Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.15641904del | CA1347644684 | BTD | c.250-4del (n.250-4del) n.1089-4del c.16-4del (n.16-4del) c.310-4del (n.310-4del) c.316-4del (n.316-4del) c.28-4del (n.28-4del) n.385-4del | dbSNP |
3 | g.15641904T>A | CA1347644686 | BTD | c.250-4T>A (n.250-4T>A) n.1089-4T>A c.16-4T>A (n.16-4T>A) c.310-4T>A (n.310-4T>A) c.316-4T>A (n.316-4T>A) c.28-4T>A (n.28-4T>A) n.385-4T>A | dbSNP gnomAD v4 |
3 | g.15641904T>C | CA2664637461 | BTD | c.250-4T>C (n.250-4T>C) n.1089-4T>C c.16-4T>C (n.16-4T>C) c.310-4T>C (n.310-4T>C) c.316-4T>C (n.316-4T>C) c.28-4T>C (n.28-4T>C) n.385-4T>C | gnomAD v4 |
3 | g.15641904T= | CA1347644687 | BTD | c.250-4T= (n.250-4T=) n.1089-4T= c.16-4T= (n.16-4T=) c.310-4T= (n.310-4T=) c.316-4T= (n.316-4T=) c.28-4T= (n.28-4T=) n.385-4T= | |
3 | g.15641905C>A | CA2664637463 | BTD | c.250-3C>A (n.250-3C>A) n.1089-3C>A c.16-3C>A (n.16-3C>A) c.310-3C>A (n.310-3C>A) c.316-3C>A (n.316-3C>A) c.28-3C>A (n.28-3C>A) n.385-3C>A | gnomAD v4 |
3 | g.15641906A>C | CA351605011 | BTD | c.250-2A>C (n.250-2A>C) n.1089-2A>C c.16-2A>C (n.16-2A>C) c.310-2A>C (n.310-2A>C) c.316-2A>C (n.316-2A>C) c.28-2A>C (n.28-2A>C) n.385-2A>C | |
3 | g.15641906A>G | CA351605010 | BTD | c.250-2A>G (n.250-2A>G) n.1089-2A>G c.16-2A>G (n.16-2A>G) c.310-2A>G (n.310-2A>G) c.316-2A>G (n.316-2A>G) c.28-2A>G (n.28-2A>G) n.385-2A>G | |
3 | g.15641906A>T | CA351605009 | BTD | c.250-2A>T (n.250-2A>T) n.1089-2A>T c.16-2A>T (n.16-2A>T) c.310-2A>T (n.310-2A>T) c.316-2A>T (n.316-2A>T) c.28-2A>T (n.28-2A>T) n.385-2A>T | gnomAD v4 |
3 | g.15641907G>A | CA351605013 | BTD | c.250-1G>A (n.250-1G>A) n.1089-1G>A c.16-1G>A (n.16-1G>A) c.310-1G>A (n.310-1G>A) c.316-1G>A (n.316-1G>A) c.28-1G>A (n.28-1G>A) n.385-1G>A | |
3 | g.15641907G>C | CA351605012 | BTD | c.250-1G>C (n.250-1G>C) n.1089-1G>C c.16-1G>C (n.16-1G>C) c.310-1G>C (n.310-1G>C) c.316-1G>C (n.316-1G>C) c.28-1G>C (n.28-1G>C) n.385-1G>C | |
3 | g.15641907G= | CA1347644691 | BTD | c.250-1G= (n.250-1G=) n.1089-1G= c.16-1G= (n.16-1G=) c.310-1G= (n.310-1G=) c.316-1G= (n.316-1G=) c.28-1G= (n.28-1G=) n.385-1G= | |
3 | g.15641907G>T | CA351605014 | BTD | c.250-1G>T (n.250-1G>T) n.1089-1G>T c.16-1G>T (n.16-1G>T) c.310-1G>T (n.310-1G>T) c.316-1G>T (n.316-1G>T) c.28-1G>T (n.28-1G>T) n.385-1G>T | ClinVar dbSNP gnomAD v4 |
3 | g.15641908G>A | CA351605015 | BTD | c.250G>A (p.Asp84Asn) n.1089G>A c.16G>A (p.Asp6Asn) c.310G>A (p.Asp104Asn) c.316G>A (p.Asp106Asn) c.28G>A (p.Asp10Asn) n.385G>A | gnomAD v4 |
3 | g.15641908G>C | CA351605016 | BTD | c.250G>C (p.Asp84His) n.1089G>C c.16G>C (p.Asp6His) c.310G>C (p.Asp104His) c.316G>C (p.Asp106His) c.28G>C (p.Asp10His) n.385G>C | |
3 | g.15641908G= | CA1347644697 | BTD | c.250G= (p.Asp84=) n.1089G= c.16G= (p.Asp6=) c.310G= (p.Asp104=) c.316G= (p.Asp106=) c.28G= (p.Asp10=) n.385G= | |
3 | g.15641908G>T | CA278183 | BTD | c.250G>T (p.Asp84Tyr) n.1089G>T c.16G>T (p.Asp6Tyr) c.310G>T (p.Asp104Tyr) c.316G>T (p.Asp106Tyr) c.28G>T (p.Asp10Tyr) n.385G>T | dbSNP |
3 | g.15641909A>C | CA351605017 | BTD | c.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 | |
3 | g.15641909A>G | CA351605019 | BTD | c.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 |
3 | g.15641909A>T | CA351605018 | BTD | c.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 | |
3 | g.15641910T>A | CA351605020 | BTD | c.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 | |
3 | g.15641910T>C | CA2277294 | BTD | c.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 |
3 | g.15641910T>G | CA351605021 | BTD | c.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 | |
3 | g.15641910T= | CA1347644700 | BTD | c.252T= (p.Asp84=) n.1091T= c.18T= (p.Asp6=) c.312T= (p.Asp104=) c.318T= (p.Asp106=) c.30T= (p.Asp10=) n.387T= | |
3 | g.15641911_15641912dup | CA2831039760 | BTD | c.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 | |
3 | g.15641911G>A | CA351605022 | BTD | c.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 |
3 | g.15641911G>C | CA351605023 | BTD | c.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 | |
3 | g.15641911G= | CA1347644703 | BTD | c.253G= (p.Val85=) n.1092G= c.19G= (p.Val7=) c.313G= (p.Val105=) c.319G= (p.Val107=) c.31G= (p.Val11=) n.388G= | |
3 | g.15641911G>T | CA351605024 | BTD | c.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 | |
3 | g.15641912T>A | CA351605025 | BTD | c.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 |
3 | g.15641912T>C | CA351605026 | BTD | c.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 |
3 | g.15641912T>G | CA351605027 | BTD | c.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 | |
3 | g.15641913A= | CA1347644707 | BTD | c.255A= (p.Val85=) n.1094A= c.21A= (p.Val7=) c.315A= (p.Val105=) c.321A= (p.Val107=) c.33A= (p.Val11=) n.390A= | |
3 | g.15641913A>C | CA70619145 | BTD | c.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 |
3 | g.15641913A>G | CA432649108 | BTD | c.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 |
