Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.17793624G>A | CA398545975 | RAI1 | c.676G>A (p.Val226Ile) c.617-6G>A (n.617-6G>A) | |
17 | g.17793624G>C | CA398545976 | RAI1 | c.676G>C (p.Val226Leu) c.617-6G>C (n.617-6G>C) | |
17 | g.17793624G>T | CA398545977 | RAI1 | c.676G>T (p.Val226Phe) c.617-6G>T (n.617-6G>T) | |
17 | g.17793625T>A | CA398545978 | RAI1 | c.677T>A (p.Val226Asp) c.617-5T>A (n.617-5T>A) | |
17 | g.17793625T>C | CA398545979 | RAI1 | c.677T>C (p.Val226Ala) c.617-5T>C (n.617-5T>C) | |
17 | g.17793625T>G | CA398545980 | RAI1 | c.677T>G (p.Val226Gly) c.617-5T>G (n.617-5T>G) | |
17 | g.17793626C>A | CA498422982 | RAI1 | c.678C>A (p.Val226=) c.617-4C>A (n.617-4C>A) | |
17 | g.17793626C= | CA2250666517 | RAI1 | c.678C= (p.Val226=) c.617-4C= (n.617-4C=) | |
17 | g.17793626C>G | CA498422984 | RAI1 | c.678C>G (p.Val226=) c.617-4C>G (n.617-4C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.17793626C>T | CA498422983 | RAI1 | c.678C>T (p.Val226=) c.617-4C>T (n.617-4C>T) | |
17 | g.17793627C>A | CA398545981 | RAI1 | c.679C>A (p.Gln227Lys) c.617-3C>A (n.617-3C>A) | |
17 | g.17793627C>G | CA398545982 | RAI1 | c.679C>G (p.Gln227Glu) c.617-3C>G (n.617-3C>G) | |
17 | g.17793627C>T | CA398545983 | RAI1 | c.679C>T (p.Gln227Ter) c.617-3C>T (n.617-3C>T) | |
17 | g.17793628A= | CA2250666520 | RAI1 | c.680A= (p.Gln227=) c.617-2A= (n.617-2A=) | |
17 | g.17793628A>C | CA398545984 | RAI1 | c.680A>C (p.Gln227Pro) c.617-2A>C (n.617-2A>C) | |
17 | g.17793628A>G | CA288367193 | RAI1 | c.680A>G (p.Gln227Arg) c.617-2A>G (n.617-2A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17793628A>T | CA398545985 | RAI1 | c.680A>T (p.Gln227Leu) c.617-2A>T (n.617-2A>T) | gnomAD v4 |
17 | g.17793629G>A | CA498422603 | RAI1 | c.681G>A (p.Gln227=) c.617-1G>A (n.617-1G>A) | |
17 | g.17793629G>C | CA398545986 | RAI1 | c.681G>C (p.Gln227His) c.617-1G>C (n.617-1G>C) | |
17 | g.17793629G>T | CA398545987 | RAI1 | c.681G>T (p.Gln227His) c.617-1G>T (n.617-1G>T) | |
17 | g.17793630G>A | CA398545988 | RAI1 | c.682G>A (p.Gly228Ser) c.617G>A (p.Gly206Glu) | ClinVar |
17 | g.17793630G>C | CA398545989 | RAI1 | c.682G>C (p.Gly228Arg) c.617G>C (p.Gly206Ala) | |
17 | g.17793630G>T | CA398545990 | RAI1 | c.682G>T (p.Gly228Cys) c.617G>T (p.Gly206Val) | |
17 | g.17793631G>A | CA398545991 | RAI1 | c.683G>A (p.Gly228Asp) c.618G>A (p.Gly206=) | |
17 | g.17793631G>C | CA398545992 | RAI1 | c.683G>C (p.Gly228Ala) c.618G>C (p.Gly206=) | |
17 | g.17793631G>T | CA398545993 | RAI1 | c.683G>T (p.Gly228Val) c.618G>T (p.Gly206=) | gnomAD v4 |
17 | g.17793632T>A | CA498422605 | RAI1 | c.684T>A (p.Gly228=) c.619T>A (p.Trp207Arg) | |
17 | g.17793632T>C | CA498422608 | RAI1 | c.684T>C (p.Gly228=) c.619T>C (p.Trp207Arg) | |
17 | g.17793632T>G | CA498422606 | RAI1 | c.684T>G (p.Gly228=) c.619T>G (p.Trp207Gly) | |
17 | g.17793633G>A | CA398545996 | RAI1 | c.685G>A (p.Gly229Ser) c.620G>A (p.Trp207Ter) | gnomAD v4 |
17 | g.17793633G>C | CA398545995 | RAI1 | c.685G>C (p.Gly229Arg) c.620G>C (p.Trp207Ser) | |
17 | g.17793633G= | CA2250666524 | RAI1 | c.685G= (p.Gly229=) c.620G= (p.Trp207=) | |
17 | g.17793633G>T | CA398545994 | RAI1 | c.685G>T (p.Gly229Cys) c.620G>T (p.Trp207Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.17793634G>A | CA398545997 | RAI1 | c.686G>A (p.Gly229Asp) c.621G>A (p.Trp207Ter) | gnomAD v4 |
17 | g.17793634G>C | CA398545998 | RAI1 | c.686G>C (p.Gly229Ala) c.621G>C (p.Trp207Cys) | |
17 | g.17793634G= | CA2250666531 | RAI1 | c.686G= (p.Gly229=) c.621G= (p.Trp207=) | |
17 | g.17793634G>T | CA8418169 | RAI1 | c.686G>T (p.Gly229Val) c.621G>T (p.Trp207Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793635T>A | CA498422610 | RAI1 | c.687T>A (p.Gly229=) c.622T>A (p.Trp208Arg) | |
17 | g.17793635T>C | CA498422611 | RAI1 | c.687T>C (p.Gly229=) c.622T>C (p.Trp208Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.17793635T>G | CA498422612 | RAI1 | c.687T>G (p.Gly229=) c.622T>G (p.Trp208Gly) | |
17 | g.17793635T= | CA2250666534 | RAI1 | c.687T= (p.Gly229=) c.622T= (p.Trp208=) | |
17 | g.17793636G>A | CA8418170 | RAI1 | c.688G>A (p.Gly230Arg) c.623G>A (p.Trp208Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17793636G>C | CA398545999 | RAI1 | c.688G>C (p.Gly230Arg) c.623G>C (p.Trp208Ser) | |
17 | g.17793636G= | CA2250666536 | RAI1 | c.688G= (p.Gly230=) c.623G= (p.Trp208=) | |
17 | g.17793636G>T | CA398546000 | RAI1 | c.688G>T (p.Gly230Trp) c.623G>T (p.Trp208Leu) | |
17 | g.17793637G>A | CA398546001 | RAI1 | c.689G>A (p.Gly230Glu) c.624G>A (p.Trp208Ter) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17793637G>C | CA398546002 | RAI1 | c.689G>C (p.Gly230Ala) c.624G>C (p.Trp208Cys) | |
17 | g.17793637G= | CA2250666539 | RAI1 | c.689G= (p.Gly230=) c.624G= (p.Trp208=) | |
17 | g.17793637G>T | CA398546003 | RAI1 | c.689G>T (p.Gly230Val) c.624G>T (p.Trp208Cys) | |
17 | g.17793638G>A | CA498422616 | RAI1 | c.690G>A (p.Gly230=) c.625G>A (p.Ala209Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |