| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51913242_51913246dup | CA2695216678 | ACVRL1 | c.247_251dup (p.Asn85AlafsTer?) c.205_209dup (p.Asn71AlafsTer?) c.103+707_103+711dup (n.103+707_103+711dup) | |
| 12 | g.51913244C>A | CA384897901 | ACVRL1 | c.249C>A (p.Cys83Ter) c.207C>A (p.Cys69Ter) c.103+709C>A (n.103+709C>A) | ClinVar dbSNP |
| 12 | g.51913244C= | CA2036267107 | ACVRL1 | c.249C= (p.Cys83=) c.207C= (p.Cys69=) c.103+709C= (n.103+709C=) | |
| 12 | g.51913244C>G | CA384897902 | ACVRL1 | c.249C>G (p.Cys83Trp) c.207C>G (p.Cys69Trp) c.103+709C>G (n.103+709C>G) | |
| 12 | g.51913244C>T | CA6572834 | ACVRL1 | c.249C>T (p.Cys83=) c.207C>T (p.Cys69=) c.103+709C>T (n.103+709C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51913245G>A | CA384897903 | ACVRL1 | c.250G>A (p.Gly84Arg) c.208G>A (p.Gly70Arg) c.103+710G>A (n.103+710G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.51913245G>C | CA384897904 | ACVRL1 | c.250G>C (p.Gly84Arg) c.208G>C (p.Gly70Arg) c.103+710G>C (n.103+710G>C) | gnomAD v4 |
| 12 | g.51913245G= | CA2036267115 | ACVRL1 | c.250G= (p.Gly84=) c.208G= (p.Gly70=) c.103+710G= (n.103+710G=) | |
| 12 | g.51913245G>T | CA384897905 | ACVRL1 | c.250G>T (p.Gly84Trp) c.208G>T (p.Gly70Trp) c.103+710G>T (n.103+710G>T) | |
| 12 | g.51913246G>A | CA384897908 | ACVRL1 | c.251G>A (p.Gly84Glu) c.209G>A (p.Gly70Glu) c.103+711G>A (n.103+711G>A) | dbSNP gnomAD v2 |
| 12 | g.51913246G>C | CA384897907 | ACVRL1 | c.251G>C (p.Gly84Ala) c.209G>C (p.Gly70Ala) c.103+711G>C (n.103+711G>C) | |
| 12 | g.51913246G= | CA2036267122 | ACVRL1 | c.251G= (p.Gly84=) c.209G= (p.Gly70=) c.103+711G= (n.103+711G=) | |
| 12 | g.51913246G>T | CA384897906 | ACVRL1 | c.251G>T (p.Gly84Val) c.209G>T (p.Gly70Val) c.103+711G>T (n.103+711G>T) | |
| 12 | g.51913247G>A | CA480063050 | ACVRL1 | c.252G>A (p.Gly84=) c.210G>A (p.Gly70=) c.103+712G>A (n.103+712G>A) | |
| 12 | g.51913247G>C | CA480063051 | ACVRL1 | c.252G>C (p.Gly84=) c.210G>C (p.Gly70=) c.103+712G>C (n.103+712G>C) | |
| 12 | g.51913247G>T | CA480063052 | ACVRL1 | c.252G>T (p.Gly84=) c.210G>T (p.Gly70=) c.103+712G>T (n.103+712G>T) | |
| 12 | g.51913247_51913250delinsAAA | CA2580086440 | ACVRL1 | c.252_255delinsAAA (p.Leu86CysfsTer?) c.210_213delinsAAA (p.Leu72CysfsTer?) c.103+712_103+715delinsAAA (n.103+712_103+715delinsAAA) | ClinVar |
| 12 | g.51913248A>C | CA384897909 | ACVRL1 | c.253A>C (p.Asn85His) c.211A>C (p.Asn71His) c.103+713A>C (n.103+713A>C) | gnomAD v4 |
| 12 | g.51913248A>G | CA384897911 | ACVRL1 | c.253A>G (p.Asn85Asp) c.211A>G (p.Asn71Asp) c.103+713A>G (n.103+713A>G) | |
| 12 | g.51913248A>T | CA384897910 | ACVRL1 | c.253A>T (p.Asn85Tyr) c.211A>T (p.Asn71Tyr) c.103+713A>T (n.103+713A>T) | |
| 12 | g.51913249A>C | CA384897912 | ACVRL1 | c.254A>C (p.Asn85Thr) c.212A>C (p.Asn71Thr) c.103+714A>C (n.103+714A>C) | |
| 12 | g.51913249A>G | CA384897914 | ACVRL1 | c.254A>G (p.Asn85Ser) c.212A>G (p.Asn71Ser) c.103+714A>G (n.103+714A>G) | gnomAD v4 |
| 12 | g.51913249A>T | CA384897913 | ACVRL1 | c.254A>T (p.Asn85Ile) c.212A>T (p.Asn71Ile) c.103+714A>T (n.103+714A>T) | |
| 12 | g.51913251_51913256del | CA2580086441 | ACVRL1 | c.256_261del (p.Leu86_His87del) c.214_219del (p.Leu72_His73del) c.103+716_103+721del (n.103+716_103+721del) | ClinVar |