3 | g.15641913A>T | CA432649109 | BTD | c.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 | |
3 | g.15641914C>A | CA351605031 | BTD | c.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 | |
3 | g.15641914C= | CA1347644713 | BTD | c.256C= (p.Gln86=) n.1095C= c.22C= (p.Gln8=) c.316C= (p.Gln106=) c.322C= (p.Gln108=) c.34C= (p.Gln12=) n.391C= | |
3 | g.15641914C>G | CA351605032 | BTD | c.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 | |
3 | g.15641914C>T | CA351605034 | BTD | c.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 |
3 | g.15641914_15641915delinsCA | CA1347644712 | BTD | c.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 | |
3 | g.15641915del | CA1045362191 | BTD | c.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 |
3 | g.15641915A>C | CA351605040 | BTD | c.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 | |
3 | g.15641915A>G | CA351605038 | BTD | c.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 | |
3 | g.15641915A>T | CA351605037 | BTD | c.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 | |
3 | g.15641916G>A | CA432649110 | BTD | c.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 | |
3 | g.15641916G>C | CA351605043 | BTD | c.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 | |
3 | g.15641916G>T | CA351605044 | BTD | c.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 | |
3 | g.15641917A>C | CA351605047 | BTD | c.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 |
3 | g.15641917A>G | CA351605049 | BTD | c.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 | |
3 | g.15641917A>T | CA351605050 | BTD | c.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 | |
3 | g.15641918T>A | CA351605052 | BTD | c.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 | |
3 | g.15641918T>C | CA351605053 | BTD | c.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 | |
3 | g.15641918T>G | CA351605055 | BTD | c.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 | |
3 | g.15641918T= | CA1347644718 | BTD | c.260T= (p.Ile87=) n.1099T= c.26T= (p.Ile9=) c.320T= (p.Ile107=) c.326T= (p.Ile109=) c.38T= (p.Ile13=) n.395T= | |
3 | g.15641919T>A | CA432649111 | BTD | c.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 | |
3 | g.15641919T>C | CA432649112 | BTD | c.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 |
3 | g.15641919T>G | CA70619147 | BTD | c.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 |
3 | g.15641919T= | CA1347644725 | BTD | c.261T= (p.Ile87=) n.1100T= c.27T= (p.Ile9=) c.321T= (p.Ile107=) c.327T= (p.Ile109=) c.39T= (p.Ile13=) n.396T= | |
3 | g.15641921_15641922dup | CA891843042 | BTD | c.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 | |
3 | g.15641920A= | CA1347644735 | BTD | c.262A= (p.Ile88=) n.1101A= c.28A= (p.Ile10=) c.322A= (p.Ile108=) c.328A= (p.Ile110=) c.40A= (p.Ile14=) n.397A= | |
3 | g.15641920A>C | CA351605058 | BTD | c.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 | |
3 | g.15641920A>G | CA70619149 | BTD | c.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 |
3 | g.15641920A>T | CA351605062 | BTD | c.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 |
3 | g.15641921T>A | CA351605068 | BTD | c.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 | |
3 | g.15641921T>C | CA351605066 | BTD | c.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 |
3 | g.15641921T>G | CA351605065 | BTD | c.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 | |
3 | g.15641921T= | CA1347644742 | BTD | c.263T= (p.Ile88=) n.1102T= c.29T= (p.Ile10=) c.323T= (p.Ile108=) c.329T= (p.Ile110=) c.41T= (p.Ile14=) n.398T= | |
3 | g.15641922A>C | CA432649113 | BTD | c.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 |
3 | g.15641922A>G | CA351605070 | BTD | c.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 | |
3 | g.15641922A>T | CA432649114 | BTD | c.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 | |
3 | g.15641923G>A | CA351605072 | BTD | c.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 |
3 | g.15641923G>C | CA2277295 | BTD | c.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 |
3 | g.15641923G= | CA1347644746 | BTD | c.265G= (p.Val89=) n.1104G= c.31G= (p.Val11=) c.325G= (p.Val109=) c.331G= (p.Val111=) c.43G= (p.Val15=) n.400G= | |
3 | g.15641923G>T | CA351605074 | BTD | c.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 | |
3 | g.15641924T>A | CA351605076 | BTD | c.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 | |
3 | g.15641924T>C | CA351605078 | BTD | c.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 | |
3 | g.15641924T>G | CA278185 | BTD | c.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 |
3 | g.15641924T= | CA1347644759 | BTD | c.266T= (p.Val89=) n.1105T= c.32T= (p.Val11=) c.326T= (p.Val109=) c.332T= (p.Val111=) c.44T= (p.Val15=) n.401T= | |
3 | g.15641924dup | CA658761134 | BTD | c.266dup (p.Phe90ValfsTer?) n.1105dup c.32dup (p.Phe12ValfsTer?) c.326dup (p.Phe110ValfsTer?) c.332dup (p.Phe112ValfsTer?) c.44dup (p.Phe16ValfsTer?) n.401dup | |
