Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51915443_51915496del | CA2695216750 | ACVRL1 | c.721_774del (p.Phe241_Asp258del) c.991_1044del (p.Phe331_Asp348del) c.469_522del (p.Phe157_Asp174del) c.1033_1086del (p.Phe345_Asp362del) c.202_255del (p.Phe68_Asp85del) | |
12 | g.51915448G>A | CA480063278 | ACVRL1 | c.726G>A (p.Lys242=) c.996G>A (p.Lys332=) c.474G>A (p.Lys158=) c.1038G>A (p.Lys346=) c.1G>A c.207G>A (p.Lys69=) | gnomAD v4 |
12 | g.51915448G>C | CA384901505 | ACVRL1 | c.726G>C (p.Lys242Asn) c.996G>C (p.Lys332Asn) c.474G>C (p.Lys158Asn) c.1038G>C (p.Lys346Asn) c.1G>C c.207G>C (p.Lys69Asn) | |
12 | g.51915448G>T | CA384901508 | ACVRL1 | c.726G>T (p.Lys242Asn) c.996G>T (p.Lys332Asn) c.474G>T (p.Lys158Asn) c.1038G>T (p.Lys346Asn) c.1G>T c.207G>T (p.Lys69Asn) | |
12 | g.51915449A>C | CA384901510 | ACVRL1 | c.727A>C (p.Ser243Arg) c.997A>C (p.Ser333Arg) c.475A>C (p.Ser159Arg) c.1039A>C (p.Ser347Arg) c.2A>C c.208A>C (p.Ser70Arg) | |
12 | g.51915449A>G | CA384901513 | ACVRL1 | c.727A>G (p.Ser243Gly) c.997A>G (p.Ser333Gly) c.475A>G (p.Ser159Gly) c.1039A>G (p.Ser347Gly) c.2A>G c.208A>G (p.Ser70Gly) | |
12 | g.51915449A>T | CA384901512 | ACVRL1 | c.727A>T (p.Ser243Cys) c.997A>T (p.Ser333Cys) c.475A>T (p.Ser159Cys) c.1039A>T (p.Ser347Cys) c.2A>T c.208A>T (p.Ser70Cys) | ClinVar dbSNP |
12 | g.51915450G>A | CA384901515 | ACVRL1 | c.728G>A (p.Ser243Asn) c.998G>A (p.Ser333Asn) c.476G>A (p.Ser159Asn) c.1040G>A (p.Ser347Asn) c.3G>A c.209G>A (p.Ser70Asn) | |
12 | g.51915450G>C | CA384901517 | ACVRL1 | c.728G>C (p.Ser243Thr) c.998G>C (p.Ser333Thr) c.476G>C (p.Ser159Thr) c.1040G>C (p.Ser347Thr) c.3G>C c.209G>C (p.Ser70Thr) | |
12 | g.51915450G= | CA2036269532 | ACVRL1 | c.728G= (p.Ser243=) c.998G= (p.Ser333=) c.476G= (p.Ser159=) c.1040G= (p.Ser347=) c.3G= c.209G= (p.Ser70=) | |
12 | g.51915450G>T | CA322708 | ACVRL1 | c.728G>T (p.Ser243Ile) c.998G>T (p.Ser333Ile) c.476G>T (p.Ser159Ile) c.1040G>T (p.Ser347Ile) c.3G>T c.209G>T (p.Ser70Ile) | ClinVar dbSNP |
12 | g.51915451C>A | CA384901522 | ACVRL1 | c.729C>A (p.Ser243Arg) c.999C>A (p.Ser333Arg) c.477C>A (p.Ser159Arg) c.1041C>A (p.Ser347Arg) c.4C>A c.210C>A (p.Ser70Arg) | ClinVar COSMIC |
12 | g.51915451C= | CA2036269533 | ACVRL1 | c.729C= (p.Ser243=) c.999C= (p.Ser333=) c.477C= (p.Ser159=) c.1041C= (p.Ser347=) c.4C= c.210C= (p.Ser70=) | |
12 | g.51915451C>G | CA384901524 | ACVRL1 | c.729C>G (p.Ser243Arg) c.999C>G (p.Ser333Arg) c.477C>G (p.Ser159Arg) c.1041C>G (p.Ser347Arg) c.4C>G c.210C>G (p.Ser70Arg) | ClinVar dbSNP |
12 | g.51915451C>T | CA480063279 | ACVRL1 | c.729C>T (p.Ser243=) c.999C>T (p.Ser333=) c.477C>T (p.Ser159=) c.1041C>T (p.Ser347=) c.4C>T c.210C>T (p.Ser70=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915452del | CA2695216751 | ACVRL1 | c.730del (p.Arg244AlafsTer20) c.1000del (p.Arg334AlafsTer20) c.478del (p.Arg160AlafsTer20) c.1042del (p.Arg348AlafsTer20) c.5del c.211del (p.Arg71AlafsTer20) | |
12 | g.51915452C>A | CA384901536 | ACVRL1 | c.730C>A (p.Arg244Ser) c.1000C>A (p.Arg334Ser) c.478C>A (p.Arg160Ser) c.1042C>A (p.Arg348Ser) c.5C>A c.211C>A (p.Arg71Ser) | |
12 | g.51915452C= | CA2036269534 | ACVRL1 | c.730C= (p.Arg244=) c.1000C= (p.Arg334=) c.478C= (p.Arg160=) c.1042C= (p.Arg348=) c.5C= c.211C= (p.Arg71=) | |
12 | g.51915452C>G | CA384901537 | ACVRL1 | c.730C>G (p.Arg244Gly) c.1000C>G (p.Arg334Gly) c.478C>G (p.Arg160Gly) c.1042C>G (p.Arg348Gly) c.5C>G c.211C>G (p.Arg71Gly) | |
12 | g.51915452C>T | CA236364179 | ACVRL1 | c.730C>T (p.Arg244Cys) c.1000C>T (p.Arg334Cys) c.478C>T (p.Arg160Cys) c.1042C>T (p.Arg348Cys) c.5C>T c.211C>T (p.Arg71Cys) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915452_51915457delinsG | CA2695216752 | ACVRL1 | c.730_735delinsG (p.Arg244GlyfsTer?) c.1000_1005delinsG (p.Arg334GlyfsTer?) c.478_483delinsG (p.Arg160GlyfsTer?) c.1042_1047delinsG (p.Arg348GlyfsTer?) c.5_10delinsG c.211_216delinsG (p.Arg71GlyfsTer?) | |
12 | g.51915453G>A | CA384901543 | ACVRL1 | c.731G>A (p.Arg244His) c.1001G>A (p.Arg334His) c.479G>A (p.Arg160His) c.1043G>A (p.Arg348His) c.6G>A c.212G>A (p.Arg71His) | dbSNP gnomAD v4 |
12 | g.51915453G>C | CA384901571 | ACVRL1 | c.731G>C (p.Arg244Pro) c.1001G>C (p.Arg334Pro) c.479G>C (p.Arg160Pro) c.1043G>C (p.Arg348Pro) c.6G>C c.212G>C (p.Arg71Pro) | |
12 | g.51915453G= | CA2036269535 | ACVRL1 | c.731G= (p.Arg244=) c.1001G= (p.Arg334=) c.479G= (p.Arg160=) c.1043G= (p.Arg348=) c.6G= c.212G= (p.Arg71=) | |
12 | g.51915453G>T | CA384901577 | ACVRL1 | c.731G>T (p.Arg244Leu) c.1001G>T (p.Arg334Leu) c.479G>T (p.Arg160Leu) c.1043G>T (p.Arg348Leu) c.6G>T c.212G>T (p.Arg71Leu) | |
12 | g.51915454C>A | CA480063280 | ACVRL1 | c.732C>A (p.Arg244=) c.1002C>A (p.Arg334=) c.480C>A (p.Arg160=) c.1044C>A (p.Arg348=) c.7C>A c.213C>A (p.Arg71=) | |
12 | g.51915454C>G | CA480063281 | ACVRL1 | c.732C>G (p.Arg244=) c.1002C>G (p.Arg334=) c.480C>G (p.Arg160=) c.1044C>G (p.Arg348=) c.7C>G c.213C>G (p.Arg71=) | |
12 | g.51915454C>T | CA480063282 | ACVRL1 | c.732C>T (p.Arg244=) c.1002C>T (p.Arg334=) c.480C>T (p.Arg160=) c.1044C>T (p.Arg348=) c.7C>T c.213C>T (p.Arg71=) | |
12 | g.51915455A>C | CA384901587 | ACVRL1 | c.733A>C (p.Asn245His) c.1003A>C (p.Asn335His) c.481A>C (p.Asn161His) c.1045A>C (p.Asn349His) c.8A>C c.214A>C (p.Asn72His) | ClinVar dbSNP |
12 | g.51915455A>G | CA384901588 | ACVRL1 | c.733A>G (p.Asn245Asp) c.1003A>G (p.Asn335Asp) c.481A>G (p.Asn161Asp) c.1045A>G (p.Asn349Asp) c.8A>G c.214A>G (p.Asn72Asp) | |
12 | g.51915455A>T | CA384901583 | ACVRL1 | c.733A>T (p.Asn245Tyr) c.1003A>T (p.Asn335Tyr) c.481A>T (p.Asn161Tyr) c.1045A>T (p.Asn349Tyr) c.8A>T c.214A>T (p.Asn72Tyr) | |
12 | g.51915456A= | CA2036269536 | ACVRL1 | c.734A= (p.Asn245=) c.1004A= (p.Asn335=) c.482A= (p.Asn161=) c.1046A= (p.Asn349=) c.9A= c.215A= (p.Asn72=) | |
12 | g.51915456A>C | CA384901593 | ACVRL1 | c.734A>C (p.Asn245Thr) c.1004A>C (p.Asn335Thr) c.482A>C (p.Asn161Thr) c.1046A>C (p.Asn349Thr) c.9A>C c.215A>C (p.Asn72Thr) | |
12 | g.51915456A>G | CA384901591 | ACVRL1 | c.734A>G (p.Asn245Ser) c.1004A>G (p.Asn335Ser) c.482A>G (p.Asn161Ser) c.1046A>G (p.Asn349Ser) c.9A>G c.215A>G (p.Asn72Ser) | ClinVar dbSNP gnomAD v4 |
12 | g.51915456A>T | CA16614166 | ACVRL1 | c.734A>T (p.Asn245Ile) c.1004A>T (p.Asn335Ile) c.482A>T (p.Asn161Ile) c.1046A>T (p.Asn349Ile) c.9A>T c.215A>T (p.Asn72Ile) | ClinVar dbSNP |
12 | g.51915457T>A | CA384901598 | ACVRL1 | c.735T>A (p.Asn245Lys) c.1005T>A (p.Asn335Lys) c.483T>A (p.Asn161Lys) c.1047T>A (p.Asn349Lys) c.10T>A c.216T>A (p.Asn72Lys) | |
12 | g.51915457T>C | CA480063283 | ACVRL1 | c.735T>C (p.Asn245=) c.1005T>C (p.Asn335=) c.483T>C (p.Asn161=) c.1047T>C (p.Asn349=) c.10T>C c.216T>C (p.Asn72=) | ClinVar dbSNP gnomAD v4 |
12 | g.51915457T>G | CA384901601 | ACVRL1 | c.735T>G (p.Asn245Lys) c.1005T>G (p.Asn335Lys) c.483T>G (p.Asn161Lys) c.1047T>G (p.Asn349Lys) c.10T>G c.216T>G (p.Asn72Lys) | |
12 | g.51915457T= | CA2036269537 | ACVRL1 | c.735T= (p.Asn245=) c.1005T= (p.Asn335=) c.483T= (p.Asn161=) c.1047T= (p.Asn349=) c.10T= c.216T= (p.Asn72=) | |
12 | g.51915458G>A | CA384901606 | ACVRL1 | c.736G>A (p.Val246Met) c.1006G>A (p.Val336Met) c.484G>A (p.Val162Met) c.1048G>A (p.Val350Met) c.11G>A c.217G>A (p.Val73Met) | COSMIC COSMIC |
12 | g.51915458G>C | CA384901608 | ACVRL1 | c.736G>C (p.Val246Leu) c.1006G>C (p.Val336Leu) c.484G>C (p.Val162Leu) c.1048G>C (p.Val350Leu) c.11G>C c.217G>C (p.Val73Leu) | |
12 | g.51915458G>T | CA384901610 | ACVRL1 | c.736G>T (p.Val246Leu) c.1006G>T (p.Val336Leu) c.484G>T (p.Val162Leu) c.1048G>T (p.Val350Leu) c.11G>T c.217G>T (p.Val73Leu) | |
12 | g.51915459T>A | CA384901612 | ACVRL1 | c.737T>A (p.Val246Glu) c.1007T>A (p.Val336Glu) c.485T>A (p.Val162Glu) c.1049T>A (p.Val350Glu) c.12T>A c.218T>A (p.Val73Glu) | ClinVar dbSNP |
12 | g.51915459T>C | CA384901614 | ACVRL1 | c.737T>C (p.Val246Ala) c.1007T>C (p.Val336Ala) c.485T>C (p.Val162Ala) c.1049T>C (p.Val350Ala) c.12T>C c.218T>C (p.Val73Ala) | |
12 | g.51915459T>G | CA384901615 | ACVRL1 | c.737T>G (p.Val246Gly) c.1007T>G (p.Val336Gly) c.485T>G (p.Val162Gly) c.1049T>G (p.Val350Gly) c.12T>G c.218T>G (p.Val73Gly) | |
12 | g.51915459T= | CA2036269538 | ACVRL1 | c.737T= (p.Val246=) c.1007T= (p.Val336=) c.485T= (p.Val162=) c.1049T= (p.Val350=) c.12T= c.218T= (p.Val73=) | |
12 | g.51915460G>A | CA480063284 | ACVRL1 | c.738G>A (p.Val246=) c.1008G>A (p.Val336=) c.486G>A (p.Val162=) c.1050G>A (p.Val350=) c.13G>A c.219G>A (p.Val73=) | |
12 | g.51915460G>C | CA480063285 | ACVRL1 | c.738G>C (p.Val246=) c.1008G>C (p.Val336=) c.486G>C (p.Val162=) c.1050G>C (p.Val350=) c.13G>C c.219G>C (p.Val73=) | |
12 | g.51915460G>T | CA480063286 | ACVRL1 | c.738G>T (p.Val246=) c.1008G>T (p.Val336=) c.486G>T (p.Val162=) c.1050G>T (p.Val350=) c.13G>T c.219G>T (p.Val73=) | gnomAD v4 |
12 | g.51915460_51915461del | CA2697554494 | ACVRL1 | c.738_739del (p.Leu247GlyfsTer?) c.1008_1009del (p.Leu337GlyfsTer?) c.486_487del (p.Leu163GlyfsTer?) c.1050_1051del (p.Leu351GlyfsTer?) c.13_14del c.219_220del (p.Leu74GlyfsTer?) | ClinVar |
12 | g.51915461C>A | CA384901617 | ACVRL1 | c.739C>A (p.Leu247Met) c.1009C>A (p.Leu337Met) c.487C>A (p.Leu163Met) c.1051C>A (p.Leu351Met) c.14C>A c.220C>A (p.Leu74Met) | dbSNP gnomAD v2 |
12 | g.51915461C= | CA2036269539 | ACVRL1 | c.739C= (p.Leu247=) c.1009C= (p.Leu337=) c.487C= (p.Leu163=) c.1051C= (p.Leu351=) c.14C= c.220C= (p.Leu74=) | |
12 | g.51915461C>G | CA384901618 | ACVRL1 | c.739C>G (p.Leu247Val) c.1009C>G (p.Leu337Val) c.487C>G (p.Leu163Val) c.1051C>G (p.Leu351Val) c.14C>G c.220C>G (p.Leu74Val) | |
12 | g.51915461C>T | CA480063287 | ACVRL1 | c.739C>T (p.Leu247=) c.1009C>T (p.Leu337=) c.487C>T (p.Leu163=) c.1051C>T (p.Leu351=) c.14C>T c.220C>T (p.Leu74=) | |
12 | g.51915462del | CA2499221748 | ACVRL1 | c.740del (p.Leu247ArgfsTer17) c.1010del (p.Leu337ArgfsTer17) c.488del (p.Leu163ArgfsTer17) c.1052del (p.Leu351ArgfsTer17) c.15del c.221del (p.Leu74ArgfsTer17) | ClinVar dbSNP |
12 | g.51915462T>A | CA384901621 | ACVRL1 | c.740T>A (p.Leu247Gln) c.1010T>A (p.Leu337Gln) c.488T>A (p.Leu163Gln) c.1052T>A (p.Leu351Gln) c.15T>A c.221T>A (p.Leu74Gln) | |
12 | g.51915462T>C | CA384901627 | ACVRL1 | c.740T>C (p.Leu247Pro) c.1010T>C (p.Leu337Pro) c.488T>C (p.Leu163Pro) c.1052T>C (p.Leu351Pro) c.15T>C c.221T>C (p.Leu74Pro) | ClinVar dbSNP |
12 | g.51915462T>G | CA384901628 | ACVRL1 | c.740T>G (p.Leu247Arg) c.1010T>G (p.Leu337Arg) c.488T>G (p.Leu163Arg) c.1052T>G (p.Leu351Arg) c.15T>G c.221T>G (p.Leu74Arg) | ClinVar |
12 | g.51915462T= | CA2036269540 | ACVRL1 | c.740T= (p.Leu247=) c.1010T= (p.Leu337=) c.488T= (p.Leu163=) c.1052T= (p.Leu351=) c.15T= c.221T= (p.Leu74=) | |
12 | g.51915463G>A | CA236364185 | ACVRL1 | c.741G>A (p.Leu247=) c.1011G>A (p.Leu337=) c.489G>A (p.Leu163=) c.1053G>A (p.Leu351=) c.16G>A c.222G>A (p.Leu74=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915463G>C | CA480063288 | ACVRL1 | c.741G>C (p.Leu247=) c.1011G>C (p.Leu337=) c.489G>C (p.Leu163=) c.1053G>C (p.Leu351=) c.16G>C c.222G>C (p.Leu74=) | |
12 | g.51915463G= | CA2036269541 | ACVRL1 | c.741G= (p.Leu247=) c.1011G= (p.Leu337=) c.489G= (p.Leu163=) c.1053G= (p.Leu351=) c.16G= c.222G= (p.Leu74=) | |
12 | g.51915463G>T | CA480063289 | ACVRL1 | c.741G>T (p.Leu247=) c.1011G>T (p.Leu337=) c.489G>T (p.Leu163=) c.1053G>T (p.Leu351=) c.16G>T c.222G>T (p.Leu74=) | |
12 | g.51915464G>A | CA384901633 | ACVRL1 | c.742G>A (p.Val248Ile) c.1012G>A (p.Val338Ile) c.490G>A (p.Val164Ile) c.1054G>A (p.Val352Ile) c.17G>A c.223G>A (p.Val75Ile) | |
12 | g.51915464G>C | CA384901637 | ACVRL1 | c.742G>C (p.Val248Leu) c.1012G>C (p.Val338Leu) c.490G>C (p.Val164Leu) c.1054G>C (p.Val352Leu) c.17G>C c.223G>C (p.Val75Leu) | |
12 | g.51915464G>T | CA384901639 | ACVRL1 | c.742G>T (p.Val248Phe) c.1012G>T (p.Val338Phe) c.490G>T (p.Val164Phe) c.1054G>T (p.Val352Phe) c.17G>T c.223G>T (p.Val75Phe) | ClinVar |
12 | g.51915465T>A | CA384901640 | ACVRL1 | c.743T>A (p.Val248Asp) c.1013T>A (p.Val338Asp) c.491T>A (p.Val164Asp) c.1055T>A (p.Val352Asp) c.18T>A c.224T>A (p.Val75Asp) | |
12 | g.51915465T>C | CA384901643 | ACVRL1 | c.743T>C (p.Val248Ala) c.1013T>C (p.Val338Ala) c.491T>C (p.Val164Ala) c.1055T>C (p.Val352Ala) c.18T>C c.224T>C (p.Val75Ala) | |
12 | g.51915465T>G | CA384901651 | ACVRL1 | c.743T>G (p.Val248Gly) c.1013T>G (p.Val338Gly) c.491T>G (p.Val164Gly) c.1055T>G (p.Val352Gly) c.18T>G c.224T>G (p.Val75Gly) | ClinVar dbSNP |
12 | g.51915465T= | CA2036269542 | ACVRL1 | c.743T= (p.Val248=) c.1013T= (p.Val338=) c.491T= (p.Val164=) c.1055T= (p.Val352=) c.18T= c.224T= (p.Val75=) | |
12 | g.51915466C>A | CA480063290 | ACVRL1 | c.744C>A (p.Val248=) c.1014C>A (p.Val338=) c.492C>A (p.Val164=) c.1056C>A (p.Val352=) c.19C>A c.225C>A (p.Val75=) | gnomAD v4 |
12 | g.51915466C= | CA2036269543 | ACVRL1 | c.744C= (p.Val248=) c.1014C= (p.Val338=) c.492C= (p.Val164=) c.1056C= (p.Val352=) c.19C= c.225C= (p.Val75=) | |
12 | g.51915466C>G | CA480063291 | ACVRL1 | c.744C>G (p.Val248=) c.1014C>G (p.Val338=) c.492C>G (p.Val164=) c.1056C>G (p.Val352=) c.19C>G c.225C>G (p.Val75=) | |
12 | g.51915466C>T | CA480063292 | ACVRL1 | c.744C>T (p.Val248=) c.1014C>T (p.Val338=) c.492C>T (p.Val164=) c.1056C>T (p.Val352=) c.19C>T c.225C>T (p.Val75=) | ClinVar dbSNP gnomAD v4 |
12 | g.51915467A= | CA2036269544 | ACVRL1 | c.745A= (p.Lys249=) c.1015A= (p.Lys339=) c.493A= (p.Lys165=) c.1057A= (p.Lys353=) c.20A= c.226A= (p.Lys76=) | |
12 | g.51915467A>C | CA384901652 | ACVRL1 | c.745A>C (p.Lys249Gln) c.1015A>C (p.Lys339Gln) c.493A>C (p.Lys165Gln) c.1057A>C (p.Lys353Gln) c.20A>C c.226A>C (p.Lys76Gln) | |
12 | g.51915467A>G | CA384901653 | ACVRL1 | c.745A>G (p.Lys249Glu) c.1015A>G (p.Lys339Glu) c.493A>G (p.Lys165Glu) c.1057A>G (p.Lys353Glu) c.20A>G c.226A>G (p.Lys76Glu) | |
12 | g.51915467A>T | CA384901655 | ACVRL1 | c.745A>T (p.Lys249Ter) c.1015A>T (p.Lys339Ter) c.493A>T (p.Lys165Ter) c.1057A>T (p.Lys353Ter) c.20A>T c.226A>T (p.Lys76Ter) | ClinVar dbSNP |
12 | g.51915468A= | CA2036269545 | ACVRL1 | c.746A= (p.Lys249=) c.1016A= (p.Lys339=) c.494A= (p.Lys165=) c.1058A= (p.Lys353=) c.21A= c.227A= (p.Lys76=) | |
12 | g.51915468A>C | CA384901658 | ACVRL1 | c.746A>C (p.Lys249Thr) c.1016A>C (p.Lys339Thr) c.494A>C (p.Lys165Thr) c.1058A>C (p.Lys353Thr) c.21A>C c.227A>C (p.Lys76Thr) | |
12 | g.51915468A>G | CA384901659 | ACVRL1 | c.746A>G (p.Lys249Arg) c.1016A>G (p.Lys339Arg) c.494A>G (p.Lys165Arg) c.1058A>G (p.Lys353Arg) c.21A>G c.227A>G (p.Lys76Arg) | dbSNP gnomAD v2 |
12 | g.51915468A>T | CA384901662 | ACVRL1 | c.746A>T (p.Lys249Met) c.1016A>T (p.Lys339Met) c.494A>T (p.Lys165Met) c.1058A>T (p.Lys353Met) c.21A>T c.227A>T (p.Lys76Met) | |
12 | g.51915469G>A | CA480063293 | ACVRL1 | c.747G>A (p.Lys249=) c.1017G>A (p.Lys339=) c.495G>A (p.Lys165=) c.1059G>A (p.Lys353=) c.22G>A c.228G>A (p.Lys76=) | gnomAD v4 |
12 | g.51915469G>C | CA236364199 | ACVRL1 | c.747G>C (p.Lys249Asn) c.1017G>C (p.Lys339Asn) c.495G>C (p.Lys165Asn) c.1059G>C (p.Lys353Asn) c.22G>C c.228G>C (p.Lys76Asn) | dbSNP |
12 | g.51915469G= | CA2036269546 | ACVRL1 | c.747G= (p.Lys249=) c.1017G= (p.Lys339=) c.495G= (p.Lys165=) c.1059G= (p.Lys353=) c.22G= c.228G= (p.Lys76=) | |
12 | g.51915469G>T | CA384901665 | ACVRL1 | c.747G>T (p.Lys249Asn) c.1017G>T (p.Lys339Asn) c.495G>T (p.Lys165Asn) c.1059G>T (p.Lys353Asn) c.22G>T c.228G>T (p.Lys76Asn) | gnomAD v4 |
12 | g.51915470A= | CA2036269547 | ACVRL1 | c.748A= (p.Ser250=) c.1018A= (p.Ser340=) c.496A= (p.Ser166=) c.1060A= (p.Ser354=) c.23A= c.229A= (p.Ser77=) | |
12 | g.51915470A>C | CA384901668 | ACVRL1 | c.748A>C (p.Ser250Arg) c.1018A>C (p.Ser340Arg) c.496A>C (p.Ser166Arg) c.1060A>C (p.Ser354Arg) c.23A>C c.229A>C (p.Ser77Arg) | |
