)
c.366T>C (p.Phe122=)
c.78T>C (p.Phe26=)
n.435T>C
3g.15641958T>GCA351605255BTDc.300T>G (p.Phe100Leu)
n.1139T>G
c.66T>G (p.Phe22Leu)
c.360T>G (p.Phe120Leu)
c.366T>G (p.Phe122Leu)
c.78T>G (p.Phe26Leu)
n.435T>G
3g.15641959A>CCA351605265BTDc.301A>C (p.Thr101Pro)
n.1140A>C
c.67A>C (p.Thr23Pro)
c.361A>C (p.Thr121Pro)
c.367A>C (p.Thr123Pro)
c.79A>C (p.Thr27Pro)
n.436A>C
3g.15641959A>GCA351605261BTDc.301A>G (p.Thr101Ala)
n.1140A>G
c.67A>G (p.Thr23Ala)
c.361A>G (p.Thr121Ala)
c.367A>G (p.Thr123Ala)
c.79A>G (p.Thr27Ala)
n.436A>G
3g.15641959A>TCA351605259BTDc.301A>T (p.Thr101Ser)
n.1140A>T
c.67A>T (p.Thr23Ser)
c.361A>T (p.Thr121Ser)
c.367A>T (p.Thr123Ser)
c.79A>T (p.Thr27Ser)
n.436A>T
3g.15641960C>ACA351605268BTDc.302C>A (p.Thr101Lys)
n.1141C>A
c.68C>A (p.Thr23Lys)
c.362C>A (p.Thr121Lys)
c.368C>A (p.Thr123Lys)
c.80C>A (p.Thr27Lys)
n.437C>A
3g.15641960C=CA1347644821BTDc.302C= (p.Thr101=)
n.1141C=
c.68C= (p.Thr23=)
c.362C= (p.Thr121=)
c.368C= (p.Thr123=)
c.80C= (p.Thr27=)
n.437C=
3g.15641960C>GCA351605274BTDc.302C>G (p.Thr101Arg)
n.1141C>G
c.68C>G (p.Thr23Arg)
c.362C>G (p.Thr121Arg)
c.368C>G (p.Thr123Arg)
c.80C>G (p.Thr27Arg)
n.437C>G
 dbSNP
3g.15641960C>TCA2277299BTDc.302C>T (p.Thr101Ile)
n.1141C>T
c.68C>T (p.Thr23Ile)
c.362C>T (p.Thr121Ile)
c.368C>T (p.Thr123Ile)
c.80C>T (p.Thr27Ile)
n.437C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15641961A>CCA432649134BTDc.303A>C (p.Thr101=)
n.1142A>C
c.69A>C (p.Thr23=)
c.363A>C (p.Thr121=)
c.369A>C (p.Thr123=)
c.81A>C (p.Thr27=)
n.438A>C
3g.15641961A>GCA432649135BTDc.303A>G (p.Thr101=)
n.1142A>G
c.69A>G (p.Thr23=)
c.363A>G (p.Thr121=)
c.369A>G (p.Thr123=)
c.81A>G (p.Thr27=)
n.438A>G
3g.15641961A>TCA432649136BTDc.303A>T (p.Thr101=)
n.1142A>T
c.69A>T (p.Thr23=)
c.363A>T (p.Thr121=)
c.369A>T (p.Thr123=)
c.81A>T (p.Thr27=)
n.438A>T
3g.15641962A=CA1347644828BTDc.304A= (p.Arg102=)
n.1143A=
c.70A= (p.Arg24=)
c.364A= (p.Arg122=)
c.370A= (p.Arg124=)
c.82A= (p.Arg28=)
n.439A=
3g.15641962A>CCA432649137BTDc.304A>C (p.Arg102=)
n.1143A>C
c.70A>C (p.Arg24=)
c.364A>C (p.Arg122=)
c.370A>C (p.Arg124=)
c.82A>C (p.Arg28=)
n.439A>C
3g.15641962A>GCA278195BTDc.304A>G (p.Arg102Gly)
n.1143A>G
c.70A>G (p.Arg24Gly)
c.364A>G (p.Arg122Gly)
c.370A>G (p.Arg124Gly)
c.82A>G (p.Arg28Gly)
n.439A>G
 ClinVar dbSNP gnomAD v4
3g.15641962A>TCA351605276BTDc.304A>T (p.Arg102Ter)
n.1143A>T
c.70A>T (p.Arg24Ter)
c.364A>T (p.Arg122Ter)
c.370A>T (p.Arg124Ter)
c.82A>T (p.Arg28Ter)
n.439A>T
3g.15641963G>ACA351605280BTDc.305G>A (p.Arg102Lys)
n.1144G>A
c.71G>A (p.Arg24Lys)
c.365G>A (p.Arg122Lys)
c.371G>A (p.Arg124Lys)
c.83G>A (p.Arg28Lys)
n.440G>A
3g.15641963G>CCA351605282BTDc.305G>C (p.Arg102Thr)
n.1144G>C
c.71G>C (p.Arg24Thr)
c.365G>C (p.Arg122Thr)
c.371G>C (p.Arg124Thr)
c.83G>C (p.Arg28Thr)
n.440G>C
3g.15641963G>TCA351605285BTDc.305G>T (p.Arg102Ile)
n.1144G>T
c.71G>T (p.Arg24Ile)
c.365G>T (p.Arg122Ile)
c.371G>T (p.Arg124Ile)
c.83G>T (p.Arg28Ile)
n.440G>T
3g.15641964A>CCA351605288BTDc.306A>C (p.Arg102Ser)
n.1145A>C
c.72A>C (p.Arg24Ser)
c.366A>C (p.Arg122Ser)
c.372A>C (p.Arg124Ser)
c.84A>C (p.Arg28Ser)
n.441A>C
3g.15641964A>GCA432649138BTDc.306A>G (p.Arg102=)
n.1145A>G
c.72A>G (p.Arg24=)
c.366A>G (p.Arg122=)
c.372A>G (p.Arg124=)
c.84A>G (p.Arg28=)
n.441A>G
3g.15641964A>TCA351605290BTDc.306A>T (p.Arg102Ser)
n.1145A>T
c.72A>T (p.Arg24Ser)
c.366A>T (p.Arg122Ser)
c.372A>T (p.Arg124Ser)
c.84A>T (p.Arg28Ser)
n.441A>T
3g.15641965A=CA1347644833BTDc.307A= (p.Thr103=)
n.1146A=
c.73A= (p.Thr25=)
c.367A= (p.Thr123=)
c.373A= (p.Thr125=)
c.85A= (p.Thr29=)
n.442A=
3g.15641965A>CCA351605293BTDc.307A>C (p.Thr103Pro)
n.1146A>C
c.73A>C (p.Thr25Pro)
c.367A>C (p.Thr123Pro)
c.373A>C (p.Thr125Pro)
c.85A>C (p.Thr29Pro)
n.442A>C
3g.15641965A>GCA2277300BTDc.307A>G (p.Thr103Ala)
