Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51912485del | CA2695216658 | ACVRL1 | c.53del (p.Gly18AlafsTer8) c.11del (p.Gly4AlafsTer8) | |
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 |
12 | g.51912542A= | CA2036266338 | ACVRL1 | c.103+7A= (n.103+7A=) c.61+7A= (n.61+7A=) | |
12 | g.51912542A>T | CA6572790 | ACVRL1 | c.103+7A>T (n.103+7A>T) c.61+7A>T (n.61+7A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912543C>A | CA2036266341 | ACVRL1 | c.103+8C>A (n.103+8C>A) c.61+8C>A (n.61+8C>A) | dbSNP |
12 | g.51912543C= | CA2036266340 | ACVRL1 | c.103+8C= (n.103+8C=) c.61+8C= (n.61+8C=) | |
12 | g.51912544T>G | CA479804373 | ACVRL1 | c.103+9T>G (n.103+9T>G) c.61+9T>G (n.61+9T>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51912544T= | CA2036266343 | ACVRL1 | c.103+9T= (n.103+9T=) c.61+9T= (n.61+9T=) | |
12 | g.51912545G>A | CA6572791 | ACVRL1 | c.103+10G>A (n.103+10G>A) c.61+10G>A (n.61+10G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51912545G= | CA2036266345 | ACVRL1 | c.103+10G= (n.103+10G=) c.61+10G= (n.61+10G=) | |
12 | g.51912545G>T | CA2618856062 | ACVRL1 | c.103+10G>T (n.103+10G>T) c.61+10G>T (n.61+10G>T) | gnomAD v4 |
12 | g.51912549dup | CA2575161272 | ACVRL1 | c.103+14dup (n.103+14dup) c.61+14dup (n.61+14dup) | gnomAD v4 |
12 | g.51912549del | CA2618856064 | ACVRL1 | c.103+14del (n.103+14del) c.61+14del (n.61+14del) | gnomAD v4 |
12 | g.51912546G>T | CA2575161274 | ACVRL1 | c.103+11G>T (n.103+11G>T) c.61+11G>T (n.61+11G>T) | |
12 | g.51912547G>A | CA2575161275 | ACVRL1 | c.103+12G>A (n.103+12G>A) c.61+12G>A (n.61+12G>A) | |
12 | g.51912548G>A | CA689763254 | ACVRL1 | c.103+13G>A (n.103+13G>A) c.61+13G>A (n.61+13G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51912548G= | CA2036266349 | ACVRL1 | c.103+13G= (n.103+13G=) c.61+13G= (n.61+13G=) | |
12 | g.51912548G>T | CA2575161276 | ACVRL1 | c.103+13G>T (n.103+13G>T) c.61+13G>T (n.61+13G>T) | |
12 | g.51912549G>A | CA2618856067 | ACVRL1 | c.103+14G>A (n.103+14G>A) c.61+14G>A (n.61+14G>A) | ClinVar gnomAD v4 |
12 | g.51912549G>C | CA2618856093 | ACVRL1 | c.103+14G>C (n.103+14G>C) c.61+14G>C (n.61+14G>C) | gnomAD v4 |
12 | g.51912551G>A | CA6572792 | ACVRL1 | c.103+16G>A (n.103+16G>A) c.61+16G>A (n.61+16G>A) | dbSNP ExAC gnomAD v4 |
12 | g.51912551G= | CA2036266351 | ACVRL1 | c.103+16G= (n.103+16G=) c.61+16G= (n.61+16G=) | |
12 | g.51912552C>A | CA605051394 | ACVRL1 | c.103+17C>A (n.103+17C>A) c.61+17C>A (n.61+17C>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51912552C= | CA2036266356 | ACVRL1 | c.103+17C= (n.103+17C=) c.61+17C= (n.61+17C=) | |
12 | g.51912552C>T | CA605051395 | ACVRL1 | c.103+17C>T (n.103+17C>T) c.61+17C>T (n.61+17C>T) | dbSNP gnomAD v2 |
12 | g.51912554G>A | CA2618856101 | ACVRL1 | c.103+19G>A (n.103+19G>A) c.61+19G>A (n.61+19G>A) | gnomAD v4 |
12 | g.51912554G>C | CA6572793 | ACVRL1 | c.103+19G>C (n.103+19G>C) c.61+19G>C (n.61+19G>C) | dbSNP ExAC gnomAD v2 |
12 | g.51912554G= | CA2036266359 | ACVRL1 | c.103+19G= (n.103+19G=) c.61+19G= (n.61+19G=) | |
12 | g.51912555T>C | CA2618856104 | ACVRL1 | c.103+20T>C (n.103+20T>C) c.61+20T>C (n.61+20T>C) | gnomAD v4 |
12 | g.51912556T>G | CA2036266361 | ACVRL1 | c.103+21T>G (n.103+21T>G) c.61+21T>G (n.61+21T>G) | dbSNP gnomAD v4 |
12 | g.51912556T= | CA2036266360 | ACVRL1 | c.103+21T= (n.103+21T=) c.61+21T= (n.61+21T=) | |
12 | g.51912557del | CA2618856111 | ACVRL1 | c.103+22del (n.103+22del) c.61+22del (n.61+22del) | gnomAD v4 |
12 | g.51912557A= | CA2036266363 | ACVRL1 | c.103+22A= (n.103+22A=) c.61+22A= (n.61+22A=) | |
12 | g.51912557A>C | CA2575161277 | ACVRL1 | c.103+22A>C (n.103+22A>C) c.61+22A>C (n.61+22A>C) | |
