Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51915193T>A | CA2575161491 | ACVRL1 | c.503-32T>A (n.503-32T>A) c.773-32T>A (n.773-32T>A) c.251-32T>A (n.251-32T>A) c.815-32T>A (n.815-32T>A) c.-17-32T>A (n.-17-32T>A) | gnomAD v4 |
12 | g.51915196G>A | CA689765911 | ACVRL1 | c.503-29G>A (n.503-29G>A) c.773-29G>A (n.773-29G>A) c.251-29G>A (n.251-29G>A) c.815-29G>A (n.815-29G>A) c.-17-29G>A (n.-17-29G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51915196G= | CA2036269406 | ACVRL1 | c.503-29G= (n.503-29G=) c.773-29G= (n.773-29G=) c.251-29G= (n.251-29G=) c.815-29G= (n.815-29G=) c.-17-29G= (n.-17-29G=) | |
12 | g.51915197C>A | CA2618857301 | ACVRL1 | c.503-28C>A (n.503-28C>A) c.773-28C>A (n.773-28C>A) c.251-28C>A (n.251-28C>A) c.815-28C>A (n.815-28C>A) c.-17-28C>A (n.-17-28C>A) | gnomAD v4 |
12 | g.51915200A>G | CA2618857303 | ACVRL1 | c.503-25A>G (n.503-25A>G) c.773-25A>G (n.773-25A>G) c.251-25A>G (n.251-25A>G) c.815-25A>G (n.815-25A>G) c.-17-25A>G (n.-17-25A>G) | gnomAD v4 |
12 | g.51915202T>G | CA2618857308 | ACVRL1 | c.503-23T>G (n.503-23T>G) c.773-23T>G (n.773-23T>G) c.251-23T>G (n.251-23T>G) c.815-23T>G (n.815-23T>G) c.-17-23T>G (n.-17-23T>G) | gnomAD v4 |
12 | g.51915203C= | CA2036269407 | ACVRL1 | c.503-22C= (n.503-22C=) c.773-22C= (n.773-22C=) c.251-22C= (n.251-22C=) c.815-22C= (n.815-22C=) c.-17-22C= (n.-17-22C=) | |
12 | g.51915203C>T | CA6572994 | ACVRL1 | c.503-22C>T (n.503-22C>T) c.773-22C>T (n.773-22C>T) c.251-22C>T (n.251-22C>T) c.815-22C>T (n.815-22C>T) c.-17-22C>T (n.-17-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51915204A= | CA2036269408 | ACVRL1 | c.503-21A= (n.503-21A=) c.773-21A= (n.773-21A=) c.251-21A= (n.251-21A=) c.815-21A= (n.815-21A=) c.-17-21A= (n.-17-21A=) | |
12 | g.51915204A>C | CA2036269409 | ACVRL1 | c.503-21A>C (n.503-21A>C) c.773-21A>C (n.773-21A>C) c.251-21A>C (n.251-21A>C) c.815-21A>C (n.815-21A>C) c.-17-21A>C (n.-17-21A>C) | dbSNP |
12 | g.51915204A>G | CA2618857313 | ACVRL1 | c.503-21A>G (n.503-21A>G) c.773-21A>G (n.773-21A>G) c.251-21A>G (n.251-21A>G) c.815-21A>G (n.815-21A>G) c.-17-21A>G (n.-17-21A>G) | gnomAD v4 |
12 | g.51915208A>G | CA2618857314 | ACVRL1 | c.503-17A>G (n.503-17A>G) c.773-17A>G (n.773-17A>G) c.251-17A>G (n.251-17A>G) c.815-17A>G (n.815-17A>G) c.-17-17A>G (n.-17-17A>G) | gnomAD v4 |
12 | g.51915208A>T | CA2618857317 | ACVRL1 | c.503-17A>T (n.503-17A>T) c.773-17A>T (n.773-17A>T) c.251-17A>T (n.251-17A>T) c.815-17A>T (n.815-17A>T) c.-17-17A>T (n.-17-17A>T) | gnomAD v4 |
12 | g.51915209A= | CA2036269410 | ACVRL1 | c.503-16A= (n.503-16A=) c.773-16A= (n.773-16A=) c.251-16A= (n.251-16A=) c.815-16A= (n.815-16A=) c.-17-16A= (n.-17-16A=) | |
12 | g.51915209A>C | CA6572995 | ACVRL1 | c.503-16A>C (n.503-16A>C) c.773-16A>C (n.773-16A>C) c.251-16A>C (n.251-16A>C) c.815-16A>C (n.815-16A>C) c.-17-16A>C (n.-17-16A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915210C>A | CA2618857318 | ACVRL1 | c.503-15C>A (n.503-15C>A) c.773-15C>A (n.773-15C>A) c.251-15C>A (n.251-15C>A) c.815-15C>A (n.815-15C>A) c.-17-15C>A (n.-17-15C>A) | gnomAD v4 |
12 | g.51915212T>A | CA2618857319 | ACVRL1 | c.503-13T>A (n.503-13T>A) c.773-13T>A (n.773-13T>A) c.251-13T>A (n.251-13T>A) c.815-13T>A (n.815-13T>A) c.-17-13T>A (n.-17-13T>A) | gnomAD v4 |
12 | g.51915212T>C | CA2618857320 | ACVRL1 | c.503-13T>C (n.503-13T>C) c.773-13T>C (n.773-13T>C) c.251-13T>C (n.251-13T>C) c.815-13T>C (n.815-13T>C) c.-17-13T>C (n.-17-13T>C) | gnomAD v4 |
12 | g.51915212T>G | CA2036269412 | ACVRL1 | c.503-13T>G (n.503-13T>G) c.773-13T>G (n.773-13T>G) c.251-13T>G (n.251-13T>G) c.815-13T>G (n.815-13T>G) c.-17-13T>G (n.-17-13T>G) | dbSNP |
12 | g.51915212T= | CA2036269411 | ACVRL1 | c.503-13T= (n.503-13T=) c.773-13T= (n.773-13T=) c.251-13T= (n.251-13T=) c.815-13T= (n.815-13T=) c.-17-13T= (n.-17-13T=) | |
12 | g.51915215C= | CA2036269413 | ACVRL1 | c.503-10C= (n.503-10C=) c.773-10C= (n.773-10C=) c.251-10C= (n.251-10C=) c.815-10C= (n.815-10C=) c.-17-10C= (n.-17-10C=) | |
12 | g.51915215C>T | CA236363929 | ACVRL1 | c.503-10C>T (n.503-10C>T) c.773-10C>T (n.773-10C>T) c.251-10C>T (n.251-10C>T) c.815-10C>T (n.815-10C>T) c.-17-10C>T (n.-17-10C>T) | dbSNP gnomAD v4 |
12 | g.51915216T>G | CA605238812 | ACVRL1 | c.503-9T>G (n.503-9T>G) c.773-9T>G (n.773-9T>G) c.251-9T>G (n.251-9T>G) c.815-9T>G (n.815-9T>G) c.-17-9T>G (n.-17-9T>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915216T= | CA2036269414 | ACVRL1 | c.503-9T= (n.503-9T=) c.773-9T= (n.773-9T=) c.251-9T= (n.251-9T=) c.815-9T= (n.815-9T=) c.-17-9T= (n.-17-9T=) | |
12 | g.51915217G>T | CA2618857330 | ACVRL1 | c.503-8G>T (n.503-8G>T) c.773-8G>T (n.773-8G>T) c.251-8G>T (n.251-8G>T) c.815-8G>T (n.815-8G>T) c.-17-8G>T (n.-17-8G>T) | gnomAD v4 |
12 | g.51915217_51915218delinsGC | CA2036269415 | ACVRL1 | c.503-8_503-7delinsGC (n.503-8_503-7delinsGC) c.773-8_773-7delinsGC (n.773-8_773-7delinsGC) c.251-8_251-7delinsGC (n.251-8_251-7delinsGC) c.815-8_815-7delinsGC (n.815-8_815-7delinsGC) c.-17-8_-17-7delinsGC (n.-17-8_-17-7delinsGC) | |
12 | g.51915218del | CA605238814 | ACVRL1 | c.503-7del (n.503-7del) c.773-7del (n.773-7del) c.251-7del (n.251-7del) c.815-7del (n.815-7del) c.-17-7del (n.-17-7del) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915218C= | CA2036269416 | ACVRL1 | c.503-7C= (n.503-7C=) c.773-7C= (n.773-7C=) c.251-7C= (n.251-7C=) c.815-7C= (n.815-7C=) c.-17-7C= (n.-17-7C=) | |
12 | g.51915218C>T | CA605238813 | ACVRL1 | c.503-7C>T (n.503-7C>T) c.773-7C>T (n.773-7C>T) c.251-7C>T (n.251-7C>T) c.815-7C>T (n.815-7C>T) c.-17-7C>T (n.-17-7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915218_51915219delinsCA | CA2036269417 | ACVRL1 | c.503-7_503-6delinsCA (n.503-7_503-6delinsCA) c.773-7_773-6delinsCA (n.773-7_773-6delinsCA) c.251-7_251-6delinsCA (n.251-7_251-6delinsCA) c.815-7_815-6delinsCA (n.815-7_815-6delinsCA) c.-17-7_-17-6delinsCA (n.-17-7_-17-6delinsCA) | |
12 | g.51915218_51915219delinsTC | CA658656306 | ACVRL1 | c.503-7_503-6delinsTC (n.503-7_503-6delinsTC) c.773-7_773-6delinsTC (n.773-7_773-6delinsTC) c.251-7_251-6delinsTC (n.251-7_251-6delinsTC) c.815-7_815-6delinsTC (n.815-7_815-6delinsTC) c.-17-7_-17-6delinsTC (n.-17-7_-17-6delinsTC) | ClinVar dbSNP |