n.1146A>G
c.73A>G (p.Thr25Ala)
c.367A>G (p.Thr123Ala)
c.373A>G (p.Thr125Ala)
c.85A>G (p.Thr29Ala)
n.442A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.15641965A>TCA351605297BTDc.307A>T (p.Thr103Ser)
n.1146A>T
c.73A>T (p.Thr25Ser)
c.367A>T (p.Thr123Ser)
c.373A>T (p.Thr125Ser)
c.85A>T (p.Thr29Ser)
n.442A>T
3g.15641966C>ACA351605300BTDc.308C>A (p.Thr103Lys)
n.1147C>A
c.74C>A (p.Thr25Lys)
c.368C>A (p.Thr123Lys)
c.374C>A (p.Thr125Lys)
c.86C>A (p.Thr29Lys)
n.443C>A
3g.15641966C>GCA351605302BTDc.308C>G (p.Thr103Arg)
n.1147C>G
c.74C>G (p.Thr25Arg)
c.368C>G (p.Thr123Arg)
c.374C>G (p.Thr125Arg)
c.86C>G (p.Thr29Arg)
n.443C>G
3g.15641966C>TCA351605305BTDc.308C>T (p.Thr103Ile)
n.1147C>T
c.74C>T (p.Thr25Ile)
c.368C>T (p.Thr123Ile)
c.374C>T (p.Thr125Ile)
c.86C>T (p.Thr29Ile)
n.443C>T
3g.15641967A>CCA432649139BTDc.309A>C (p.Thr103=)
n.1148A>C
c.75A>C (p.Thr25=)
c.369A>C (p.Thr123=)
c.375A>C (p.Thr125=)
c.87A>C (p.Thr29=)
n.444A>C
3g.15641967A>GCA432649140BTDc.309A>G (p.Thr103=)
n.1148A>G
c.75A>G (p.Thr25=)
c.369A>G (p.Thr123=)
c.375A>G (p.Thr125=)
c.87A>G (p.Thr29=)
n.444A>G
3g.15641967A>TCA432649141BTDc.309A>T (p.Thr103=)
n.1148A>T
c.75A>T (p.Thr25=)
c.369A>T (p.Thr123=)
c.375A>T (p.Thr125=)
c.87A>T (p.Thr29=)
n.444A>T
 COSMIC
3g.15641968T>ACA351605312BTDc.310T>A (p.Ser104Thr)
n.1149T>A
c.76T>A (p.Ser26Thr)
c.370T>A (p.Ser124Thr)
c.376T>A (p.Ser126Thr)
c.88T>A (p.Ser30Thr)
n.445T>A
 gnomAD v4
3g.15641968T>CCA351605310BTDc.310T>C (p.Ser104Pro)
n.1149T>C
c.76T>C (p.Ser26Pro)
c.370T>C (p.Ser124Pro)
c.376T>C (p.Ser126Pro)
c.88T>C (p.Ser30Pro)
n.445T>C
 COSMIC
3g.15641968T>GCA351605308BTDc.310T>G (p.Ser104Ala)
n.1149T>G
c.76T>G (p.Ser26Ala)
c.370T>G (p.Ser124Ala)
c.376T>G (p.Ser126Ala)
c.88T>G (p.Ser30Ala)
n.445T>G
3g.15641969C>ACA351605315BTDc.311C>A (p.Ser104Tyr)
n.1150C>A
c.77C>A (p.Ser26Tyr)
c.371C>A (p.Ser124Tyr)
c.377C>A (p.Ser126Tyr)
c.89C>A (p.Ser30Tyr)
n.446C>A
3g.15641969C=CA1347644835BTDc.311C= (p.Ser104=)
n.1150C=
c.77C= (p.Ser26=)
c.371C= (p.Ser124=)
c.377C= (p.Ser126=)
c.89C= (p.Ser30=)
n.446C=
3g.15641969C>GCA351605318BTDc.311C>G (p.Ser104Cys)
n.1150C>G
c.77C>G (p.Ser26Cys)
c.371C>G (p.Ser124Cys)
c.377C>G (p.Ser126Cys)
c.89C>G (p.Ser30Cys)
n.446C>G
3g.15641969C>TCA351605319BTDc.311C>T (p.Ser104Phe)
n.1150C>T
c.77C>T (p.Ser26Phe)
c.371C>T (p.Ser124Phe)
c.377C>T (p.Ser126Phe)
c.89C>T (p.Ser30Phe)
n.446C>T
3g.15641970C>ACA432649143BTDc.312C>A (p.Ser104=)
n.1151C>A
c.78C>A (p.Ser26=)
c.372C>A (p.Ser124=)
c.378C>A (p.Ser126=)
c.90C>A (p.Ser30=)
n.447C>A
3g.15641970C>GCA432649144BTDc.312C>G (p.Ser104=)
n.1151C>G
c.78C>G (p.Ser26=)
c.372C>G (p.Ser124=)
c.378C>G (p.Ser126=)
c.90C>G (p.Ser30=)
n.447C>G
3g.15641970C>TCA432649145BTDc.312C>T (p.Ser104=)
n.1151C>T
c.78C>T (p.Ser26=)
c.372C>T (p.Ser124=)
c.378C>T (p.Ser126=)
c.90C>T (p.Ser30=)
n.447C>T
3g.15641970_15641973dupCA16040910BTDc.312_315dup (p.Tyr106HisfsTer27)
n.1151_1154dup
c.78_81dup (p.Tyr28HisfsTer27)
c.372_375dup (p.Tyr126HisfsTer27)
c.378_381dup (p.Tyr128HisfsTer27)
c.90_93dup (p.Tyr32HisfsTer27)
n.447_450dup
 ClinVar dbSNP
3g.15641971A=CA1347644845BTDc.313A= (p.Ile105=)
n.1152A=
c.79A= (p.Ile27=)
c.373A= (p.Ile125=)
c.379A= (p.Ile127=)
c.91A= (p.Ile31=)
n.448A=
3g.15641971A>CCA351605325BTDc.313A>C (p.Ile105Leu)
n.1152A>C
c.79A>C (p.Ile27Leu)
c.373A>C (p.Ile125Leu)
c.379A>C (p.Ile127Leu)
c.91A>C (p.Ile31Leu)
n.448A>C
3g.15641971A>GCA351605327BTDc.313A>G (p.Ile105Val)
n.1152A>G
c.79A>G (p.Ile27Val)
c.373A>G (p.Ile125Val)
c.379A>G (p.Ile127Val)
c.91A>G (p.Ile31Val)
n.448A>G
 dbSNP gnomAD v3 gnomAD v4
3g.15641971A>TCA351605331BTDc.313A>T (p.Ile105Phe)
n.1152A>T
c.79A>T (p.Ile27Phe)
c.373A>T (p.Ile125Phe)
c.379A>T (p.Ile127Phe)
c.91A>T (p.Ile31Phe)
n.448A>T
