Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.133756963T>A | CA354604949 | TF | c.824T>A (p.Met275Lys) c.189T>A (p.Tyr63Ter) c.692T>A (p.Met231Lys) c.443T>A (p.Met148Lys) | |
3 | g.133756963T>C | CA354604950 | TF | c.824T>C (p.Met275Thr) c.189T>C (p.Tyr63=) c.692T>C (p.Met231Thr) c.443T>C (p.Met148Thr) | |
3 | g.133756963T>G | CA354604951 | TF | c.824T>G (p.Met275Arg) c.189T>G (p.Tyr63Ter) c.692T>G (p.Met231Arg) c.443T>G (p.Met148Arg) | |
3 | g.133756964G>A | CA354604952 | TF | c.825G>A (p.Met275Ile) c.190G>A (p.Gly64Arg) c.693G>A (p.Met231Ile) c.444G>A (p.Met148Ile) | |
3 | g.133756964G>C | CA354604953 | TF | c.825G>C (p.Met275Ile) c.190G>C (p.Gly64Arg) c.693G>C (p.Met231Ile) c.444G>C (p.Met148Ile) | |
3 | g.133756964G>T | CA354604954 | TF | c.825G>T (p.Met275Ile) c.190G>T (p.Gly64Trp) c.693G>T (p.Met231Ile) c.444G>T (p.Met148Ile) | |
3 | g.133756965G>A | CA354604957 | TF | c.826G>A (p.Gly276Ser) c.191G>A (p.Gly64Glu) c.694G>A (p.Gly232Ser) c.445G>A (p.Gly149Ser) | |
3 | g.133756965G>C | CA354604956 | TF | c.826G>C (p.Gly276Arg) c.191G>C (p.Gly64Ala) c.694G>C (p.Gly232Arg) c.445G>C (p.Gly149Arg) | dbSNP gnomAD v4 |
3 | g.133756965G= | CA1403107399 | TF | c.826G= (p.Gly276=) c.191G= (p.Gly64=) c.694G= (p.Gly232=) c.445G= (p.Gly149=) | |
3 | g.133756965G>T | CA354604955 | TF | c.826G>T (p.Gly276Cys) c.191G>T (p.Gly64Val) c.694G>T (p.Gly232Cys) c.445G>T (p.Gly149Cys) | |
3 | g.133756966G>A | CA354604958 | TF | c.827G>A (p.Gly276Asp) c.192G>A (p.Gly64=) c.695G>A (p.Gly232Asp) c.446G>A (p.Gly149Asp) | gnomAD v4 |
3 | g.133756966G>C | CA354604959 | TF | c.827G>C (p.Gly276Ala) c.192G>C (p.Gly64=) c.695G>C (p.Gly232Ala) c.446G>C (p.Gly149Ala) | |
3 | g.133756966G>T | CA354604960 | TF | c.827G>T (p.Gly276Val) c.192G>T (p.Gly64=) c.695G>T (p.Gly232Val) c.446G>T (p.Gly149Val) | |
3 | g.133756967C>A | CA435806661 | TF | c.828C>A (p.Gly276=) c.193C>A (p.Arg65=) c.696C>A (p.Gly232=) c.447C>A (p.Gly149=) | ClinVar |
3 | g.133756967C= | CA1403107411 | TF | c.828C= (p.Gly276=) c.193C= (p.Arg65=) c.696C= (p.Gly232=) c.447C= (p.Gly149=) | |
3 | g.133756967C>G | CA435806663 | TF | c.828C>G (p.Gly276=) c.193C>G (p.Arg65Gly) c.696C>G (p.Gly232=) c.447C>G (p.Gly149=) | gnomAD v4 |
3 | g.133756967C>T | CA2625109 | TF | c.828C>T (p.Gly276=) c.193C>T (p.Arg65Trp) c.696C>T (p.Gly232=) c.447C>T (p.Gly149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756968G>A | CA122571 | TF | c.829G>A (p.Gly277Ser) c.194G>A (p.Arg65Gln) c.697G>A (p.Gly233Ser) c.448G>A (p.Gly150Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756968G>C | CA354604961 | TF | c.829G>C (p.Gly277Arg) c.194G>C (p.Arg65Pro) c.697G>C (p.Gly233Arg) c.448G>C (p.Gly150Arg) | |