12 | g.51915219A= | CA2036269418 | ACVRL1 | c.503-6A= (n.503-6A=) c.773-6A= (n.773-6A=) c.251-6A= (n.251-6A=) c.815-6A= (n.815-6A=) c.-17-6A= (n.-17-6A=) | |
12 | g.51915219A>C | CA605238815 | ACVRL1 | c.503-6A>C (n.503-6A>C) c.773-6A>C (n.773-6A>C) c.251-6A>C (n.251-6A>C) c.815-6A>C (n.815-6A>C) c.-17-6A>C (n.-17-6A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915219A>G | CA6572996 | ACVRL1 | c.503-6A>G (n.503-6A>G) c.773-6A>G (n.773-6A>G) c.251-6A>G (n.251-6A>G) c.815-6A>G (n.815-6A>G) c.-17-6A>G (n.-17-6A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915221A>G | CA2618857389 | ACVRL1 | c.503-4A>G (n.503-4A>G) c.773-4A>G (n.773-4A>G) c.251-4A>G (n.251-4A>G) c.815-4A>G (n.815-4A>G) c.-17-4A>G (n.-17-4A>G) | gnomAD v4 |
12 | g.51915222C= | CA2036269419 | ACVRL1 | c.503-3C= (n.503-3C=) c.773-3C= (n.773-3C=) c.251-3C= (n.251-3C=) c.815-3C= (n.815-3C=) c.-17-3C= (n.-17-3C=) | |
12 | g.51915222C>G | CA915948522 | ACVRL1 | c.503-3C>G (n.503-3C>G) c.773-3C>G (n.773-3C>G) c.251-3C>G (n.251-3C>G) c.815-3C>G (n.815-3C>G) c.-17-3C>G (n.-17-3C>G) | ClinVar dbSNP gnomAD v4 |
12 | g.51915223A>C | CA384900278 | ACVRL1 | c.503-2A>C (n.503-2A>C) c.773-2A>C (n.773-2A>C) c.251-2A>C (n.251-2A>C) c.815-2A>C (n.815-2A>C) c.-17-2A>C (n.-17-2A>C) | |
12 | g.51915223A>G | CA384900279 | ACVRL1 | c.503-2A>G (n.503-2A>G) c.773-2A>G (n.773-2A>G) c.251-2A>G (n.251-2A>G) c.815-2A>G (n.815-2A>G) c.-17-2A>G (n.-17-2A>G) | |
12 | g.51915223A>T | CA384900280 | ACVRL1 | c.503-2A>T (n.503-2A>T) c.773-2A>T (n.773-2A>T) c.251-2A>T (n.251-2A>T) c.815-2A>T (n.815-2A>T) c.-17-2A>T (n.-17-2A>T) | |
12 | g.51915224G>A | CA384900281 | ACVRL1 | c.503-1G>A (n.503-1G>A) c.773-1G>A (n.773-1G>A) c.251-1G>A (n.251-1G>A) c.815-1G>A (n.815-1G>A) c.-17-1G>A (n.-17-1G>A) | |
12 | g.51915224G>C | CA384900283 | ACVRL1 | c.503-1G>C (n.503-1G>C) c.773-1G>C (n.773-1G>C) c.251-1G>C (n.251-1G>C) c.815-1G>C (n.815-1G>C) c.-17-1G>C (n.-17-1G>C) | |
12 | g.51915224G>T | CA384900282 | ACVRL1 | c.503-1G>T (n.503-1G>T) c.773-1G>T (n.773-1G>T) c.251-1G>T (n.251-1G>T) c.815-1G>T (n.815-1G>T) c.-17-1G>T (n.-17-1G>T) | |
12 | g.51915225G>A | CA384900284 | ACVRL1 | c.503G>A (p.Gly168Asp) c.773G>A (p.Gly258Asp) c.251G>A (p.Gly84Asp) c.815G>A (p.Gly272Asp) c.-17G>A (n.-17G>A) | |
12 | g.51915225G>C | CA384900285 | ACVRL1 | c.503G>C (p.Gly168Ala) c.773G>C (p.Gly258Ala) c.251G>C (p.Gly84Ala) c.815G>C (p.Gly272Ala) c.-17G>C (n.-17G>C) | dbSNP gnomAD v4 |
12 | g.51915225G= | CA2036269420 | ACVRL1 | c.503G= (p.Gly168=) c.773G= (p.Gly258=) c.251G= (p.Gly84=) c.815G= (p.Gly272=) c.-17G= (n.-17G=) | |
12 | g.51915225G>T | CA384900286 | ACVRL1 | c.503G>T (p.Gly168Val) c.773G>T (p.Gly258Val) c.251G>T (p.Gly84Val) c.815G>T (p.Gly272Val) c.-17G>T (n.-17G>T) | gnomAD v4 |
12 | g.51915226C>A | CA480062956 | ACVRL1 | c.504C>A (p.Gly168=) c.774C>A (p.Gly258=) c.252C>A (p.Gly84=) c.816C>A (p.Gly272=) c.-16C>A (n.-16C>A) | |
12 | g.51915226C>G | CA480062953 | ACVRL1 | c.504C>G (p.Gly168=) c.774C>G (p.Gly258=) c.252C>G (p.Gly84=) c.816C>G (p.Gly272=) c.-16C>G (n.-16C>G) | |
12 | g.51915226C>T | CA480062954 | ACVRL1 | c.504C>T (p.Gly168=) c.774C>T (p.Gly258=) c.252C>T (p.Gly84=) c.816C>T (p.Gly272=) c.-16C>T (n.-16C>T) | gnomAD v4 |
12 | g.51915227T>A | CA384900287 | ACVRL1 | c.505T>A (p.Phe169Ile) c.775T>A (p.Phe259Ile) c.253T>A (p.Phe85Ile) c.817T>A (p.Phe273Ile) c.-15T>A (n.-15T>A) | |
12 | g.51915227T>C | CA384900288 | ACVRL1 | c.505T>C (p.Phe169Leu) c.775T>C (p.Phe259Leu) c.253T>C (p.Phe85Leu) c.817T>C (p.Phe273Leu) c.-15T>C (n.-15T>C) | |
12 | g.51915227T>G | CA384900289 | ACVRL1 | c.505T>G (p.Phe169Val) c.775T>G (p.Phe259Val) c.253T>G (p.Phe85Val) c.817T>G (p.Phe273Val) c.-15T>G (n.-15T>G) | |
12 | g.51915228T>A | CA384900292 | ACVRL1 | c.506T>A (p.Phe169Tyr) c.776T>A (p.Phe259Tyr) c.254T>A (p.Phe85Tyr) c.818T>A (p.Phe273Tyr) c.-14T>A (n.-14T>A) | |
12 | g.51915228T>C | CA384900290 | ACVRL1 | c.506T>C (p.Phe169Ser) c.776T>C (p.Phe259Ser) c.254T>C (p.Phe85Ser) c.818T>C (p.Phe273Ser) c.-14T>C (n.-14T>C) | |
12 | g.51915228T>G | CA384900291 | ACVRL1 | c.506T>G (p.Phe169Cys) c.776T>G (p.Phe259Cys) c.254T>G (p.Phe85Cys) c.818T>G (p.Phe273Cys) c.-14T>G (n.-14T>G) | |
12 | g.51915229C>A | CA384900293 | ACVRL1 | c.507C>A (p.Phe169Leu) c.777C>A (p.Phe259Leu) c.255C>A (p.Phe85Leu) c.819C>A (p.Phe273Leu) c.-13C>A (n.-13C>A) | |
12 | g.51915229C>G | CA384900294 | ACVRL1 | c.507C>G (p.Phe169Leu) c.777C>G (p.Phe259Leu) c.255C>G (p.Phe85Leu) c.819C>G (p.Phe273Leu) c.-13C>G (n.-13C>G) | |
12 | g.51915229C>T | CA480062961 | ACVRL1 | c.507C>T (p.Phe169=) c.777C>T (p.Phe259=) c.255C>T (p.Phe85=) c.819C>T (p.Phe273=) c.-13C>T (n.-13C>T) | |
12 | g.51915230A>C | CA384900295 | ACVRL1 | c.508A>C (p.Ile170Leu) c.778A>C (p.Ile260Leu) c.256A>C (p.Ile86Leu) c.820A>C (p.Ile274Leu) c.-12A>C (n.-12A>C) | gnomAD v4 |
12 | g.51915230A>G | CA384900296 | ACVRL1 | c.508A>G (p.Ile170Val) c.778A>G (p.Ile260Val) c.256A>G (p.Ile86Val) c.820A>G (p.Ile274Val) c.-12A>G (n.-12A>G) | |
12 | g.51915230A>T | CA384900297 | ACVRL1 | c.508A>T (p.Ile170Phe) c.778A>T (p.Ile260Phe) c.256A>T (p.Ile86Phe) c.820A>T (p.Ile274Phe) c.-12A>T (n.-12A>T) | |
12 | g.51915231T>A | CA384900298 | ACVRL1 | c.509T>A (p.Ile170Asn) c.779T>A (p.Ile260Asn) c.257T>A (p.Ile86Asn) c.821T>A (p.Ile274Asn) c.-11T>A (n.-11T>A) | |
12 | g.51915231T>C | CA384900300 | ACVRL1 | c.509T>C (p.Ile170Thr) c.779T>C (p.Ile260Thr) c.257T>C (p.Ile86Thr) c.821T>C (p.Ile274Thr) c.-11T>C (n.-11T>C) | |
12 | g.51915231T>G | CA384900299 | ACVRL1 | c.509T>G (p.Ile170Ser) c.779T>G (p.Ile260Ser) c.257T>G (p.Ile86Ser) c.821T>G (p.Ile274Ser) c.-11T>G (n.-11T>G) | |
12 | g.51915232C>A | CA480062963 | ACVRL1 | c.510C>A (p.Ile170=) c.780C>A (p.Ile260=) c.258C>A (p.Ile86=) c.822C>A (p.Ile274=) c.-10C>A (n.-10C>A) | |
12 | g.51915232C= | CA2036269421 | ACVRL1 | c.510C= (p.Ile170=) c.780C= (p.Ile260=) c.258C= (p.Ile86=) c.822C= (p.Ile274=) c.-10C= (n.-10C=) | |