3g.15641972T>ACA351605334BTDc.314T>A (p.Ile105Asn)
n.1153T>A
c.80T>A (p.Ile27Asn)
c.374T>A (p.Ile125Asn)
c.380T>A (p.Ile127Asn)
c.92T>A (p.Ile31Asn)
n.449T>A
3g.15641972T>CCA351605336BTDc.314T>C (p.Ile105Thr)
n.1153T>C
c.80T>C (p.Ile27Thr)
c.374T>C (p.Ile125Thr)
c.380T>C (p.Ile127Thr)
c.92T>C (p.Ile31Thr)
n.449T>C
3g.15641972T>GCA351605339BTDc.314T>G (p.Ile105Ser)
n.1153T>G
c.80T>G (p.Ile27Ser)
c.374T>G (p.Ile125Ser)
c.380T>G (p.Ile127Ser)
c.92T>G (p.Ile31Ser)
n.449T>G
3g.15641973T>ACA432649150BTDc.315T>A (p.Ile105=)
n.1154T>A
c.81T>A (p.Ile27=)
c.375T>A (p.Ile125=)
c.381T>A (p.Ile127=)
c.93T>A (p.Ile31=)
n.450T>A
3g.15641973T>CCA432649147BTDc.315T>C (p.Ile105=)
n.1154T>C
c.81T>C (p.Ile27=)
c.375T>C (p.Ile125=)
c.381T>C (p.Ile127=)
c.93T>C (p.Ile31=)
n.450T>C
3g.15641973T>GCA351605342BTDc.315T>G (p.Ile105Met)
n.1154T>G
c.81T>G (p.Ile27Met)
c.375T>G (p.Ile125Met)
c.381T>G (p.Ile127Met)
c.93T>G (p.Ile31Met)
n.450T>G
 dbSNP
3g.15641973T=CA1347644847BTDc.315T= (p.Ile105=)
n.1154T=
c.81T= (p.Ile27=)
c.375T= (p.Ile125=)
c.381T= (p.Ile127=)
c.93T= (p.Ile31=)
n.450T=
3g.15641974T>ACA351605349BTDc.316T>A (p.Tyr106Asn)
n.1155T>A
c.82T>A (p.Tyr28Asn)
c.376T>A (p.Tyr126Asn)
c.382T>A (p.Tyr128Asn)
c.94T>A (p.Tyr32Asn)
n.451T>A
3g.15641974T>CCA351605347BTDc.316T>C (p.Tyr106His)
n.1155T>C
c.82T>C (p.Tyr28His)
c.376T>C (p.Tyr126His)
c.382T>C (p.Tyr128His)
c.94T>C (p.Tyr32His)
n.451T>C
3g.15641974T>GCA351605344BTDc.316T>G (p.Tyr106Asp)
n.1155T>G
c.82T>G (p.Tyr28Asp)
c.376T>G (p.Tyr126Asp)
c.382T>G (p.Tyr128Asp)
c.94T>G (p.Tyr32Asp)
n.451T>G
3g.15641975A>CCA351605354BTDc.317A>C (p.Tyr106Ser)
n.1156A>C
c.83A>C (p.Tyr28Ser)
c.377A>C (p.Tyr126Ser)
c.383A>C (p.Tyr128Ser)
c.95A>C (p.Tyr32Ser)
n.452A>C
3g.15641975A>GCA351605361BTDc.317A>G (p.Tyr106Cys)
n.1156A>G
c.83A>G (p.Tyr28Cys)
c.377A>G (p.Tyr126Cys)
c.383A>G (p.Tyr128Cys)
c.95A>G (p.Tyr32Cys)
n.452A>G
 gnomAD v4
3g.15641975A>TCA351605363BTDc.317A>T (p.Tyr106Phe)
n.1156A>T
c.83A>T (p.Tyr28Phe)
c.377A>T (p.Tyr126Phe)
c.383A>T (p.Tyr128Phe)
c.95A>T (p.Tyr32Phe)
n.452A>T
 gnomAD v4
3g.15641976T>ACA351605366BTDc.318T>A (p.Tyr106Ter)
n.1157T>A
c.84T>A (p.Tyr28Ter)
c.378T>A (p.Tyr126Ter)
c.384T>A (p.Tyr128Ter)
c.96T>A (p.Tyr32Ter)
n.453T>A
3g.15641976T>CCA432649152BTDc.318T>C (p.Tyr106=)
n.1157T>C
c.84T>C (p.Tyr28=)
c.378T>C (p.Tyr126=)
c.384T>C (p.Tyr128=)
c.96T>C (p.Tyr32=)
n.453T>C
 dbSNP
3g.15641976T>GCA351605368BTDc.318T>G (p.Tyr106Ter)
n.1157T>G
c.84T>G (p.Tyr28Ter)
c.378T>G (p.Tyr126Ter)
c.384T>G (p.Tyr128Ter)
c.96T>G (p.Tyr32Ter)
n.453T>G
3g.15641977C>ACA351605370BTDc.319C>A (p.Pro107Thr)
n.1158C>A
c.85C>A (p.Pro29Thr)
c.379C>A (p.Pro127Thr)
c.385C>A (p.Pro129Thr)
c.97C>A (p.Pro33Thr)
n.454C>A
3g.15641977C>GCA351605372BTDc.319C>G (p.Pro107Ala)
n.1158C>G
c.85C>G (p.Pro29Ala)
c.379C>G (p.Pro127Ala)
c.385C>G (p.Pro129Ala)
c.97C>G (p.Pro33Ala)
n.454C>G
3g.15641977C>TCA351605374BTDc.319C>T (p.Pro107Ser)
n.1158C>T
c.85C>T (p.Pro29Ser)
c.379C>T (p.Pro127Ser)
c.385C>T (p.Pro129Ser)
c.97C>T (p.Pro33Ser)
n.454C>T
 gnomAD v4 COSMIC
3g.15641978C>ACA351605377BTDc.320C>A (p.Pro107Gln)
n.1159C>A
c.86C>A (p.Pro29Gln)
c.380C>A (p.Pro127Gln)
c.386C>A (p.Pro129Gln)
c.98C>A (p.Pro33Gln)
n.455C>A
3g.15641978C=CA1347644852BTDc.320C= (p.Pro107=)
n.1159C=
c.86C= (p.Pro29=)
c.380C= (p.Pro127=)
c.386C= (p.Pro129=)
c.98C= (p.Pro33=)
n.455C=
3g.15641978C>GCA351605380BTDc.320C>G (p.Pro107Arg)
n.1159C>G
c.86C>G (p.Pro29Arg)
c.380C>G (p.Pro127Arg)
c.386C>G (p.Pro129Arg)
c.98C>G (p.Pro33Arg)
n.455C>G
3g.15641978C>TCA2277301BTDc.320C>T (p.Pro107Leu)
n.1159C>T
c.86C>T (p.Pro29Leu)
c.380C>T (p.Pro127Leu)
c.386C>T (p.Pro129Leu)
c.98C>T (p.Pro33Leu)
n.455C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15641979A>CCA432649153BTDc.321A>C (p.Pro107=)
n.1160A>C
c.87A>C (p.Pro29=)
c.381A>C (p.Pro127=)
c.387A>C (p.Pro129=)
c.99A>C (p.Pro33=)
n.456A>C
3g.15641979A>GCA432649154BTDc.321A>G (p.Pro107=)
n.1160A>G
c.87A>G (p.Pro29=)
c.381A>G (p.Pro127=)
c.387A>G (p.Pro129=)
c.99A>G (p.Pro33=)
n.456A>G
 gnomAD v4
3g.15641979A>TCA432649155BTDc.321A>T (p.Pro107=)
n.1160A>T
c.87A>T (p.Pro29=)
c.381A>T (p.Pro127=)
c.387A>T (p.Pro129=)
c.99A>T (p.Pro33=)
n.456A>T
3g.15641980T>ACA351605389BTDc.322T>A (p.Phe108Ile)
n.1161T>A
c.88T>A (p.Phe30Ile)
c.382T>A (p.Phe128Ile)
c.388T>A (p.Phe130Ile)
c.100T>A (p.Phe34Ile)
n.457T>A
3g.15641980T>CCA351605387BTDc.322T>C (p.Phe108Leu)
n.1161T>C
c.88T>C (p.Phe30Leu)
c.382T>C (p.Phe128Leu)
c.388T>C (p.Phe130Leu)
c.100T>C (p.Phe34Leu)
n.457T>C
 dbSNP gnomAD v4
3g.15641980T>GCA278197BTDc.322T>G (p.Phe108Val)
n.1161T>G
c.88T>G (p.Phe30Val)
c.382T>G (p.Phe128Val)
c.388T>G (p.Phe130Val)
c.100T>G (p.Phe34Val)
n.457T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15641980T=CA1347644856BTDc.322T= (p.Phe108=)
n.1161T=
c.88T= (p.Phe30=)
c.382T= (p.Phe128=)
c.388T= (p.Phe130=)
c.100T= (p.Phe34=)
n.457T=
3g.15641984dupCA2586971762BTDc.326dup (p.Leu109PhefsTer23)
n.1165dup
c.92dup (p.Leu31PhefsTer23)
c.386dup (p.Leu129PhefsTer23)
c.392dup (p.Leu131PhefsTer23)
c.104dup (p.Leu35PhefsTer23)
n.461dup
3g.15641984delCA2664637616BTDc.326del (p.Leu109TrpfsTer30)
c.326del (p.Leu109TrpfsTer?)
c.326del (p.Leu109TrpfsTer26)
n.1165del
c.92del (p.Leu31TrpfsTer?)
c.386del (p.Leu129TrpfsTer30)
c.392del (p.Leu131TrpfsTer30)
c.104del (p.Leu35TrpfsTer30)
n.461del
c.386del (p.Leu129TrpfsTer26)
 gnomAD v4
3g.15641983_15641984delCA2664637618BTDc.325_326del (p.Leu109GlyfsTer22)
n.1164_1165del
c.91_92del (p.Leu31GlyfsTer22)
c.385_386del (p.Leu129GlyfsTer22)
c.391_392del (p.Leu131GlyfsTer22)
c.103_104del (p.Leu35GlyfsTer22)
n.460_461del
 gnomAD v4
3g.15641981T>ACA351605392BTDc.323T>A (p.Phe108Tyr)
n.1162T>A
c.89T>A (p.Phe30Tyr)
c.383T>A (p.Phe128Tyr)
c.389T>A (p.Phe130Tyr)
c.101T>A (p.Phe34Tyr)
n.458T>A
3g.15641981T>CCA351605394BTDc.323T>C (p.Phe108Ser)
n.1162T>C
c.89T>C (p.Phe30Ser)
c.383T>C (p.Phe128Ser)
c.389T>C (p.Phe130Ser)
c.101T>C (p.Phe34Ser)
n.458T>C
3g.15641981T>GCA351605396BTDc.323T>G (p.Phe108Cys)
n.1162T>G
c.89T>G (p.Phe30Cys)
c.383T>G (p.Phe128Cys)
c.389T>G (p.Phe130Cys)
c.101T>G (p.Phe34Cys)
n.458T>G
3g.15641982T>ACA351605400BTDc.324T>A (p.Phe108Leu)
n.1163T>A
c.90T>A (p.Phe30Leu)
c.384T>A (p.Phe128Leu)
c.390T>A (p.Phe130Leu)
c.102T>A (p.Phe34Leu)
n.459T>A
3g.15641982T>CCA432649156BTDc.324T>C (p.Phe108=)
n.1163T>C
c.90T>C (p.Phe30=)
c.384T>C (p.Phe128=)
c.390T>C (p.Phe130=)
c.102T>C (p.Phe34=)
n.459T>C
3g.15641982T>GCA351605403BTDc.324T>G (p.Phe108Leu)
n.1163T>G
c.90T>G (p.Phe30Leu)
c.384T>G (p.Phe128Leu)
c.390T>G (p.Phe130Leu)
c.102T>G (p.Phe34Leu)
n.459T>G
3g.15641983T>ACA351605406BTDc.325T>A (p.Leu109Met)
n.1164T>A
c.91T>A (p.Leu31Met)
c.385T>A (p.Leu129Met)
c.391T>A (p.Leu131Met)
c.103T>A (p.Leu35Met)
n.460T>A
3g.15641983T>CCA432649157BTDc.325T>C (p.Leu109=)
n.1164T>C
c.91T>C (p.Leu31=)
c.385T>C (p.Leu129=)
c.391T>C (p.Leu131=)
c.103T>C (p.Leu35=)
n.460T>C
 gnomAD v4
3g.15641983T>GCA351605409BTDc.325T>G (p.Leu109Val)
n.1164T>G
c.91T>G (p.Leu31Val)
c.385T>G (p.Leu129Val)
c.391T>G (p.Leu131Val)
c.103T>G (p.Leu35Val)
n.460T>G
3g.15641984T>ACA351605414BTDc.326T>A (p.Leu109Ter)
n.1165T>A
c.92T>A (p.Leu31Ter)
c.386T>A (p.Leu129Ter)
c.392T>A (p.Leu131Ter)
c.104T>A (p.Leu35Ter)
n.461T>A
3g.15641984T>CCA351605418BTDc.326T>C (p.Leu109Ser)
n.1165T>C
c.92T>C (p.Leu31Ser)
c.386T>C (p.Leu129Ser)
c.392T>C (p.Leu131Ser)
c.104T>C (p.Leu35Ser)
n.461T>C
3g.15641984T>GCA351605420BTDc.326T>G (p.Leu109Trp)
n.1165T>G
c.92T>G (p.Leu31Trp)
c.386T>G (p.Leu129Trp)