12 | g.51915470A>G | CA384901674 | ACVRL1 | c.748A>G (p.Ser250Gly) c.1018A>G (p.Ser340Gly) c.496A>G (p.Ser166Gly) c.1060A>G (p.Ser354Gly) c.23A>G c.229A>G (p.Ser77Gly) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915470A>T | CA384901672 | ACVRL1 | c.748A>T (p.Ser250Cys) c.1018A>T (p.Ser340Cys) c.496A>T (p.Ser166Cys) c.1060A>T (p.Ser354Cys) c.23A>T c.229A>T (p.Ser77Cys) | |
12 | g.51915471G>A | CA384901675 | ACVRL1 | c.749G>A (p.Ser250Asn) c.1019G>A (p.Ser340Asn) c.497G>A (p.Ser166Asn) c.1061G>A (p.Ser354Asn) c.24G>A c.230G>A (p.Ser77Asn) | |
12 | g.51915471G>C | CA384901677 | ACVRL1 | c.749G>C (p.Ser250Thr) c.1019G>C (p.Ser340Thr) c.497G>C (p.Ser166Thr) c.1061G>C (p.Ser354Thr) c.24G>C c.230G>C (p.Ser77Thr) | |
12 | g.51915471G>T | CA384901679 | ACVRL1 | c.749G>T (p.Ser250Ile) c.1019G>T (p.Ser340Ile) c.497G>T (p.Ser166Ile) c.1061G>T (p.Ser354Ile) c.24G>T c.230G>T (p.Ser77Ile) | |
12 | g.51915472C>A | CA384901680 | ACVRL1 | c.750C>A (p.Ser250Arg) c.1020C>A (p.Ser340Arg) c.498C>A (p.Ser166Arg) c.1062C>A (p.Ser354Arg) c.25C>A c.231C>A (p.Ser77Arg) | |
12 | g.51915472C>G | CA384901682 | ACVRL1 | c.750C>G (p.Ser250Arg) c.1020C>G (p.Ser340Arg) c.498C>G (p.Ser166Arg) c.1062C>G (p.Ser354Arg) c.25C>G c.231C>G (p.Ser77Arg) | |
12 | g.51915472C>T | CA480063294 | ACVRL1 | c.750C>T (p.Ser250=) c.1020C>T (p.Ser340=) c.498C>T (p.Ser166=) c.1062C>T (p.Ser354=) c.25C>T c.231C>T (p.Ser77=) | gnomAD v4 |
12 | g.51915473A>C | CA384901687 | ACVRL1 | c.751A>C (p.Asn251His) c.1021A>C (p.Asn341His) c.499A>C (p.Asn167His) c.1063A>C (p.Asn355His) c.26A>C c.232A>C (p.Asn78His) | |
12 | g.51915473A>G | CA384901689 | ACVRL1 | c.751A>G (p.Asn251Asp) c.1021A>G (p.Asn341Asp) c.499A>G (p.Asn167Asp) c.1063A>G (p.Asn355Asp) c.26A>G c.232A>G (p.Asn78Asp) | |
12 | g.51915473A>T | CA384901691 | ACVRL1 | c.751A>T (p.Asn251Tyr) c.1021A>T (p.Asn341Tyr) c.499A>T (p.Asn167Tyr) c.1063A>T (p.Asn355Tyr) c.26A>T c.232A>T (p.Asn78Tyr) | gnomAD v4 |
12 | g.51915473_51915494delinsAACCTGCAGTGTTGCATCGCCG | CA2036269548 | ACVRL1 | c.751_772delinsAACCTGCAGTGTTGCATCGCCG (p.Asn251=) c.1021_1042delinsAACCTGCAGTGTTGCATCGCCG (p.Asn341=) c.499_520delinsAACCTGCAGTGTTGCATCGCCG (p.Asn167=) c.1063_1084delinsAACCTGCAGTGTTGCATCGCCG (p.Asn355=) c.26_47delinsAACCTGCAGTGTTGCATCGCCG c.232_253delinsAACCTGCAGTGTTGCATCGCCG (p.Asn78=) | |
12 | g.51915474A= | CA2036269549 | ACVRL1 | c.752A= (p.Asn251=) c.1022A= (p.Asn341=) c.500A= (p.Asn167=) c.1064A= (p.Asn355=) c.27A= c.233A= (p.Asn78=) | |
12 | g.51915474A>C | CA384901695 | ACVRL1 | c.752A>C (p.Asn251Thr) c.1022A>C (p.Asn341Thr) c.500A>C (p.Asn167Thr) c.1064A>C (p.Asn355Thr) c.27A>C c.233A>C (p.Asn78Thr) | |
12 | g.51915474A>G | CA6573033 | ACVRL1 | c.752A>G (p.Asn251Ser) c.1022A>G (p.Asn341Ser) c.500A>G (p.Asn167Ser) c.1064A>G (p.Asn355Ser) c.27A>G c.233A>G (p.Asn78Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915474A>T | CA384901700 | ACVRL1 | c.752A>T (p.Asn251Ile) c.1022A>T (p.Asn341Ile) c.500A>T (p.Asn167Ile) c.1064A>T (p.Asn355Ile) c.27A>T c.233A>T (p.Asn78Ile) | |
12 | g.51915479_51915499del | CA915948525 | ACVRL1 | c.757_777del (p.Gln253_Leu259del) c.1027_1047del (p.Gln343_Leu349del) c.505_525del (p.Gln169_Leu175del) c.1069_1089del (p.Gln357_Leu363del) c.32_52del c.238_258del (p.Gln80_Leu86del) | ClinVar dbSNP |
12 | g.51915475C>A | CA384901701 | ACVRL1 | c.753C>A (p.Asn251Lys) c.1023C>A (p.Asn341Lys) c.501C>A (p.Asn167Lys) c.1065C>A (p.Asn355Lys) c.28C>A c.234C>A (p.Asn78Lys) | |
12 | g.51915475C>G | CA384901702 | ACVRL1 | c.753C>G (p.Asn251Lys) c.1023C>G (p.Asn341Lys) c.501C>G (p.Asn167Lys) c.1065C>G (p.Asn355Lys) c.28C>G c.234C>G (p.Asn78Lys) | ClinVar |
12 | g.51915475C>T | CA480063295 | ACVRL1 | c.753C>T (p.Asn251=) c.1023C>T (p.Asn341=) c.501C>T (p.Asn167=) c.1065C>T (p.Asn355=) c.28C>T c.234C>T (p.Asn78=) | |
12 | g.51915476C>A | CA384901704 | ACVRL1 | c.754C>A (p.Leu252Met) c.1024C>A (p.Leu342Met) c.502C>A (p.Leu168Met) c.1066C>A (p.Leu356Met) c.29C>A c.235C>A (p.Leu79Met) | |
12 | g.51915476C= | CA2036269550 | ACVRL1 | c.754C= (p.Leu252=) c.1024C= (p.Leu342=) c.502C= (p.Leu168=) c.1066C= (p.Leu356=) c.29C= c.235C= (p.Leu79=) | |
12 | g.51915476C>G | CA384901703 | ACVRL1 | c.754C>G (p.Leu252Val) c.1024C>G (p.Leu342Val) c.502C>G (p.Leu168Val) c.1066C>G (p.Leu356Val) c.29C>G c.235C>G (p.Leu79Val) | |
12 | g.51915476C>T | CA6573034 | ACVRL1 | c.754C>T (p.Leu252=) c.1024C>T (p.Leu342=) c.502C>T (p.Leu168=) c.1066C>T (p.Leu356=) c.29C>T c.235C>T (p.Leu79=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915477T>A | CA384901709 | ACVRL1 | c.755T>A (p.Leu252Gln) c.1025T>A (p.Leu342Gln) c.503T>A (p.Leu168Gln) c.1067T>A (p.Leu356Gln) c.30T>A c.236T>A (p.Leu79Gln) | |
12 | g.51915477T>C | CA384901711 | ACVRL1 | c.755T>C (p.Leu252Pro) c.1025T>C (p.Leu342Pro) c.503T>C (p.Leu168Pro) c.1067T>C (p.Leu356Pro) c.30T>C c.236T>C (p.Leu79Pro) | ClinVar dbSNP |
12 | g.51915477T>G | CA6573035 | ACVRL1 | c.755T>G (p.Leu252Arg) c.1025T>G (p.Leu342Arg) c.503T>G (p.Leu168Arg) c.1067T>G (p.Leu356Arg) c.30T>G c.236T>G (p.Leu79Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915477T= | CA2036269552 | ACVRL1 | c.755T= (p.Leu252=) c.1025T= (p.Leu342=) c.503T= (p.Leu168=) c.1067T= (p.Leu356=) c.30T= c.236T= (p.Leu79=) | |
12 | g.51915477_51915514delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG | CA2036269551 | ACVRL1 | c.755_778+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG c.1025_1048+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG c.503_526+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG c.1067_1090+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG c.30_53+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG c.236_259+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG | |
12 | g.51915478G>A | CA480063298 | ACVRL1 | c.756G>A (p.Leu252=) c.1026G>A (p.Leu342=) c.504G>A (p.Leu168=) c.1068G>A (p.Leu356=) c.31G>A c.237G>A (p.Leu79=) | |
12 | g.51915478G>C | CA480063297 | ACVRL1 | c.756G>C (p.Leu252=) c.1026G>C (p.Leu342=) c.504G>C (p.Leu168=) c.1068G>C (p.Leu356=) c.31G>C c.237G>C (p.Leu79=) | |
12 | g.51915478G>T | CA480063296 | ACVRL1 | c.756G>T (p.Leu252=) c.1026G>T (p.Leu342=) c.504G>T (p.Leu168=) c.1068G>T (p.Leu356=) c.31G>T c.237G>T (p.Leu79=) | |
12 | g.51915482_51915518del | CA916081669 | ACVRL1 | c.760_778+18del c.1030_1048+18del c.508_526+18del c.1072_1090+18del c.35_53+18del c.241_259+18del | ClinVar dbSNP |
12 | g.51915479C>A | CA384901714 | ACVRL1 | c.757C>A (p.Gln253Lys) c.1027C>A (p.Gln343Lys) c.505C>A (p.Gln169Lys) c.1069C>A (p.Gln357Lys) c.32C>A c.238C>A (p.Gln80Lys) | |
12 | g.51915479C= | CA2036269553 | ACVRL1 | c.757C= (p.Gln253=) c.1027C= (p.Gln343=) c.505C= (p.Gln169=) c.1069C= (p.Gln357=) c.32C= c.238C= (p.Gln80=) | |
12 | g.51915479C>G | CA384901718 | ACVRL1 | c.757C>G (p.Gln253Glu) c.1027C>G (p.Gln343Glu) c.505C>G (p.Gln169Glu) c.1069C>G (p.Gln357Glu) c.32C>G c.238C>G (p.Gln80Glu) | gnomAD v4 |
12 | g.51915479C>T | CA16619570 | ACVRL1 | c.757C>T (p.Gln253Ter) c.1027C>T (p.Gln343Ter) c.505C>T (p.Gln169Ter) c.1069C>T (p.Gln357Ter) c.32C>T c.238C>T (p.Gln80Ter) | ClinVar dbSNP |
12 | g.51915480A= | CA2036269554 | ACVRL1 | c.758A= (p.Gln253=) c.1028A= (p.Gln343=) c.506A= (p.Gln169=) c.1070A= (p.Gln357=) c.33A= c.239A= (p.Gln80=) | |
12 | g.51915480A>C | CA384901720 | ACVRL1 | c.758A>C (p.Gln253Pro) c.1028A>C (p.Gln343Pro) c.506A>C (p.Gln169Pro) c.1070A>C (p.Gln357Pro) c.33A>C c.239A>C (p.Gln80Pro) | ClinVar dbSNP |
12 | g.51915480A>G | CA384901721 | ACVRL1 | c.758A>G (p.Gln253Arg) c.1028A>G (p.Gln343Arg) c.506A>G (p.Gln169Arg) c.1070A>G (p.Gln357Arg) c.33A>G c.239A>G (p.Gln80Arg) | gnomAD v4 |
12 | g.51915480A>T | CA384901722 | ACVRL1 | c.758A>T (p.Gln253Leu) c.1028A>T (p.Gln343Leu) c.506A>T (p.Gln169Leu) c.1070A>T (p.Gln357Leu) c.33A>T c.239A>T (p.Gln80Leu) | |
12 | g.51915481G>A | CA480063299 | ACVRL1 | c.759G>A (p.Gln253=) c.1029G>A (p.Gln343=) c.507G>A (p.Gln169=) c.1071G>A (p.Gln357=) c.34G>A c.240G>A (p.Gln80=) | dbSNP gnomAD v2 |