12 | g.51915232C>G | CA384900301 | ACVRL1 | c.510C>G (p.Ile170Met) c.780C>G (p.Ile260Met) c.258C>G (p.Ile86Met) c.822C>G (p.Ile274Met) c.-10C>G (n.-10C>G) | |
12 | g.51915232C>T | CA236363944 | ACVRL1 | c.510C>T (p.Ile170=) c.780C>T (p.Ile260=) c.258C>T (p.Ile86=) c.822C>T (p.Ile274=) c.-10C>T (n.-10C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51915233G>A | CA384900303 | ACVRL1 | c.511G>A (p.Ala171Thr) c.781G>A (p.Ala261Thr) c.259G>A (p.Ala87Thr) c.823G>A (p.Ala275Thr) c.-9G>A (n.-9G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51915233G>C | CA384900305 | ACVRL1 | c.511G>C (p.Ala171Pro) c.781G>C (p.Ala261Pro) c.259G>C (p.Ala87Pro) c.823G>C (p.Ala275Pro) c.-9G>C (n.-9G>C) | |
12 | g.51915233G= | CA2036269422 | ACVRL1 | c.511G= (p.Ala171=) c.781G= (p.Ala261=) c.259G= (p.Ala87=) c.823G= (p.Ala275=) c.-9G= (n.-9G=) | |
12 | g.51915233G>T | CA384900306 | ACVRL1 | c.511G>T (p.Ala171Ser) c.781G>T (p.Ala261Ser) c.259G>T (p.Ala87Ser) c.823G>T (p.Ala275Ser) c.-9G>T (n.-9G>T) | |
12 | g.51915234C>A | CA384900308 | ACVRL1 | c.512C>A (p.Ala171Asp) c.782C>A (p.Ala261Asp) c.260C>A (p.Ala87Asp) c.824C>A (p.Ala275Asp) c.-8C>A (n.-8C>A) | ClinVar |
12 | g.51915234C>G | CA384900309 | ACVRL1 | c.512C>G (p.Ala171Gly) c.782C>G (p.Ala261Gly) c.260C>G (p.Ala87Gly) c.824C>G (p.Ala275Gly) c.-8C>G (n.-8C>G) | |
12 | g.51915234C>T | CA384900310 | ACVRL1 | c.512C>T (p.Ala171Val) c.782C>T (p.Ala261Val) c.260C>T (p.Ala87Val) c.824C>T (p.Ala275Val) c.-8C>T (n.-8C>T) | |
12 | g.51915235C>A | CA480062967 | ACVRL1 | c.513C>A (p.Ala171=) c.783C>A (p.Ala261=) c.261C>A (p.Ala87=) c.825C>A (p.Ala275=) c.-7C>A (n.-7C>A) | |
12 | g.51915235C>G | CA480062968 | ACVRL1 | c.513C>G (p.Ala171=) c.783C>G (p.Ala261=) c.261C>G (p.Ala87=) c.825C>G (p.Ala275=) c.-7C>G (n.-7C>G) | |
12 | g.51915235C>T | CA480062971 | ACVRL1 | c.513C>T (p.Ala171=) c.783C>T (p.Ala261=) c.261C>T (p.Ala87=) c.825C>T (p.Ala275=) c.-7C>T (n.-7C>T) | |
12 | g.51915236T>A | CA384900311 | ACVRL1 | c.514T>A (p.Ser172Thr) c.784T>A (p.Ser262Thr) c.262T>A (p.Ser88Thr) c.826T>A (p.Ser276Thr) c.-6T>A (n.-6T>A) | gnomAD v4 |
12 | g.51915236T>C | CA384900312 | ACVRL1 | c.514T>C (p.Ser172Pro) c.784T>C (p.Ser262Pro) c.262T>C (p.Ser88Pro) c.826T>C (p.Ser276Pro) c.-6T>C (n.-6T>C) | |
12 | g.51915236T>G | CA384900314 | ACVRL1 | c.514T>G (p.Ser172Ala) c.784T>G (p.Ser262Ala) c.262T>G (p.Ser88Ala) c.826T>G (p.Ser276Ala) c.-6T>G (n.-6T>G) | |
12 | g.51915237C>A | CA384900316 | ACVRL1 | c.515C>A (p.Ser172Ter) c.785C>A (p.Ser262Ter) c.263C>A (p.Ser88Ter) c.827C>A (p.Ser276Ter) c.-5C>A (n.-5C>A) | |
12 | g.51915237C>G | CA384900319 | ACVRL1 | c.515C>G (p.Ser172Ter) c.785C>G (p.Ser262Ter) c.263C>G (p.Ser88Ter) c.827C>G (p.Ser276Ter) c.-5C>G (n.-5C>G) | COSMIC COSMIC |
12 | g.51915237C>T | CA384900318 | ACVRL1 | c.515C>T (p.Ser172Leu) c.785C>T (p.Ser262Leu) c.263C>T (p.Ser88Leu) c.827C>T (p.Ser276Leu) c.-5C>T (n.-5C>T) | |
12 | g.51915238A= | CA2036269423 | ACVRL1 | c.516A= (p.Ser172=) c.786A= (p.Ser262=) c.264A= (p.Ser88=) c.828A= (p.Ser276=) c.-4A= (n.-4A=) | |
12 | g.51915238A>C | CA480062973 | ACVRL1 | c.516A>C (p.Ser172=) c.786A>C (p.Ser262=) c.264A>C (p.Ser88=) c.828A>C (p.Ser276=) c.-4A>C (n.-4A>C) | |
12 | g.51915238A>G | CA6572997 | ACVRL1 | c.516A>G (p.Ser172=) c.786A>G (p.Ser262=) c.264A>G (p.Ser88=) c.828A>G (p.Ser276=) c.-4A>G (n.-4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915238A>T | CA480062976 | ACVRL1 | c.516A>T (p.Ser172=) c.786A>T (p.Ser262=) c.264A>T (p.Ser88=) c.828A>T (p.Ser276=) c.-4A>T (n.-4A>T) | |
12 | g.51915239G>A | CA384900322 | ACVRL1 | c.517G>A (p.Asp173Asn) c.787G>A (p.Asp263Asn) c.265G>A (p.Asp89Asn) c.829G>A (p.Asp277Asn) c.-3G>A (n.-3G>A) | ClinVar dbSNP |
12 | g.51915239G>C | CA384900323 | ACVRL1 | c.517G>C (p.Asp173His) c.787G>C (p.Asp263His) c.265G>C (p.Asp89His) c.829G>C (p.Asp277His) c.-3G>C (n.-3G>C) | |
12 | g.51915239G>T | CA384900325 | ACVRL1 | c.517G>T (p.Asp173Tyr) c.787G>T (p.Asp263Tyr) c.265G>T (p.Asp89Tyr) c.829G>T (p.Asp277Tyr) c.-3G>T (n.-3G>T) | |
12 | g.51915240A= | CA2036269424 | ACVRL1 | c.518A= (p.Asp173=) c.788A= (p.Asp263=) c.266A= (p.Asp89=) c.830A= (p.Asp277=) c.-2A= (n.-2A=) | |
12 | g.51915240A>C | CA384900326 | ACVRL1 | c.518A>C (p.Asp173Ala) c.788A>C (p.Asp263Ala) c.266A>C (p.Asp89Ala) c.830A>C (p.Asp277Ala) c.-2A>C (n.-2A>C) | |
12 | g.51915240A>G | CA384900328 | ACVRL1 | c.518A>G (p.Asp173Gly) c.788A>G (p.Asp263Gly) c.266A>G (p.Asp89Gly) c.830A>G (p.Asp277Gly) c.-2A>G (n.-2A>G) | ClinVar dbSNP |
12 | g.51915240A>T | CA384900329 | ACVRL1 | c.518A>T (p.Asp173Val) c.788A>T (p.Asp263Val) c.266A>T (p.Asp89Val) c.830A>T (p.Asp277Val) c.-2A>T (n.-2A>T) | |
12 | g.51915241del | CA2739272047 | ACVRL1 | c.519del (p.Asp173GlufsTer2) c.789del (p.Asp263GlufsTer2) c.267del (p.Asp89GlufsTer2) c.831del (p.Asp277GlufsTer2) c.-1del (n.-1del) | ClinVar |
12 | g.51915241C>A | CA384900333 | ACVRL1 | c.519C>A (p.Asp173Glu) c.789C>A (p.Asp263Glu) c.267C>A (p.Asp89Glu) c.831C>A (p.Asp277Glu) c.-1C>A (n.-1C>A) | |
12 | g.51915241C>G | CA384900331 | ACVRL1 | c.519C>G (p.Asp173Glu) c.789C>G (p.Asp263Glu) c.267C>G (p.Asp89Glu) c.831C>G (p.Asp277Glu) c.-1C>G (n.-1C>G) | |
12 | g.51915241C>T | CA480062978 | ACVRL1 | c.519C>T (p.Asp173=) c.789C>T (p.Asp263=) c.267C>T (p.Asp89=) c.831C>T (p.Asp277=) c.-1C>T (n.-1C>T) | gnomAD v4 |
12 | g.51915242A= | CA2036269425 | ACVRL1 | c.520A= (p.Met174=) c.790A= (p.Met264=) c.268A= (p.Met90=) c.832A= (p.Met278=) c.1A= (p.Met1=) | |
12 | g.51915242A>C | CA384900334 | ACVRL1 | c.520A>C (p.Met174Leu) c.790A>C (p.Met264Leu) c.268A>C (p.Met90Leu) c.832A>C (p.Met278Leu) c.1A>C (p.Met1Leu) | |
12 | g.51915242A>G | CA384900336 | ACVRL1 | c.520A>G (p.Met174Val) c.790A>G (p.Met264Val) c.268A>G (p.Met90Val) c.832A>G (p.Met278Val) c.1A>G (p.Met1Val) | dbSNP gnomAD v4 |
12 | g.51915242A>T | CA384900337 | ACVRL1 | c.520A>T (p.Met174Leu) c.790A>T (p.Met264Leu) c.268A>T (p.Met90Leu) c.832A>T (p.Met278Leu) c.1A>T (p.Met1Leu) | |
12 | g.51915243T>A | CA384900339 | ACVRL1 | c.521T>A (p.Met174Lys) c.791T>A (p.Met264Lys) c.269T>A (p.Met90Lys) c.833T>A (p.Met278Lys) c.2T>A (p.Met1Lys) | |
12 | g.51915243T>C | CA384900341 | ACVRL1 | c.521T>C (p.Met174Thr) c.791T>C (p.Met264Thr) c.269T>C (p.Met90Thr) c.833T>C (p.Met278Thr) c.2T>C (p.Met1Thr) | |
12 | g.51915243T>G | CA384900342 | ACVRL1 | c.521T>G (p.Met174Arg) c.791T>G (p.Met264Arg) c.269T>G (p.Met90Arg) c.833T>G (p.Met278Arg) c.2T>G (p.Met1Arg) | |
12 | g.51915244G>A | CA384900344 | ACVRL1 | c.522G>A (p.Met174Ile) c.792G>A (p.Met264Ile) c.270G>A (p.Met90Ile) c.834G>A (p.Met278Ile) c.3G>A (p.Met1Ile) | |
12 | g.51915244G>C | CA384900347 | ACVRL1 | c.522G>C (p.Met174Ile) c.792G>C (p.Met264Ile) c.270G>C (p.Met90Ile) c.834G>C (p.Met278Ile) c.3G>C (p.Met1Ile) | |
12 | g.51915244G= | CA2036269426 | ACVRL1 | c.522G= (p.Met174=) c.792G= (p.Met264=) c.270G= (p.Met90=) c.834G= (p.Met278=) c.3G= (p.Met1=) | |
12 | g.51915244G>T | CA384900346 | ACVRL1 | c.522G>T (p.Met174Ile) c.792G>T (p.Met264Ile) c.270G>T (p.Met90Ile) c.834G>T (p.Met278Ile) c.3G>T (p.Met1Ile) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915245A= | CA2036269427 | ACVRL1 | c.523A= (p.Thr175=) c.793A= (p.Thr265=) c.271A= (p.Thr91=) c.835A= (p.Thr279=) c.4A= (p.Thr2=) | |
12 | g.51915245A>C | CA384900349 | ACVRL1 | c.523A>C (p.Thr175Pro) c.793A>C (p.Thr265Pro) c.271A>C (p.Thr91Pro) c.835A>C (p.Thr279Pro) c.4A>C (p.Thr2Pro) | dbSNP |
12 | g.51915245A>G | CA384900351 | ACVRL1 | c.523A>G (p.Thr175Ala) c.793A>G (p.Thr265Ala) c.271A>G (p.Thr91Ala) c.835A>G (p.Thr279Ala) c.4A>G (p.Thr2Ala) | |
12 | g.51915245A>T | CA384900352 | ACVRL1 | c.523A>T (p.Thr175Ser) c.793A>T (p.Thr265Ser) c.271A>T (p.Thr91Ser) c.835A>T (p.Thr279Ser) c.4A>T (p.Thr2Ser) | |
12 | g.51915246C>A | CA384900354 | ACVRL1 | c.524C>A (p.Thr175Asn) c.794C>A (p.Thr265Asn) c.272C>A (p.Thr91Asn) c.836C>A (p.Thr279Asn) c.5C>A (p.Thr2Asn) | |
12 | g.51915246C>G | CA384900355 | ACVRL1 | c.524C>G (p.Thr175Ser) c.794C>G (p.Thr265Ser) c.272C>G (p.Thr91Ser) c.836C>G (p.Thr279Ser) c.5C>G (p.Thr2Ser) | |
12 | g.51915246C>T | CA384900357 | ACVRL1 | c.524C>T (p.Thr175Ile) c.794C>T (p.Thr265Ile) c.272C>T (p.Thr91Ile) c.836C>T (p.Thr279Ile) c.5C>T (p.Thr2Ile) | |
12 | g.51915246_51915251del | CA2580086475 | ACVRL1 | c.524_529del (p.Thr175_Arg177delinsSer) c.794_799del (p.Thr265_Arg267delinsSer) c.272_277del (p.Thr91_Arg93delinsSer) c.836_841del (p.Thr279_Arg281delinsSer) c.5_10del (p.Thr2_Arg4delinsSer) | ClinVar |
12 | g.51915247C>A | CA480062986 | ACVRL1 | c.525C>A (p.Thr175=) c.795C>A (p.Thr265=) c.273C>A (p.Thr91=) c.837C>A (p.Thr279=) c.6C>A (p.Thr2=) | |
12 | g.51915247C>G | CA480062984 | ACVRL1 | c.525C>G (p.Thr175=) c.795C>G (p.Thr265=) c.273C>G (p.Thr91=) c.837C>G (p.Thr279=) c.6C>G (p.Thr2=) | |
12 | g.51915247C>T | CA480062985 | ACVRL1 | c.525C>T (p.Thr175=) c.795C>T (p.Thr265=) c.273C>T (p.Thr91=) c.837C>T (p.Thr279=) c.6C>T (p.Thr2=) | |
12 | g.51915248T>A | CA384900359 | ACVRL1 | c.526T>A (p.Ser176Thr) c.796T>A (p.Ser266Thr) c.274T>A (p.Ser92Thr) c.838T>A (p.Ser280Thr) c.7T>A (p.Ser3Thr) | |
12 | g.51915248T>C | CA384900361 | ACVRL1 | c.526T>C (p.Ser176Pro) c.796T>C (p.Ser266Pro) c.274T>C (p.Ser92Pro) c.838T>C (p.Ser280Pro) c.7T>C (p.Ser3Pro) | |
12 | g.51915248T>G | CA384900362 | ACVRL1 | c.526T>G (p.Ser176Ala) c.796T>G (p.Ser266Ala) c.274T>G (p.Ser92Ala) c.838T>G (p.Ser280Ala) c.7T>G (p.Ser3Ala) | |
12 | g.51915249C>A | CA384900364 | ACVRL1 | c.527C>A (p.Ser176Tyr) c.797C>A (p.Ser266Tyr) c.275C>A (p.Ser92Tyr) c.839C>A (p.Ser280Tyr) c.8C>A (p.Ser3Tyr) | |
12 | g.51915249C>G | CA384900366 | ACVRL1 | c.527C>G (p.Ser176Cys) c.797C>G (p.Ser266Cys) c.275C>G (p.Ser92Cys) c.839C>G (p.Ser280Cys) c.8C>G (p.Ser3Cys) | |
12 | g.51915249C>T | CA384900367 | ACVRL1 | c.527C>T (p.Ser176Phe) c.797C>T (p.Ser266Phe) c.275C>T (p.Ser92Phe) c.839C>T (p.Ser280Phe) c.8C>T (p.Ser3Phe) | |
12 | g.51915250C>A | CA480063142 | ACVRL1 | c.528C>A (p.Ser176=) c.798C>A (p.Ser266=) c.276C>A (p.Ser92=) c.840C>A (p.Ser280=) c.9C>A (p.Ser3=) | ClinVar dbSNP gnomAD v4 |
12 | g.51915250C>G | CA480063143 | ACVRL1 | c.528C>G (p.Ser176=) c.798C>G (p.Ser266=) c.276C>G (p.Ser92=) c.840C>G (p.Ser280=) c.9C>G (p.Ser3=) | |
12 | g.51915250C>T | CA480063144 | ACVRL1 | c.528C>T (p.Ser176=) c.798C>T (p.Ser266=) c.276C>T (p.Ser92=) c.840C>T (p.Ser280=) c.9C>T (p.Ser3=) | |
12 | g.51915251C>A | CA384900371 | ACVRL1 | c.529C>A (p.Arg177Ser) c.799C>A (p.Arg267Ser) c.277C>A (p.Arg93Ser) c.841C>A (p.Arg281Ser) c.10C>A (p.Arg4Ser) | gnomAD v4 |
12 | g.51915251C= | CA2036269428 | ACVRL1 | c.529C= (p.Arg177=) c.799C= (p.Arg267=) c.277C= (p.Arg93=) c.841C= (p.Arg281=) c.10C= (p.Arg4=) | |
12 | g.51915251C>G | CA384900369 | ACVRL1 | c.529C>G (p.Arg177Gly) c.799C>G (p.Arg267Gly) c.277C>G (p.Arg93Gly) c.841C>G (p.Arg281Gly) c.10C>G (p.Arg4Gly) | |
12 | g.51915251C>T | CA6572998 | ACVRL1 | c.529C>T (p.Arg177Cys) c.799C>T (p.Arg267Cys) c.277C>T (p.Arg93Cys) c.841C>T (p.Arg281Cys) c.10C>T (p.Arg4Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51915252G>A | CA6572999 | ACVRL1 | c.530G>A (p.Arg177His) c.800G>A (p.Arg267His) c.278G>A (p.Arg93His) c.842G>A (p.Arg281His) c.11G>A (p.Arg4His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915252G>C | CA384900373 | ACVRL1 | c.530G>C (p.Arg177Pro) c.800G>C (p.Arg267Pro) c.278G>C (p.Arg93Pro) c.842G>C (p.Arg281Pro) c.11G>C (p.Arg4Pro) | dbSNP gnomAD v2 |
12 | g.51915252G= | CA2036269429 | ACVRL1 | c.530G= (p.Arg177=) c.800G= (p.Arg267=) c.278G= (p.Arg93=) c.842G= (p.Arg281=) c.11G= (p.Arg4=) | |
12 | g.51915252G>T | CA384900374 | ACVRL1 | c.530G>T (p.Arg177Leu) c.800G>T (p.Arg267Leu) c.278G>T (p.Arg93Leu) c.842G>T (p.Arg281Leu) c.11G>T (p.Arg4Leu) | |
12 | g.51915253C>A | CA480063145 | ACVRL1 | c.531C>A (p.Arg177=) c.801C>A (p.Arg267=) c.279C>A (p.Arg93=) c.843C>A (p.Arg281=) c.12C>A (p.Arg4=) | |
12 | g.51915253C>G | CA480063146 | ACVRL1 | c.531C>G (p.Arg177=) c.801C>G (p.Arg267=) c.279C>G (p.Arg93=) c.843C>G (p.Arg281=) c.12C>G (p.Arg4=) | |
12 | g.51915253C>T | CA480063147 | ACVRL1 | c.531C>T (p.Arg177=) c.801C>T (p.Arg267=) c.279C>T (p.Arg93=) c.843C>T (p.Arg281=) c.12C>T (p.Arg4=) | COSMIC COSMIC |
12 | g.51915254A>C | CA384900376 | ACVRL1 | c.532A>C (p.Asn178His) c.802A>C (p.Asn268His) c.280A>C (p.Asn94His) c.844A>C (p.Asn282His) c.13A>C (p.Asn5His) | |
12 | g.51915254A>G | CA384900379 | ACVRL1 | c.532A>G (p.Asn178Asp) c.802A>G (p.Asn268Asp) c.280A>G (p.Asn94Asp) c.844A>G (p.Asn282Asp) c.13A>G (p.Asn5Asp) | |
12 | g.51915254A>T | CA384900380 | ACVRL1 | c.532A>T (p.Asn178Tyr) c.802A>T (p.Asn268Tyr) c.280A>T (p.Asn94Tyr) c.844A>T (p.Asn282Tyr) c.13A>T (p.Asn5Tyr) | |
12 | g.51915255A>C | CA384900386 | ACVRL1 | c.533A>C (p.Asn178Thr) c.803A>C (p.Asn268Thr) c.281A>C (p.Asn94Thr) c.845A>C (p.Asn282Thr) c.14A>C (p.Asn5Thr) | |
12 | g.51915255A>G | CA384900382 | ACVRL1 | c.533A>G (p.Asn178Ser) c.803A>G (p.Asn268Ser) c.281A>G (p.Asn94Ser) c.845A>G (p.Asn282Ser) c.14A>G (p.Asn5Ser) | gnomAD v4 |
12 | g.51915255A>T | CA384900384 | ACVRL1 | c.533A>T (p.Asn178Ile) c.803A>T (p.Asn268Ile) c.281A>T (p.Asn94Ile) c.845A>T (p.Asn282Ile) c.14A>T (p.Asn5Ile) | |
12 | g.51915256C>A | CA384900387 | ACVRL1 | c.534C>A (p.Asn178Lys) c.804C>A (p.Asn268Lys) c.282C>A (p.Asn94Lys) c.846C>A (p.Asn282Lys) c.15C>A (p.Asn5Lys) | |
12 | g.51915256C>G | CA384900389 | ACVRL1 | c.534C>G (p.Asn178Lys) c.804C>G (p.Asn268Lys) c.282C>G (p.Asn94Lys) c.846C>G (p.Asn282Lys) c.15C>G (p.Asn5Lys) | gnomAD v4 |
12 | g.51915256C>T | CA480063148 | ACVRL1 | c.534C>T (p.Asn178=) c.804C>T (p.Asn268=) c.282C>T (p.Asn94=) c.846C>T (p.Asn282=) c.15C>T (p.Asn5=) | |
12 | g.51915257T>A | CA384900390 | ACVRL1 | c.535T>A (p.Ser179Thr) c.805T>A (p.Ser269Thr) c.283T>A (p.Ser95Thr) c.847T>A (p.Ser283Thr) c.16T>A (p.Ser6Thr) | |
12 | g.51915257T>C | CA384900392 | ACVRL1 | c.535T>C (p.Ser179Pro) c.805T>C (p.Ser269Pro) c.283T>C (p.Ser95Pro) c.847T>C (p.Ser283Pro) c.16T>C (p.Ser6Pro) | |
12 | g.51915257T>G | CA384900393 | ACVRL1 | c.535T>G (p.Ser179Ala) c.805T>G (p.Ser269Ala) c.283T>G (p.Ser95Ala) c.847T>G (p.Ser283Ala) c.16T>G (p.Ser6Ala) | dbSNP |
12 | g.51915258C>A | CA384900395 | ACVRL1 | c.536C>A (p.Ser179Ter) c.806C>A (p.Ser269Ter) c.284C>A (p.Ser95Ter) c.848C>A (p.Ser283Ter) c.17C>A (p.Ser6Ter) | ClinVar |
12 | g.51915258C>G | CA384900398 | ACVRL1 | c.536C>G (p.Ser179Trp) c.806C>G (p.Ser269Trp) c.284C>G (p.Ser95Trp) c.848C>G (p.Ser283Trp) c.17C>G (p.Ser6Trp) | |
12 | g.51915258C>T | CA384900396 | ACVRL1 | c.536C>T (p.Ser179Leu) c.806C>T (p.Ser269Leu) c.284C>T (p.Ser95Leu) c.848C>T (p.Ser283Leu) c.17C>T (p.Ser6Leu) | |
12 | g.51915259_51915262del | CA2573148782 | ACVRL1 | c.537_540del (p.Ser180ArgfsTer?) c.807_810del (p.Ser270ArgfsTer?) c.285_288del (p.Ser96ArgfsTer?) c.849_852del (p.Ser284ArgfsTer?) c.18_21del (p.Ser7ArgfsTer?) | ClinVar dbSNP |
12 | g.51915259G>A | CA480063149 | ACVRL1 | c.537G>A (p.Ser179=) c.807G>A (p.Ser269=) c.285G>A (p.Ser95=) c.849G>A (p.Ser283=) c.18G>A (p.Ser6=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51915259G>C | CA480063150 | ACVRL1 | c.537G>C (p.Ser179=) c.807G>C (p.Ser269=) c.285G>C (p.Ser95=) c.849G>C (p.Ser283=) c.18G>C (p.Ser6=) | gnomAD v4 |
12 | g.51915259G= | CA2036269430 | ACVRL1 | c.537G= (p.Ser179=) c.807G= (p.Ser269=) c.285G= (p.Ser95=) c.849G= (p.Ser283=) c.18G= (p.Ser6=) | |
12 | g.51915259G>T | CA480063151 | ACVRL1 | c.537G>T (p.Ser179=) c.807G>T (p.Ser269=) c.285G>T (p.Ser95=) c.849G>T (p.Ser283=) c.18G>T (p.Ser6=) | gnomAD v4 |
12 | g.51915260A>C | CA384900400 | ACVRL1 | c.538A>C (p.Ser180Arg) c.808A>C (p.Ser270Arg) c.286A>C (p.Ser96Arg) c.850A>C (p.Ser284Arg) c.19A>C (p.Ser7Arg) | |
12 | g.51915260A>G | CA384900401 | ACVRL1 | c.538A>G (p.Ser180Gly) c.808A>G (p.Ser270Gly) c.286A>G (p.Ser96Gly) c.850A>G (p.Ser284Gly) c.19A>G (p.Ser7Gly) | |
12 | g.51915260A>T | CA384900403 | ACVRL1 | c.538A>T (p.Ser180Cys) c.808A>T (p.Ser270Cys) c.286A>T (p.Ser96Cys) c.850A>T (p.Ser284Cys) c.19A>T (p.Ser7Cys) | |
12 | g.51915260_51915272dup | CA658797917 | ACVRL1 | c.538_550dup (p.Trp184Ter) c.808_820dup (p.Trp274Ter) c.286_298dup (p.Trp100Ter) c.850_862dup (p.Trp288Ter) c.19_31dup (p.Trp11Ter) | ClinVar dbSNP |
12 | g.51915261G>A | CA384900404 | ACVRL1 | c.539G>A (p.Ser180Asn) c.809G>A (p.Ser270Asn) c.287G>A (p.Ser96Asn) c.851G>A (p.Ser284Asn) c.20G>A (p.Ser7Asn) | |
12 | g.51915261G>C | CA384900406 | ACVRL1 | c.539G>C (p.Ser180Thr) c.809G>C (p.Ser270Thr) c.287G>C (p.Ser96Thr) c.851G>C (p.Ser284Thr) c.20G>C (p.Ser7Thr) | |
12 | g.51915261G>T | CA384900407 | ACVRL1 | c.539G>T (p.Ser180Ile) c.809G>T (p.Ser270Ile) c.287G>T (p.Ser96Ile) c.851G>T (p.Ser284Ile) c.20G>T (p.Ser7Ile) | |
12 | g.51915263_51915275del | CA2695216738 | ACVRL1 | c.541_553del (p.Thr181SerfsTer26) c.811_823del (p.Thr271SerfsTer26) c.289_301del (p.Thr97SerfsTer26) c.853_865del (p.Thr285SerfsTer26) c.22_34del (p.Thr8SerfsTer26) | |
12 | g.51915262C>A | CA384900408 | ACVRL1 | c.540C>A (p.Ser180Arg) c.810C>A (p.Ser270Arg) c.288C>A (p.Ser96Arg) c.852C>A (p.Ser284Arg) c.21C>A (p.Ser7Arg) | |
12 | g.51915262C>G | CA384900409 | ACVRL1 | c.540C>G (p.Ser180Arg) c.810C>G (p.Ser270Arg) c.288C>G (p.Ser96Arg) c.852C>G (p.Ser284Arg) c.21C>G (p.Ser7Arg) | |
12 | g.51915262C>T | CA480063152 | ACVRL1 | c.540C>T (p.Ser180=) c.810C>T (p.Ser270=) c.288C>T (p.Ser96=) c.852C>T (p.Ser284=) c.21C>T (p.Ser7=) | |
12 | g.51915263A>C | CA384900411 | ACVRL1 | c.541A>C (p.Thr181Pro) c.811A>C (p.Thr271Pro) c.289A>C (p.Thr97Pro) c.853A>C (p.Thr285Pro) c.22A>C (p.Thr8Pro) | |
12 | g.51915263A>G | CA384900412 | ACVRL1 | c.541A>G (p.Thr181Ala) c.811A>G (p.Thr271Ala) c.289A>G (p.Thr97Ala) c.853A>G (p.Thr285Ala) c.22A>G (p.Thr8Ala) | |
12 | g.51915263A>T | CA384900413 | ACVRL1 | c.541A>T (p.Thr181Ser) c.811A>T (p.Thr271Ser) c.289A>T (p.Thr97Ser) c.853A>T (p.Thr285Ser) c.22A>T (p.Thr8Ser) | |
12 | g.51915264C>A | CA384900414 | ACVRL1 | c.542C>A (p.Thr181Lys) c.812C>A (p.Thr271Lys) c.290C>A (p.Thr97Lys) c.854C>A (p.Thr285Lys) c.23C>A (p.Thr8Lys) | ClinVar dbSNP |
12 | g.51915264C>G | CA384900417 | ACVRL1 | c.542C>G (p.Thr181Arg) c.812C>G (p.Thr271Arg) c.290C>G (p.Thr97Arg) c.854C>G (p.Thr285Arg) c.23C>G (p.Thr8Arg) | ClinVar |