c.392T>G (p.Leu131Trp)
c.104T>G (p.Leu35Trp)
n.461T>G
3g.15641985G>ACA432649158BTDc.327G>A (p.Leu109=)
n.1166G>A
c.93G>A (p.Leu31=)
c.387G>A (p.Leu129=)
c.393G>A (p.Leu131=)
c.105G>A (p.Leu35=)
n.462G>A
3g.15641985G>CCA351605423BTDc.327G>C (p.Leu109Phe)
n.1166G>C
c.93G>C (p.Leu31Phe)
c.387G>C (p.Leu129Phe)
c.393G>C (p.Leu131Phe)
c.105G>C (p.Leu35Phe)
n.462G>C
3g.15641985G>TCA351605426BTDc.327G>T (p.Leu109Phe)
n.1166G>T
c.93G>T (p.Leu31Phe)
c.387G>T (p.Leu129Phe)
c.393G>T (p.Leu131Phe)
c.105G>T (p.Leu35Phe)
n.462G>T
3g.15641986G>ACA351605431BTDc.328G>A (p.Asp110Asn)
n.1167G>A
c.94G>A (p.Asp32Asn)
c.388G>A (p.Asp130Asn)
c.394G>A (p.Asp132Asn)
c.106G>A (p.Asp36Asn)
n.463G>A
 gnomAD v4
3g.15641986G>CCA351605436BTDc.328G>C (p.Asp110His)
n.1167G>C
c.94G>C (p.Asp32His)
c.388G>C (p.Asp130His)
c.394G>C (p.Asp132His)
c.106G>C (p.Asp36His)
n.463G>C
3g.15641986G>TCA351605429BTDc.328G>T (p.Asp110Tyr)
n.1167G>T
c.94G>T (p.Asp32Tyr)
c.388G>T (p.Asp130Tyr)
c.394G>T (p.Asp132Tyr)
c.106G>T (p.Asp36Tyr)
n.463G>T
3g.15641987A>CCA351605446BTDc.329A>C (p.Asp110Ala)
n.1168A>C
c.95A>C (p.Asp32Ala)
c.389A>C (p.Asp130Ala)
c.395A>C (p.Asp132Ala)
c.107A>C (p.Asp36Ala)
n.464A>C
3g.15641987A>GCA351605440BTDc.329A>G (p.Asp110Gly)
n.1168A>G
c.95A>G (p.Asp32Gly)
c.389A>G (p.Asp130Gly)
c.395A>G (p.Asp132Gly)
c.107A>G (p.Asp36Gly)
n.464A>G
 gnomAD v4
3g.15641987A>TCA351605443BTDc.329A>T (p.Asp110Val)
n.1168A>T
c.95A>T (p.Asp32Val)
c.389A>T (p.Asp130Val)
c.395A>T (p.Asp132Val)
c.107A>T (p.Asp36Val)
n.464A>T
3g.15641988C>ACA351605449BTDc.330C>A (p.Asp110Glu)
n.1169C>A
c.96C>A (p.Asp32Glu)
c.390C>A (p.Asp130Glu)
c.396C>A (p.Asp132Glu)
c.108C>A (p.Asp36Glu)
n.465C>A
3g.15641988C>GCA351605452BTDc.330C>G (p.Asp110Glu)
n.1169C>G
c.96C>G (p.Asp32Glu)
c.390C>G (p.Asp130Glu)
c.396C>G (p.Asp132Glu)
c.108C>G (p.Asp36Glu)
n.465C>G
3g.15641988C>TCA432649161BTDc.330C>T (p.Asp110=)
n.1169C>T
c.96C>T (p.Asp32=)
c.390C>T (p.Asp130=)
c.396C>T (p.Asp132=)
c.108C>T (p.Asp36=)
n.465C>T
 gnomAD v4
3g.15641989_15641995delCA2755328889BTDc.331_337del (p.Phe111ArgfsTer26)
c.331_337del (p.Phe111ArgfsTer?)
c.331_337del (p.Phe111ArgfsTer22)
n.1170_1176del
c.97_103del (p.Phe33ArgfsTer?)
c.391_397del (p.Phe131ArgfsTer26)
c.397_403del (p.Phe133ArgfsTer26)
c.331_337del (p.Phe111ArgfsTer29)
c.109_115del (p.Phe37ArgfsTer26)
n.466_472del
c.391_397del (p.Phe131ArgfsTer22)
3g.15641989T>ACA351605458BTDc.331T>A (p.Phe111Ile)
n.1170T>A
c.97T>A (p.Phe33Ile)
c.391T>A (p.Phe131Ile)
c.397T>A (p.Phe133Ile)
c.109T>A (p.Phe37Ile)
n.466T>A
 gnomAD v4
3g.15641989T>CCA351605459BTDc.331T>C (p.Phe111Leu)
n.1170T>C
c.97T>C (p.Phe33Leu)
c.391T>C (p.Phe131Leu)
c.397T>C (p.Phe133Leu)
c.109T>C (p.Phe37Leu)
n.466T>C
3g.15641989T>GCA351605462BTDc.331T>G (p.Phe111Val)
n.1170T>G
c.97T>G (p.Phe33Val)
c.391T>G (p.Phe131Val)
c.397T>G (p.Phe133Val)
c.109T>G (p.Phe37Val)
n.466T>G
3g.15641990T>ACA351605465BTDc.332T>A (p.Phe111Tyr)
n.1171T>A
c.98T>A (p.Phe33Tyr)
c.392T>A (p.Phe131Tyr)
c.398T>A (p.Phe133Tyr)
c.110T>A (p.Phe37Tyr)
n.467T>A
3g.15641990T>CCA351605469BTDc.332T>C (p.Phe111Ser)
n.1171T>C
c.98T>C (p.Phe33Ser)
c.392T>C (p.Phe131Ser)
c.398T>C (p.Phe133Ser)
c.110T>C (p.Phe37Ser)
n.467T>C
3g.15641990T>GCA351605473BTDc.332T>G (p.Phe111Cys)
n.1171T>G
c.98T>G (p.Phe33Cys)
c.392T>G (p.Phe131Cys)
c.398T>G (p.Phe133Cys)
c.110T>G (p.Phe37Cys)
n.467T>G
3g.15641990_15641991delinsTCCA1347644861BTDc.332_333delinsTC (p.Phe111=)
n.1171_1172delinsTC
c.98_99delinsTC (p.Phe33=)
c.392_393delinsTC (p.Phe131=)
c.398_399delinsTC (p.Phe133=)
c.110_111delinsTC (p.Phe37=)
n.467_468delinsTC
3g.15641991delCA278198BTDc.333del (p.Phe111LeufsTer28)
c.333del (p.Phe111LeufsTer?)
c.333del (p.Phe111LeufsTer24)
n.1172del
c.99del (p.Phe33LeufsTer?)