12 | g.51915481G>C | CA384901724 | ACVRL1 | c.759G>C (p.Gln253His) c.1029G>C (p.Gln343His) c.507G>C (p.Gln169His) c.1071G>C (p.Gln357His) c.34G>C c.240G>C (p.Gln80His) | |
12 | g.51915481G= | CA2036236209 | ACVRL1 | c.759G= (p.Gln253=) c.1029G= (p.Gln343=) c.507G= (p.Gln169=) c.1071G= (p.Gln357=) c.34G= c.240G= (p.Gln80=) | |
12 | g.51915481G>T | CA384901725 | ACVRL1 | c.759G>T (p.Gln253His) c.1029G>T (p.Gln343His) c.507G>T (p.Gln169His) c.1071G>T (p.Gln357His) c.34G>T c.240G>T (p.Gln80His) | |
12 | g.51915483_51915484dup | CA323690 | ACVRL1 | c.761_762dup (p.Cys255ValfsTer10) c.1031_1032dup (p.Cys345ValfsTer10) c.509_510dup (p.Cys171ValfsTer10) c.1073_1074dup (p.Cys359ValfsTer10) c.36_37dup c.242_243dup (p.Cys82ValfsTer10) | ClinVar dbSNP |
12 | g.51915482T>A | CA384901733 | ACVRL1 | c.760T>A (p.Cys254Ser) c.1030T>A (p.Cys344Ser) c.508T>A (p.Cys170Ser) c.1072T>A (p.Cys358Ser) c.35T>A c.241T>A (p.Cys81Ser) | |
12 | g.51915482T>C | CA384901730 | ACVRL1 | c.760T>C (p.Cys254Arg) c.1030T>C (p.Cys344Arg) c.508T>C (p.Cys170Arg) c.1072T>C (p.Cys358Arg) c.35T>C c.241T>C (p.Cys81Arg) | ClinVar dbSNP |
12 | g.51915482T>G | CA384901736 | ACVRL1 | c.760T>G (p.Cys254Gly) c.1030T>G (p.Cys344Gly) c.508T>G (p.Cys170Gly) c.1072T>G (p.Cys358Gly) c.35T>G c.241T>G (p.Cys81Gly) | |
12 | g.51915482T= | CA2036236221 | ACVRL1 | c.760T= (p.Cys254=) c.1030T= (p.Cys344=) c.508T= (p.Cys170=) c.1072T= (p.Cys358=) c.35T= c.241T= (p.Cys81=) | |
12 | g.51915483G>A | CA119408 | ACVRL1 | c.761G>A (p.Cys254Tyr) c.1031G>A (p.Cys344Tyr) c.509G>A (p.Cys170Tyr) c.1073G>A (p.Cys358Tyr) c.36G>A c.242G>A (p.Cys81Tyr) | ClinVar dbSNP gnomAD v4 |
12 | g.51915483G>C | CA384901739 | ACVRL1 | c.761G>C (p.Cys254Ser) c.1031G>C (p.Cys344Ser) c.509G>C (p.Cys170Ser) c.1073G>C (p.Cys358Ser) c.36G>C c.242G>C (p.Cys81Ser) | |
12 | g.51915483G= | CA2036236234 | ACVRL1 | c.761G= (p.Cys254=) c.1031G= (p.Cys344=) c.509G= (p.Cys170=) c.1073G= (p.Cys358=) c.36G= c.242G= (p.Cys81=) | |
12 | g.51915483G>T | CA384901742 | ACVRL1 | c.761G>T (p.Cys254Phe) c.1031G>T (p.Cys344Phe) c.509G>T (p.Cys170Phe) c.1073G>T (p.Cys358Phe) c.36G>T c.242G>T (p.Cys81Phe) | ClinVar dbSNP |
12 | g.51915484T>A | CA384901744 | ACVRL1 | c.762T>A (p.Cys254Ter) c.1032T>A (p.Cys344Ter) c.510T>A (p.Cys170Ter) c.1074T>A (p.Cys358Ter) c.37T>A c.243T>A (p.Cys81Ter) | ClinVar dbSNP |
12 | g.51915484T>C | CA6573036 | ACVRL1 | c.762T>C (p.Cys254=) c.1032T>C (p.Cys344=) c.510T>C (p.Cys170=) c.1074T>C (p.Cys358=) c.37T>C c.243T>C (p.Cys81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51915484T>G | CA384901745 | ACVRL1 | c.762T>G (p.Cys254Trp) c.1032T>G (p.Cys344Trp) c.510T>G (p.Cys170Trp) c.1074T>G (p.Cys358Trp) c.37T>G c.243T>G (p.Cys81Trp) | |
12 | g.51915484T= | CA2036236238 | ACVRL1 | c.762T= (p.Cys254=) c.1032T= (p.Cys344=) c.510T= (p.Cys170=) c.1074T= (p.Cys358=) c.37T= c.243T= (p.Cys81=) | |
12 | g.51915485T>A | CA384901748 | ACVRL1 | c.763T>A (p.Cys255Ser) c.1033T>A (p.Cys345Ser) c.511T>A (p.Cys171Ser) c.1075T>A (p.Cys359Ser) c.38T>A c.244T>A (p.Cys82Ser) | |
12 | g.51915485T>C | CA16613827 | ACVRL1 | c.763T>C (p.Cys255Arg) c.1033T>C (p.Cys345Arg) c.511T>C (p.Cys171Arg) c.1075T>C (p.Cys359Arg) c.38T>C c.244T>C (p.Cys82Arg) | ClinVar dbSNP |
12 | g.51915485T>G | CA384901746 | ACVRL1 | c.763T>G (p.Cys255Gly) c.1033T>G (p.Cys345Gly) c.511T>G (p.Cys171Gly) c.1075T>G (p.Cys359Gly) c.38T>G c.244T>G (p.Cys82Gly) | |
12 | g.51915485T= | CA2036236244 | ACVRL1 | c.763T= (p.Cys255=) c.1033T= (p.Cys345=) c.511T= (p.Cys171=) c.1075T= (p.Cys359=) c.38T= c.244T= (p.Cys82=) | |
12 | g.51915485_51915490delinsTGCATC | CA2036236246 | ACVRL1 | c.763_768delinsTGCATC (p.Cys255=) c.1033_1038delinsTGCATC (p.Cys345=) c.511_516delinsTGCATC (p.Cys171=) c.1075_1080delinsTGCATC (p.Cys359=) c.38_43delinsTGCATC c.244_249delinsTGCATC (p.Cys82=) | |
12 | g.51915486G>A | CA384901750 | ACVRL1 | c.764G>A (p.Cys255Tyr) c.1034G>A (p.Cys345Tyr) c.512G>A (p.Cys171Tyr) c.1076G>A (p.Cys359Tyr) c.39G>A c.245G>A (p.Cys82Tyr) | ClinVar dbSNP gnomAD v4 |
12 | g.51915486G>C | CA384901756 | ACVRL1 | c.764G>C (p.Cys255Ser) c.1034G>C (p.Cys345Ser) c.512G>C (p.Cys171Ser) c.1076G>C (p.Cys359Ser) c.39G>C c.245G>C (p.Cys82Ser) | gnomAD v4 |
12 | g.51915486G= | CA2036236247 | ACVRL1 | c.764G= (p.Cys255=) c.1034G= (p.Cys345=) c.512G= (p.Cys171=) c.1076G= (p.Cys359=) c.39G= c.245G= (p.Cys82=) | |
12 | g.51915486G>T | CA384901758 | ACVRL1 | c.764G>T (p.Cys255Phe) c.1034G>T (p.Cys345Phe) c.512G>T (p.Cys171Phe) c.1076G>T (p.Cys359Phe) c.39G>T c.245G>T (p.Cys82Phe) | |
12 | g.51915488_51915492del | CA891843495 | ACVRL1 | c.766_770del (p.Ile256ArgfsTer?) c.1036_1040del (p.Ile346ArgfsTer?) c.514_518del (p.Ile172ArgfsTer?) c.1078_1082del (p.Ile360ArgfsTer?) c.41_45del c.247_251del (p.Ile83ArgfsTer?) | ClinVar dbSNP |
12 | g.51915487C>A | CA384901766 | ACVRL1 | c.765C>A (p.Cys255Ter) c.1035C>A (p.Cys345Ter) c.513C>A (p.Cys171Ter) c.1077C>A (p.Cys359Ter) c.40C>A c.246C>A (p.Cys82Ter) | ClinVar |
12 | g.51915487C>G | CA384901770 | ACVRL1 | c.765C>G (p.Cys255Trp) c.1035C>G (p.Cys345Trp) c.513C>G (p.Cys171Trp) c.1077C>G (p.Cys359Trp) c.40C>G c.246C>G (p.Cys82Trp) | |
12 | g.51915487C>T | CA480063300 | ACVRL1 | c.765C>T (p.Cys255=) c.1035C>T (p.Cys345=) c.513C>T (p.Cys171=) c.1077C>T (p.Cys359=) c.40C>T c.246C>T (p.Cys82=) | gnomAD v4 |
12 | g.51915488_51915507dup | CA689766504 | ACVRL1 | c.766_778+7dup c.1036_1048+7dup c.514_526+7dup c.1078_1090+7dup c.41_53+7dup c.247_259+7dup | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51915488A>C | CA384901773 | ACVRL1 | c.766A>C (p.Ile256Leu) c.1036A>C (p.Ile346Leu) c.514A>C (p.Ile172Leu) c.1078A>C (p.Ile360Leu) c.41A>C c.247A>C (p.Ile83Leu) | gnomAD v4 |
12 | g.51915488A>G | CA384901779 | ACVRL1 | c.766A>G (p.Ile256Val) c.1036A>G (p.Ile346Val) c.514A>G (p.Ile172Val) c.1078A>G (p.Ile360Val) c.41A>G c.247A>G (p.Ile83Val) | COSMIC COSMIC |
12 | g.51915488A>T | CA384901776 | ACVRL1 | c.766A>T (p.Ile256Phe) c.1036A>T (p.Ile346Phe) c.514A>T (p.Ile172Phe) c.1078A>T (p.Ile360Phe) c.41A>T c.247A>T (p.Ile83Phe) | ClinVar |
12 | g.51915488_51915491delinsATCG | CA2036236254 | ACVRL1 | c.766_769delinsATCG (p.Ile256=) c.1036_1039delinsATCG (p.Ile346=) c.514_517delinsATCG (p.Ile172=) c.1078_1081delinsATCG (p.Ile360=) c.41_44delinsATCG c.247_250delinsATCG (p.Ile83=) | |
12 | g.51915489T>A | CA384901783 | ACVRL1 | c.767T>A (p.Ile256Asn) c.1037T>A (p.Ile346Asn) c.515T>A (p.Ile172Asn) c.1079T>A (p.Ile360Asn) c.42T>A c.248T>A (p.Ile83Asn) | |
12 | g.51915489T>C | CA384901786 | ACVRL1 | c.767T>C (p.Ile256Thr) c.1037T>C (p.Ile346Thr) c.515T>C (p.Ile172Thr) c.1079T>C (p.Ile360Thr) c.42T>C c.248T>C (p.Ile83Thr) | |
12 | g.51915489T>G | CA384901790 | ACVRL1 | c.767T>G (p.Ile256Ser) c.1037T>G (p.Ile346Ser) c.515T>G (p.Ile172Ser) c.1079T>G (p.Ile360Ser) c.42T>G c.248T>G (p.Ile83Ser) | ClinVar |
12 | g.51915489_51915491del | CA1139662703 | ACVRL1 | c.767_769del (p.Ile256_Ala257delinsThr) c.1037_1039del (p.Ile346_Ala347delinsThr) c.515_517del (p.Ile172_Ala173delinsThr) c.1079_1081del (p.Ile360_Ala361delinsThr) c.42_44del c.248_250del (p.Ile83_Ala84delinsThr) | ClinVar dbSNP |
12 | g.51915490C>A | CA480063301 | ACVRL1 | c.768C>A (p.Ile256=) c.1038C>A (p.Ile346=) c.516C>A (p.Ile172=) c.1080C>A (p.Ile360=) c.43C>A c.249C>A (p.Ile83=) | gnomAD v4 |
12 | g.51915490C>G | CA384901793 | ACVRL1 | c.768C>G (p.Ile256Met) c.1038C>G (p.Ile346Met) c.516C>G (p.Ile172Met) c.1080C>G (p.Ile360Met) c.43C>G c.249C>G (p.Ile83Met) | ClinVar |
12 | g.51915490C>T | CA480063302 | ACVRL1 | c.768C>T (p.Ile256=) c.1038C>T (p.Ile346=) c.516C>T (p.Ile172=) c.1080C>T (p.Ile360=) c.43C>T c.249C>T (p.Ile83=) | |
12 | g.51915492_51915494dup | CA2697554496 | ACVRL1 | c.770_772dup (p.Ala257_Asp258insAla) c.1040_1042dup (p.Ala347_Asp348insAla) c.518_520dup (p.Ala173_Asp174insAla) c.1082_1084dup (p.Ala361_Asp362insAla) c.45_47dup c.251_253dup (p.Ala84_Asp85insAla) | ClinVar |