3 | g.15641925G>A | CA432649115 | BTD | c.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 |
3 | g.15641925G>C | CA432649116 | BTD | c.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 | |
3 | g.15641925G= | CA1347644764 | BTD | c.267G= (p.Val89=) n.1106G= c.33G= (p.Val11=) c.327G= (p.Val109=) c.333G= (p.Val111=) c.45G= (p.Val15=) n.402G= | |
3 | g.15641925G>T | CA432649117 | BTD | c.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 |
3 | g.15641926T>A | CA351605084 | BTD | c.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 | |
3 | g.15641926T>C | CA351605080 | BTD | c.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 |
3 | g.15641926T>G | CA351605082 | BTD | c.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 | |
3 | g.15641928dup | CA1347644768 | BTD | c.270dup (p.Pro91SerfsTer?) n.1109dup c.36dup (p.Pro13SerfsTer?) c.330dup (p.Pro111SerfsTer?) c.336dup (p.Pro113SerfsTer?) c.48dup (p.Pro17SerfsTer?) n.405dup | dbSNP |
3 | g.15641928del | CA2580068510 | BTD | c.270del (p.Pro91GlnfsTer?) n.1109del c.36del (p.Pro13GlnfsTer?) c.330del (p.Pro111GlnfsTer?) c.336del (p.Pro113GlnfsTer?) c.48del (p.Pro17GlnfsTer?) n.405del | ClinVar |
3 | g.15641927T>A | CA351605086 | BTD | c.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 | |
3 | g.15641927T>C | CA2277296 | BTD | c.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 |
3 | g.15641927T>G | CA351605090 | BTD | c.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 | |
3 | g.15641927T= | CA1347644771 | BTD | c.269T= (p.Phe90=) n.1108T= c.35T= (p.Phe12=) c.329T= (p.Phe110=) c.335T= (p.Phe112=) c.47T= (p.Phe16=) n.404T= | |
3 | g.15641928T>A | CA351605092 | BTD | c.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 | |
3 | g.15641928T>C | CA432649118 | BTD | c.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 | |
3 | g.15641928T>G | CA351605094 | BTD | c.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 | |
3 | g.15641929C>A | CA351605097 | BTD | c.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 | |
3 | g.15641929C= | CA1347644773 | BTD | c.271C= (p.Pro91=) n.1110C= c.37C= (p.Pro13=) c.331C= (p.Pro111=) c.337C= (p.Pro113=) c.49C= (p.Pro17=) n.406C= | |
3 | g.15641929C>G | CA351605101 | BTD | c.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 |
3 | g.15641929C>T | CA351605099 | BTD | c.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 | |
3 | g.15641930C>A | CA351605103 | BTD | c.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 | |
3 | g.15641930C>G | CA351605104 | BTD | c.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 | |
3 | g.15641930C>T | CA351605106 | BTD | c.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 | |
3 | g.15641931A>C | CA432649119 | BTD | c.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 | |
3 | g.15641931A>G | CA432649120 | BTD | c.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 | |
3 | g.15641931A>T | CA432649121 | BTD | c.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 | |
3 | g.15641932G>A | CA278189 | BTD | c.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 |
3 | g.15641932G>C | CA278187 | BTD | c.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 |
3 | g.15641932G= | CA1347644780 | BTD | c.274G= (p.Glu92=) n.1113G= c.40G= (p.Glu14=) c.334G= (p.Glu112=) c.340G= (p.Glu114=) c.52G= (p.Glu18=) n.409G= | |
3 | g.15641932G>T | CA351605110 | BTD | c.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 | |
3 | g.15641933A>C | CA351605113 | BTD | c.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 | |
3 | g.15641933A>G | CA351605114 | BTD | c.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 | |
3 | g.15641933A>T | CA351605115 | BTD | c.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 | |
3 | g.15641934A>C | CA351605117 | BTD | c.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 | |
3 | g.15641934A>G | CA432649122 | BTD | c.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 | |
3 | g.15641934A>T | CA351605118 | BTD | c.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 | |
3 | g.15641935G>A | CA351605121 | BTD | c.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 | |
3 | g.15641935G>C | CA351605123 | BTD | c.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 |
3 | g.15641935G>T | CA351605120 | BTD | c.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 | |
3 | g.15641936A= | CA1347644788 | BTD | c.278A= (p.Asp93=) n.1117A= c.44A= (p.Asp15=) c.338A= (p.Asp113=) c.344A= (p.Asp115=) c.56A= (p.Asp19=) n.413A= | |
3 | g.15641936A>C | CA351605124 | BTD | c.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 | |
3 | g.15641936A>G | CA351605127 | BTD | c.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 |
3 | g.15641936A>T | CA351605126 | BTD | c.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 | |
3 | g.15641937T>A | CA351605129 | BTD | c.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 | |
