Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51912441T>C | CA6572765 | ACVRL1 | c.9T>C (p.Leu3=) c.-5-29T>C (n.-5-29T>C) c.-34T>C (n.-34T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51912441T= | CA2036266172 | ACVRL1 | c.9T= (p.Leu3=) c.-5-29T= (n.-5-29T=) c.-34T= (n.-34T=) | |
12 | g.51912442A>C | CA384896143 | ACVRL1 | c.10A>C (p.Thr4Pro) c.-5-28A>C (n.-5-28A>C) c.-33A>C (n.-33A>C) | gnomAD v4 |
12 | g.51912442A>G | CA384896146 | ACVRL1 | c.10A>G (p.Thr4Ala) c.-5-28A>G (n.-5-28A>G) c.-33A>G (n.-33A>G) | |
12 | g.51912442A>T | CA384896147 | ACVRL1 | c.10A>T (p.Thr4Ser) c.-5-28A>T (n.-5-28A>T) c.-33A>T (n.-33A>T) | |
12 | g.51912443C>A | CA384896155 | ACVRL1 | c.11C>A (p.Thr4Asn) c.-5-27C>A (n.-5-27C>A) c.-32C>A (n.-32C>A) | |
12 | g.51912443C= | CA2036266175 | ACVRL1 | c.11C= (p.Thr4=) c.-5-27C= (n.-5-27C=) c.-32C= (n.-32C=) | |
12 | g.51912443C>G | CA384896151 | ACVRL1 | c.11C>G (p.Thr4Ser) c.-5-27C>G (n.-5-27C>G) c.-32C>G (n.-32C>G) | |
12 | g.51912443C>T | CA6572766 | ACVRL1 | c.11C>T (p.Thr4Ile) c.-5-27C>T (n.-5-27C>T) c.-32C>T (n.-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912444T>G | CA2618855864 | ACVRL1 | c.12T>G (p.Thr4=) c.-5-26T>G (n.-5-26T>G) c.-31T>G (n.-31T>G) | gnomAD v4 |
12 | g.51912445C>A | CA6572768 | ACVRL1 | c.13C>A (p.Pro5Thr) c.-5-25C>A (n.-5-25C>A) c.-30C>A (n.-30C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51912445C= | CA2036266180 | ACVRL1 | c.13C= (p.Pro5=) c.-5-25C= (n.-5-25C=) c.-30C= (n.-30C=) | |
12 | g.51912445C>G | CA384896162 | ACVRL1 | c.13C>G (p.Pro5Ala) c.-5-25C>G (n.-5-25C>G) c.-30C>G (n.-30C>G) | |
12 | g.51912445C>T | CA6572767 | ACVRL1 | c.13C>T (p.Pro5Ser) c.-5-25C>T (n.-5-25C>T) c.-30C>T (n.-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51912446C>A | CA384896166 | ACVRL1 | c.14C>A (p.Pro5Gln) c.-5-24C>A (n.-5-24C>A) c.-29C>A (n.-29C>A) | COSMIC |
12 | g.51912446C= | CA2036266186 | ACVRL1 | c.14C= (p.Pro5=) c.-5-24C= (n.-5-24C=) c.-29C= (n.-29C=) | |
12 | g.51912446C>G | CA384896168 | ACVRL1 | c.14C>G (p.Pro5Arg) c.-5-24C>G (n.-5-24C>G) c.-29C>G (n.-29C>G) | |
12 | g.51912446C>T | CA384896170 | ACVRL1 | c.14C>T (p.Pro5Leu) c.-5-24C>T (n.-5-24C>T) c.-29C>T (n.-29C>T) | dbSNP gnomAD v4 |
12 | g.51912447A= | CA2036266188 | ACVRL1 | c.15A= (p.Pro5=) c.-5-23A= (n.-5-23A=) c.-28A= (n.-28A=) | |
12 | g.51912447A>C | CA2036266189 | ACVRL1 | c.15A>C (p.Pro5=) c.-5-23A>C (n.-5-23A>C) c.-28A>C (n.-28A>C) | dbSNP |
12 | g.51912448C>A | CA384896172 | ACVRL1 | c.16C>A (p.Pro6Thr) c.-5-22C>A (n.-5-22C>A) c.-27C>A (n.-27C>A) | |
12 | g.51912448C= | CA2036266191 | ACVRL1 | c.16C= (p.Pro6=) c.-5-22C= (n.-5-22C=) c.-27C= (n.-27C=) | |
12 | g.51912448C>G | CA384896175 | ACVRL1 | c.16C>G (p.Pro6Ala) c.-5-22C>G (n.-5-22C>G) c.-27C>G (n.-27C>G) | |
12 | g.51912448C>T | CA6572769 | ACVRL1 | c.16C>T (p.Pro6Ser) c.-5-22C>T (n.-5-22C>T) c.-27C>T (n.-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51912449C>A | CA384896187 | ACVRL1 | c.17C>A (p.Pro6His) c.-5-21C>A (n.-5-21C>A) c.-26C>A (n.-26C>A) | |
12 | g.51912449C= | CA2036266194 | ACVRL1 | c.17C= (p.Pro6=) c.-5-21C= (n.-5-21C=) c.-26C= (n.-26C=) | |
12 | g.51912449C>G | CA384896188 | ACVRL1 | c.17C>G (p.Pro6Arg) c.-5-21C>G (n.-5-21C>G) c.-26C>G (n.-26C>G) | |
12 | g.51912449C>T | CA384896189 | ACVRL1 | c.17C>T (p.Pro6Leu) c.-5-21C>T (n.-5-21C>T) c.-26C>T (n.-26C>T) | dbSNP |
12 | g.51912451C>A | CA384896193 | ACVRL1 | c.19C>A (p.Leu7Ile) c.-5-19C>A (n.-5-19C>A) c.-24C>A (n.-24C>A) | |
12 | g.51912451C>G | CA384896192 | ACVRL1 | c.19C>G (p.Leu7Val) c.-5-19C>G (n.-5-19C>G) c.-24C>G (n.-24C>G) | |
12 | g.51912451C>T | CA384896191 | ACVRL1 | c.19C>T (p.Leu7Phe) c.-5-19C>T (n.-5-19C>T) c.-24C>T (n.-24C>T) | |
12 | g.51912452T>A | CA384896198 | ACVRL1 | c.20T>A (p.Leu7His) c.-5-18T>A (n.-5-18T>A) c.-23T>A (n.-23T>A) | |
12 | g.51912452T>C | CA384896195 | ACVRL1 | c.20T>C (p.Leu7Pro) c.-5-18T>C (n.-5-18T>C) c.-23T>C (n.-23T>C) | |
12 | g.51912452T>G | CA384896197 | ACVRL1 | c.20T>G (p.Leu7Arg) c.-5-18T>G (n.-5-18T>G) c.-23T>G (n.-23T>G) | |
12 | g.51912453C= | CA2036266197 | ACVRL1 | c.21C= (p.Leu7=) c.-5-17C= (n.-5-17C=) c.-22C= (n.-22C=) | |
12 | g.51912453C>T | CA6572770 | ACVRL1 | c.21C>T (p.Leu7=) c.-5-17C>T (n.-5-17C>T) c.-22C>T (n.-22C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912454T>A | CA384896211 | ACVRL1 | c.22T>A (p.Leu8Met) c.-5-16T>A (n.-5-16T>A) c.-21T>A (n.-21T>A) | |
12 | g.51912454T>G | CA384896213 | ACVRL1 | c.22T>G (p.Leu8Val) c.-5-16T>G (n.-5-16T>G) c.-21T>G (n.-21T>G) | |
12 | g.51912455T>A | CA384896224 | ACVRL1 | c.23T>A (p.Leu8Ter) c.-5-15T>A (n.-5-15T>A) c.-20T>A (n.-20T>A) | |
12 | g.51912455T>C | CA384896222 | ACVRL1 | c.23T>C (p.Leu8Ser) c.-5-15T>C (n.-5-15T>C) c.-20T>C (n.-20T>C) | |
12 | g.51912455T>G | CA384896215 | ACVRL1 | c.23T>G (p.Leu8Trp) c.-5-15T>G (n.-5-15T>G) c.-20T>G (n.-20T>G) | |
12 | g.51912456G>C | CA384896226 | ACVRL1 | c.24G>C (p.Leu8Phe) c.-5-14G>C (n.-5-14G>C) c.-19G>C (n.-19G>C) | gnomAD v4 |
12 | g.51912456G>T | CA384896237 | ACVRL1 | c.24G>T (p.Leu8Phe) c.-5-14G>T (n.-5-14G>T) c.-19G>T (n.-19G>T) | |
12 | g.51912456_51912457delinsGC | CA2036266199 | ACVRL1 | c.24_25delinsGC (p.Leu8=) c.-5-14_-5-13delinsGC (n.-5-14_-5-13delinsGC) c.-19_-18delinsGC (n.-19_-18delinsGC) | |
12 | g.51912456_51912460del | CA2618855882 | ACVRL1 | c.24_28del (p.Leu8PhefsTer?) c.-5-14_-5-10del (n.-5-14_-5-10del) c.-19_-15del (n.-19_-15del) | gnomAD v4 |
12 | g.51912457del | CA6572771 | ACVRL1 | c.25del (p.Leu9SerfsTer7) c.-5-13del (n.-5-13del) c.-18del (n.-18del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.51912457C>A | CA384896239 | ACVRL1 | c.25C>A (p.Leu9Ile) c.-5-13C>A (n.-5-13C>A) c.-18C>A (n.-18C>A) | |
12 | g.51912457C>G | CA384896242 | ACVRL1 | c.25C>G (p.Leu9Val) c.-5-13C>G (n.-5-13C>G) c.-18C>G (n.-18C>G) | |
12 | g.51912457C>T | CA384896247 | ACVRL1 | c.25C>T (p.Leu9Phe) c.-5-13C>T (n.-5-13C>T) c.-18C>T (n.-18C>T) | |
12 | g.51912458T>A | CA384896256 | ACVRL1 | c.26T>A (p.Leu9His) c.-5-12T>A (n.-5-12T>A) c.-17T>A (n.-17T>A) | gnomAD v4 |
12 | g.51912458T>C | CA384896251 | ACVRL1 | c.26T>C (p.Leu9Pro) c.-5-12T>C (n.-5-12T>C) c.-17T>C (n.-17T>C) | gnomAD v4 |
12 | g.51912458T>G | CA6572772 | ACVRL1 | c.26T>G (p.Leu9Arg) c.-5-12T>G (n.-5-12T>G) c.-17T>G (n.-17T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912458T= | CA2036266204 | ACVRL1 | c.26T= (p.Leu9=) c.-5-12T= (n.-5-12T=) c.-17T= (n.-17T=) | |
12 | g.51912459C>T | CA2575161268 | ACVRL1 | c.27C>T (p.Leu9=) c.-5-11C>T (n.-5-11C>T) c.-16C>T (n.-16C>T) | gnomAD v4 |
12 | g.51912460C>A | CA384896260 | ACVRL1 | c.28C>A (p.Leu10Ile) c.-5-10C>A (n.-5-10C>A) c.-15C>A (n.-15C>A) | |
12 | g.51912460C= | CA2036266210 | ACVRL1 | c.28C= (p.Leu10=) c.-5-10C= (n.-5-10C=) c.-15C= (n.-15C=) | |
12 | g.51912460C>G | CA384896261 | ACVRL1 | c.28C>G (p.Leu10Val) c.-5-10C>G (n.-5-10C>G) c.-15C>G (n.-15C>G) | |
12 | g.51912460C>T | CA6572773 | ACVRL1 | c.28C>T (p.Leu10Phe) c.-5-10C>T (n.-5-10C>T) c.-15C>T (n.-15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912461T>A | CA384896267 | ACVRL1 | c.29T>A (p.Leu10His) c.-5-9T>A (n.-5-9T>A) c.-14T>A (n.-14T>A) | |
12 | g.51912461T>C | CA384896270 | ACVRL1 | c.29T>C (p.Leu10Pro) c.-5-9T>C (n.-5-9T>C) c.-14T>C (n.-14T>C) | |
12 | g.51912461T>G | CA384896274 | ACVRL1 | c.29T>G (p.Leu10Arg) c.-5-9T>G (n.-5-9T>G) c.-14T>G (n.-14T>G) | |
12 | g.51912462C= | CA2036266213 | ACVRL1 | c.30C= (p.Leu10=) c.-5-8C= (n.-5-8C=) c.-13C= (n.-13C=) | |
12 | g.51912462C>T | CA2036266214 | ACVRL1 | c.30C>T (p.Leu10=) c.-5-8C>T (n.-5-8C>T) c.-13C>T (n.-13C>T) | dbSNP gnomAD v4 |
12 | g.51912463T>A | CA384896277 | ACVRL1 | c.31T>A (p.Ser11Thr) c.-5-7T>A (n.-5-7T>A) c.-12T>A (n.-12T>A) | |
12 | g.51912463T>C | CA384896280 | ACVRL1 | c.31T>C (p.Ser11Pro) c.-5-7T>C (n.-5-7T>C) c.-12T>C (n.-12T>C) | gnomAD v4 |
12 | g.51912463T>G | CA6572774 | ACVRL1 | c.31T>G (p.Ser11Ala) c.-5-7T>G (n.-5-7T>G) c.-12T>G (n.-12T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51912463T= | CA2036266219 | ACVRL1 | c.31T= (p.Ser11=) c.-5-7T= (n.-5-7T=) c.-12T= (n.-12T=) | |
12 | g.51912464C>A | CA384896284 | ACVRL1 | c.32C>A (p.Ser11Tyr) c.-5-6C>A (n.-5-6C>A) c.-11C>A (n.-11C>A) | |