12 | g.51915492_51915494del | CA2695216753 | ACVRL1 | c.770_772del (p.Ala257del) c.1040_1042del (p.Ala347del) c.518_520del (p.Ala173del) c.1082_1084del (p.Ala361del) c.45_47del c.251_253del (p.Ala84del) | |
12 | g.51915491G>A | CA384901807 | ACVRL1 | c.769G>A (p.Ala257Thr) c.1039G>A (p.Ala347Thr) c.517G>A (p.Ala173Thr) c.1081G>A (p.Ala361Thr) c.44G>A c.250G>A (p.Ala84Thr) | |
12 | g.51915491G>C | CA384901809 | ACVRL1 | c.769G>C (p.Ala257Pro) c.1039G>C (p.Ala347Pro) c.517G>C (p.Ala173Pro) c.1081G>C (p.Ala361Pro) c.44G>C c.250G>C (p.Ala84Pro) | ClinVar |
12 | g.51915491G>T | CA384901815 | ACVRL1 | c.769G>T (p.Ala257Ser) c.1039G>T (p.Ala347Ser) c.517G>T (p.Ala173Ser) c.1081G>T (p.Ala361Ser) c.44G>T c.250G>T (p.Ala84Ser) | |
12 | g.51915491_51915492delinsGC | CA2036236260 | ACVRL1 | c.769_770delinsGC (p.Ala257=) c.1039_1040delinsGC (p.Ala347=) c.517_518delinsGC (p.Ala173=) c.1081_1082delinsGC (p.Ala361=) c.44_45delinsGC c.250_251delinsGC (p.Ala84=) | |
12 | g.51915492C>A | CA384901818 | ACVRL1 | c.770C>A (p.Ala257Asp) c.1040C>A (p.Ala347Asp) c.518C>A (p.Ala173Asp) c.1082C>A (p.Ala361Asp) c.45C>A c.251C>A (p.Ala84Asp) | |
12 | g.51915492C>G | CA384901819 | ACVRL1 | c.770C>G (p.Ala257Gly) c.1040C>G (p.Ala347Gly) c.518C>G (p.Ala173Gly) c.1082C>G (p.Ala361Gly) c.45C>G c.251C>G (p.Ala84Gly) | |
12 | g.51915492C>T | CA384901821 | ACVRL1 | c.770C>T (p.Ala257Val) c.1040C>T (p.Ala347Val) c.518C>T (p.Ala173Val) c.1082C>T (p.Ala361Val) c.45C>T c.251C>T (p.Ala84Val) | |
12 | g.51915493del | CA1139662704 | ACVRL1 | c.771del (p.Asp258ThrfsTer6) c.1041del (p.Asp348ThrfsTer6) c.519del (p.Asp174ThrfsTer6) c.1083del (p.Asp362ThrfsTer6) c.46del c.252del (p.Asp85ThrfsTer6) | ClinVar dbSNP |
12 | g.51915493C>A | CA480063303 | ACVRL1 | c.771C>A (p.Ala257=) c.1041C>A (p.Ala347=) c.519C>A (p.Ala173=) c.1083C>A (p.Ala361=) c.46C>A c.252C>A (p.Ala84=) | gnomAD v4 |
12 | g.51915493C= | CA2036236273 | ACVRL1 | c.771C= (p.Ala257=) c.1041C= (p.Ala347=) c.519C= (p.Ala173=) c.1083C= (p.Ala361=) c.46C= c.252C= (p.Ala84=) | |
12 | g.51915493C>G | CA6573037 | ACVRL1 | c.771C>G (p.Ala257=) c.1041C>G (p.Ala347=) c.519C>G (p.Ala173=) c.1083C>G (p.Ala361=) c.46C>G c.252C>G (p.Ala84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915493C>T | CA6573038 | ACVRL1 | c.771C>T (p.Ala257=) c.1041C>T (p.Ala347=) c.519C>T (p.Ala173=) c.1083C>T (p.Ala361=) c.46C>T c.252C>T (p.Ala84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915493_51915494delinsCG | CA2036236276 | ACVRL1 | c.771_772delinsCG (p.Ala257=) c.1041_1042delinsCG (p.Ala347=) c.519_520delinsCG (p.Ala173=) c.1083_1084delinsCG (p.Ala361=) c.46_47delinsCG c.252_253delinsCG (p.Ala84=) | |
12 | g.51915494del | CA891843496 | ACVRL1 | c.772del (p.Asp258ThrfsTer6) c.1042del (p.Asp348ThrfsTer6) c.520del (p.Asp174ThrfsTer6) c.1084del (p.Asp362ThrfsTer6) c.47del c.253del (p.Asp85ThrfsTer6) | ClinVar dbSNP |
12 | g.51915494G>A | CA384901834 | ACVRL1 | c.772G>A (p.Asp258Asn) c.1042G>A (p.Asp348Asn) c.520G>A (p.Asp174Asn) c.1084G>A (p.Asp362Asn) c.47G>A c.253G>A (p.Asp85Asn) | ClinVar |
12 | g.51915494G>C | CA384901838 | ACVRL1 | c.772G>C (p.Asp258His) c.1042G>C (p.Asp348His) c.520G>C (p.Asp174His) c.1084G>C (p.Asp362His) c.47G>C c.253G>C (p.Asp85His) | ClinVar |
12 | g.51915494G= | CA2036236280 | ACVRL1 | c.772G= (p.Asp258=) c.1042G= (p.Asp348=) c.520G= (p.Asp174=) c.1084G= (p.Asp362=) c.47G= c.253G= (p.Asp85=) | |
12 | g.51915494G>T | CA384901836 | ACVRL1 | c.772G>T (p.Asp258Tyr) c.1042G>T (p.Asp348Tyr) c.520G>T (p.Asp174Tyr) c.1084G>T (p.Asp362Tyr) c.47G>T c.253G>T (p.Asp85Tyr) | ClinVar dbSNP |
12 | g.51915495_51915501dup | CA1139662705 | ACVRL1 | c.773_778+1dup c.1043_1048+1dup c.521_526+1dup c.1085_1090+1dup c.48_53+1dup c.254_259+1dup | ClinVar dbSNP |
12 | g.51915496_51915504dup | CA2580086489 | ACVRL1 | c.774_778+4dup c.1044_1048+4dup c.522_526+4dup c.1086_1090+4dup c.49_53+4dup c.255_259+4dup | ClinVar |
12 | g.51915495A>C | CA384901839 | ACVRL1 | c.773A>C (p.Asp258Ala) c.1043A>C (p.Asp348Ala) c.521A>C (p.Asp174Ala) c.1085A>C (p.Asp362Ala) c.48A>C c.254A>C (p.Asp85Ala) | |
12 | g.51915495A>G | CA384901842 | ACVRL1 | c.773A>G (p.Asp258Gly) c.1043A>G (p.Asp348Gly) c.521A>G (p.Asp174Gly) c.1085A>G (p.Asp362Gly) c.48A>G c.254A>G (p.Asp85Gly) | |
12 | g.51915495A>T | CA384901845 | ACVRL1 | c.773A>T (p.Asp258Val) c.1043A>T (p.Asp348Val) c.521A>T (p.Asp174Val) c.1085A>T (p.Asp362Val) c.48A>T c.254A>T (p.Asp85Val) | |
12 | g.51915496C>A | CA384901849 | ACVRL1 | c.774C>A (p.Asp258Glu) c.1044C>A (p.Asp348Glu) c.522C>A (p.Asp174Glu) c.1086C>A (p.Asp362Glu) c.49C>A c.255C>A (p.Asp85Glu) | |
12 | g.51915496C>G | CA384901850 | ACVRL1 | c.774C>G (p.Asp258Glu) c.1044C>G (p.Asp348Glu) c.522C>G (p.Asp174Glu) c.1086C>G (p.Asp362Glu) c.49C>G c.255C>G (p.Asp85Glu) | ClinVar |
12 | g.51915496C>T | CA480063304 | ACVRL1 | c.774C>T (p.Asp258=) c.1044C>T (p.Asp348=) c.522C>T (p.Asp174=) c.1086C>T (p.Asp362=) c.49C>T c.255C>T (p.Asp85=) | |
12 | g.51915497C>A | CA384901856 | ACVRL1 | c.775C>A (p.Leu259Met) c.1045C>A (p.Leu349Met) c.523C>A (p.Leu175Met) c.1087C>A (p.Leu363Met) c.50C>A c.256C>A (p.Leu86Met) | |
12 | g.51915497C>G | CA384901858 | ACVRL1 | c.775C>G (p.Leu259Val) c.1045C>G (p.Leu349Val) c.523C>G (p.Leu175Val) c.1087C>G (p.Leu363Val) c.50C>G c.256C>G (p.Leu86Val) | |
12 | g.51915497C>T | CA480063305 | ACVRL1 | c.775C>T (p.Leu259=) c.1045C>T (p.Leu349=) c.523C>T (p.Leu175=) c.1087C>T (p.Leu363=) c.50C>T c.256C>T (p.Leu86=) | |
12 | g.51915498T>A | CA384901860 | ACVRL1 | c.776T>A (p.Leu259Gln) c.1046T>A (p.Leu349Gln) c.524T>A (p.Leu175Gln) c.1088T>A (p.Leu363Gln) c.51T>A c.257T>A (p.Leu86Gln) | |
12 | g.51915498T>C | CA6573039 | ACVRL1 | c.776T>C (p.Leu259Pro) c.1046T>C (p.Leu349Pro) c.524T>C (p.Leu175Pro) c.1088T>C (p.Leu363Pro) c.51T>C c.257T>C (p.Leu86Pro) | ClinVar dbSNP ExAC gnomAD v2 COSMIC COSMIC |
12 | g.51915498T>G | CA384901862 | ACVRL1 | c.776T>G (p.Leu259Arg) c.1046T>G (p.Leu349Arg) c.524T>G (p.Leu175Arg) c.1088T>G (p.Leu363Arg) c.51T>G c.257T>G (p.Leu86Arg) | ClinVar dbSNP |
12 | g.51915498T= | CA2036236285 | ACVRL1 | c.776T= (p.Leu259=) c.1046T= (p.Leu349=) c.524T= (p.Leu175=) c.1088T= (p.Leu363=) c.51T= c.257T= (p.Leu86=) | |
12 | g.51915499G>A | CA480063306 | ACVRL1 | c.777G>A (p.Leu259=) c.1047G>A (p.Leu349=) c.525G>A (p.Leu175=) c.1089G>A (p.Leu363=) c.52G>A c.258G>A (p.Leu86=) | |
12 | g.51915499G>C | CA480063308 | ACVRL1 | c.777G>C (p.Leu259=) c.1047G>C (p.Leu349=) c.525G>C (p.Leu175=) c.1089G>C (p.Leu363=) c.52G>C c.258G>C (p.Leu86=) | |
12 | g.51915499G>T | CA480063307 | ACVRL1 | c.777G>T (p.Leu259=) c.1047G>T (p.Leu349=) c.525G>T (p.Leu175=) c.1089G>T (p.Leu363=) c.52G>T c.258G>T (p.Leu86=) | |
12 | g.51915500G>A | CA384901863 | ACVRL1 | c.778G>A (p.Gly260Ser) c.1048G>A (p.Gly350Ser) c.526G>A (p.Gly176Ser) c.1090G>A (p.Gly364Ser) c.53G>A c.259G>A (p.Gly87Ser) | ClinVar COSMIC COSMIC |
12 | g.51915500G>C | CA384901864 | ACVRL1 | c.778G>C (p.Gly260Arg) c.1048G>C (p.Gly350Arg) c.526G>C (p.Gly176Arg) c.1090G>C (p.Gly364Arg) c.53G>C c.259G>C (p.Gly87Arg) | ClinVar dbSNP |
12 | g.51915500G= | CA2036236290 | ACVRL1 | c.778G= (p.Gly260=) c.1048G= (p.Gly350=) c.526G= (p.Gly176=) c.1090G= (p.Gly364=) c.53G= c.259G= (p.Gly87=) | |
12 | g.51915500G>T | CA384901866 | ACVRL1 | c.778G>T (p.Gly260Cys) c.1048G>T (p.Gly350Cys) c.526G>T (p.Gly176Cys) c.1090G>T (p.Gly364Cys) c.53G>T c.259G>T (p.Gly87Cys) | |
12 | g.51915501G>A | CA384901874 | ACVRL1 | c.778+1G>A (n.778+1G>A) c.1048+1G>A (n.1048+1G>A) c.526+1G>A (n.526+1G>A) c.1090+1G>A (n.1090+1G>A) c.53+1G>A c.259+1G>A (n.259+1G>A) | ClinVar dbSNP |
12 | g.51915501G>C | CA384901868 | ACVRL1 | c.778+1G>C (n.778+1G>C) c.1048+1G>C (n.1048+1G>C) c.526+1G>C (n.526+1G>C) c.1090+1G>C (n.1090+1G>C) c.53+1G>C c.259+1G>C (n.259+1G>C) | |
12 | g.51915501G>T | CA384901870 | ACVRL1 | c.778+1G>T (n.778+1G>T) c.1048+1G>T (n.1048+1G>T) c.526+1G>T (n.526+1G>T) c.1090+1G>T (n.1090+1G>T) c.53+1G>T c.259+1G>T (n.259+1G>T) | ClinVar |