3 | g.15641937T>C | CA2277297 | BTD | c.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 |
3 | g.15641937T>G | CA351605133 | BTD | c.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 | |
3 | g.15641937T= | CA1347644792 | BTD | c.279T= (p.Asp93=) n.1118T= c.45T= (p.Asp15=) c.339T= (p.Asp113=) c.345T= (p.Asp115=) c.57T= (p.Asp19=) n.414T= | |
3 | g.15641938G>A | CA351605134 | BTD | c.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 |
3 | g.15641938G>C | CA351605135 | BTD | c.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 | |
3 | g.15641938G>T | CA351605137 | BTD | c.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 | |
3 | g.15641939G>A | CA351605139 | BTD | c.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 | |
3 | g.15641939G>C | CA351605141 | BTD | c.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 | |
3 | g.15641939G= | CA1347644794 | BTD | c.281G= (p.Gly94=) n.1120G= c.47G= (p.Gly16=) c.341G= (p.Gly114=) c.347G= (p.Gly116=) c.59G= (p.Gly20=) n.416G= | |
3 | g.15641939G>T | CA278191 | BTD | c.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 |
3 | g.15641939_15641940delinsGC | CA1347644795 | BTD | c.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 | |
3 | g.15641940del | CA1139655727 | BTD | c.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 |
3 | g.15641940C>A | CA432649123 | BTD | c.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 |
3 | g.15641940C>G | CA432649124 | BTD | c.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 | |
3 | g.15641940C>T | CA432649125 | BTD | c.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 | |
3 | g.15641941A= | CA1347644801 | BTD | c.283A= (p.Ile95=) n.1122A= c.49A= (p.Ile17=) c.343A= (p.Ile115=) c.349A= (p.Ile117=) c.61A= (p.Ile21=) n.418A= | |
3 | g.15641941A>C | CA351605144 | BTD | c.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 | |
3 | g.15641941A>G | CA351605146 | BTD | c.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 |
3 | g.15641941A>T | CA351605147 | BTD | c.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 | |
3 | g.15641942T>A | CA351605149 | BTD | c.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 | |
3 | g.15641942T>C | CA351605153 | BTD | c.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 | |
3 | g.15641942T>G | CA351605151 | BTD | c.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 | |
3 | g.15641943T>A | CA432649126 | BTD | c.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 | |
3 | g.15641943T>C | CA432649127 | BTD | c.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 | |
3 | g.15641943T>G | CA351605157 | BTD | c.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 | |
3 | g.15641944C>A | CA351605159 | BTD | c.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 | |
3 | g.15641944C= | CA1347644803 | BTD | c.286C= (p.His96=) n.1125C= c.52C= (p.His18=) c.346C= (p.His116=) c.352C= (p.His118=) c.64C= (p.His22=) n.421C= | |
3 | g.15641944C>G | CA351605161 | BTD | c.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 | |
3 | g.15641944C>T | CA2277298 | BTD | c.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 |
3 | g.15641945A>C | CA351605164 | BTD | c.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 | |
3 | g.15641945A>G | CA351605166 | BTD | c.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 |
3 | g.15641945A>T | CA351605168 | BTD | c.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 | |
3 | g.15641946T>A | CA351605170 | BTD | c.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 | |
3 | g.15641946T>C | CA432649128 | BTD | c.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 |
3 | g.15641946T>G | CA351605172 | BTD | c.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 | |
3 | g.15641946T= | CA1347644805 | BTD | c.288T= (p.His96=) n.1127T= c.54T= (p.His18=) c.348T= (p.His116=) c.354T= (p.His118=) c.66T= (p.His22=) n.423T= | |
3 | g.15641947G>A | CA351605176 | BTD | c.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 | |
3 | g.15641947G>C | CA351605178 | BTD | c.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 | |
3 | g.15641947G>T | CA351605174 | BTD | c.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 | |
3 | g.15641948G>A | CA351605181 | BTD | c.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 | |
3 | g.15641948G>C | CA351605183 | BTD | c.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 | |
3 | g.15641948G>T | CA351605184 | BTD | c.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 | |
3 | g.15641949A>C | CA432649129 | BTD | c.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 | |
3 | g.15641949A>G | CA432649131 | BTD | c.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 |
3 | g.15641949A>T | CA432649130 | BTD | c.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 | |
3 | g.15641950T>A | CA351605185 | BTD | c.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 | |
3 | g.15641950T>C | CA351605186 | BTD | c.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 | |