c.393del (p.Phe131LeufsTer28)
c.399del (p.Phe133LeufsTer28)
c.111del (p.Phe37LeufsTer28)
n.468del
c.393del (p.Phe131LeufsTer24)
 ClinVar dbSNP gnomAD v4
3g.15641991C>ACA351605487BTDc.333C>A (p.Phe111Leu)
n.1172C>A
c.99C>A (p.Phe33Leu)
c.393C>A (p.Phe131Leu)
c.399C>A (p.Phe133Leu)
c.111C>A (p.Phe37Leu)
n.468C>A
3g.15641991C>GCA351605490BTDc.333C>G (p.Phe111Leu)
n.1172C>G
c.99C>G (p.Phe33Leu)
c.393C>G (p.Phe131Leu)
c.399C>G (p.Phe133Leu)
c.111C>G (p.Phe37Leu)
n.468C>G
3g.15641991C>TCA432649162BTDc.333C>T (p.Phe111=)
n.1172C>T
c.99C>T (p.Phe33=)
c.393C>T (p.Phe131=)
c.399C>T (p.Phe133=)
c.111C>T (p.Phe37=)
n.468C>T
3g.15641992A=CA1347644868BTDc.334A= (p.Met112=)
n.1173A=
c.100A= (p.Met34=)
c.394A= (p.Met132=)
c.400A= (p.Met134=)
c.112A= (p.Met38=)
n.469A=
3g.15641992A>CCA351605502BTDc.334A>C (p.Met112Leu)
n.1173A>C
c.100A>C (p.Met34Leu)
c.394A>C (p.Met132Leu)
c.400A>C (p.Met134Leu)
c.112A>C (p.Met38Leu)
n.469A>C
3g.15641992A>GCA2277302BTDc.334A>G (p.Met112Val)
n.1173A>G
c.100A>G (p.Met34Val)
c.394A>G (p.Met132Val)
c.400A>G (p.Met134Val)
c.112A>G (p.Met38Val)
n.469A>G
 dbSNP ExAC gnomAD v2
3g.15641992A>TCA351605500BTDc.334A>T (p.Met112Leu)
n.1173A>T
c.100A>T (p.Met34Leu)
c.394A>T (p.Met132Leu)
c.400A>T (p.Met134Leu)
c.112A>T (p.Met38Leu)
n.469A>T
3g.15641993T>ACA351605508BTDc.335T>A (p.Met112Lys)
n.1174T>A
c.101T>A (p.Met34Lys)
c.395T>A (p.Met132Lys)
c.401T>A (p.Met134Lys)
c.113T>A (p.Met38Lys)
n.470T>A
3g.15641993T>CCA351605509BTDc.335T>C (p.Met112Thr)
n.1174T>C
c.101T>C (p.Met34Thr)
c.395T>C (p.Met132Thr)
c.401T>C (p.Met134Thr)
c.113T>C (p.Met38Thr)
n.470T>C
3g.15641993T>GCA351605510BTDc.335T>G (p.Met112Arg)
n.1174T>G
c.101T>G (p.Met34Arg)
c.395T>G (p.Met132Arg)
c.401T>G (p.Met134Arg)
c.113T>G (p.Met38Arg)
n.470T>G
3g.15641994G>ACA351605517BTDc.336G>A (p.Met112Ile)
n.1175G>A
c.102G>A (p.Met34Ile)
c.396G>A (p.Met132Ile)
c.402G>A (p.Met134Ile)
c.114G>A (p.Met38Ile)
n.471G>A
 dbSNP gnomAD v4
3g.15641994G>CCA351605520BTDc.336G>C (p.Met112Ile)
n.1175G>C
c.102G>C (p.Met34Ile)
c.396G>C (p.Met132Ile)
c.402G>C (p.Met134Ile)
c.114G>C (p.Met38Ile)
n.471G>C
3g.15641994G=CA1347644871BTDc.336G= (p.Met112=)
n.1175G=
c.102G= (p.Met34=)
c.396G= (p.Met132=)
c.402G= (p.Met134=)
c.114G= (p.Met38=)
n.471G=
3g.15641994G>TCA351605522BTDc.336G>T (p.Met112Ile)
n.1175G>T
c.102G>T (p.Met34Ile)
c.396G>T (p.Met132Ile)
c.402G>T (p.Met134Ile)
c.114G>T (p.Met38Ile)
n.471G>T
3g.15641995C>ACA351605526BTDc.337C>A (p.Pro113Thr)
n.1176C>A
c.103C>A (p.Pro35Thr)
c.397C>A (p.Pro133Thr)
c.403C>A (p.Pro135Thr)
c.115C>A (p.Pro39Thr)
n.472C>A
3g.15641995C>GCA351605528BTDc.337C>G (p.Pro113Ala)
n.1176C>G
c.103C>G (p.Pro35Ala)
c.397C>G (p.Pro133Ala)
c.403C>G (p.Pro135Ala)
c.115C>G (p.Pro39Ala)
n.472C>G
3g.15641995C>TCA351605530BTDc.337C>T (p.Pro113Ser)
n.1176C>T
c.103C>T (p.Pro35Ser)
c.397C>T (p.Pro133Ser)
c.403C>T (p.Pro135Ser)
c.115C>T (p.Pro39Ser)
n.472C>T
3g.15641996C>ACA351605534BTDc.338C>A (p.Pro113Gln)
n.1177C>A
c.104C>A (p.Pro35Gln)
c.398C>A (p.Pro133Gln)
c.404C>A (p.Pro135Gln)
c.116C>A (p.Pro39Gln)
n.473C>A
3g.15641996C=CA1347644874BTDc.338C= (p.Pro113=)
n.1177C=
c.104C= (p.Pro35=)
c.398C= (p.Pro133=)
c.404C= (p.Pro135=)
c.116C= (p.Pro39=)
n.473C=
3g.15641996C>GCA351605537BTDc.338C>G (p.Pro113Arg)
n.1177C>G
c.104C>G (p.Pro35Arg)
c.398C>G (p.Pro133Arg)
c.404C>G (p.Pro135Arg)
c.116C>G (p.Pro39Arg)
n.473C>G
3g.15641996C>TCA70619255BTDc.338C>T (p.Pro113Leu)
n.1177C>T
c.104C>T (p.Pro35Leu)
c.398C>T (p.Pro133Leu)
c.404C>T (p.Pro135Leu)
c.116C>T (p.Pro39Leu)
n.473C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.15641997G>ACA243087BTDc.339G>A (p.Pro113=)
n.1178G>A
c.105G>A (p.Pro35=)
c.399G>A (p.Pro133=)
c.405G>A (p.Pro135=)
c.117G>A (p.Pro39=)
n.474G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15641997G>CCA2277303BTDc.339G>C (p.Pro113=)
n.1178G>C
c.105G>C (p.Pro35=)
c.399G>C (p.Pro133=)
c.405G>C (p.Pro135=)
c.117G>C (p.Pro39=)
n.474G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15641997G=CA1347644879BTDc.339G= (p.Pro113=)
n.1178G=
c.105G= (p.Pro35=)
c.399G= (p.Pro133=)
c.405G= (p.Pro135=)
c.117G= (p.Pro39=)
n.474G=
3g.15641997G>TCA432649163BTDc.339G>T (p.Pro113=)
n.1178G>T