12 | g.51915502T>A | CA384901877 | ACVRL1 | c.778+2T>A (n.778+2T>A) c.1048+2T>A (n.1048+2T>A) c.526+2T>A (n.526+2T>A) c.1090+2T>A (n.1090+2T>A) c.53+2T>A c.259+2T>A (n.259+2T>A) | |
12 | g.51915502T>C | CA384901880 | ACVRL1 | c.778+2T>C (n.778+2T>C) c.1048+2T>C (n.1048+2T>C) c.526+2T>C (n.526+2T>C) c.1090+2T>C (n.1090+2T>C) c.53+2T>C c.259+2T>C (n.259+2T>C) | ClinVar |
12 | g.51915502T>G | CA384901886 | ACVRL1 | c.778+2T>G (n.778+2T>G) c.1048+2T>G (n.1048+2T>G) c.526+2T>G (n.526+2T>G) c.1090+2T>G (n.1090+2T>G) c.53+2T>G c.259+2T>G (n.259+2T>G) | ClinVar dbSNP |
12 | g.51915502T= | CA2036236295 | ACVRL1 | c.778+2T= (n.778+2T=) c.1048+2T= (n.1048+2T=) c.526+2T= (n.526+2T=) c.1090+2T= (n.1090+2T=) c.53+2T= c.259+2T= (n.259+2T=) | |
12 | g.51915503G>A | CA605238844 | ACVRL1 | c.778+3G>A (n.778+3G>A) c.1048+3G>A (n.1048+3G>A) c.526+3G>A (n.526+3G>A) c.1090+3G>A (n.1090+3G>A) c.53+3G>A c.259+3G>A (n.259+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915503G= | CA2036236297 | ACVRL1 | c.778+3G= (n.778+3G=) c.1048+3G= (n.1048+3G=) c.526+3G= (n.526+3G=) c.1090+3G= (n.1090+3G=) c.53+3G= c.259+3G= (n.259+3G=) | |
12 | g.51915503G>T | CA2618858041 | ACVRL1 | c.778+3G>T (n.778+3G>T) c.1048+3G>T (n.1048+3G>T) c.526+3G>T (n.526+3G>T) c.1090+3G>T (n.1090+3G>T) c.53+3G>T c.259+3G>T (n.259+3G>T) | gnomAD v4 |
12 | g.51915503_51915504delinsGA | CA2036236301 | ACVRL1 | c.778+3_778+4delinsGA (n.778+3_778+4delinsGA) c.1048+3_1048+4delinsGA (n.1048+3_1048+4delinsGA) c.526+3_526+4delinsGA (n.526+3_526+4delinsGA) c.1090+3_1090+4delinsGA (n.1090+3_1090+4delinsGA) c.53+3_53+4delinsGA c.259+3_259+4delinsGA (n.259+3_259+4delinsGA) | |
12 | g.51915503_51915504delinsTT | CA2036236303 | ACVRL1 | c.778+3_778+4delinsTT (n.778+3_778+4delinsTT) c.1048+3_1048+4delinsTT (n.1048+3_1048+4delinsTT) c.526+3_526+4delinsTT (n.526+3_526+4delinsTT) c.1090+3_1090+4delinsTT (n.1090+3_1090+4delinsTT) c.53+3_53+4delinsTT c.259+3_259+4delinsTT (n.259+3_259+4delinsTT) | ClinVar dbSNP |
12 | g.51915505G>A | CA2580086492 | ACVRL1 | c.778+5G>A (n.778+5G>A) c.1048+5G>A (n.1048+5G>A) c.526+5G>A (n.526+5G>A) c.1090+5G>A (n.1090+5G>A) c.53+5G>A c.259+5G>A (n.259+5G>A) | ClinVar |
12 | g.51915505G>T | CA2580086493 | ACVRL1 | c.778+5G>T (n.778+5G>T) c.1048+5G>T (n.1048+5G>T) c.526+5G>T (n.526+5G>T) c.1090+5G>T (n.1090+5G>T) c.53+5G>T c.259+5G>T (n.259+5G>T) | ClinVar gnomAD v4 |
12 | g.51915505_51915506insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC | CA2795983091 | ACVRL1 | c.778+5_778+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC (n.778+5_778+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC) c.1048+5_1048+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC (n.1048+5_1048+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC) c.526+5_526+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC (n.526+5_526+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC) c.1090+5_1090+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC (n.1090+5_1090+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC) c.53+5_53+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC c.259+5_259+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC (n.259+5_259+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC) | |
12 | g.51915506C>A | CA2618858051 | ACVRL1 | c.778+6C>A (n.778+6C>A) c.1048+6C>A (n.1048+6C>A) c.526+6C>A (n.526+6C>A) c.1090+6C>A (n.1090+6C>A) c.53+6C>A c.259+6C>A (n.259+6C>A) | gnomAD v4 |
12 | g.51915506C>T | CA2618858056 | ACVRL1 | c.778+6C>T (n.778+6C>T) c.1048+6C>T (n.1048+6C>T) c.526+6C>T (n.526+6C>T) c.1090+6C>T (n.1090+6C>T) c.53+6C>T c.259+6C>T (n.259+6C>T) | gnomAD v4 |
12 | g.51915507C= | CA2036236305 | ACVRL1 | c.778+7C= (n.778+7C=) c.1048+7C= (n.1048+7C=) c.526+7C= (n.526+7C=) c.1090+7C= (n.1090+7C=) c.53+7C= c.259+7C= (n.259+7C=) | |
12 | g.51915507C>T | CA2036236306 | ACVRL1 | c.778+7C>T (n.778+7C>T) c.1048+7C>T (n.1048+7C>T) c.526+7C>T (n.526+7C>T) c.1090+7C>T (n.1090+7C>T) c.53+7C>T c.259+7C>T (n.259+7C>T) | ClinVar dbSNP gnomAD v4 |
12 | g.51915508G>A | CA2580086494 | ACVRL1 | c.778+8G>A (n.778+8G>A) c.1048+8G>A (n.1048+8G>A) c.526+8G>A (n.526+8G>A) c.1090+8G>A (n.1090+8G>A) c.53+8G>A c.259+8G>A (n.259+8G>A) | ClinVar |
12 | g.51915508G= | CA2036236307 | ACVRL1 | c.778+8G= (n.778+8G=) c.1048+8G= (n.1048+8G=) c.526+8G= (n.526+8G=) c.1090+8G= (n.1090+8G=) c.53+8G= c.259+8G= (n.259+8G=) | |
12 | g.51915508G>T | CA947666404 | ACVRL1 | c.778+8G>T (n.778+8G>T) c.1048+8G>T (n.1048+8G>T) c.526+8G>T (n.526+8G>T) c.1090+8G>T (n.1090+8G>T) c.53+8G>T c.259+8G>T (n.259+8G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51915510del | CA2618858059 | ACVRL1 | c.778+10del (n.778+10del) c.1048+10del (n.1048+10del) c.526+10del (n.526+10del) c.1090+10del (n.1090+10del) c.53+10del c.259+10del (n.259+10del) | gnomAD v4 |
12 | g.51915512_51915516dup | CA2575161493 | ACVRL1 | c.778+12_778+16dup (n.778+12_778+16dup) c.1048+12_1048+16dup (n.1048+12_1048+16dup) c.526+12_526+16dup (n.526+12_526+16dup) c.1090+12_1090+16dup (n.1090+12_1090+16dup) c.53+12_53+16dup c.259+12_259+16dup (n.259+12_259+16dup) | |
12 | g.51915509G>A | CA2618858070 | ACVRL1 | c.778+9G>A (n.778+9G>A) c.1048+9G>A (n.1048+9G>A) c.526+9G>A (n.526+9G>A) c.1090+9G>A (n.1090+9G>A) c.53+9G>A c.259+9G>A (n.259+9G>A) | gnomAD v4 |
12 | g.51915510G>A | CA2618858073 | ACVRL1 | c.778+10G>A (n.778+10G>A) c.1048+10G>A (n.1048+10G>A) c.526+10G>A (n.526+10G>A) c.1090+10G>A (n.1090+10G>A) c.53+10G>A c.259+10G>A (n.259+10G>A) | gnomAD v4 |
12 | g.51915510G>T | CA2618858076 | ACVRL1 | c.778+10G>T (n.778+10G>T) c.1048+10G>T (n.1048+10G>T) c.526+10G>T (n.526+10G>T) c.1090+10G>T (n.1090+10G>T) c.53+10G>T c.259+10G>T (n.259+10G>T) | gnomAD v4 |
12 | g.51915511C>A | CA6573041 | ACVRL1 | c.778+11C>A (n.778+11C>A) c.1048+11C>A (n.1048+11C>A) c.526+11C>A (n.526+11C>A) c.1090+11C>A (n.1090+11C>A) c.53+11C>A c.259+11C>A (n.259+11C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51915511C= | CA2036236310 | ACVRL1 | c.778+11C= (n.778+11C=) c.1048+11C= (n.1048+11C=) c.526+11C= (n.526+11C=) c.1090+11C= (n.1090+11C=) c.53+11C= c.259+11C= (n.259+11C=) | |
12 | g.51915511C>T | CA6573040 | ACVRL1 | c.778+11C>T (n.778+11C>T) c.1048+11C>T (n.1048+11C>T) c.526+11C>T (n.526+11C>T) c.1090+11C>T (n.1090+11C>T) c.53+11C>T c.259+11C>T (n.259+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915512G>C | CA6573042 | ACVRL1 | c.778+12G>C (n.778+12G>C) c.1048+12G>C (n.1048+12G>C) c.526+12G>C (n.526+12G>C) c.1090+12G>C (n.1090+12G>C) c.53+12G>C c.259+12G>C (n.259+12G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915512G= | CA2036236311 | ACVRL1 | c.778+12G= (n.778+12G=) c.1048+12G= (n.1048+12G=) c.526+12G= (n.526+12G=) c.1090+12G= (n.1090+12G=) c.53+12G= c.259+12G= (n.259+12G=) | |
12 | g.51915512G>T | CA2505634717 | ACVRL1 | c.778+12G>T (n.778+12G>T) c.1048+12G>T (n.1048+12G>T) c.526+12G>T (n.526+12G>T) c.1090+12G>T (n.1090+12G>T) c.53+12G>T c.259+12G>T (n.259+12G>T) | |
12 | g.51915515del | CA2618858089 | ACVRL1 | c.778+15del (n.778+15del) c.1048+15del (n.1048+15del) c.526+15del (n.526+15del) c.1090+15del (n.1090+15del) c.53+15del c.259+15del (n.259+15del) | gnomAD v4 |
12 | g.51915513G>C | CA2618858092 | ACVRL1 | c.778+13G>C (n.778+13G>C) c.1048+13G>C (n.1048+13G>C) c.526+13G>C (n.526+13G>C) c.1090+13G>C (n.1090+13G>C) c.53+13G>C c.259+13G>C (n.259+13G>C) | gnomAD v4 |
12 | g.51915514G>C | CA605052018 | ACVRL1 | c.778+14G>C (n.778+14G>C) c.1048+14G>C (n.1048+14G>C) c.526+14G>C (n.526+14G>C) c.1090+14G>C (n.1090+14G>C) c.53+14G>C c.259+14G>C (n.259+14G>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915514G= | CA2036236312 | ACVRL1 | c.778+14G= (n.778+14G=) c.1048+14G= (n.1048+14G=) c.526+14G= (n.526+14G=) c.1090+14G= (n.1090+14G=) c.53+14G= c.259+14G= (n.259+14G=) | |