12 | g.51912557A>G | CA6572794 | ACVRL1 | c.103+22A>G (n.103+22A>G) c.61+22A>G (n.61+22A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912557A>T | CA2581087477 | ACVRL1 | c.103+22A>T (n.103+22A>T) c.61+22A>T (n.61+22A>T) | |
12 | g.51912559G>T | CA2618856118 | ACVRL1 | c.103+24G>T (n.103+24G>T) c.61+24G>T (n.61+24G>T) | gnomAD v4 |
12 | g.51912561A= | CA2036266367 | ACVRL1 | c.103+26A= (n.103+26A=) c.61+26A= (n.61+26A=) | |
12 | g.51912561A>G | CA6572795 | ACVRL1 | c.103+26A>G (n.103+26A>G) c.61+26A>G (n.61+26A>G) | dbSNP ExAC gnomAD v2 |
12 | g.51912563C>A | CA2575161279 | ACVRL1 | c.103+28C>A (n.103+28C>A) c.61+28C>A (n.61+28C>A) | gnomAD v4 |
12 | g.51912564A>G | CA654740720 | ACVRL1 | c.103+29A>G (n.103+29A>G) c.61+29A>G (n.61+29A>G) | gnomAD v4 COSMIC |
12 | g.51912566G>A | CA2618856122 | ACVRL1 | c.103+31G>A (n.103+31G>A) c.61+31G>A (n.61+31G>A) | gnomAD v4 |
12 | g.51912568A= | CA2036266369 | ACVRL1 | c.103+33A= (n.103+33A=) c.61+33A= (n.61+33A=) | |
12 | g.51912568A>G | CA947665108 | ACVRL1 | c.103+33A>G (n.103+33A>G) c.61+33A>G (n.61+33A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51912569C>A | CA605051401 | ACVRL1 | c.103+34C>A (n.103+34C>A) c.61+34C>A (n.61+34C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912569C= | CA2036266371 | ACVRL1 | c.103+34C= (n.103+34C=) c.61+34C= (n.61+34C=) | |
12 | g.51912570C>A | CA2618856129 | ACVRL1 | c.103+35C>A (n.103+35C>A) c.61+35C>A (n.61+35C>A) | gnomAD v4 |
12 | g.51912572G= | CA2036266373 | ACVRL1 | c.103+37G= (n.103+37G=) c.61+37G= (n.61+37G=) | |
12 | g.51912572G>T | CA6572796 | ACVRL1 | c.103+37G>T (n.103+37G>T) c.61+37G>T (n.61+37G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912573G>A | CA689763272 | ACVRL1 | c.103+38G>A (n.103+38G>A) c.61+38G>A (n.61+38G>A) | dbSNP gnomAD v4 |
12 | g.51912573G>C | CA2575161281 | ACVRL1 | c.103+38G>C (n.103+38G>C) c.61+38G>C (n.61+38G>C) | gnomAD v4 |
12 | g.51912573G= | CA2036266376 | ACVRL1 | c.103+38G= (n.103+38G=) c.61+38G= (n.61+38G=) | |
12 | g.51912574A= | CA2036266378 | ACVRL1 | c.103+39A= (n.103+39A=) c.61+39A= (n.61+39A=) | |
12 | g.51912574A>G | CA605051403 | ACVRL1 | c.103+39A>G (n.103+39A>G) c.61+39A>G (n.61+39A>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51912576A= | CA2036266380 | ACVRL1 | c.103+41A= (n.103+41A=) c.61+41A= (n.61+41A=) | |
12 | g.51912576A>G | CA689763280 | ACVRL1 | c.103+41A>G (n.103+41A>G) c.61+41A>G (n.61+41A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51912577C>A | CA2575161282 | ACVRL1 | c.103+42C>A (n.103+42C>A) c.61+42C>A (n.61+42C>A) | |
12 | g.51912578A>G | CA2618856138 | ACVRL1 | c.103+43A>G (n.103+43A>G) c.61+43A>G (n.61+43A>G) | gnomAD v4 |
12 | g.51912579G>C | CA6572797 | ACVRL1 | c.103+44G>C (n.103+44G>C) c.61+44G>C (n.61+44G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51912579G= | CA2036266382 | ACVRL1 | c.103+44G= (n.103+44G=) c.61+44G= (n.61+44G=) | |
12 | g.51912581A= | CA2036266383 | ACVRL1 | c.103+46A= (n.103+46A=) c.61+46A= (n.61+46A=) | |
12 | g.51912581A>G | CA2036266385 | ACVRL1 | c.103+46A>G (n.103+46A>G) c.61+46A>G (n.61+46A>G) | dbSNP gnomAD v4 |
12 | g.51912582A= | CA2036266386 | ACVRL1 | c.103+47A= (n.103+47A=) c.61+47A= (n.61+47A=) | |
12 | g.51912582A>G | CA605051404 | ACVRL1 | c.103+47A>G (n.103+47A>G) c.61+47A>G (n.61+47A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51912584G= | CA2036266387 | ACVRL1 | c.103+49G= (n.103+49G=) c.61+49G= (n.61+49G=) | |
12 | g.51912584G>T | CA605051406 | ACVRL1 | c.103+49G>T (n.103+49G>T) c.61+49G>T (n.61+49G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |