| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51913240dup | CA2695216675 | ACVRL1 | c.245dup (p.Cys83LeufsTer?) c.203dup (p.Cys69LeufsTer?) c.103+705dup (n.103+705dup) | |
| 12 | g.51913240del | CA2695216676 | ACVRL1 | c.245del (p.Gly82AlafsTer?) c.203del (p.Gly68AlafsTer?) c.103+705del (n.103+705del) | |
| 12 | g.51913239G>A | CA6572833 | ACVRL1 | c.244G>A (p.Gly82Ser) c.202G>A (p.Gly68Ser) c.103+704G>A (n.103+704G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51913239G>C | CA384897890 | ACVRL1 | c.244G>C (p.Gly82Arg) c.202G>C (p.Gly68Arg) c.103+704G>C (n.103+704G>C) | |
| 12 | g.51913239G= | CA2036267093 | ACVRL1 | c.244G= (p.Gly82=) c.202G= (p.Gly68=) c.103+704G= (n.103+704G=) | |
| 12 | g.51913239G>T | CA384897891 | ACVRL1 | c.244G>T (p.Gly82Cys) c.202G>T (p.Gly68Cys) c.103+704G>T (n.103+704G>T) | |
| 12 | g.51913240G>A | CA384897894 | ACVRL1 | c.245G>A (p.Gly82Asp) c.203G>A (p.Gly68Asp) c.103+705G>A (n.103+705G>A) | gnomAD v4 |
| 12 | g.51913240G>C | CA384897892 | ACVRL1 | c.245G>C (p.Gly82Ala) c.203G>C (p.Gly68Ala) c.103+705G>C (n.103+705G>C) | |
| 12 | g.51913240G>T | CA384897893 | ACVRL1 | c.245G>T (p.Gly82Val) c.203G>T (p.Gly68Val) c.103+705G>T (n.103+705G>T) | |
| 12 | g.51913241C>A | CA480063043 | ACVRL1 | c.246C>A (p.Gly82=) c.204C>A (p.Gly68=) c.103+706C>A (n.103+706C>A) | dbSNP gnomAD v4 |
| 12 | g.51913241C= | CA2036267095 | ACVRL1 | c.246C= (p.Gly82=) c.204C= (p.Gly68=) c.103+706C= (n.103+706C=) | |
| 12 | g.51913241C>G | CA480063044 | ACVRL1 | c.246C>G (p.Gly82=) c.204C>G (p.Gly68=) c.103+706C>G (n.103+706C>G) | |
| 12 | g.51913241C>T | CA480063046 | ACVRL1 | c.246C>T (p.Gly82=) c.204C>T (p.Gly68=) c.103+706C>T (n.103+706C>T) | |
| 12 | g.51913242T>A | CA384897895 | ACVRL1 | c.247T>A (p.Cys83Ser) c.205T>A (p.Cys69Ser) c.103+707T>A (n.103+707T>A) | |
| 12 | g.51913242T>C | CA384897896 | ACVRL1 | c.247T>C (p.Cys83Arg) c.205T>C (p.Cys69Arg) c.103+707T>C (n.103+707T>C) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.51913242T>G | CA384897897 | ACVRL1 | c.247T>G (p.Cys83Gly) c.205T>G (p.Cys69Gly) c.103+707T>G (n.103+707T>G) | |
| 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.51913243G>A | CA384897898 | ACVRL1 | c.248G>A (p.Cys83Tyr) c.206G>A (p.Cys69Tyr) c.103+708G>A (n.103+708G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913243G>C | CA384897899 | ACVRL1 | c.248G>C (p.Cys83Ser) c.206G>C (p.Cys69Ser) c.103+708G>C (n.103+708G>C) | |
| 12 | g.51913243G= | CA2036267099 | ACVRL1 | c.248G= (p.Cys83=) c.206G= (p.Cys69=) c.103+708G= (n.103+708G=) | |
| 12 | g.51913243G>T | CA384897900 | ACVRL1 | c.248G>T (p.Cys83Phe) c.206G>T (p.Cys69Phe) c.103+708G>T (n.103+708G>T) | ClinVar dbSNP gnomAD v4 |
| 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) |