12 | g.51912464C>G | CA384896285 | ACVRL1 | c.32C>G (p.Ser11Cys) c.-5-6C>G (n.-5-6C>G) c.-11C>G (n.-11C>G) | |
12 | g.51912464C>T | CA384896286 | ACVRL1 | c.32C>T (p.Ser11Phe) c.-5-6C>T (n.-5-6C>T) c.-11C>T (n.-11C>T) | |
12 | g.51912465T>C | CA6572775 | ACVRL1 | c.33T>C (p.Ser11=) c.-5-5T>C (n.-5-5T>C) c.-10T>C (n.-10T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51912465T= | CA2036266222 | ACVRL1 | c.33T= (p.Ser11=) c.-5-5T= (n.-5-5T=) c.-10T= (n.-10T=) | |
12 | g.51912466G>A | CA384896288 | ACVRL1 | c.34G>A (p.Ala12Thr) c.-5-4G>A (n.-5-4G>A) c.-9G>A (n.-9G>A) | gnomAD v4 |
12 | g.51912466G>C | CA384896291 | ACVRL1 | c.34G>C (p.Ala12Pro) c.-5-4G>C (n.-5-4G>C) c.-9G>C (n.-9G>C) | |
12 | g.51912466G>T | CA384896290 | ACVRL1 | c.34G>T (p.Ala12Ser) c.-5-4G>T (n.-5-4G>T) c.-9G>T (n.-9G>T) | |
12 | g.51912467C>A | CA384896292 | ACVRL1 | c.35C>A (p.Ala12Glu) c.-5-3C>A (n.-5-3C>A) c.-8C>A (n.-8C>A) | |
12 | g.51912467C>G | CA384896293 | ACVRL1 | c.35C>G (p.Ala12Gly) c.-5-3C>G (n.-5-3C>G) c.-8C>G (n.-8C>G) | |
12 | g.51912467C>T | CA384896294 | ACVRL1 | c.35C>T (p.Ala12Val) c.-5-3C>T (n.-5-3C>T) c.-8C>T (n.-8C>T) | |
12 | g.51912469G>A | CA384896295 | ACVRL1 | c.37G>A (p.Gly13Arg) c.-5-1G>A (n.-5-1G>A) c.-6G>A (n.-6G>A) | |
12 | g.51912469G>C | CA384896298 | ACVRL1 | c.37G>C (p.Gly13Arg) c.-5-1G>C (n.-5-1G>C) c.-6G>C (n.-6G>C) | |
12 | g.51912469G>T | CA384896302 | ACVRL1 | c.37G>T (p.Gly13Trp) c.-5-1G>T (n.-5-1G>T) c.-6G>T (n.-6G>T) | |
12 | g.51912470G>A | CA384896305 | ACVRL1 | c.38G>A (p.Gly13Glu) c.-5G>A (n.-5G>A) | dbSNP |
12 | g.51912470G>C | CA384896309 | ACVRL1 | c.38G>C (p.Gly13Ala) c.-5G>C (n.-5G>C) | |
12 | g.51912470G= | CA2036266225 | ACVRL1 | c.38G= (p.Gly13=) c.-5G= (n.-5G=) | |
12 | g.51912470G>T | CA384896312 | ACVRL1 | c.38G>T (p.Gly13Val) c.-5G>T (n.-5G>T) | |
12 | g.51912471G= | CA2036266232 | ACVRL1 | c.39G= (p.Gly13=) c.-4G= (n.-4G=) | |
12 | g.51912471G>T | CA6572776 | ACVRL1 | c.39G>T (p.Gly13=) c.-4G>T (n.-4G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912472A>C | CA384896320 | ACVRL1 | c.40A>C (p.Thr14Pro) c.-3A>C (n.-3A>C) | |
12 | g.51912472A>G | CA384896321 | ACVRL1 | c.40A>G (p.Thr14Ala) c.-3A>G (n.-3A>G) | |
12 | g.51912472A>T | CA384896324 | ACVRL1 | c.40A>T (p.Thr14Ser) c.-3A>T (n.-3A>T) | gnomAD v4 |
12 | g.51912473C>A | CA384896335 | ACVRL1 | c.41C>A (p.Thr14Asn) c.-2C>A (n.-2C>A) | |
12 | g.51912473C>G | CA384896326 | ACVRL1 | c.41C>G (p.Thr14Ser) c.-2C>G (n.-2C>G) | |
12 | g.51912473C>T | CA384896329 | ACVRL1 | c.41C>T (p.Thr14Ile) c.-2C>T (n.-2C>T) | |
12 | g.51912475A>C | CA384896338 | ACVRL1 | c.43A>C (p.Met15Leu) c.1A>C (p.Met1Leu) | |
12 | g.51912475A>G | CA384896340 | ACVRL1 | c.43A>G (p.Met15Val) c.1A>G (p.Met1Val) | |
12 | g.51912475A>T | CA384896343 | ACVRL1 | c.43A>T (p.Met15Leu) c.1A>T (p.Met1Leu) | |
12 | g.51912476T>A | CA384896347 | ACVRL1 | c.44T>A (p.Met15Lys) c.2T>A (p.Met1Lys) | |
12 | g.51912476T>C | CA384896351 | ACVRL1 | c.44T>C (p.Met15Thr) c.2T>C (p.Met1Thr) | gnomAD v4 |
12 | g.51912476T>G | CA384896352 | ACVRL1 | c.44T>G (p.Met15Arg) c.2T>G (p.Met1Arg) | |
12 | g.51912477G>A | CA384896354 | ACVRL1 | c.45G>A (p.Met15Ile) c.3G>A (p.Met1Ile) | |
12 | g.51912477G>C | CA384896356 | ACVRL1 | c.45G>C (p.Met15Ile) c.3G>C (p.Met1Ile) | |
12 | g.51912477G>T | CA384896357 | ACVRL1 | c.45G>T (p.Met15Ile) c.3G>T (p.Met1Ile) | |
12 | g.51912478A>C | CA384896360 | ACVRL1 | c.46A>C (p.Thr16Pro) c.4A>C (p.Thr2Pro) | |
12 | g.51912478A>G | CA384896368 | ACVRL1 | c.46A>G (p.Thr16Ala) c.4A>G (p.Thr2Ala) | |
12 | g.51912478A>T | CA384896369 | ACVRL1 | c.46A>T (p.Thr16Ser) c.4A>T (p.Thr2Ser) | |
12 | g.51912479C>A | CA384896371 | ACVRL1 | c.47C>A (p.Thr16Asn) c.5C>A (p.Thr2Asn) | |
12 | g.51912479C= | CA2036266238 | ACVRL1 | c.47C= (p.Thr16=) c.5C= (p.Thr2=) | |
12 | g.51912479C>G | CA384896373 | ACVRL1 | c.47C>G (p.Thr16Ser) c.5C>G (p.Thr2Ser) | |
12 | g.51912479C>T | CA6572777 | ACVRL1 | c.47C>T (p.Thr16Ile) c.5C>T (p.Thr2Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912480C>A | CA479804292 | ACVRL1 | c.48C>A (p.Thr16=) c.6C>A (p.Thr2=) | |
12 | g.51912480C= | CA2036266243 | ACVRL1 | c.48C= (p.Thr16=) c.6C= (p.Thr2=) | |
12 | g.51912480C>G | CA479804293 | ACVRL1 | c.48C>G (p.Thr16=) c.6C>G (p.Thr2=) | |
12 | g.51912480C>T | CA479804294 | ACVRL1 | c.48C>T (p.Thr16=) c.6C>T (p.Thr2=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51912481T>A | CA384896376 | ACVRL1 | c.49T>A (p.Leu17Met) c.7T>A (p.Leu3Met) | |
12 | g.51912481T>C | CA479804295 | ACVRL1 | c.49T>C (p.Leu17=) c.7T>C (p.Leu3=) | gnomAD v4 |
12 | g.51912481T>G | CA384896377 | ACVRL1 | c.49T>G (p.Leu17Val) c.7T>G (p.Leu3Val) | |
12 | g.51912482T>A | CA384896381 | ACVRL1 | c.50T>A (p.Leu17Ter) c.8T>A (p.Leu3Ter) | |
12 | g.51912482T>C | CA384896384 | ACVRL1 | c.50T>C (p.Leu17Ser) c.8T>C (p.Leu3Ser) | |
12 | g.51912482T>G | CA384896387 | ACVRL1 | c.50T>G (p.Leu17Trp) c.8T>G (p.Leu3Trp) | |
12 | g.51912483G>A | CA6572778 | ACVRL1 | c.51G>A (p.Leu17=) c.9G>A (p.Leu3=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912483G>C | CA384896393 | ACVRL1 | c.51G>C (p.Leu17Phe) c.9G>C (p.Leu3Phe) | |
12 | g.51912483G= | CA2036266249 | ACVRL1 | c.51G= (p.Leu17=) c.9G= (p.Leu3=) | |
12 | g.51912483G>T | CA6572779 | ACVRL1 | c.51G>T (p.Leu17Phe) c.9G>T (p.Leu3Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51912485del | CA2695216658 | ACVRL1 | c.53del (p.Gly18AlafsTer8) c.11del (p.Gly4AlafsTer8) | |
12 | g.51912484G>A | CA384896397 | ACVRL1 | c.52G>A (p.Gly18Ser) c.10G>A (p.Gly4Ser) | |
12 | g.51912484G>C | CA384896399 | ACVRL1 | c.52G>C (p.Gly18Arg) c.10G>C (p.Gly4Arg) | |
12 | g.51912484G>T | CA384896402 | ACVRL1 | c.52G>T (p.Gly18Cys) c.10G>T (p.Gly4Cys) | |
12 | g.51912485G>A | CA384896403 | ACVRL1 | c.53G>A (p.Gly18Asp) c.11G>A (p.Gly4Asp) | COSMIC COSMIC |
12 | g.51912485G>C | CA384896404 | ACVRL1 | c.53G>C (p.Gly18Ala) c.11G>C (p.Gly4Ala) | |
12 | g.51912485G>T | CA384896405 | ACVRL1 | c.53G>T (p.Gly18Val) c.11G>T (p.Gly4Val) | |
12 | g.51912486C>A | CA479804302 | ACVRL1 | c.54C>A (p.Gly18=) c.12C>A (p.Gly4=) | gnomAD v4 |
12 | g.51912486C= | CA2036266254 | ACVRL1 | c.54C= (p.Gly18=) c.12C= (p.Gly4=) | |
12 | g.51912486C>G | CA479804303 | ACVRL1 | c.54C>G (p.Gly18=) c.12C>G (p.Gly4=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51912486C>T | CA479804304 | ACVRL1 | c.54C>T (p.Gly18=) c.12C>T (p.Gly4=) | dbSNP |
12 | g.51912487T>A | CA384896410 | ACVRL1 | c.55T>A (p.Ser19Thr) c.13T>A (p.Ser5Thr) | |
12 | g.51912487T>C | CA384896408 | ACVRL1 | c.55T>C (p.Ser19Pro) c.13T>C (p.Ser5Pro) | |
12 | g.51912487T>G | CA384896406 | ACVRL1 | c.55T>G (p.Ser19Ala) c.13T>G (p.Ser5Ala) | |
12 | g.51912488C>A | CA384896411 | ACVRL1 | c.56C>A (p.Ser19Tyr) c.14C>A (p.Ser5Tyr) | |
12 | g.51912488C>G | CA384896413 | ACVRL1 | c.56C>G (p.Ser19Cys) c.14C>G (p.Ser5Cys) | |
12 | g.51912488C>T | CA384896416 | ACVRL1 | c.56C>T (p.Ser19Phe) c.14C>T (p.Ser5Phe) | gnomAD v4 |
12 | g.51912492dup | CA2580086416 | ACVRL1 | c.60dup (p.Arg21GlnfsTer?) c.18dup (p.Arg7GlnfsTer?) c.60dup (p.Arg21GlnfsTer30) | ClinVar |
12 | g.51912492del | CA479804306 | ACVRL1 | c.60del (p.Arg21GlyfsTer5) c.18del (p.Arg7GlyfsTer5) | COSMIC COSMIC COSMIC |
12 | g.51912489C>A | CA479804307 | ACVRL1 | c.57C>A (p.Ser19=) c.15C>A (p.Ser5=) | |
12 | g.51912489C= | CA2036266258 | ACVRL1 | c.57C= (p.Ser19=) c.15C= (p.Ser5=) | |
12 | g.51912489C>G | CA479804308 | ACVRL1 | c.57C>G (p.Ser19=) c.15C>G (p.Ser5=) | |
12 | g.51912489C>T | CA6572780 | ACVRL1 | c.57C>T (p.Ser19=) c.15C>T (p.Ser5=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912490C>A | CA384896421 | ACVRL1 | c.58C>A (p.Pro20Thr) c.16C>A (p.Pro6Thr) | |
12 | g.51912490C>G | CA384896423 | ACVRL1 | c.58C>G (p.Pro20Ala) c.16C>G (p.Pro6Ala) | |
12 | g.51912490C>T | CA384896424 | ACVRL1 | c.58C>T (p.Pro20Ser) c.16C>T (p.Pro6Ser) | |
12 | g.51912491C>A | CA384896426 | ACVRL1 | c.59C>A (p.Pro20His) c.17C>A (p.Pro6His) | |
12 | g.51912491C= | CA2036266261 | ACVRL1 | c.59C= (p.Pro20=) c.17C= (p.Pro6=) | |
12 | g.51912491C>G | CA384896428 | ACVRL1 | c.59C>G (p.Pro20Arg) c.17C>G (p.Pro6Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51912491C>T | CA384896430 | ACVRL1 | c.59C>T (p.Pro20Leu) c.17C>T (p.Pro6Leu) | |