3 | g.15641950T>G | CA351605187 | BTD | c.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 | |
3 | g.15641951T>A | CA351605189 | BTD | c.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 | |
3 | g.15641951T>C | CA351605191 | BTD | c.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 | |
3 | g.15641951T>G | CA351605192 | BTD | c.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 | |
3 | g.15641952C>A | CA351605194 | BTD | c.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 | |
3 | g.15641952C>G | CA351605196 | BTD | c.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 | |
3 | g.15641952C>T | CA432649132 | BTD | c.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 | |
3 | g.15641953A>C | CA351605200 | BTD | c.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 | |
3 | g.15641953A>G | CA351605202 | BTD | c.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 | |
3 | g.15641953A>T | CA351605198 | BTD | c.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 | |
3 | g.15641954A= | CA1347644808 | BTD | c.296A= (p.Asn99=) n.1135A= c.62A= (p.Asn21=) c.356A= (p.Asn119=) c.362A= (p.Asn121=) c.74A= (p.Asn25=) n.431A= | |
3 | g.15641954A>C | CA351605205 | BTD | c.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 | |
3 | g.15641954A>G | CA278193 | BTD | c.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 |
3 | g.15641954A>T | CA351605210 | BTD | c.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 | |
3 | g.15641955_15641964del | CA913203558 | BTD | c.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 | |
3 | g.15641955C>A | CA351605213 | BTD | c.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 | |
3 | g.15641955C= | CA1347644814 | BTD | c.297C= (p.Asn99=) n.1136C= c.63C= (p.Asn21=) c.357C= (p.Asn119=) c.363C= (p.Asn121=) c.75C= (p.Asn25=) n.432C= | |
3 | g.15641955C>G | CA351605216 | BTD | c.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 | |
3 | g.15641955C>T | CA70619197 | BTD | c.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 |
3 | g.15641956T>A | CA351605224 | BTD | c.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 | |
3 | g.15641956T>C | CA351605219 | BTD | c.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 | |
3 | g.15641956T>G | CA351605222 | BTD | c.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 | |
3 | g.15641957T>A | CA351605245 | BTD | c.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 | |
3 | g.15641957T>C | CA351605247 | BTD | c.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 |
3 | g.15641957T>G | CA351605249 | BTD | c.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 | |
3 | g.15641958T>A | CA351605252 | BTD | c.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 | |
3 | g.15641958T>C | CA432649133 | BTD | c.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 | |
3 | g.15641958T>G | CA351605255 | BTD | c.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 | |
3 | g.15641959A>C | CA351605265 | BTD | c.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 | |
3 | g.15641959A>G | CA351605261 | BTD | c.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 | |
3 | g.15641959A>T | CA351605259 | BTD | c.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 | |
3 | g.15641960C>A | CA351605268 | BTD | c.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 | |
3 | g.15641960C= | CA1347644821 | BTD | c.302C= (p.Thr101=) n.1141C= c.68C= (p.Thr23=) c.362C= (p.Thr121=) c.368C= (p.Thr123=) c.80C= (p.Thr27=) n.437C= | |
3 | g.15641960C>G | CA351605274 | BTD | c.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 |
3 | g.15641960C>T | CA2277299 | BTD | c.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 |
3 | g.15641961A>C | CA432649134 | BTD | c.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 | |
3 | g.15641961A>G | CA432649135 | BTD | c.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 | |
3 | g.15641961A>T | CA432649136 | BTD | c.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 | |
3 | g.15641962A= | CA1347644828 | BTD | c.304A= (p.Arg102=) n.1143A= c.70A= (p.Arg24=) c.364A= (p.Arg122=) c.370A= (p.Arg124=) c.82A= (p.Arg28=) n.439A= | |
3 | g.15641962A>C | CA432649137 | BTD | c.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 | |
3 | g.15641962A>G | CA278195 | BTD | c.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 |
3 | g.15641962A>T | CA351605276 | BTD | c.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 | |
3 | g.15641963G>A | CA351605280 | BTD | c.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 | |
3 | g.15641963G>C | CA351605282 | BTD | c.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 | |
3 | g.15641963G>T | CA351605285 | BTD | c.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 | |
3 | g.15641964A>C | CA351605288 | BTD | c.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 | |
3 | g.15641964A>G | CA432649138 | BTD | c.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 | |
3 | g.15641964A>T | CA351605290 | BTD | c.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 | |
3 | g.15641965A= | CA1347644833 | BTD | c.307A= (p.Thr103=) n.1146A= c.73A= (p.Thr25=) c.367A= (p.Thr123=) c.373A= (p.Thr125=) c.85A= (p.Thr29=) n.442A= | |
3 | g.15641965A>C | CA351605293 | BTD | c.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 | |
3 | g.15641965A>G | CA2277300 | BTD | c.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 |
3 | g.15641965A>T | CA351605297 | BTD | c.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 | |
3 | g.15641966C>A | CA351605300 | BTD | c.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 | |
3 | g.15641966C>G | CA351605302 | BTD | c.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 | |
3 | g.15641966C>T | CA351605305 | BTD | c.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 | |
3 | g.15641967A>C | CA432649139 | BTD | c.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 | |
3 | g.15641967A>G | CA432649140 | BTD | c.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 | |
3 | g.15641967A>T | CA432649141 | BTD | c.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 |
3 | g.15641968T>A | CA351605312 | BTD | c.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 |
3 | g.15641968T>C | CA351605310 | BTD | c.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 |
3 | g.15641968T>G | CA351605308 | BTD | c.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 | |
3 | g.15641969C>A | CA351605315 | BTD | c.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 | |
3 | g.15641969C= | CA1347644835 | BTD | c.311C= (p.Ser104=) n.1150C= c.77C= (p.Ser26=) c.371C= (p.Ser124=) c.377C= (p.Ser126=) c.89C= (p.Ser30=) n.446C= | |
3 | g.15641969C>G | CA351605318 | BTD | c.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 | |
3 | g.15641969C>T | CA351605319 | BTD | c.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 | |
3 | g.15641970C>A | CA432649143 | BTD | c.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 | |
3 | g.15641970C>G | CA432649144 | BTD | c.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 | |
3 | g.15641970C>T | CA432649145 | BTD | c.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 | |
3 | g.15641970_15641973dup | CA16040910 | BTD | c.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 |
3 | g.15641971A= | CA1347644845 | BTD | c.313A= (p.Ile105=) n.1152A= c.79A= (p.Ile27=) c.373A= (p.Ile125=) c.379A= (p.Ile127=) c.91A= (p.Ile31=) n.448A= | |
3 | g.15641971A>C | CA351605325 | BTD | c.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 | |
3 | g.15641971A>G | CA351605327 | BTD | c.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 |
3 | g.15641971A>T | CA351605331 | BTD | c.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 | |
3 | g.15641972T>A | CA351605334 | BTD | c.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 | |
3 | g.15641972T>C | CA351605336 | BTD | c.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 | |
3 | g.15641972T>G | CA351605339 | BTD | c.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 | |
3 | g.15641973T>A | CA432649150 | BTD | c.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 | |
3 | g.15641973T>C | CA432649147 | BTD | c.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 | |
3 | g.15641973T>G | CA351605342 | BTD | c.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 |
3 | g.15641973T= | CA1347644847 | BTD | c.315T= (p.Ile105=) n.1154T= c.81T= (p.Ile27=) c.375T= (p.Ile125=) c.381T= (p.Ile127=) c.93T= (p.Ile31=) n.450T= | |
3 | g.15641974T>A | CA351605349 | BTD | c.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 | |
3 | g.15641974T>C | CA351605347 | BTD | c.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 | |
3 | g.15641974T>G | CA351605344 | BTD | c.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 | |
3 | g.15641975A>C | CA351605354 | BTD | c.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 | |
3 | g.15641975A>G | CA351605361 | BTD | c.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 |
3 | g.15641975A>T | CA351605363 | BTD | c.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 |
3 | g.15641976T>A | CA351605366 | BTD | c.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 | |
3 | g.15641976T>C | CA432649152 | BTD | c.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 |
3 | g.15641976T>G | CA351605368 | BTD | c.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 | |
3 | g.15641977C>A | CA351605370 | BTD | c.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 | |
3 | g.15641977C>G | CA351605372 | BTD | c.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 | |
3 | g.15641977C>T | CA351605374 | BTD | c.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 |
3 | g.15641978C>A | CA351605377 | BTD | c.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 | |
3 | g.15641978C= | CA1347644852 | BTD | c.320C= (p.Pro107=) n.1159C= c.86C= (p.Pro29=) c.380C= (p.Pro127=) c.386C= (p.Pro129=) c.98C= (p.Pro33=) n.455C= | |
3 | g.15641978C>G | CA351605380 | BTD | c.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 | |
3 | g.15641978C>T | CA2277301 | BTD | c.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 |
3 | g.15641979A>C | CA432649153 | BTD | c.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 | |
3 | g.15641979A>G | CA432649154 | BTD | c.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 |
3 | g.15641979A>T | CA432649155 | BTD | c.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 | |
3 | g.15641980T>A | CA351605389 | BTD | c.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 | |
3 | g.15641980T>C | CA351605387 | BTD | c.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 |
3 | g.15641980T>G | CA278197 | BTD | c.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 |
3 | g.15641980T= | CA1347644856 | BTD | c.322T= (p.Phe108=) n.1161T= c.88T= (p.Phe30=) c.382T= (p.Phe128=) c.388T= (p.Phe130=) c.100T= (p.Phe34=) n.457T= | |
3 | g.15641984dup | CA2586971762 | BTD | c.326dup (p.Leu109PhefsTer23) n.1165dup c.92dup (p.Leu31PhefsTer23) c.386dup (p.Leu129PhefsTer23) c.392dup (p.Leu131PhefsTer23) c.104dup (p.Leu35PhefsTer23) n.461dup | |
3 | g.15641984del | CA2664637616 | BTD | c.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 |
3 | g.15641983_15641984del | CA2664637618 | BTD | c.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 |
3 | g.15641981T>A | CA351605392 | BTD | c.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 | |
3 | g.15641981T>C | CA351605394 | BTD | c.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 | |
3 | g.15641981T>G | CA351605396 | BTD | c.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 | |
3 | g.15641982T>A | CA351605400 | BTD | c.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 | |
3 | g.15641982T>C | CA432649156 | BTD | c.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 | |
3 | g.15641982T>G | CA351605403 | BTD | c.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 | |
3 | g.15641983T>A | CA351605406 | BTD | c.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 | |
3 | g.15641983T>C | CA432649157 | BTD | c.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 |
3 | g.15641983T>G | CA351605409 | BTD | c.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 | |
3 | g.15641984T>A | CA351605414 | BTD | c.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 | |
3 | g.15641984T>C | CA351605418 | BTD | c.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 | |
3 | g.15641984T>G | CA351605420 | BTD | c.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 | |
3 | g.15641985G>A | CA432649158 | BTD | c.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 | |
3 | g.15641985G>C | CA351605423 | BTD | c.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 | |
3 | g.15641985G>T | CA351605426 | BTD | c.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 | |
3 | g.15641986G>A | CA351605431 | BTD | c.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 |
3 | g.15641986G>C | CA351605436 | BTD | c.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 | |
3 | g.15641986G>T | CA351605429 | BTD | c.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 | |
3 | g.15641987A>C | CA351605446 | BTD | c.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 | |
3 | g.15641987A>G | CA351605440 | BTD | c.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 |
3 | g.15641987A>T | CA351605443 | BTD | c.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 | |
3 | g.15641988C>A | CA351605449 | BTD | c.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 | |
3 | g.15641988C>G | CA351605452 | BTD | c.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 | |
3 | g.15641988C>T | CA432649161 | BTD | c.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 |
3 | g.15641989_15641995del | CA2755328889 | BTD | c.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) | |
3 | g.15641989T>A | CA351605458 | BTD | c.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 |
3 | g.15641989T>C | CA351605459 | BTD | c.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 | |
3 | g.15641989T>G | CA351605462 | BTD | c.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 | |
3 | g.15641990T>A | CA351605465 | BTD | c.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 | |
3 | g.15641990T>C | CA351605469 | BTD | c.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 | |
3 | g.15641990T>G | CA351605473 | BTD | c.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 | |
3 | g.15641990_15641991delinsTC | CA1347644861 | BTD | c.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 | |
3 | g.15641991del | CA278198 | BTD | c.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 |
3 | g.15641991C>A | CA351605487 | BTD | c.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 | |
3 | g.15641991C>G | CA351605490 | BTD | c.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 | |
3 | g.15641991C>T | CA432649162 | BTD | c.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 | |