3 | g.133756968G= | CA1403107416 | TF | c.829G= (p.Gly277=) c.194G= (p.Arg65=) c.697G= (p.Gly233=) c.448G= (p.Gly150=) | |
3 | g.133756968G>T | CA354604962 | TF | c.829G>T (p.Gly277Cys) c.194G>T (p.Arg65Leu) c.697G>T (p.Gly233Cys) c.448G>T (p.Gly150Cys) | |
3 | g.133756969G>A | CA122557 | TF | c.830G>A (p.Gly277Asp) c.195G>A (p.Arg65=) c.698G>A (p.Gly233Asp) c.449G>A (p.Gly150Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756969G>C | CA354604963 | TF | c.830G>C (p.Gly277Ala) c.195G>C (p.Arg65=) c.698G>C (p.Gly233Ala) c.449G>C (p.Gly150Ala) | |
3 | g.133756969G= | CA1403107419 | TF | c.830G= (p.Gly277=) c.195G= (p.Arg65=) c.698G= (p.Gly233=) c.449G= (p.Gly150=) | |
3 | g.133756969G>T | CA354604964 | TF | c.830G>T (p.Gly277Val) c.195G>T (p.Arg65=) c.698G>T (p.Gly233Val) c.449G>T (p.Gly150Val) | |
3 | g.133756970C>A | CA435806677 | TF | c.831C>A (p.Gly277=) c.196C>A (p.Gln66Lys) c.699C>A (p.Gly233=) c.450C>A (p.Gly150=) | |
3 | g.133756970C= | CA1403107424 | TF | c.831C= (p.Gly277=) c.196C= (p.Gln66=) c.699C= (p.Gly233=) c.450C= (p.Gly150=) | |
3 | g.133756970C>G | CA435806679 | TF | c.831C>G (p.Gly277=) c.196C>G (p.Gln66Glu) c.699C>G (p.Gly233=) c.450C>G (p.Gly150=) | |
3 | g.133756970C>T | CA435806678 | TF | c.831C>T (p.Gly277=) c.196C>T (p.Gln66Ter) c.699C>T (p.Gly233=) c.450C>T (p.Gly150=) | dbSNP |
3 | g.133756971A>C | CA354604965 | TF | c.832A>C (p.Lys278Gln) c.197A>C (p.Gln66Pro) c.700A>C (p.Lys234Gln) c.451A>C (p.Lys151Gln) | |
3 | g.133756971A>G | CA354604966 | TF | c.832A>G (p.Lys278Glu) c.197A>G (p.Gln66Arg) c.700A>G (p.Lys234Glu) c.451A>G (p.Lys151Glu) | |
3 | g.133756971A>T | CA354604967 | TF | c.832A>T (p.Lys278Ter) c.197A>T (p.Gln66Leu) c.700A>T (p.Lys234Ter) c.451A>T (p.Lys151Ter) | |
3 | g.133756972A>C | CA354604970 | TF | c.833A>C (p.Lys278Thr) c.198A>C (p.Gln66His) c.701A>C (p.Lys234Thr) c.452A>C (p.Lys151Thr) | |
3 | g.133756972A>G | CA354604968 | TF | c.833A>G (p.Lys278Arg) c.198A>G (p.Gln66=) c.701A>G (p.Lys234Arg) c.452A>G (p.Lys151Arg) | |
3 | g.133756972A>T | CA354604969 | TF | c.833A>T (p.Lys278Met) c.198A>T (p.Gln66His) c.701A>T (p.Lys234Met) c.452A>T (p.Lys151Met) | |
3 | g.133756973G>A | CA435806680 | TF | c.834G>A (p.Lys278=) c.199G>A (p.Gly67Arg) c.702G>A (p.Lys234=) c.453G>A (p.Lys151=) | |
3 | g.133756973G>C | CA354604971 | TF | c.834G>C (p.Lys278Asn) c.199G>C (p.Gly67Arg) c.702G>C (p.Lys234Asn) c.453G>C (p.Lys151Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756973G= | CA1403107432 | TF | c.834G= (p.Lys278=) c.199G= (p.Gly67=) c.702G= (p.Lys234=) c.453G= (p.Lys151=) | |
3 | g.133756973G>T | CA354604972 | TF | c.834G>T (p.Lys278Asn) c.199G>T (p.Gly67Ter) c.702G>T (p.Lys234Asn) c.453G>T (p.Lys151Asn) | |
3 | g.133756974G>A | CA354604973 | TF | c.835G>A (p.Glu279Lys) c.200G>A (p.Gly67Glu) c.703G>A (p.Glu235Lys) c.454G>A (p.Glu152Lys) | COSMIC |
3 | g.133756974G>C | CA354604974 | TF | c.835G>C (p.Glu279Gln) c.200G>C (p.Gly67Ala) c.703G>C (p.Glu235Gln) c.454G>C (p.Glu152Gln) | |
3 | g.133756974G>T | CA354604975 | TF | c.835G>T (p.Glu279Ter) c.200G>T (p.Gly67Val) c.703G>T (p.Glu235Ter) c.454G>T (p.Glu152Ter) | |
3 | g.133756975A>C | CA354604976 | TF | c.836A>C (p.Glu279Ala) c.201A>C (p.Gly67=) c.704A>C (p.Glu235Ala) c.455A>C (p.Glu152Ala) | |
3 | g.133756975A>G | CA354604977 | TF | c.836A>G (p.Glu279Gly) c.201A>G (p.Gly67=) c.704A>G (p.Glu235Gly) c.455A>G (p.Glu152Gly) | |
3 | g.133756975A>T | CA354604978 | TF | c.836A>T (p.Glu279Val) c.201A>T (p.Gly67=) c.704A>T (p.Glu235Val) c.455A>T (p.Glu152Val) | |
3 | g.133756976G>A | CA435806681 | TF | c.837G>A (p.Glu279=) c.202G>A (p.Gly68Arg) c.705G>A (p.Glu235=) c.456G>A (p.Glu152=) | |
3 | g.133756976G>C | CA354604979 | TF | c.837G>C (p.Glu279Asp) c.202G>C (p.Gly68Arg) c.705G>C (p.Glu235Asp) c.456G>C (p.Glu152Asp) | |
3 | g.133756976G>T | CA354604980 | TF | c.837G>T (p.Glu279Asp) c.202G>T (p.Gly68Ter) c.705G>T (p.Glu235Asp) c.456G>T (p.Glu152Asp) | |
3 | g.133756977G>A | CA83674609 | TF | c.838G>A (p.Asp280Asn) c.203G>A (p.Gly68Glu) c.706G>A (p.Asp236Asn) c.457G>A (p.Asp153Asn) | dbSNP gnomAD v4 |
3 | g.133756977G>C | CA354604981 | TF | c.838G>C (p.Asp280His) c.203G>C (p.Gly68Ala) c.706G>C (p.Asp236His) c.457G>C (p.Asp153His) | |
3 | g.133756977G= | CA1403107437 | TF | c.838G= (p.Asp280=) c.203G= (p.Gly68=) c.706G= (p.Asp236=) c.457G= (p.Asp153=) | |
3 | g.133756977G>T | CA354604982 | TF | c.838G>T (p.Asp280Tyr) c.203G>T (p.Gly68Val) c.706G>T (p.Asp236Tyr) c.457G>T (p.Asp153Tyr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133756978A>C | CA354604984 | TF | c.839A>C (p.Asp280Ala) c.204A>C (p.Gly68=) c.707A>C (p.Asp236Ala) c.458A>C (p.Asp153Ala) | |
3 | g.133756978A>G | CA354604985 | TF | c.839A>G (p.Asp280Gly) c.204A>G (p.Gly68=) c.707A>G (p.Asp236Gly) c.458A>G (p.Asp153Gly) | |
3 | g.133756978A>T | CA354604983 | TF | c.839A>T (p.Asp280Val) c.204A>T (p.Gly68=) c.707A>T (p.Asp236Val) c.458A>T (p.Asp153Val) | |