12 | g.51912492C>A | CA479804310 | ACVRL1 | c.60C>A (p.Pro20=) c.18C>A (p.Pro6=) | |
12 | g.51912492C= | CA2036266265 | ACVRL1 | c.60C= (p.Pro20=) c.18C= (p.Pro6=) | |
12 | g.51912492C>G | CA6572781 | ACVRL1 | c.60C>G (p.Pro20=) c.18C>G (p.Pro6=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912492C>T | CA6572782 | ACVRL1 | c.60C>T (p.Pro20=) c.18C>T (p.Pro6=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51912493A>C | CA479804311 | ACVRL1 | c.61A>C (p.Arg21=) c.19A>C (p.Arg7=) | |
12 | g.51912493A>G | CA384896437 | ACVRL1 | c.61A>G (p.Arg21Gly) c.19A>G (p.Arg7Gly) | gnomAD v4 |
12 | g.51912493A>T | CA384896439 | ACVRL1 | c.61A>T (p.Arg21Trp) c.19A>T (p.Arg7Trp) | |
12 | g.51912494G>A | CA384896445 | ACVRL1 | c.62G>A (p.Arg21Lys) c.20G>A (p.Arg7Lys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51912494G>C | CA384896449 | ACVRL1 | c.62G>C (p.Arg21Thr) c.20G>C (p.Arg7Thr) | |
12 | g.51912494G= | CA2036266269 | ACVRL1 | c.62G= (p.Arg21=) c.20G= (p.Arg7=) | |
12 | g.51912494G>T | CA384896442 | ACVRL1 | c.62G>T (p.Arg21Met) c.20G>T (p.Arg7Met) | |
12 | g.51912495G>A | CA479804313 | ACVRL1 | c.63G>A (p.Arg21=) c.21G>A (p.Arg7=) | |
12 | g.51912495G>C | CA384896452 | ACVRL1 | c.63G>C (p.Arg21Ser) c.21G>C (p.Arg7Ser) | |
12 | g.51912495G>T | CA384896457 | ACVRL1 | c.63G>T (p.Arg21Ser) c.21G>T (p.Arg7Ser) | |
12 | g.51912496A>C | CA384896460 | ACVRL1 | c.64A>C (p.Lys22Gln) c.22A>C (p.Lys8Gln) | |
12 | g.51912496A>G | CA384896466 | ACVRL1 | c.64A>G (p.Lys22Glu) c.22A>G (p.Lys8Glu) | dbSNP |
12 | g.51912496A>T | CA384896468 | ACVRL1 | c.64A>T (p.Lys22Ter) c.22A>T (p.Lys8Ter) | |
12 | g.51912497A= | CA2036266273 | ACVRL1 | c.65A= (p.Lys22=) c.23A= (p.Lys8=) | |
12 | g.51912497A>C | CA6572783 | ACVRL1 | c.65A>C (p.Lys22Thr) c.23A>C (p.Lys8Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51912497A>G | CA384896471 | ACVRL1 | c.65A>G (p.Lys22Arg) c.23A>G (p.Lys8Arg) | |
12 | g.51912497A>T | CA384896470 | ACVRL1 | c.65A>T (p.Lys22Ile) c.23A>T (p.Lys8Ile) | |
12 | g.51912498A= | CA2036266277 | ACVRL1 | c.66A= (p.Lys22=) c.24A= (p.Lys8=) | |
12 | g.51912498A>C | CA384896475 | ACVRL1 | c.66A>C (p.Lys22Asn) c.24A>C (p.Lys8Asn) | |
12 | g.51912498A>G | CA6572784 | ACVRL1 | c.66A>G (p.Lys22=) c.24A>G (p.Lys8=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912498A>T | CA384896478 | ACVRL1 | c.66A>T (p.Lys22Asn) c.24A>T (p.Lys8Asn) | |
12 | g.51912499G>A | CA384896490 | ACVRL1 | c.67G>A (p.Gly23Ser) c.25G>A (p.Gly9Ser) | |
12 | g.51912499G>C | CA384896493 | ACVRL1 | c.67G>C (p.Gly23Arg) c.25G>C (p.Gly9Arg) | COSMIC |
12 | g.51912499G>T | CA384896500 | ACVRL1 | c.67G>T (p.Gly23Cys) c.25G>T (p.Gly9Cys) | |
12 | g.51912505_51912524del | CA913185028 | ACVRL1 | c.73_92del (p.Leu25GlyfsTer20) c.31_50del (p.Leu11GlyfsTer20) c.73_92del (p.Leu25GlyfsTer19) | |
12 | g.51912500G>A | CA384896504 | ACVRL1 | c.68G>A (p.Gly23Asp) c.26G>A (p.Gly9Asp) | gnomAD v4 |
12 | g.51912500G>C | CA384896515 | ACVRL1 | c.68G>C (p.Gly23Ala) c.26G>C (p.Gly9Ala) | |
12 | g.51912500G>T | CA384896514 | ACVRL1 | c.68G>T (p.Gly23Val) c.26G>T (p.Gly9Val) | gnomAD v4 |
12 | g.51912501C>A | CA479804318 | ACVRL1 | c.69C>A (p.Gly23=) c.27C>A (p.Gly9=) | gnomAD v4 |
12 | g.51912501C>G | CA479804319 | ACVRL1 | c.69C>G (p.Gly23=) c.27C>G (p.Gly9=) | |
12 | g.51912501C>T | CA479804321 | ACVRL1 | c.69C>T (p.Gly23=) c.27C>T (p.Gly9=) | |
12 | g.51912502C>A | CA384896516 | ACVRL1 | c.70C>A (p.Leu24Ile) c.28C>A (p.Leu10Ile) | |
12 | g.51912502C>G | CA384896517 | ACVRL1 | c.70C>G (p.Leu24Val) c.28C>G (p.Leu10Val) | |
12 | g.51912502C>T | CA384896519 | ACVRL1 | c.70C>T (p.Leu24Phe) c.28C>T (p.Leu10Phe) | |
12 | g.51912503T>A | CA384896522 | ACVRL1 | c.71T>A (p.Leu24His) c.29T>A (p.Leu10His) | |
12 | g.51912503T>C | CA384896526 | ACVRL1 | c.71T>C (p.Leu24Pro) c.29T>C (p.Leu10Pro) | |
12 | g.51912503T>G | CA384896529 | ACVRL1 | c.71T>G (p.Leu24Arg) c.29T>G (p.Leu10Arg) | |
12 | g.51912504T>A | CA479804323 | ACVRL1 | c.72T>A (p.Leu24=) c.30T>A (p.Leu10=) | |
12 | g.51912504T>C | CA479804325 | ACVRL1 | c.72T>C (p.Leu24=) c.30T>C (p.Leu10=) | |