12 | g.51915264C>T | CA384900415 | ACVRL1 | c.542C>T (p.Thr181Met) c.812C>T (p.Thr271Met) c.290C>T (p.Thr97Met) c.854C>T (p.Thr285Met) c.23C>T (p.Thr8Met) | gnomAD v4 COSMIC COSMIC |
12 | g.51915265G>A | CA6573000 | ACVRL1 | c.543G>A (p.Thr181=) c.813G>A (p.Thr271=) c.291G>A (p.Thr97=) c.855G>A (p.Thr285=) c.24G>A (p.Thr8=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915265G>C | CA480063153 | ACVRL1 | c.543G>C (p.Thr181=) c.813G>C (p.Thr271=) c.291G>C (p.Thr97=) c.855G>C (p.Thr285=) c.24G>C (p.Thr8=) | |
12 | g.51915265G= | CA2036269431 | ACVRL1 | c.543G= (p.Thr181=) c.813G= (p.Thr271=) c.291G= (p.Thr97=) c.855G= (p.Thr285=) c.24G= (p.Thr8=) | |
12 | g.51915265G>T | CA480063154 | ACVRL1 | c.543G>T (p.Thr181=) c.813G>T (p.Thr271=) c.291G>T (p.Thr97=) c.855G>T (p.Thr285=) c.24G>T (p.Thr8=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915266C>A | CA384900421 | ACVRL1 | c.544C>A (p.Gln182Lys) c.814C>A (p.Gln272Lys) c.292C>A (p.Gln98Lys) c.856C>A (p.Gln286Lys) c.25C>A (p.Gln9Lys) | |
12 | g.51915266C>G | CA384900419 | ACVRL1 | c.544C>G (p.Gln182Glu) c.814C>G (p.Gln272Glu) c.292C>G (p.Gln98Glu) c.856C>G (p.Gln286Glu) c.25C>G (p.Gln9Glu) | |
12 | g.51915266C>T | CA384900420 | ACVRL1 | c.544C>T (p.Gln182Ter) c.814C>T (p.Gln272Ter) c.292C>T (p.Gln98Ter) c.856C>T (p.Gln286Ter) c.25C>T (p.Gln9Ter) | |
12 | g.51915267A>C | CA384900422 | ACVRL1 | c.545A>C (p.Gln182Pro) c.815A>C (p.Gln272Pro) c.293A>C (p.Gln98Pro) c.857A>C (p.Gln286Pro) c.26A>C (p.Gln9Pro) | |
12 | g.51915267A>G | CA384900423 | ACVRL1 | c.545A>G (p.Gln182Arg) c.815A>G (p.Gln272Arg) c.293A>G (p.Gln98Arg) c.857A>G (p.Gln286Arg) c.26A>G (p.Gln9Arg) | |
12 | g.51915267A>T | CA384900424 | ACVRL1 | c.545A>T (p.Gln182Leu) c.815A>T (p.Gln272Leu) c.293A>T (p.Gln98Leu) c.857A>T (p.Gln286Leu) c.26A>T (p.Gln9Leu) | |
12 | g.51915268G>A | CA480063155 | ACVRL1 | c.546G>A (p.Gln182=) c.816G>A (p.Gln272=) c.294G>A (p.Gln98=) c.858G>A (p.Gln286=) c.27G>A (p.Gln9=) | |
12 | g.51915268G>C | CA384900425 | ACVRL1 | c.546G>C (p.Gln182His) c.816G>C (p.Gln272His) c.294G>C (p.Gln98His) c.858G>C (p.Gln286His) c.27G>C (p.Gln9His) | |
12 | g.51915268G>T | CA384900427 | ACVRL1 | c.546G>T (p.Gln182His) c.816G>T (p.Gln272His) c.294G>T (p.Gln98His) c.858G>T (p.Gln286His) c.27G>T (p.Gln9His) | |
12 | g.51915269C>A | CA384900429 | ACVRL1 | c.547C>A (p.Leu183Met) c.817C>A (p.Leu273Met) c.295C>A (p.Leu99Met) c.859C>A (p.Leu287Met) c.28C>A (p.Leu10Met) | |
12 | g.51915269C= | CA2036269432 | ACVRL1 | c.547C= (p.Leu183=) c.817C= (p.Leu273=) c.295C= (p.Leu99=) c.859C= (p.Leu287=) c.28C= (p.Leu10=) | |
12 | g.51915269C>G | CA384900431 | ACVRL1 | c.547C>G (p.Leu183Val) c.817C>G (p.Leu273Val) c.295C>G (p.Leu99Val) c.859C>G (p.Leu287Val) c.28C>G (p.Leu10Val) | |
12 | g.51915269C>T | CA6573001 | ACVRL1 | c.547C>T (p.Leu183=) c.817C>T (p.Leu273=) c.295C>T (p.Leu99=) c.859C>T (p.Leu287=) c.28C>T (p.Leu10=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915270T>A | CA384900436 | ACVRL1 | c.548T>A (p.Leu183Gln) c.818T>A (p.Leu273Gln) c.296T>A (p.Leu99Gln) c.860T>A (p.Leu287Gln) c.29T>A (p.Leu10Gln) | |
12 | g.51915270T>C | CA384900434 | ACVRL1 | c.548T>C (p.Leu183Pro) c.818T>C (p.Leu273Pro) c.296T>C (p.Leu99Pro) c.860T>C (p.Leu287Pro) c.29T>C (p.Leu10Pro) | ClinVar dbSNP gnomAD v4 |
12 | g.51915270T>G | CA384900433 | ACVRL1 | c.548T>G (p.Leu183Arg) c.818T>G (p.Leu273Arg) c.296T>G (p.Leu99Arg) c.860T>G (p.Leu287Arg) c.29T>G (p.Leu10Arg) | |
12 | g.51915270T= | CA2036269433 | ACVRL1 | c.548T= (p.Leu183=) c.818T= (p.Leu273=) c.296T= (p.Leu99=) c.860T= (p.Leu287=) c.29T= (p.Leu10=) | |
12 | g.51915271G>A | CA480063156 | ACVRL1 | c.549G>A (p.Leu183=) c.819G>A (p.Leu273=) c.297G>A (p.Leu99=) c.861G>A (p.Leu287=) c.30G>A (p.Leu10=) | |
12 | g.51915271G>C | CA480063157 | ACVRL1 | c.549G>C (p.Leu183=) c.819G>C (p.Leu273=) c.297G>C (p.Leu99=) c.861G>C (p.Leu287=) c.30G>C (p.Leu10=) | |
12 | g.51915271G>T | CA480063158 | ACVRL1 | c.549G>T (p.Leu183=) c.819G>T (p.Leu273=) c.297G>T (p.Leu99=) c.861G>T (p.Leu287=) c.30G>T (p.Leu10=) | |
12 | g.51915272T>A | CA384900438 | ACVRL1 | c.550T>A (p.Trp184Arg) c.820T>A (p.Trp274Arg) c.298T>A (p.Trp100Arg) c.862T>A (p.Trp288Arg) c.31T>A (p.Trp11Arg) | |
12 | g.51915272T>C | CA384900439 | ACVRL1 | c.550T>C (p.Trp184Arg) c.820T>C (p.Trp274Arg) c.298T>C (p.Trp100Arg) c.862T>C (p.Trp288Arg) c.31T>C (p.Trp11Arg) | ClinVar |
12 | g.51915272T>G | CA384900441 | ACVRL1 | c.550T>G (p.Trp184Gly) c.820T>G (p.Trp274Gly) c.298T>G (p.Trp100Gly) c.862T>G (p.Trp288Gly) c.31T>G (p.Trp11Gly) | |
12 | g.51915273_51915276dup | CA2695216739 | ACVRL1 | c.551_554dup (p.Ile186AlafsTer?) c.821_824dup (p.Ile276AlafsTer?) c.299_302dup (p.Ile102AlafsTer?) c.863_866dup (p.Ile290AlafsTer?) c.32_35dup (p.Ile13AlafsTer?) | |
12 | g.51915273G>A | CA384900443 | ACVRL1 | c.551G>A (p.Trp184Ter) c.821G>A (p.Trp274Ter) c.299G>A (p.Trp100Ter) c.863G>A (p.Trp288Ter) c.32G>A (p.Trp11Ter) | |
12 | g.51915273G>C | CA384900445 | ACVRL1 | c.551G>C (p.Trp184Ser) c.821G>C (p.Trp274Ser) c.299G>C (p.Trp100Ser) c.863G>C (p.Trp288Ser) c.32G>C (p.Trp11Ser) | |
12 | g.51915273G>T | CA384900446 | ACVRL1 | c.551G>T (p.Trp184Leu) c.821G>T (p.Trp274Leu) c.299G>T (p.Trp100Leu) c.863G>T (p.Trp288Leu) c.32G>T (p.Trp11Leu) | COSMIC COSMIC |
12 | g.51915274G>A | CA6573002 | ACVRL1 | c.552G>A (p.Trp184Ter) c.822G>A (p.Trp274Ter) c.300G>A (p.Trp100Ter) c.864G>A (p.Trp288Ter) c.33G>A (p.Trp11Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51915274G>C | CA384900449 | ACVRL1 | c.552G>C (p.Trp184Cys) c.822G>C (p.Trp274Cys) c.300G>C (p.Trp100Cys) c.864G>C (p.Trp288Cys) c.33G>C (p.Trp11Cys) | |
12 | g.51915274G= | CA2036269434 | ACVRL1 | c.552G= (p.Trp184=) c.822G= (p.Trp274=) c.300G= (p.Trp100=) c.864G= (p.Trp288=) c.33G= (p.Trp11=) | |
12 | g.51915274G>T | CA384900451 | ACVRL1 | c.552G>T (p.Trp184Cys) c.822G>T (p.Trp274Cys) c.300G>T (p.Trp100Cys) c.864G>T (p.Trp288Cys) c.33G>T (p.Trp11Cys) | ClinVar dbSNP |
12 | g.51915275C>A | CA6573003 | ACVRL1 | c.553C>A (p.Leu185Ile) c.823C>A (p.Leu275Ile) c.301C>A (p.Leu101Ile) c.865C>A (p.Leu289Ile) c.34C>A (p.Leu12Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51915275C= | CA2036269435 | ACVRL1 | c.553C= (p.Leu185=) c.823C= (p.Leu275=) c.301C= (p.Leu101=) c.865C= (p.Leu289=) c.34C= (p.Leu12=) | |
12 | g.51915275C>G | CA384900453 | ACVRL1 | c.553C>G (p.Leu185Val) c.823C>G (p.Leu275Val) c.301C>G (p.Leu101Val) c.865C>G (p.Leu289Val) c.34C>G (p.Leu12Val) | |
12 | g.51915275C>T | CA384900455 | ACVRL1 | c.553C>T (p.Leu185Phe) c.823C>T (p.Leu275Phe) c.301C>T (p.Leu101Phe) c.865C>T (p.Leu289Phe) c.34C>T (p.Leu12Phe) | |
12 | g.51915276T>A | CA384900457 | ACVRL1 | c.554T>A (p.Leu185His) c.824T>A (p.Leu275His) c.302T>A (p.Leu101His) c.866T>A (p.Leu289His) c.35T>A (p.Leu12His) | |
12 | g.51915276T>C | CA384900458 | ACVRL1 | c.554T>C (p.Leu185Pro) c.824T>C (p.Leu275Pro) c.302T>C (p.Leu101Pro) c.866T>C (p.Leu289Pro) c.35T>C (p.Leu12Pro) | ClinVar |
12 | g.51915276T>G | CA384900456 | ACVRL1 | c.554T>G (p.Leu185Arg) c.824T>G (p.Leu275Arg) c.302T>G (p.Leu101Arg) c.866T>G (p.Leu289Arg) c.35T>G (p.Leu12Arg) | |
12 | g.51915277C>A | CA480063159 | ACVRL1 | c.555C>A (p.Leu185=) c.825C>A (p.Leu275=) c.303C>A (p.Leu101=) c.867C>A (p.Leu289=) c.36C>A (p.Leu12=) | |
12 | g.51915277C= | CA2036269436 | ACVRL1 | c.555C= (p.Leu185=) c.825C= (p.Leu275=) c.303C= (p.Leu101=) c.867C= (p.Leu289=) c.36C= (p.Leu12=) | |
12 | g.51915277C>G | CA480063160 | ACVRL1 | c.555C>G (p.Leu185=) c.825C>G (p.Leu275=) c.303C>G (p.Leu101=) c.867C>G (p.Leu289=) c.36C>G (p.Leu12=) | |
12 | g.51915277C>T | CA480063161 | ACVRL1 | c.555C>T (p.Leu185=) c.825C>T (p.Leu275=) c.303C>T (p.Leu101=) c.867C>T (p.Leu289=) c.36C>T (p.Leu12=) | dbSNP |
12 | g.51915278A= | CA2036269437 | ACVRL1 | c.556A= (p.Ile186=) c.826A= (p.Ile276=) c.304A= (p.Ile102=) c.868A= (p.Ile290=) c.37A= (p.Ile13=) | |
12 | g.51915278A>C | CA236363985 | ACVRL1 | c.556A>C (p.Ile186Leu) c.826A>C (p.Ile276Leu) c.304A>C (p.Ile102Leu) c.868A>C (p.Ile290Leu) c.37A>C (p.Ile13Leu) | dbSNP |
12 | g.51915278A>G | CA384900460 | ACVRL1 | c.556A>G (p.Ile186Val) c.826A>G (p.Ile276Val) c.304A>G (p.Ile102Val) c.868A>G (p.Ile290Val) c.37A>G (p.Ile13Val) | |
12 | g.51915278A>T | CA384900461 | ACVRL1 | c.556A>T (p.Ile186Phe) c.826A>T (p.Ile276Phe) c.304A>T (p.Ile102Phe) c.868A>T (p.Ile290Phe) c.37A>T (p.Ile13Phe) | |
12 | g.51915279T>A | CA384900463 | ACVRL1 | c.557T>A (p.Ile186Asn) c.827T>A (p.Ile276Asn) c.305T>A (p.Ile102Asn) c.869T>A (p.Ile290Asn) c.38T>A (p.Ile13Asn) | |
12 | g.51915279T>C | CA384900465 | ACVRL1 | c.557T>C (p.Ile186Thr) c.827T>C (p.Ile276Thr) c.305T>C (p.Ile102Thr) c.869T>C (p.Ile290Thr) c.38T>C (p.Ile13Thr) | |
12 | g.51915279T>G | CA384900467 | ACVRL1 | c.557T>G (p.Ile186Ser) c.827T>G (p.Ile276Ser) c.305T>G (p.Ile102Ser) c.869T>G (p.Ile290Ser) c.38T>G (p.Ile13Ser) | |
12 | g.51915280C>A | CA480063162 | ACVRL1 | c.558C>A (p.Ile186=) c.828C>A (p.Ile276=) c.306C>A (p.Ile102=) c.870C>A (p.Ile290=) c.39C>A (p.Ile13=) | |
12 | g.51915280C= | CA2036269438 | ACVRL1 | c.558C= (p.Ile186=) c.828C= (p.Ile276=) c.306C= (p.Ile102=) c.870C= (p.Ile290=) c.39C= (p.Ile13=) | |
12 | g.51915280C>G | CA384900468 | ACVRL1 | c.558C>G (p.Ile186Met) c.828C>G (p.Ile276Met) c.306C>G (p.Ile102Met) c.870C>G (p.Ile290Met) c.39C>G (p.Ile13Met) | |
12 | g.51915280C>T | CA236363986 | ACVRL1 | c.558C>T (p.Ile186=) c.828C>T (p.Ile276=) c.306C>T (p.Ile102=) c.870C>T (p.Ile290=) c.39C>T (p.Ile13=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.51915281A= | CA2036269439 | ACVRL1 | c.559A= (p.Thr187=) c.829A= (p.Thr277=) c.307A= (p.Thr103=) c.871A= (p.Thr291=) c.40A= (p.Thr14=) | |
12 | g.51915281A>C | CA384900469 | ACVRL1 | c.559A>C (p.Thr187Pro) c.829A>C (p.Thr277Pro) c.307A>C (p.Thr103Pro) c.871A>C (p.Thr291Pro) c.40A>C (p.Thr14Pro) | |
12 | g.51915281A>G | CA236363987 | ACVRL1 | c.559A>G (p.Thr187Ala) c.829A>G (p.Thr277Ala) c.307A>G (p.Thr103Ala) c.871A>G (p.Thr291Ala) c.40A>G (p.Thr14Ala) | dbSNP gnomAD v4 |
12 | g.51915281A>T | CA384900471 | ACVRL1 | c.559A>T (p.Thr187Ser) c.829A>T (p.Thr277Ser) c.307A>T (p.Thr103Ser) c.871A>T (p.Thr291Ser) c.40A>T (p.Thr14Ser) | |
12 | g.51915282C>A | CA384900472 | ACVRL1 | c.560C>A (p.Thr187Lys) c.830C>A (p.Thr277Lys) c.308C>A (p.Thr103Lys) c.872C>A (p.Thr291Lys) c.41C>A (p.Thr14Lys) | ClinVar dbSNP |
12 | g.51915282C= | CA2036269440 | ACVRL1 | c.560C= (p.Thr187=) c.830C= (p.Thr277=) c.308C= (p.Thr103=) c.872C= (p.Thr291=) c.41C= (p.Thr14=) | |
12 | g.51915282C>G | CA384900474 | ACVRL1 | c.560C>G (p.Thr187Arg) c.830C>G (p.Thr277Arg) c.308C>G (p.Thr103Arg) c.872C>G (p.Thr291Arg) c.41C>G (p.Thr14Arg) | ClinVar dbSNP |
12 | g.51915282C>T | CA6573004 | ACVRL1 | c.560C>T (p.Thr187Met) c.830C>T (p.Thr277Met) c.308C>T (p.Thr103Met) c.872C>T (p.Thr291Met) c.41C>T (p.Thr14Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51915283G>A | CA236363998 | ACVRL1 | c.561G>A (p.Thr187=) c.831G>A (p.Thr277=) c.309G>A (p.Thr103=) c.873G>A (p.Thr291=) c.42G>A (p.Thr14=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915283G>C | CA480063163 | ACVRL1 | c.561G>C (p.Thr187=) c.831G>C (p.Thr277=) c.309G>C (p.Thr103=) c.873G>C (p.Thr291=) c.42G>C (p.Thr14=) | |
12 | g.51915283G= | CA2036269441 | ACVRL1 | c.561G= (p.Thr187=) c.831G= (p.Thr277=) c.309G= (p.Thr103=) c.873G= (p.Thr291=) c.42G= (p.Thr14=) | |
12 | g.51915283G>T | CA480063164 | ACVRL1 | c.561G>T (p.Thr187=) c.831G>T (p.Thr277=) c.309G>T (p.Thr103=) c.873G>T (p.Thr291=) c.42G>T (p.Thr14=) | COSMIC COSMIC |
12 | g.51915284C>A | CA384900480 | ACVRL1 | c.562C>A (p.His188Asn) c.832C>A (p.His278Asn) c.310C>A (p.His104Asn) c.874C>A (p.His292Asn) c.43C>A (p.His15Asn) | gnomAD v4 |
12 | g.51915284C>G | CA384900478 | ACVRL1 | c.562C>G (p.His188Asp) c.832C>G (p.His278Asp) c.310C>G (p.His104Asp) c.874C>G (p.His292Asp) c.43C>G (p.His15Asp) | |
12 | g.51915284C>T | CA384900476 | ACVRL1 | c.562C>T (p.His188Tyr) c.832C>T (p.His278Tyr) c.310C>T (p.His104Tyr) c.874C>T (p.His292Tyr) c.43C>T (p.His15Tyr) | |