12 | g.51915514G>T | CA2618858096 | ACVRL1 | c.778+14G>T (n.778+14G>T) c.1048+14G>T (n.1048+14G>T) c.526+14G>T (n.526+14G>T) c.1090+14G>T (n.1090+14G>T) c.53+14G>T c.259+14G>T (n.259+14G>T) | gnomAD v4 |
12 | g.51915515G= | CA2036236313 | ACVRL1 | c.778+15G= (n.778+15G=) c.1048+15G= (n.1048+15G=) c.526+15G= (n.526+15G=) c.1090+15G= (n.1090+15G=) c.53+15G= c.259+15G= (n.259+15G=) | |
12 | g.51915515G>T | CA2036236314 | ACVRL1 | c.778+15G>T (n.778+15G>T) c.1048+15G>T (n.1048+15G>T) c.526+15G>T (n.526+15G>T) c.1090+15G>T (n.1090+15G>T) c.53+15G>T c.259+15G>T (n.259+15G>T) | dbSNP |
12 | g.51915516C>A | CA2618858098 | ACVRL1 | c.778+16C>A (n.778+16C>A) c.1048+16C>A (n.1048+16C>A) c.526+16C>A (n.526+16C>A) c.1090+16C>A (n.1090+16C>A) c.53+16C>A c.259+16C>A (n.259+16C>A) | gnomAD v4 |
12 | g.51915516C= | CA2036236316 | ACVRL1 | c.778+16C= (n.778+16C=) c.1048+16C= (n.1048+16C=) c.526+16C= (n.526+16C=) c.1090+16C= (n.1090+16C=) c.53+16C= c.259+16C= (n.259+16C=) | |
12 | g.51915516C>T | CA2036236317 | ACVRL1 | c.778+16C>T (n.778+16C>T) c.1048+16C>T (n.1048+16C>T) c.526+16C>T (n.526+16C>T) c.1090+16C>T (n.1090+16C>T) c.53+16C>T c.259+16C>T (n.259+16C>T) | dbSNP gnomAD v4 |
12 | g.51915516_51915517delinsCA | CA2036236315 | ACVRL1 | c.778+16_778+17delinsCA (n.778+16_778+17delinsCA) c.1048+16_1048+17delinsCA (n.1048+16_1048+17delinsCA) c.526+16_526+17delinsCA (n.526+16_526+17delinsCA) c.1090+16_1090+17delinsCA (n.1090+16_1090+17delinsCA) c.53+16_53+17delinsCA c.259+16_259+17delinsCA (n.259+16_259+17delinsCA) | |
12 | g.51915517del | CA689766544 | ACVRL1 | c.778+17del (n.778+17del) c.1048+17del (n.1048+17del) c.526+17del (n.526+17del) c.1090+17del (n.1090+17del) c.53+17del c.259+17del (n.259+17del) | dbSNP |
12 | g.51915518G>A | CA2618858102 | ACVRL1 | c.778+18G>A (n.778+18G>A) c.1048+18G>A (n.1048+18G>A) c.526+18G>A (n.526+18G>A) c.1090+18G>A (n.1090+18G>A) c.53+18G>A c.259+18G>A (n.259+18G>A) | gnomAD v4 |
12 | g.51915518G>T | CA2618858103 | ACVRL1 | c.778+18G>T (n.778+18G>T) c.1048+18G>T (n.1048+18G>T) c.526+18G>T (n.526+18G>T) c.1090+18G>T (n.1090+18G>T) c.53+18G>T c.259+18G>T (n.259+18G>T) | gnomAD v4 |
12 | g.51915519G>A | CA2618858106 | ACVRL1 | c.778+19G>A (n.778+19G>A) c.1048+19G>A (n.1048+19G>A) c.526+19G>A (n.526+19G>A) c.1090+19G>A (n.1090+19G>A) c.53+19G>A c.259+19G>A (n.259+19G>A) | gnomAD v4 |
12 | g.51915519G>C | CA689766547 | ACVRL1 | c.778+19G>C (n.778+19G>C) c.1048+19G>C (n.1048+19G>C) c.526+19G>C (n.526+19G>C) c.1090+19G>C (n.1090+19G>C) c.53+19G>C c.259+19G>C (n.259+19G>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51915519G= | CA2036236318 | ACVRL1 | c.778+19G= (n.778+19G=) c.1048+19G= (n.1048+19G=) c.526+19G= (n.526+19G=) c.1090+19G= (n.1090+19G=) c.53+19G= c.259+19G= (n.259+19G=) | |
12 | g.51915519G>T | CA2618858110 | ACVRL1 | c.778+19G>T (n.778+19G>T) c.1048+19G>T (n.1048+19G>T) c.526+19G>T (n.526+19G>T) c.1090+19G>T (n.1090+19G>T) c.53+19G>T c.259+19G>T (n.259+19G>T) | gnomAD v4 |
12 | g.51915521G>T | CA2618858114 | ACVRL1 | c.778+21G>T (n.778+21G>T) c.1048+21G>T (n.1048+21G>T) c.526+21G>T (n.526+21G>T) c.1090+21G>T (n.1090+21G>T) c.53+21G>T c.259+21G>T (n.259+21G>T) | gnomAD v4 |
12 | g.51915522C>A | CA2618858118 | ACVRL1 | c.778+22C>A (n.778+22C>A) c.1048+22C>A (n.1048+22C>A) c.526+22C>A (n.526+22C>A) c.1090+22C>A (n.1090+22C>A) c.53+22C>A c.259+22C>A (n.259+22C>A) | gnomAD v4 |
12 | g.51915522C= | CA2036236319 | ACVRL1 | c.778+22C= (n.778+22C=) c.1048+22C= (n.1048+22C=) c.526+22C= (n.526+22C=) c.1090+22C= (n.1090+22C=) c.53+22C= c.259+22C= (n.259+22C=) | |
12 | g.51915522C>G | CA6573043 | ACVRL1 | c.778+22C>G (n.778+22C>G) c.1048+22C>G (n.1048+22C>G) c.526+22C>G (n.526+22C>G) c.1090+22C>G (n.1090+22C>G) c.53+22C>G c.259+22C>G (n.259+22C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51915522C>T | CA605052022 | ACVRL1 | c.778+22C>T (n.778+22C>T) c.1048+22C>T (n.1048+22C>T) c.526+22C>T (n.526+22C>T) c.1090+22C>T (n.1090+22C>T) c.53+22C>T c.259+22C>T (n.259+22C>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915523G>A | CA6573044 | ACVRL1 | c.778+23G>A (n.778+23G>A) c.1048+23G>A (n.1048+23G>A) c.526+23G>A (n.526+23G>A) c.1090+23G>A (n.1090+23G>A) c.53+23G>A c.259+23G>A (n.259+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51915523G= | CA2036236320 | ACVRL1 | c.778+23G= (n.778+23G=) c.1048+23G= (n.1048+23G=) c.526+23G= (n.526+23G=) c.1090+23G= (n.1090+23G=) c.53+23G= c.259+23G= (n.259+23G=) | |
12 | g.51915523G>T | CA2618858167 | ACVRL1 | c.778+23G>T (n.778+23G>T) c.1048+23G>T (n.1048+23G>T) c.526+23G>T (n.526+23G>T) c.1090+23G>T (n.1090+23G>T) c.53+23G>T c.259+23G>T (n.259+23G>T) | gnomAD v4 |
12 | g.51915524del | CA2726343235 | ACVRL1 | c.778+24del (n.778+24del) c.1048+24del (n.1048+24del) c.526+24del (n.526+24del) c.1090+24del (n.1090+24del) c.53+24del c.259+24del (n.259+24del) | dbSNP |
12 | g.51915524C>A | CA2618858171 | ACVRL1 | c.778+24C>A (n.778+24C>A) c.1048+24C>A (n.1048+24C>A) c.526+24C>A (n.526+24C>A) c.1090+24C>A (n.1090+24C>A) c.53+24C>A c.259+24C>A (n.259+24C>A) | gnomAD v4 |
12 | g.51915524C= | CA2036236321 | ACVRL1 | c.778+24C= (n.778+24C=) c.1048+24C= (n.1048+24C=) c.526+24C= (n.526+24C=) c.1090+24C= (n.1090+24C=) c.53+24C= c.259+24C= (n.259+24C=) | |
12 | g.51915524C>G | CA2575161494 | ACVRL1 | c.778+24C>G (n.778+24C>G) c.1048+24C>G (n.1048+24C>G) c.526+24C>G (n.526+24C>G) c.1090+24C>G (n.1090+24C>G) c.53+24C>G c.259+24C>G (n.259+24C>G) | |
12 | g.51915524C>T | CA6573045 | ACVRL1 | c.778+24C>T (n.778+24C>T) c.1048+24C>T (n.1048+24C>T) c.526+24C>T (n.526+24C>T) c.1090+24C>T (n.1090+24C>T) c.53+24C>T c.259+24C>T (n.259+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915525G>A | CA2618858177 | ACVRL1 | c.778+25G>A (n.778+25G>A) c.1048+25G>A (n.1048+25G>A) c.526+25G>A (n.526+25G>A) c.1090+25G>A (n.1090+25G>A) c.53+25G>A c.259+25G>A (n.259+25G>A) | gnomAD v4 |
12 | g.51915525G>C | CA2618858179 | ACVRL1 | c.778+25G>C (n.778+25G>C) c.1048+25G>C (n.1048+25G>C) c.526+25G>C (n.526+25G>C) c.1090+25G>C (n.1090+25G>C) c.53+25G>C c.259+25G>C (n.259+25G>C) | gnomAD v4 |
12 | g.51915525G= | CA2036236322 | ACVRL1 | c.778+25G= (n.778+25G=) c.1048+25G= (n.1048+25G=) c.526+25G= (n.526+25G=) c.1090+25G= (n.1090+25G=) c.53+25G= c.259+25G= (n.259+25G=) | |
12 | g.51915525G>T | CA6573046 | ACVRL1 | c.778+25G>T (n.778+25G>T) c.1048+25G>T (n.1048+25G>T) c.526+25G>T (n.526+25G>T) c.1090+25G>T (n.1090+25G>T) c.53+25G>T c.259+25G>T (n.259+25G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51915526C>A | CA2618858186 | ACVRL1 | c.778+26C>A (n.778+26C>A) c.1048+26C>A (n.1048+26C>A) c.526+26C>A (n.526+26C>A) c.1090+26C>A (n.1090+26C>A) c.53+26C>A c.259+26C>A (n.259+26C>A) | gnomAD v4 |
12 | g.51915526C= | CA2036236323 | ACVRL1 | c.778+26C= (n.778+26C=) c.1048+26C= (n.1048+26C=) c.526+26C= (n.526+26C=) c.1090+26C= (n.1090+26C=) c.53+26C= c.259+26C= (n.259+26C=) | |
12 | g.51915526C>T | CA947666414 | ACVRL1 | c.778+26C>T (n.778+26C>T) c.1048+26C>T (n.1048+26C>T) c.526+26C>T (n.526+26C>T) c.1090+26C>T (n.1090+26C>T) c.53+26C>T c.259+26C>T (n.259+26C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51915527C>A | CA2618858195 | ACVRL1 | c.778+27C>A (n.778+27C>A) c.1048+27C>A (n.1048+27C>A) c.526+27C>A (n.526+27C>A) c.1090+27C>A (n.1090+27C>A) c.53+27C>A c.259+27C>A (n.259+27C>A) | gnomAD v4 |
12 | g.51915528C>A | CA605052025 | ACVRL1 | c.778+28C>A (n.778+28C>A) c.1048+28C>A (n.1048+28C>A) c.526+28C>A (n.526+28C>A) c.1090+28C>A (n.1090+28C>A) c.53+28C>A c.259+28C>A (n.259+28C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915528C= | CA2036236324 | ACVRL1 | c.778+28C= (n.778+28C=) c.1048+28C= (n.1048+28C=) c.526+28C= (n.526+28C=) c.1090+28C= (n.1090+28C=) c.53+28C= c.259+28C= (n.259+28C=) | |
12 | g.51915528C>G | CA236364279 | ACVRL1 | c.778+28C>G (n.778+28C>G) c.1048+28C>G (n.1048+28C>G) c.526+28C>G (n.526+28C>G) c.1090+28C>G (n.1090+28C>G) c.53+28C>G c.259+28C>G (n.259+28C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915528C>T | CA605052026 | ACVRL1 | c.778+28C>T (n.778+28C>T) c.1048+28C>T (n.1048+28C>T) c.526+28C>T (n.526+28C>T) c.1090+28C>T (n.1090+28C>T) c.53+28C>T c.259+28C>T (n.259+28C>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915531C= | CA2036236325 | ACVRL1 | c.778+31C= (n.778+31C=) c.1048+31C= (n.1048+31C=) c.526+31C= (n.526+31C=) c.1090+31C= (n.1090+31C=) c.53+31C= c.259+31C= (n.259+31C=) | |
12 | g.51915531C>T | CA605052027 | ACVRL1 | c.778+31C>T (n.778+31C>T) c.1048+31C>T (n.1048+31C>T) c.526+31C>T (n.526+31C>T) c.1090+31C>T (n.1090+31C>T) c.53+31C>T c.259+31C>T (n.259+31C>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915532A>G | CA2618858207 | ACVRL1 | c.778+32A>G (n.778+32A>G) c.1048+32A>G (n.1048+32A>G) c.526+32A>G (n.526+32A>G) c.1090+32A>G (n.1090+32A>G) c.53+32A>G c.259+32A>G (n.259+32A>G) | gnomAD v4 |
12 | g.51915534A= | CA2036236326 | ACVRL1 | c.778+34A= (n.778+34A=) c.1048+34A= (n.1048+34A=) c.526+34A= (n.526+34A=) c.1090+34A= (n.1090+34A=) c.53+34A= c.259+34A= (n.259+34A=) | |
12 | g.51915534A>C | CA6573047 | ACVRL1 | c.778+34A>C (n.778+34A>C) c.1048+34A>C (n.1048+34A>C) c.526+34A>C (n.526+34A>C) c.1090+34A>C (n.1090+34A>C) c.53+34A>C c.259+34A>C (n.259+34A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51915534A>G | CA947666422 | ACVRL1 | c.778+34A>G (n.778+34A>G) c.1048+34A>G (n.1048+34A>G) c.526+34A>G (n.526+34A>G) c.1090+34A>G (n.1090+34A>G) c.53+34A>G c.259+34A>G (n.259+34A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51915535G>A | CA605052028 | ACVRL1 | c.778+35G>A (n.778+35G>A) c.1048+35G>A (n.1048+35G>A) c.526+35G>A (n.526+35G>A) c.1090+35G>A (n.1090+35G>A) c.53+35G>A c.259+35G>A (n.259+35G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915535G= | CA2036236327 | ACVRL1 | c.778+35G= (n.778+35G=) c.1048+35G= (n.1048+35G=) c.526+35G= (n.526+35G=) c.1090+35G= (n.1090+35G=) c.53+35G= c.259+35G= (n.259+35G=) | |
12 | g.51915535G>T | CA689766561 | ACVRL1 | c.778+35G>T (n.778+35G>T) c.1048+35G>T (n.1048+35G>T) c.526+35G>T (n.526+35G>T) c.1090+35G>T (n.1090+35G>T) c.53+35G>T c.259+35G>T (n.259+35G>T) | dbSNP gnomAD v4 |
12 | g.51915536G>A | CA236364300 | ACVRL1 | c.778+36G>A (n.778+36G>A) c.1048+36G>A (n.1048+36G>A) c.526+36G>A (n.526+36G>A) c.1090+36G>A (n.1090+36G>A) c.53+36G>A c.259+36G>A (n.259+36G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915536G= | CA2036236328 | ACVRL1 | c.778+36G= (n.778+36G=) c.1048+36G= (n.1048+36G=) c.526+36G= (n.526+36G=) c.1090+36G= (n.1090+36G=) c.53+36G= c.259+36G= (n.259+36G=) | |
12 | g.51915536G>T | CA2618858219 | ACVRL1 | c.778+36G>T (n.778+36G>T) c.1048+36G>T (n.1048+36G>T) c.526+36G>T (n.526+36G>T) c.1090+36G>T (n.1090+36G>T) c.53+36G>T c.259+36G>T (n.259+36G>T) | gnomAD v4 |
12 | g.51915537T>G | CA2036236330 | ACVRL1 | c.778+37T>G (n.778+37T>G) c.1048+37T>G (n.1048+37T>G) c.526+37T>G (n.526+37T>G) c.1090+37T>G (n.1090+37T>G) c.53+37T>G c.259+37T>G (n.259+37T>G) | dbSNP |
12 | g.51915537T= | CA2036236329 | ACVRL1 | c.778+37T= (n.778+37T=) c.1048+37T= (n.1048+37T=) c.526+37T= (n.526+37T=) c.1090+37T= (n.1090+37T=) c.53+37T= c.259+37T= (n.259+37T=) | |
12 | g.51915538G>A | CA6573048 | ACVRL1 | c.778+38G>A (n.778+38G>A) c.1048+38G>A (n.1048+38G>A) c.526+38G>A (n.526+38G>A) c.1090+38G>A (n.1090+38G>A) c.53+38G>A c.259+38G>A (n.259+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51915538G= | CA2036236331 | ACVRL1 | c.778+38G= (n.778+38G=) c.1048+38G= (n.1048+38G=) c.526+38G= (n.526+38G=) c.1090+38G= (n.1090+38G=) c.53+38G= c.259+38G= (n.259+38G=) | |
12 | g.51915538G>T | CA236364315 | ACVRL1 | c.778+38G>T (n.778+38G>T) c.1048+38G>T (n.1048+38G>T) c.526+38G>T (n.526+38G>T) c.1090+38G>T (n.1090+38G>T) c.53+38G>T c.259+38G>T (n.259+38G>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915539G>A | CA947666429 | ACVRL1 | c.778+39G>A (n.778+39G>A) c.1048+39G>A (n.1048+39G>A) c.526+39G>A (n.526+39G>A) c.1090+39G>A (n.1090+39G>A) c.53+39G>A c.259+39G>A (n.259+39G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51915539G= | CA2036236332 | ACVRL1 | c.778+39G= (n.778+39G=) c.1048+39G= (n.1048+39G=) c.526+39G= (n.526+39G=) c.1090+39G= (n.1090+39G=) c.53+39G= c.259+39G= (n.259+39G=) | |
12 | g.51915539G>T | CA2618858236 | ACVRL1 | c.778+39G>T (n.778+39G>T) c.1048+39G>T (n.1048+39G>T) c.526+39G>T (n.526+39G>T) c.1090+39G>T (n.1090+39G>T) c.53+39G>T c.259+39G>T (n.259+39G>T) | gnomAD v4 |
12 | g.51915540G>T | CA2618858240 | ACVRL1 | c.778+40G>T (n.778+40G>T) c.1048+40G>T (n.1048+40G>T) c.526+40G>T (n.526+40G>T) c.1090+40G>T (n.1090+40G>T) c.53+40G>T c.259+40G>T (n.259+40G>T) | gnomAD v4 |
12 | g.51915541C>A | CA2618858242 | ACVRL1 | c.778+41C>A (n.778+41C>A) c.1048+41C>A (n.1048+41C>A) c.526+41C>A (n.526+41C>A) c.1090+41C>A (n.1090+41C>A) c.53+41C>A c.259+41C>A (n.259+41C>A) | gnomAD v4 |
12 | g.51915541C= | CA2036236333 | ACVRL1 | c.778+41C= (n.778+41C=) c.1048+41C= (n.1048+41C=) c.526+41C= (n.526+41C=) c.1090+41C= (n.1090+41C=) c.53+41C= c.259+41C= (n.259+41C=) | |
12 | g.51915541C>T | CA236364329 | ACVRL1 | c.778+41C>T (n.778+41C>T) c.1048+41C>T (n.1048+41C>T) c.526+41C>T (n.526+41C>T) c.1090+41C>T (n.1090+41C>T) c.53+41C>T c.259+41C>T (n.259+41C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915542G>A | CA6573049 | ACVRL1 | c.778+42G>A (n.778+42G>A) c.1048+42G>A (n.1048+42G>A) c.526+42G>A (n.526+42G>A) c.1090+42G>A (n.1090+42G>A) c.53+42G>A c.259+42G>A (n.259+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51915542G= | CA2036236334 | ACVRL1 | c.778+42G= (n.778+42G=) c.1048+42G= (n.1048+42G=) c.526+42G= (n.526+42G=) c.1090+42G= (n.1090+42G=) c.53+42G= c.259+42G= (n.259+42G=) | |
12 | g.51915542G>T | CA2618858251 | ACVRL1 | c.778+42G>T (n.778+42G>T) c.1048+42G>T (n.1048+42G>T) c.526+42G>T (n.526+42G>T) c.1090+42G>T (n.1090+42G>T) c.53+42G>T c.259+42G>T (n.259+42G>T) | gnomAD v4 |
12 | g.51915543G>T | CA2618858267 | ACVRL1 | c.778+43G>T (n.778+43G>T) c.1048+43G>T (n.1048+43G>T) c.526+43G>T (n.526+43G>T) c.1090+43G>T (n.1090+43G>T) c.53+43G>T c.259+43G>T (n.259+43G>T) | gnomAD v4 |
12 | g.51915544A= | CA2036236335 | ACVRL1 | c.778+44A= (n.778+44A=) c.1048+44A= (n.1048+44A=) c.526+44A= (n.526+44A=) c.1090+44A= (n.1090+44A=) c.53+44A= c.259+44A= (n.259+44A=) | |
12 | g.51915544A>G | CA2036236336 | ACVRL1 | c.778+44A>G (n.778+44A>G) c.1048+44A>G (n.1048+44A>G) c.526+44A>G (n.526+44A>G) c.1090+44A>G (n.1090+44A>G) c.53+44A>G c.259+44A>G (n.259+44A>G) | dbSNP |
12 | g.51915545G>A | CA605052041 | ACVRL1 | c.778+45G>A (n.778+45G>A) c.1048+45G>A (n.1048+45G>A) c.526+45G>A (n.526+45G>A) c.1090+45G>A (n.1090+45G>A) c.53+45G>A c.259+45G>A (n.259+45G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915545G= | CA2036236337 | ACVRL1 | c.778+45G= (n.778+45G=) c.1048+45G= (n.1048+45G=) c.526+45G= (n.526+45G=) c.1090+45G= (n.1090+45G=) c.53+45G= c.259+45G= (n.259+45G=) | |
12 | g.51915545G>T | CA2618858273 | ACVRL1 | c.778+45G>T (n.778+45G>T) c.1048+45G>T (n.1048+45G>T) c.526+45G>T (n.526+45G>T) c.1090+45G>T (n.1090+45G>T) c.53+45G>T c.259+45G>T (n.259+45G>T) | gnomAD v4 |
12 | g.51915546C>A | CA2618858279 | ACVRL1 | c.778+46C>A (n.778+46C>A) c.1048+46C>A (n.1048+46C>A) c.526+46C>A (n.526+46C>A) c.1090+46C>A (n.1090+46C>A) c.53+46C>A c.259+46C>A (n.259+46C>A) | gnomAD v4 |
12 | g.51915546C= | CA2036236338 | ACVRL1 | c.778+46C= (n.778+46C=) c.1048+46C= (n.1048+46C=) c.526+46C= (n.526+46C=) c.1090+46C= (n.1090+46C=) c.53+46C= c.259+46C= (n.259+46C=) | |
12 | g.51915546C>T | CA6573050 | ACVRL1 | c.778+46C>T (n.778+46C>T) c.1048+46C>T (n.1048+46C>T) c.526+46C>T (n.526+46C>T) c.1090+46C>T (n.1090+46C>T) c.53+46C>T c.259+46C>T (n.259+46C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51915547T>C | CA2575161495 | ACVRL1 | c.778+47T>C (n.778+47T>C) c.1048+47T>C (n.1048+47T>C) c.526+47T>C (n.526+47T>C) c.1090+47T>C (n.1090+47T>C) c.53+47T>C c.259+47T>C (n.259+47T>C) |