12 | g.51912504T>G | CA479804327 | ACVRL1 | c.72T>G (p.Leu24=) c.30T>G (p.Leu10=) | |
12 | g.51912505C>A | CA384896537 | ACVRL1 | c.73C>A (p.Leu25Met) c.31C>A (p.Leu11Met) | |
12 | g.51912505C>G | CA384896539 | ACVRL1 | c.73C>G (p.Leu25Val) c.31C>G (p.Leu11Val) | |
12 | g.51912505C>T | CA479804328 | ACVRL1 | c.73C>T (p.Leu25=) c.31C>T (p.Leu11=) | |
12 | g.51912506T>A | CA384896540 | ACVRL1 | c.74T>A (p.Leu25Gln) c.32T>A (p.Leu11Gln) | |
12 | g.51912506T>C | CA384896541 | ACVRL1 | c.74T>C (p.Leu25Pro) c.32T>C (p.Leu11Pro) | |
12 | g.51912506T>G | CA6572785 | ACVRL1 | c.74T>G (p.Leu25Arg) c.32T>G (p.Leu11Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51912506T= | CA2036266281 | ACVRL1 | c.74T= (p.Leu25=) c.32T= (p.Leu11=) | |
12 | g.51912507G>A | CA479804329 | ACVRL1 | c.75G>A (p.Leu25=) c.33G>A (p.Leu11=) | |
12 | g.51912507G>C | CA479804330 | ACVRL1 | c.75G>C (p.Leu25=) c.33G>C (p.Leu11=) | |
12 | g.51912507G>T | CA479804331 | ACVRL1 | c.75G>T (p.Leu25=) c.33G>T (p.Leu11=) | |
12 | g.51912508A>C | CA384896545 | ACVRL1 | c.76A>C (p.Met26Leu) c.34A>C (p.Met12Leu) | |
12 | g.51912508A>G | CA384896551 | ACVRL1 | c.76A>G (p.Met26Val) c.34A>G (p.Met12Val) | |
12 | g.51912508A>T | CA384896546 | ACVRL1 | c.76A>T (p.Met26Leu) c.34A>T (p.Met12Leu) | |
12 | g.51912509T>A | CA384896554 | ACVRL1 | c.77T>A (p.Met26Lys) c.35T>A (p.Met12Lys) | |
12 | g.51912509T>C | CA384896568 | ACVRL1 | c.77T>C (p.Met26Thr) c.35T>C (p.Met12Thr) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51912509T>G | CA384896566 | ACVRL1 | c.77T>G (p.Met26Arg) c.35T>G (p.Met12Arg) | |
12 | g.51912509T= | CA2036266284 | ACVRL1 | c.77T= (p.Met26=) c.35T= (p.Met12=) | |
12 | g.51912510G>A | CA384896570 | ACVRL1 | c.78G>A (p.Met26Ile) c.36G>A (p.Met12Ile) | |
12 | g.51912510G>C | CA6572786 | ACVRL1 | c.78G>C (p.Met26Ile) c.36G>C (p.Met12Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51912510G= | CA2036266289 | ACVRL1 | c.78G= (p.Met26=) c.36G= (p.Met12=) | |
12 | g.51912510G>T | CA384896574 | ACVRL1 | c.78G>T (p.Met26Ile) c.36G>T (p.Met12Ile) | |
12 | g.51912510_51912511delinsGC | CA2036266291 | ACVRL1 | c.78_79delinsGC (p.Met26=) c.36_37delinsGC (p.Met12=) | |
12 | g.51912511del | CA645293883 | ACVRL1 | c.79del (p.Leu27CysfsTer2) c.37del (p.Leu13CysfsTer2) | ClinVar dbSNP |
12 | g.51912511C>A | CA384896576 | ACVRL1 | c.79C>A (p.Leu27Met) c.37C>A (p.Leu13Met) | |
12 | g.51912511C>G | CA384896579 | ACVRL1 | c.79C>G (p.Leu27Val) c.37C>G (p.Leu13Val) | |
12 | g.51912511C>T | CA479804336 | ACVRL1 | c.79C>T (p.Leu27=) c.37C>T (p.Leu13=) | |
12 | g.51912512T>A | CA384896584 | ACVRL1 | c.80T>A (p.Leu27Gln) c.38T>A (p.Leu13Gln) | |
12 | g.51912512T>C | CA384896589 | ACVRL1 | c.80T>C (p.Leu27Pro) c.38T>C (p.Leu13Pro) | |
12 | g.51912512T>G | CA384896594 | ACVRL1 | c.80T>G (p.Leu27Arg) c.38T>G (p.Leu13Arg) | |
12 | g.51912513G>A | CA479804338 | ACVRL1 | c.81G>A (p.Leu27=) c.39G>A (p.Leu13=) | gnomAD v4 |
12 | g.51912513G>C | CA479804340 | ACVRL1 | c.81G>C (p.Leu27=) c.39G>C (p.Leu13=) | |
12 | g.51912513G>T | CA479804342 | ACVRL1 | c.81G>T (p.Leu27=) c.39G>T (p.Leu13=) | |
12 | g.51912514C>A | CA384896596 | ACVRL1 | c.82C>A (p.Leu28Met) c.40C>A (p.Leu14Met) | |
12 | g.51912514C= | CA2036266302 | ACVRL1 | c.82C= (p.Leu28=) c.40C= (p.Leu14=) | |
12 | g.51912514C>G | CA384896600 | ACVRL1 | c.82C>G (p.Leu28Val) c.40C>G (p.Leu14Val) | |
12 | g.51912514C>T | CA479804343 | ACVRL1 | c.82C>T (p.Leu28=) c.40C>T (p.Leu14=) | dbSNP gnomAD v4 |
12 | g.51912515T>A | CA384896605 | ACVRL1 | c.83T>A (p.Leu28Gln) c.41T>A (p.Leu14Gln) | |
12 | g.51912515T>C | CA384896607 | ACVRL1 | c.83T>C (p.Leu28Pro) c.41T>C (p.Leu14Pro) | |
12 | g.51912515T>G | CA384896615 | ACVRL1 | c.83T>G (p.Leu28Arg) c.41T>G (p.Leu14Arg) | |
12 | g.51912515dup | CA16614035 | ACVRL1 | c.83dup (p.Met29AspfsTer23) c.41dup (p.Met15AspfsTer23) c.83dup (p.Met29AspfsTer22) | ClinVar dbSNP |
12 | g.51912516G>A | CA479804346 | ACVRL1 | c.84G>A (p.Leu28=) c.42G>A (p.Leu14=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51912516G>C | CA479804345 | ACVRL1 | c.84G>C (p.Leu28=) c.42G>C (p.Leu14=) | ClinVar |