| 12 | g.51913250C>A | CA384897915 | ACVRL1 | c.255C>A (p.Asn85Lys) c.213C>A (p.Asn71Lys) c.103+715C>A (n.103+715C>A) | |
| 12 | g.51913250C>G | CA384897916 | ACVRL1 | c.255C>G (p.Asn85Lys) c.213C>G (p.Asn71Lys) c.103+715C>G (n.103+715C>G) | |
| 12 | g.51913250C>T | CA480063055 | ACVRL1 | c.255C>T (p.Asn85=) c.213C>T (p.Asn71=) c.103+715C>T (n.103+715C>T) | gnomAD v4 |
| 12 | g.51913251T>A | CA384897917 | ACVRL1 | c.256T>A (p.Leu86Met) c.214T>A (p.Leu72Met) c.103+716T>A (n.103+716T>A) | |
| 12 | g.51913251T>C | CA480063056 | ACVRL1 | c.256T>C (p.Leu86=) c.214T>C (p.Leu72=) c.103+716T>C (n.103+716T>C) | |
| 12 | g.51913251T>G | CA384897918 | ACVRL1 | c.256T>G (p.Leu86Val) c.214T>G (p.Leu72Val) c.103+716T>G (n.103+716T>G) | |
| 12 | g.51913252del | CA2695216679 | ACVRL1 | c.257del (p.Leu86CysfsTer?) c.215del (p.Leu72CysfsTer?) c.103+717del (n.103+717del) | |
| 12 | g.51913252T>A | CA384897919 | ACVRL1 | c.257T>A (p.Leu86Ter) c.215T>A (p.Leu72Ter) c.103+717T>A (n.103+717T>A) | |
| 12 | g.51913252T>C | CA384897920 | ACVRL1 | c.257T>C (p.Leu86Ser) c.215T>C (p.Leu72Ser) c.103+717T>C (n.103+717T>C) | |
| 12 | g.51913252T>G | CA384897921 | ACVRL1 | c.257T>G (p.Leu86Trp) c.215T>G (p.Leu72Trp) c.103+717T>G (n.103+717T>G) | |
| 12 | g.51913253G>A | CA480063057 | ACVRL1 | c.258G>A (p.Leu86=) c.216G>A (p.Leu72=) c.103+718G>A (n.103+718G>A) | gnomAD v4 |
| 12 | g.51913253G>C | CA384897922 | ACVRL1 | c.258G>C (p.Leu86Phe) c.216G>C (p.Leu72Phe) c.103+718G>C (n.103+718G>C) | |
| 12 | g.51913253G>T | CA384897923 | ACVRL1 | c.258G>T (p.Leu86Phe) c.216G>T (p.Leu72Phe) c.103+718G>T (n.103+718G>T) | |
| 12 | g.51913254C>A | CA384897924 | ACVRL1 | c.259C>A (p.His87Asn) c.217C>A (p.His73Asn) c.103+719C>A (n.103+719C>A) | |
| 12 | g.51913254C= | CA2036267127 | ACVRL1 | c.259C= (p.His87=) c.217C= (p.His73=) c.103+719C= (n.103+719C=) | |
| 12 | g.51913254C>G | CA384897925 | ACVRL1 | c.259C>G (p.His87Asp) c.217C>G (p.His73Asp) c.103+719C>G (n.103+719C>G) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51913254C>T | CA384897926 | ACVRL1 | c.259C>T (p.His87Tyr) c.217C>T (p.His73Tyr) c.103+719C>T (n.103+719C>T) | gnomAD v4 |
| 12 | g.51913255A>C | CA384897929 | ACVRL1 | c.260A>C (p.His87Pro) c.218A>C (p.His73Pro) c.103+720A>C (n.103+720A>C) | |
| 12 | g.51913255A>G | CA384897927 | ACVRL1 | c.260A>G (p.His87Arg) c.218A>G (p.His73Arg) c.103+720A>G (n.103+720A>G) | |
| 12 | g.51913255A>T | CA384897928 | ACVRL1 | c.260A>T (p.His87Leu) c.218A>T (p.His73Leu) c.103+720A>T (n.103+720A>T) | |
| 12 | g.51913255_51913256insAA | CA2695216680 | ACVRL1 | c.260_261insAA (p.His87GlnfsTer?) c.218_219insAA (p.His73GlnfsTer?) c.103+720_103+721insAA (n.103+720_103+721insAA) | |
| 12 | g.51913256C>A | CA384897930 | ACVRL1 | c.261C>A (p.His87Gln) c.219C>A (p.His73Gln) c.103+721C>A (n.103+721C>A) | |
| 12 | g.51913256C= | CA2036267133 | ACVRL1 | c.261C= (p.His87=) c.219C= (p.His73=) c.103+721C= (n.103+721C=) | |
| 12 | g.51913256C>G | CA384897931 | ACVRL1 | c.261C>G (p.His87Gln) c.219C>G (p.His73Gln) c.103+721C>G (n.103+721C>G) | |
| 12 | g.51913256C>T | CA480063059 | ACVRL1 | c.261C>T (p.His87=) c.219C>T (p.His73=) c.103+721C>T (n.103+721C>T) | dbSNP |
| 12 | g.51913257A= | CA2036267134 | ACVRL1 | c.262A= (p.Arg88=) c.220A= (p.Arg74=) c.103+722A= (n.103+722A=) |