c.105G>T (p.Pro35=)
c.399G>T (p.Pro133=)
c.405G>T (p.Pro135=)
c.117G>T (p.Pro39=)
n.474G>T
 ClinVar dbSNP
3g.15641998T>ACA351605551BTDc.340T>A (p.Ser114Thr)
n.1179T>A
c.106T>A (p.Ser36Thr)
c.400T>A (p.Ser134Thr)
c.406T>A (p.Ser136Thr)
c.118T>A (p.Ser40Thr)
n.475T>A
3g.15641998T>CCA2277304BTDc.340T>C (p.Ser114Pro)
n.1179T>C
c.106T>C (p.Ser36Pro)
c.400T>C (p.Ser134Pro)
c.406T>C (p.Ser136Pro)
c.118T>C (p.Ser40Pro)
n.475T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.15641998T>GCA351605556BTDc.340T>G (p.Ser114Ala)
n.1179T>G
c.106T>G (p.Ser36Ala)
c.400T>G (p.Ser134Ala)
c.406T>G (p.Ser136Ala)
c.118T>G (p.Ser40Ala)
n.475T>G
3g.15641998T=CA1347644883BTDc.340T= (p.Ser114=)
n.1179T=
c.106T= (p.Ser36=)
c.400T= (p.Ser134=)
c.406T= (p.Ser136=)
c.118T= (p.Ser40=)
n.475T=
3g.15641999C>ACA351605558BTDc.341C>A (p.Ser114Tyr)
n.1180C>A
c.107C>A (p.Ser36Tyr)
c.401C>A (p.Ser134Tyr)
c.407C>A (p.Ser136Tyr)
c.119C>A (p.Ser40Tyr)
n.476C>A
3g.15641999C>GCA351605559BTDc.341C>G (p.Ser114Cys)
n.1180C>G
c.107C>G (p.Ser36Cys)
c.401C>G (p.Ser134Cys)
c.407C>G (p.Ser136Cys)
c.119C>G (p.Ser40Cys)
n.476C>G
3g.15641999C>TCA351605562BTDc.341C>T (p.Ser114Phe)
n.1180C>T
c.107C>T (p.Ser36Phe)
c.401C>T (p.Ser134Phe)
c.407C>T (p.Ser136Phe)
c.119C>T (p.Ser40Phe)
n.476C>T
3g.15642000T>ACA432649164BTDc.342T>A (p.Ser114=)
n.1181T>A
c.108T>A (p.Ser36=)
c.402T>A (p.Ser134=)
c.408T>A (p.Ser136=)
c.120T>A (p.Ser40=)
n.477T>A
3g.15642000T>CCA432649165BTDc.342T>C (p.Ser114=)
n.1181T>C
c.108T>C (p.Ser36=)
c.402T>C (p.Ser134=)
c.408T>C (p.Ser136=)
c.120T>C (p.Ser40=)
n.477T>C
3g.15642000T>GCA432649166BTDc.342T>G (p.Ser114=)
n.1181T>G
c.108T>G (p.Ser36=)
c.402T>G (p.Ser134=)
c.408T>G (p.Ser136=)
c.120T>G (p.Ser40=)
n.477T>G
3g.15642000_15642001delinsTCCA1347644885BTDc.342_343delinsTC (p.Ser114=)
n.1181_1182delinsTC
c.108_109delinsTC (p.Ser36=)
c.402_403delinsTC (p.Ser134=)
c.408_409delinsTC (p.Ser136=)
c.120_121delinsTC (p.Ser40=)
n.477_478delinsTC
3g.15642001C>ACA351605565BTDc.343C>A (p.Pro115Thr)
n.1182C>A
c.109C>A (p.Pro37Thr)
c.403C>A (p.Pro135Thr)
c.409C>A (p.Pro137Thr)
c.121C>A (p.Pro41Thr)
n.478C>A
3g.15642001C=CA1347644891BTDc.343C= (p.Pro115=)
n.1182C=
c.109C= (p.Pro37=)
c.403C= (p.Pro135=)
c.409C= (p.Pro137=)
c.121C= (p.Pro41=)
n.478C=
3g.15642001C>GCA351605567BTDc.343C>G (p.Pro115Ala)
n.1182C>G
c.109C>G (p.Pro37Ala)
c.403C>G (p.Pro135Ala)
c.409C>G (p.Pro137Ala)
c.121C>G (p.Pro41Ala)
n.478C>G
3g.15642001C>TCA351605570BTDc.343C>T (p.Pro115Ser)
n.1182C>T
c.109C>T (p.Pro37Ser)
c.403C>T (p.Pro135Ser)
c.409C>T (p.Pro137Ser)
c.121C>T (p.Pro41Ser)
n.478C>T
 dbSNP gnomAD v3 gnomAD v4
3g.15642004delCA541347902BTDc.346del (p.Gln116ArgfsTer23)
c.346del (p.Gln116ArgfsTer?)
c.346del (p.Gln116ArgfsTer19)
n.1185del
c.112del (p.Gln38ArgfsTer?)
c.406del (p.Gln136ArgfsTer23)
c.412del (p.Gln138ArgfsTer23)
c.346del (p.Gln116ArgfsTer26)
c.124del (p.Gln42ArgfsTer23)
n.481del
c.406del (p.Gln136ArgfsTer19)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15642002C>ACA351605573BTDc.344C>A (p.Pro115His)
n.1183C>A
c.110C>A (p.Pro37His)
c.404C>A (p.Pro135His)
c.410C>A (p.Pro137His)
c.122C>A (p.Pro41His)
n.479C>A
3g.15642002C>GCA351605576BTDc.344C>G (p.Pro115Arg)
n.1183C>G
c.110C>G (p.Pro37Arg)
c.404C>G (p.Pro135Arg)
c.410C>G (p.Pro137Arg)
c.122C>G (p.Pro41Arg)
n.479C>G
 gnomAD v4
3g.15642002C>TCA351605578BTDc.344C>T (p.Pro115Leu)
n.1183C>T
c.110C>T (p.Pro37Leu)
c.404C>T (p.Pro135Leu)
c.410C>T (p.Pro137Leu)
c.122C>T (p.Pro41Leu)
n.479C>T
3g.15642003C>ACA432649167BTDc.345C>A (p.Pro115=)
n.1184C>A
c.111C>A (p.Pro37=)
c.405C>A (p.Pro135=)
c.411C>A (p.Pro137=)
c.123C>A (p.Pro41=)
n.480C>A
3g.15642003C=CA1347644894BTDc.345C= (p.Pro115=)
n.1184C=
c.111C= (p.Pro37=)
c.405C= (p.Pro135=)
c.411C= (p.Pro137=)
c.123C= (p.Pro41=)
n.480C=
3g.15642003C>GCA432649168BTDc.345C>G (p.Pro115=)
n.1184C>G
c.111C>G (p.Pro37=)
c.405C>G (p.Pro135=)
c.411C>G (p.Pro137=)
c.123C>G (p.Pro41=)
n.480C>G
 gnomAD v4
3g.15642003C>TCA2277305BTDc.345C>T (p.Pro115=)
n.1184C>T
c.111C>T (p.Pro37=)
c.405C>T (p.Pro135=)
c.411C>T (p.Pro137=)
c.123C>T (p.Pro41=)
n.480C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.15642004C>ACA351605584BTDc.346C>A (p.Gln116Lys)
n.1185C>A
c.112C>A (p.Gln38Lys)
c.406C>A (p.Gln136Lys)
c.412C>A (p.Gln138Lys)
c.124C>A (p.Gln42Lys)
n.481C>A
3g.15642004C=CA1347644896BTDc.346C= (p.Gln116=)
n.1185C=
c.112C= (p.Gln38=)
c.406C= (p.Gln136=)
c.412C= (p.Gln138=)
c.124C= (p.Gln42=)
n.481C=
3g.15642004C>GCA351605585BTDc.346C>G (p.Gln116Glu)
n.1185C>G
c.112C>G (p.Gln38Glu)
c.406C>G (p.Gln136Glu)
c.412C>G (p.Gln138Glu)
c.124C>G (p.Gln42Glu)
n.481C>G
3g.15642004C>TCA351605583BTDc.346C>T (p.Gln116Ter)
n.1185C>T
c.112C>T (p.Gln38Ter)
c.406C>T (p.Gln136Ter)
c.412C>T (p.Gln138Ter)
c.124C>T (p.Gln42Ter)
n.481C>T
 ClinVar
3g.15642005A=CA1347644898BTDc.347A= (p.Gln116=)
n.1186A=
c.113A= (p.Gln38=)
c.407A= (p.Gln136=)
c.413A= (p.Gln138=)
c.125A= (p.Gln42=)
n.482A=
3g.15642005A>CCA351605586BTDc.347A>C (p.Gln116Pro)
n.1186A>C
c.113A>C (p.Gln38Pro)
c.407A>C (p.Gln136Pro)
c.413A>C (p.Gln138Pro)
c.125A>C (p.Gln42Pro)
n.482A>C
3g.15642005A>GCA70619306BTDc.347A>G (p.Gln116Arg)
n.1186A>G
c.113A>G (p.Gln38Arg)
c.407A>G (p.Gln136Arg)
c.413A>G (p.Gln138Arg)
c.125A>G (p.Gln42Arg)
n.482A>G
 ClinVar dbSNP gnomAD v4
3g.15642005A>TCA351605591BTDc.347A>T (p.Gln116Leu)
n.1186A>T
c.113A>T (p.Gln38Leu)
c.407A>T (p.Gln136Leu)
c.413A>T (p.Gln138Leu)
c.125A>T (p.Gln42Leu)
n.482A>T
3g.15642005dupCA278394BTDc.347dup (p.Val117GlyfsTer15)
n.1186dup
c.113dup (p.Val39GlyfsTer15)
c.407dup (p.Val137GlyfsTer15)
c.413dup (p.Val139GlyfsTer15)
c.125dup (p.Val43GlyfsTer15)
n.482dup
 dbSNP
3g.15642006G>ACA432649169BTDc.348G>A (p.Gln116=)
n.1187G>A
c.114G>A (p.Gln38=)
c.408G>A (p.Gln136=)
c.414G>A (p.Gln138=)
c.126G>A (p.Gln42=)
n.483G>A
 gnomAD v4
3g.15642006G>CCA351605593BTDc.348G>C (p.Gln116His)
n.1187G>C
c.114G>C (p.Gln38His)
c.408G>C (p.Gln136His)
c.414G>C (p.Gln138His)
c.126G>C (p.Gln42His)
n.483G>C
3g.15642006G=CA1347644902BTDc.348G= (p.Gln116=)
n.1187G=
c.114G= (p.Gln38=)
c.408G= (p.Gln136=)
c.414G= (p.Gln138=)
c.126G= (p.Gln42=)
n.483G=
3g.15642006G>TCA2277306BTDc.348G>T (p.Gln116His)
n.1187G>T
c.114G>T (p.Gln38His)
c.408G>T (p.Gln136His)
c.414G>T (p.Gln138His)
c.126G>T (p.Gln42His)
n.483G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15642007G>ACA351605603BTDc.349G>A (p.Val117Met)
n.1188G>A
c.115G>A (p.Val39Met)
c.409G>A (p.Val137Met)
c.415G>A (p.Val139Met)
c.127G>A (p.Val43Met)
n.484G>A
 dbSNP gnomAD v3 gnomAD v4
3g.15642007G>CCA351605599BTDc.349G>C (p.Val117Leu)
n.1188G>C
c.115G>C (p.Val39Leu)
c.409G>C (p.Val137Leu)
c.415G>C (p.Val139Leu)
c.127G>C (p.Val43Leu)
n.484G>C
 dbSNP gnomAD v2 gnomAD v4
3g.15642007G=CA1347644905BTDc.349G= (p.Val117=)
n.1188G=
c.115G= (p.Val39=)
c.409G= (p.Val137=)
c.415G= (p.Val139=)
c.127G= (p.Val43=)
n.484G=
3g.15642007G>TCA351605601BTDc.349G>T (p.Val117Leu)
n.1188G>T
c.115G>T (p.Val39Leu)
c.409G>T (p.Val137Leu)
c.415G>T (p.Val139Leu)
c.127G>T (p.Val43Leu)
n.484G>T
3g.15642008T>ACA351605605BTDc.350T>A (p.Val117Glu)
n.1189T>A
c.116T>A (p.Val39Glu)
c.410T>A (p.Val137Glu)
c.416T>A (p.Val139Glu)
c.128T>A (p.Val43Glu)
n.485T>A
3g.15642008T>CCA351605607BTDc.350T>C (p.Val117Ala)
n.1189T>C
c.116T>C (p.Val39Ala)
c.410T>C (p.Val137Ala)
c.416T>C (p.Val139Ala)
c.128T>C (p.Val43Ala)
n.485T>C
3g.15642008T>GCA351605609BTDc.350T>G (p.Val117Gly)
n.1189T>G
c.116T>G (p.Val39Gly)
c.410T>G (p.Val137Gly)
c.416T>G (p.Val139Gly)
c.128T>G (p.Val43Gly)
n.485T>G
3g.15642009G>ACA432649170BTDc.351G>A (p.Val117=)
n.1190G>A
c.117G>A (p.Val39=)
c.411G>A (p.Val137=)
c.417G>A (p.Val139=)
c.129G>A (p.Val43=)
n.486G>A
 gnomAD v4
3g.15642009G>CCA432649171BTDc.351G>C (p.Val117=)
n.1190G>C
c.117G>C (p.Val39=)
c.411G>C (p.Val137=)
c.417G>C (p.Val139=)
c.129G>C (p.Val43=)
n.486G>C
3g.15642009G=CA1347644908BTDc.351G= (p.Val117=)
n.1190G=
c.117G= (p.Val39=)
c.411G= (p.Val137=)
c.417G= (p.Val139=)
c.129G= (p.Val43=)
n.486G=
3g.15642009G>TCA432649172BTDc.351G>T (p.Val117=)
n.1190G>T
c.117G>T (p.Val39=)
c.411G>T (p.Val137=)
c.417G>T (p.Val139=)
c.129G>T (p.Val43=)
n.486G>T
 dbSNP
3g.15642009_15642010delinsTTCA2580068515BTDc.351_352delinsTT (p.Val118Phe)
n.1190_1191delinsTT
c.117_118delinsTT (p.Val40Phe)
c.411_412delinsTT (p.Val138Phe)
c.417_418delinsTT (p.Val140Phe)
c.129_130delinsTT (p.Val44Phe)
n.486_487delinsTT
 ClinVar

Number of alleles fetched