12 | g.51912516G= | CA2036266309 | ACVRL1 | c.84G= (p.Leu28=) c.42G= (p.Leu14=) | |
12 | g.51912516G>T | CA479804344 | ACVRL1 | c.84G>T (p.Leu28=) c.42G>T (p.Leu14=) | gnomAD v4 |
12 | g.51912517A>C | CA384896619 | ACVRL1 | c.85A>C (p.Met29Leu) c.43A>C (p.Met15Leu) | |
12 | g.51912517A>G | CA384896624 | ACVRL1 | c.85A>G (p.Met29Val) c.43A>G (p.Met15Val) | |
12 | g.51912517A>T | CA384896622 | ACVRL1 | c.85A>T (p.Met29Leu) c.43A>T (p.Met15Leu) | |
12 | g.51912518T>A | CA384896626 | ACVRL1 | c.86T>A (p.Met29Lys) c.44T>A (p.Met15Lys) | |
12 | g.51912518T>C | CA384896630 | ACVRL1 | c.86T>C (p.Met29Thr) c.44T>C (p.Met15Thr) | gnomAD v4 |
12 | g.51912518T>G | CA384896634 | ACVRL1 | c.86T>G (p.Met29Arg) c.44T>G (p.Met15Arg) | |
12 | g.51912519G>A | CA384896637 | ACVRL1 | c.87G>A (p.Met29Ile) c.45G>A (p.Met15Ile) | |
12 | g.51912519G>C | CA384896639 | ACVRL1 | c.87G>C (p.Met29Ile) c.45G>C (p.Met15Ile) | |
12 | g.51912519G>T | CA384896643 | ACVRL1 | c.87G>T (p.Met29Ile) c.45G>T (p.Met15Ile) | |
12 | g.51912520G>A | CA384896653 | ACVRL1 | c.88G>A (p.Ala30Thr) c.46G>A (p.Ala16Thr) | |
12 | g.51912520G>C | CA384896659 | ACVRL1 | c.88G>C (p.Ala30Pro) c.46G>C (p.Ala16Pro) | |
12 | g.51912520G>T | CA384896661 | ACVRL1 | c.88G>T (p.Ala30Ser) c.46G>T (p.Ala16Ser) | |
12 | g.51912521C>A | CA384896669 | ACVRL1 | c.89C>A (p.Ala30Asp) c.47C>A (p.Ala16Asp) | |
12 | g.51912521C= | CA2036266311 | ACVRL1 | c.89C= (p.Ala30=) c.47C= (p.Ala16=) | |
12 | g.51912521C>G | CA6572787 | ACVRL1 | c.89C>G (p.Ala30Gly) c.47C>G (p.Ala16Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51912521C>T | CA384896664 | ACVRL1 | c.89C>T (p.Ala30Val) c.47C>T (p.Ala16Val) | |
12 | g.51912522C>A | CA479804352 | ACVRL1 | c.90C>A (p.Ala30=) c.48C>A (p.Ala16=) | |
12 | g.51912522C= | CA2036266314 | ACVRL1 | c.90C= (p.Ala30=) c.48C= (p.Ala16=) | |
12 | g.51912522C>G | CA479804354 | ACVRL1 | c.90C>G (p.Ala30=) c.48C>G (p.Ala16=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51912522C>T | CA479804353 | ACVRL1 | c.90C>T (p.Ala30=) c.48C>T (p.Ala16=) | |
12 | g.51912523T>A | CA384896670 | ACVRL1 | c.91T>A (p.Leu31Met) c.49T>A (p.Leu17Met) | |
12 | g.51912523T>C | CA236361368 | ACVRL1 | c.91T>C (p.Leu31=) c.49T>C (p.Leu17=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912523T>G | CA384896671 | ACVRL1 | c.91T>G (p.Leu31Val) c.49T>G (p.Leu17Val) | |
12 | g.51912523T= | CA2036266318 | ACVRL1 | c.91T= (p.Leu31=) c.49T= (p.Leu17=) | |
12 | g.51912524dup | CA2573148771 | ACVRL1 | c.92dup (p.Leu31PhefsTer21) c.50dup (p.Leu17PhefsTer21) c.92dup (p.Leu31PhefsTer20) | ClinVar dbSNP |
12 | g.51912524_51912527del | CA2695216659 | ACVRL1 | c.92_95del (p.Leu31Ter) c.50_53del (p.Leu17Ter) | |
12 | g.51912524T>A | CA384896672 | ACVRL1 | c.92T>A (p.Leu31Ter) c.50T>A (p.Leu17Ter) | |
12 | g.51912524T>C | CA384896673 | ACVRL1 | c.92T>C (p.Leu31Ser) c.50T>C (p.Leu17Ser) | |
12 | g.51912524T>G | CA384896677 | ACVRL1 | c.92T>G (p.Leu31Trp) c.50T>G (p.Leu17Trp) | |
12 | g.51912525G>A | CA479804356 | ACVRL1 | c.93G>A (p.Leu31=) c.51G>A (p.Leu17=) | dbSNP gnomAD v4 |
12 | g.51912525G>C | CA384896681 | ACVRL1 | c.93G>C (p.Leu31Phe) c.51G>C (p.Leu17Phe) | |
12 | g.51912525G= | CA2036266320 | ACVRL1 | c.93G= (p.Leu31=) c.51G= (p.Leu17=) | |
12 | g.51912525G>T | CA236361381 | ACVRL1 | c.93G>T (p.Leu31Phe) c.51G>T (p.Leu17Phe) | |
12 | g.51912526G>A | CA6572788 | ACVRL1 | c.94G>A (p.Val32Met) c.52G>A (p.Val18Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912526G>C | CA384896688 | ACVRL1 | c.94G>C (p.Val32Leu) c.52G>C (p.Val18Leu) | |
12 | g.51912526G= | CA2036266323 | ACVRL1 | c.94G= (p.Val32=) c.52G= (p.Val18=) | |
12 | g.51912526G>T | CA384896694 | ACVRL1 | c.94G>T (p.Val32Leu) c.52G>T (p.Val18Leu) | |
12 | g.51912527T>A | CA384896698 | ACVRL1 | c.95T>A (p.Val32Glu) c.53T>A (p.Val18Glu) | |
12 | g.51912527T>C | CA384896701 | ACVRL1 | c.95T>C (p.Val32Ala) c.53T>C (p.Val18Ala) | |
12 | g.51912527T>G | CA384896712 | ACVRL1 | c.95T>G (p.Val32Gly) c.53T>G (p.Val18Gly) | |
12 | g.51912528G>A | CA479804359 | ACVRL1 | c.96G>A (p.Val32=) c.54G>A (p.Val18=) | |
12 | g.51912528G>C | CA479804360 | ACVRL1 | c.96G>C (p.Val32=) c.54G>C (p.Val18=) | |
12 | g.51912528G>T | CA479804361 | ACVRL1 | c.96G>T (p.Val32=) c.54G>T (p.Val18=) | |
12 | g.51912529A>C | CA384896721 | ACVRL1 | c.97A>C (p.Thr33Pro) c.55A>C (p.Thr19Pro) | |
12 | g.51912529A>G | CA384896716 | ACVRL1 | c.97A>G (p.Thr33Ala) c.55A>G (p.Thr19Ala) | |
12 | g.51912529A>T | CA384896718 | ACVRL1 | c.97A>T (p.Thr33Ser) c.55A>T (p.Thr19Ser) | |
12 | g.51912529dup | CA2582341783 | ACVRL1 | c.97dup (p.Thr33AsnfsTer19) c.55dup (p.Thr19AsnfsTer19) c.97dup (p.Thr33AsnfsTer18) | ClinVar |
12 | g.51912530C>A | CA384896724 | ACVRL1 | c.98C>A (p.Thr33Asn) c.56C>A (p.Thr19Asn) | |
12 | g.51912530C>G | CA384896726 | ACVRL1 | c.98C>G (p.Thr33Ser) c.56C>G (p.Thr19Ser) | gnomAD v4 |
12 | g.51912530C>T | CA384896730 | ACVRL1 | c.98C>T (p.Thr33Ile) c.56C>T (p.Thr19Ile) | |
12 | g.51912532del | CA2618856032 | ACVRL1 | c.100del (p.Gln34ArgfsTer5) c.58del (p.Gln20ArgfsTer5) c.100del (p.Gln34ArgfsTer?) | gnomAD v4 |
12 | g.51912531C>A | CA479804362 | ACVRL1 | c.99C>A (p.Thr33=) c.57C>A (p.Thr19=) | |
12 | g.51912531C>G | CA479804363 | ACVRL1 | c.99C>G (p.Thr33=) c.57C>G (p.Thr19=) | |
12 | g.51912531C>T | CA479804364 | ACVRL1 | c.99C>T (p.Thr33=) c.57C>T (p.Thr19=) | gnomAD v4 |
12 | g.51912532C>A | CA384896733 | ACVRL1 | c.100C>A (p.Gln34Lys) c.58C>A (p.Gln20Lys) | |
12 | g.51912532C= | CA2036266327 | ACVRL1 | c.100C= (p.Gln34=) c.58C= (p.Gln20=) | |
12 | g.51912532C>G | CA384896739 | ACVRL1 | c.100C>G (p.Gln34Glu) c.58C>G (p.Gln20Glu) | gnomAD v4 |
12 | g.51912532C>T | CA384896740 | ACVRL1 | c.100C>T (p.Gln34Ter) c.58C>T (p.Gln20Ter) | ClinVar dbSNP |
12 | g.51912533A>C | CA384896743 | ACVRL1 | c.101A>C (p.Gln34Pro) c.59A>C (p.Gln20Pro) | |
12 | g.51912533A>G | CA384896744 | ACVRL1 | c.101A>G (p.Gln34Arg) c.59A>G (p.Gln20Arg) | |
12 | g.51912533A>T | CA384896745 | ACVRL1 | c.101A>T (p.Gln34Leu) c.59A>T (p.Gln20Leu) | |
12 | g.51912534G>A | CA479804367 | ACVRL1 | c.102G>A (p.Gln34=) c.60G>A (p.Gln20=) | |
12 | g.51912534G>C | CA384896746 | ACVRL1 | c.102G>C (p.Gln34His) c.60G>C (p.Gln20His) | |
12 | g.51912534G>T | CA384896747 | ACVRL1 | c.102G>T (p.Gln34His) c.60G>T (p.Gln20His) | |
12 | g.51912534_51912535insTACTCACCCTG | CA2618856035 | ACVRL1 | c.102_103insTACTCACCCTG (p.Gly35TyrfsTer8) c.60_61insTACTCACCCTG (p.Gly21TyrfsTer8) c.102_103insTACTCACCCTG (p.Gly35TyrfsTer?) | gnomAD v4 |
12 | g.51912535G>A | CA384896750 | ACVRL1 | c.103G>A (p.Gly35Arg) c.61G>A (p.Gly21Arg) | |
12 | g.51912535G>C | CA384896758 | ACVRL1 | c.103G>C (p.Gly35Arg) c.61G>C (p.Gly21Arg) | |
12 | g.51912535G>T | CA384896754 | ACVRL1 | c.103G>T (p.Gly35Ter) c.61G>T (p.Gly21Ter) | |
12 | g.51912536G>A | CA6572789 | ACVRL1 | c.103+1G>A (n.103+1G>A) c.61+1G>A (n.61+1G>A) | ClinVar dbSNP ExAC gnomAD v4 |
12 | g.51912536G>C | CA384896768 | ACVRL1 | c.103+1G>C (n.103+1G>C) c.61+1G>C (n.61+1G>C) | |
12 | g.51912536G= | CA2036266331 | ACVRL1 | c.103+1G= (n.103+1G=) c.61+1G= (n.61+1G=) | |
12 | g.51912536G>T | CA384896767 | ACVRL1 | c.103+1G>T (n.103+1G>T) c.61+1G>T (n.61+1G>T) | ClinVar |
12 | g.51912537T>A | CA384896780 | ACVRL1 | c.103+2T>A (n.103+2T>A) c.61+2T>A (n.61+2T>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51912537T>C | CA384896784 | ACVRL1 | c.103+2T>C (n.103+2T>C) c.61+2T>C (n.61+2T>C) | dbSNP |
12 | g.51912537T>G | CA384896783 | ACVRL1 | c.103+2T>G (n.103+2T>G) c.61+2T>G (n.61+2T>G) | |
12 | g.51912537T= | CA2036266334 | ACVRL1 | c.103+2T= (n.103+2T=) c.61+2T= (n.61+2T=) | |
12 | g.51912538G>C | CA2618856045 | ACVRL1 | c.103+3G>C (n.103+3G>C) c.61+3G>C (n.61+3G>C) | gnomAD v4 |
12 | g.51912541_51912551del | CA2618856044 | ACVRL1 | c.103+6_103+16del (n.103+6_103+16del) c.61+6_61+16del (n.61+6_61+16del) | gnomAD v4 |
12 | g.51912539A>G | CA2618856048 | ACVRL1 | c.103+4A>G (n.103+4A>G) c.61+4A>G (n.61+4A>G) | gnomAD v4 |
12 | g.51912540G>A | CA2618856049 | ACVRL1 | c.103+5G>A (n.103+5G>A) c.61+5G>A (n.61+5G>A) | gnomAD v4 |
12 | g.51912541T>A | CA2618856050 | ACVRL1 | c.103+6T>A (n.103+6T>A) c.61+6T>A (n.61+6T>A) | gnomAD v4 |