12 | g.51915285A>C | CA384900482 | ACVRL1 | c.563A>C (p.His188Pro) c.833A>C (p.His278Pro) c.311A>C (p.His104Pro) c.875A>C (p.His292Pro) c.44A>C (p.His15Pro) | gnomAD v4 |
12 | g.51915285A>G | CA384900484 | ACVRL1 | c.563A>G (p.His188Arg) c.833A>G (p.His278Arg) c.311A>G (p.His104Arg) c.875A>G (p.His292Arg) c.44A>G (p.His15Arg) | |
12 | g.51915285A>T | CA384900485 | ACVRL1 | c.563A>T (p.His188Leu) c.833A>T (p.His278Leu) c.311A>T (p.His104Leu) c.875A>T (p.His292Leu) c.44A>T (p.His15Leu) | |
12 | g.51915287_51915289dup | CA2580086476 | ACVRL1 | c.565_567dup (p.Tyr189_His190insTyr) c.835_837dup (p.Tyr279_His280insTyr) c.313_315dup (p.Tyr105_His106insTyr) c.877_879dup (p.Tyr293_His294insTyr) c.46_48dup (p.Tyr16_His17insTyr) | ClinVar |
12 | g.51915286C>A | CA384900487 | ACVRL1 | c.564C>A (p.His188Gln) c.834C>A (p.His278Gln) c.312C>A (p.His104Gln) c.876C>A (p.His292Gln) c.45C>A (p.His15Gln) | |
12 | g.51915286C= | CA2036269442 | ACVRL1 | c.564C= (p.His188=) c.834C= (p.His278=) c.312C= (p.His104=) c.876C= (p.His292=) c.45C= (p.His15=) | |
12 | g.51915286C>G | CA384900488 | ACVRL1 | c.564C>G (p.His188Gln) c.834C>G (p.His278Gln) c.312C>G (p.His104Gln) c.876C>G (p.His292Gln) c.45C>G (p.His15Gln) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51915286C>T | CA236364003 | ACVRL1 | c.564C>T (p.His188=) c.834C>T (p.His278=) c.312C>T (p.His104=) c.876C>T (p.His292=) c.45C>T (p.His15=) | dbSNP |
12 | g.51915287T>A | CA384900489 | ACVRL1 | c.565T>A (p.Tyr189Asn) c.835T>A (p.Tyr279Asn) c.313T>A (p.Tyr105Asn) c.877T>A (p.Tyr293Asn) c.46T>A (p.Tyr16Asn) | |
12 | g.51915287T>C | CA384900490 | ACVRL1 | c.565T>C (p.Tyr189His) c.835T>C (p.Tyr279His) c.313T>C (p.Tyr105His) c.877T>C (p.Tyr293His) c.46T>C (p.Tyr16His) | |
12 | g.51915287T>G | CA384900491 | ACVRL1 | c.565T>G (p.Tyr189Asp) c.835T>G (p.Tyr279Asp) c.313T>G (p.Tyr105Asp) c.877T>G (p.Tyr293Asp) c.46T>G (p.Tyr16Asp) | |
12 | g.51915288A= | CA2036269443 | ACVRL1 | c.566A= (p.Tyr189=) c.836A= (p.Tyr279=) c.314A= (p.Tyr105=) c.878A= (p.Tyr293=) c.47A= (p.Tyr16=) | |
12 | g.51915288A>C | CA384900492 | ACVRL1 | c.566A>C (p.Tyr189Ser) c.836A>C (p.Tyr279Ser) c.314A>C (p.Tyr105Ser) c.878A>C (p.Tyr293Ser) c.47A>C (p.Tyr16Ser) | |
12 | g.51915288A>G | CA384900494 | ACVRL1 | c.566A>G (p.Tyr189Cys) c.836A>G (p.Tyr279Cys) c.314A>G (p.Tyr105Cys) c.878A>G (p.Tyr293Cys) c.47A>G (p.Tyr16Cys) | dbSNP |
12 | g.51915288A>T | CA384900495 | ACVRL1 | c.566A>T (p.Tyr189Phe) c.836A>T (p.Tyr279Phe) c.314A>T (p.Tyr105Phe) c.878A>T (p.Tyr293Phe) c.47A>T (p.Tyr16Phe) | |
12 | g.51915290_51915298dup | CA2695216740 | ACVRL1 | c.568_576dup (p.His192_Gly193insHisGluHis) c.838_846dup (p.His282_Gly283insHisGluHis) c.316_324dup (p.His108_Gly109insHisGluHis) c.880_888dup (p.His296_Gly297insHisGluHis) c.49_57dup (p.His19_Gly20insHisGluHis) | |
12 | g.51915289C>A | CA384900497 | ACVRL1 | c.567C>A (p.Tyr189Ter) c.837C>A (p.Tyr279Ter) c.315C>A (p.Tyr105Ter) c.879C>A (p.Tyr293Ter) c.48C>A (p.Tyr16Ter) | |
12 | g.51915289C>G | CA384900498 | ACVRL1 | c.567C>G (p.Tyr189Ter) c.837C>G (p.Tyr279Ter) c.315C>G (p.Tyr105Ter) c.879C>G (p.Tyr293Ter) c.48C>G (p.Tyr16Ter) | |
12 | g.51915289C>T | CA480063165 | ACVRL1 | c.567C>T (p.Tyr189=) c.837C>T (p.Tyr279=) c.315C>T (p.Tyr105=) c.879C>T (p.Tyr293=) c.48C>T (p.Tyr16=) | gnomAD v4 |
12 | g.51915290C>A | CA384900502 | ACVRL1 | c.568C>A (p.His190Asn) c.838C>A (p.His280Asn) c.316C>A (p.His106Asn) c.880C>A (p.His294Asn) c.49C>A (p.His17Asn) | |
12 | g.51915290C= | CA2036269444 | ACVRL1 | c.568C= (p.His190=) c.838C= (p.His280=) c.316C= (p.His106=) c.880C= (p.His294=) c.49C= (p.His17=) | |
12 | g.51915290C>G | CA384900504 | ACVRL1 | c.568C>G (p.His190Asp) c.838C>G (p.His280Asp) c.316C>G (p.His106Asp) c.880C>G (p.His294Asp) c.49C>G (p.His17Asp) | |
12 | g.51915290C>T | CA384900500 | ACVRL1 | c.568C>T (p.His190Tyr) c.838C>T (p.His280Tyr) c.316C>T (p.His106Tyr) c.880C>T (p.His294Tyr) c.49C>T (p.His17Tyr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51915290_51915294del | CA2580086477 | ACVRL1 | c.568_572del (p.His190AlafsTer?) c.838_842del (p.His280AlafsTer?) c.316_320del (p.His106AlafsTer?) c.880_884del (p.His294AlafsTer?) c.49_53del (p.His17AlafsTer?) | ClinVar |
12 | g.51915291A>C | CA384900507 | ACVRL1 | c.569A>C (p.His190Pro) c.839A>C (p.His280Pro) c.317A>C (p.His106Pro) c.881A>C (p.His294Pro) c.50A>C (p.His17Pro) | |
12 | g.51915291A>G | CA384900505 | ACVRL1 | c.569A>G (p.His190Arg) c.839A>G (p.His280Arg) c.317A>G (p.His106Arg) c.881A>G (p.His294Arg) c.50A>G (p.His17Arg) | ClinVar |
12 | g.51915291A>T | CA384900509 | ACVRL1 | c.569A>T (p.His190Leu) c.839A>T (p.His280Leu) c.317A>T (p.His106Leu) c.881A>T (p.His294Leu) c.50A>T (p.His17Leu) | |
12 | g.51915292C>A | CA384900510 | ACVRL1 | c.570C>A (p.His190Gln) c.840C>A (p.His280Gln) c.318C>A (p.His106Gln) c.882C>A (p.His294Gln) c.51C>A (p.His17Gln) | |
12 | g.51915292C= | CA2036269445 | ACVRL1 | c.570C= (p.His190=) c.840C= (p.His280=) c.318C= (p.His106=) c.882C= (p.His294=) c.51C= (p.His17=) | |
12 | g.51915292C>G | CA384900513 | ACVRL1 | c.570C>G (p.His190Gln) c.840C>G (p.His280Gln) c.318C>G (p.His106Gln) c.882C>G (p.His294Gln) c.51C>G (p.His17Gln) | |
12 | g.51915292C>T | CA6573005 | ACVRL1 | c.570C>T (p.His190=) c.840C>T (p.His280=) c.318C>T (p.His106=) c.882C>T (p.His294=) c.51C>T (p.His17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51915293G>A | CA6573006 | ACVRL1 | c.571G>A (p.Glu191Lys) c.841G>A (p.Glu281Lys) c.319G>A (p.Glu107Lys) c.883G>A (p.Glu295Lys) c.52G>A (p.Glu18Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51915293G>C | CA384900515 | ACVRL1 | c.571G>C (p.Glu191Gln) c.841G>C (p.Glu281Gln) c.319G>C (p.Glu107Gln) c.883G>C (p.Glu295Gln) c.52G>C (p.Glu18Gln) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51915293G= | CA2036269446 | ACVRL1 | c.571G= (p.Glu191=) c.841G= (p.Glu281=) c.319G= (p.Glu107=) c.883G= (p.Glu295=) c.52G= (p.Glu18=) | |
12 | g.51915293G>T | CA16613819 | ACVRL1 | c.571G>T (p.Glu191Ter) c.841G>T (p.Glu281Ter) c.319G>T (p.Glu107Ter) c.883G>T (p.Glu295Ter) c.52G>T (p.Glu18Ter) | ClinVar dbSNP gnomAD v4 |