3 | g.15641992A= | CA1347644868 | BTD | c.334A= (p.Met112=) n.1173A= c.100A= (p.Met34=) c.394A= (p.Met132=) c.400A= (p.Met134=) c.112A= (p.Met38=) n.469A= | |
3 | g.15641992A>C | CA351605502 | BTD | c.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 | |
3 | g.15641992A>G | CA2277302 | BTD | c.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 |
3 | g.15641992A>T | CA351605500 | BTD | c.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 | |
3 | g.15641993T>A | CA351605508 | BTD | c.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 | |
3 | g.15641993T>C | CA351605509 | BTD | c.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 | |
3 | g.15641993T>G | CA351605510 | BTD | c.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 | |
3 | g.15641994G>A | CA351605517 | BTD | c.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 |
3 | g.15641994G>C | CA351605520 | BTD | c.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 | |
3 | g.15641994G= | CA1347644871 | BTD | c.336G= (p.Met112=) n.1175G= c.102G= (p.Met34=) c.396G= (p.Met132=) c.402G= (p.Met134=) c.114G= (p.Met38=) n.471G= | |
3 | g.15641994G>T | CA351605522 | BTD | c.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 | |
3 | g.15641995C>A | CA351605526 | BTD | c.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 | |
3 | g.15641995C>G | CA351605528 | BTD | c.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 | |
3 | g.15641995C>T | CA351605530 | BTD | c.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 | |
3 | g.15641996C>A | CA351605534 | BTD | c.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 | |
3 | g.15641996C= | CA1347644874 | BTD | c.338C= (p.Pro113=) n.1177C= c.104C= (p.Pro35=) c.398C= (p.Pro133=) c.404C= (p.Pro135=) c.116C= (p.Pro39=) n.473C= | |
3 | g.15641996C>G | CA351605537 | BTD | c.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 | |
3 | g.15641996C>T | CA70619255 | BTD | c.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 |
3 | g.15641997G>A | CA243087 | BTD | c.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 |
3 | g.15641997G>C | CA2277303 | BTD | c.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 |
3 | g.15641997G= | CA1347644879 | BTD | c.339G= (p.Pro113=) n.1178G= c.105G= (p.Pro35=) c.399G= (p.Pro133=) c.405G= (p.Pro135=) c.117G= (p.Pro39=) n.474G= | |
3 | g.15641997G>T | CA432649163 | BTD | c.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 |
3 | g.15641998T>A | CA351605551 | BTD | c.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 | |
3 | g.15641998T>C | CA2277304 | BTD | c.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 |
3 | g.15641998T>G | CA351605556 | BTD | c.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 | |
3 | g.15641998T= | CA1347644883 | BTD | c.340T= (p.Ser114=) n.1179T= c.106T= (p.Ser36=) c.400T= (p.Ser134=) c.406T= (p.Ser136=) c.118T= (p.Ser40=) n.475T= | |
3 | g.15641999C>A | CA351605558 | BTD | c.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 | |
3 | g.15641999C>G | CA351605559 | BTD | c.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 | |
3 | g.15641999C>T | CA351605562 | BTD | c.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 | |
3 | g.15642000T>A | CA432649164 | BTD | c.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 | |
3 | g.15642000T>C | CA432649165 | BTD | c.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 | |
3 | g.15642000T>G | CA432649166 | BTD | c.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 | |
3 | g.15642000_15642001delinsTC | CA1347644885 | BTD | c.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 | |
3 | g.15642001C>A | CA351605565 | BTD | c.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 | |
3 | g.15642001C= | CA1347644891 | BTD | c.343C= (p.Pro115=) n.1182C= c.109C= (p.Pro37=) c.403C= (p.Pro135=) c.409C= (p.Pro137=) c.121C= (p.Pro41=) n.478C= | |
3 | g.15642001C>G | CA351605567 | BTD | c.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 | |
3 | g.15642001C>T | CA351605570 | BTD | c.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 |
3 | g.15642004del | CA541347902 | BTD | c.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 |
3 | g.15642002C>A | CA351605573 | BTD | c.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 | |
3 | g.15642002C>G | CA351605576 | BTD | c.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 |
3 | g.15642002C>T | CA351605578 | BTD | c.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 | |
3 | g.15642003C>A | CA432649167 | BTD | c.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 | |
3 | g.15642003C= | CA1347644894 | BTD | c.345C= (p.Pro115=) n.1184C= c.111C= (p.Pro37=) c.405C= (p.Pro135=) c.411C= (p.Pro137=) c.123C= (p.Pro41=) n.480C= | |
3 | g.15642003C>G | CA432649168 | BTD | c.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 |
3 | g.15642003C>T | CA2277305 | BTD | c.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 |