3 | g.133756979C>A | CA354604987 | TF | c.840C>A (p.Asp280Glu) c.205C>A (p.Leu69Ile) c.708C>A (p.Asp236Glu) c.459C>A (p.Asp153Glu) | |
3 | g.133756979C= | CA1403107440 | TF | c.840C= (p.Asp280=) c.205C= (p.Leu69=) c.708C= (p.Asp236=) c.459C= (p.Asp153=) | |
3 | g.133756979C>G | CA354604986 | TF | c.840C>G (p.Asp280Glu) c.205C>G (p.Leu69Val) c.708C>G (p.Asp236Glu) c.459C>G (p.Asp153Glu) | |
3 | g.133756979C>T | CA2625110 | TF | c.840C>T (p.Asp280=) c.205C>T (p.Leu69Phe) c.708C>T (p.Asp236=) c.459C>T (p.Asp153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756980T>A | CA354604988 | TF | c.841T>A (p.Leu281Met) c.206T>A (p.Leu69His) c.709T>A (p.Leu237Met) c.460T>A (p.Leu154Met) | |
3 | g.133756980T>C | CA435806682 | TF | c.841T>C (p.Leu281=) c.206T>C (p.Leu69Pro) c.709T>C (p.Leu237=) c.460T>C (p.Leu154=) | |
3 | g.133756980T>G | CA354604989 | TF | c.841T>G (p.Leu281Val) c.206T>G (p.Leu69Arg) c.709T>G (p.Leu237Val) c.460T>G (p.Leu154Val) | |
3 | g.133756981T>A | CA354604990 | TF | c.842T>A (p.Leu281Ter) c.207T>A (p.Leu69=) c.710T>A (p.Leu237Ter) c.461T>A (p.Leu154Ter) | |
3 | g.133756981T>C | CA354604991 | TF | c.842T>C (p.Leu281Ser) c.207T>C (p.Leu69=) c.710T>C (p.Leu237Ser) c.461T>C (p.Leu154Ser) | gnomAD v4 |
3 | g.133756981T>G | CA354604992 | TF | c.842T>G (p.Leu281Trp) c.207T>G (p.Leu69=) c.710T>G (p.Leu237Trp) c.461T>G (p.Leu154Trp) | |
3 | g.133756982G>A | CA435806683 | TF | c.843G>A (p.Leu281=) c.208G>A (p.Asp70Asn) c.711G>A (p.Leu237=) c.462G>A (p.Leu154=) | |
3 | g.133756982G>C | CA354604993 | TF | c.843G>C (p.Leu281Phe) c.208G>C (p.Asp70His) c.711G>C (p.Leu237Phe) c.462G>C (p.Leu154Phe) | |
3 | g.133756982G>T | CA354604994 | TF | c.843G>T (p.Leu281Phe) c.208G>T (p.Asp70Tyr) c.711G>T (p.Leu237Phe) c.462G>T (p.Leu154Phe) | |
3 | g.133756983A>C | CA354604995 | TF | c.844A>C (p.Ile282Leu) c.209A>C (p.Asp70Ala) c.712A>C (p.Ile238Leu) c.463A>C (p.Ile155Leu) | |
3 | g.133756983A>G | CA354604996 | TF | c.844A>G (p.Ile282Val) c.209A>G (p.Asp70Gly) c.712A>G (p.Ile238Val) c.463A>G (p.Ile155Val) | |
3 | g.133756983A>T | CA354604997 | TF | c.844A>T (p.Ile282Phe) c.209A>T (p.Asp70Val) c.712A>T (p.Ile238Phe) c.463A>T (p.Ile155Phe) | |
3 | g.133756984T>A | CA354604998 | TF | c.845T>A (p.Ile282Asn) c.210T>A (p.Asp70Glu) c.713T>A (p.Ile238Asn) c.464T>A (p.Ile155Asn) | |
3 | g.133756984T>C | CA354604999 | TF | c.845T>C (p.Ile282Thr) c.210T>C (p.Asp70=) c.713T>C (p.Ile238Thr) c.464T>C (p.Ile155Thr) | dbSNP gnomAD v4 |
3 | g.133756984T>G | CA354605000 | TF | c.845T>G (p.Ile282Ser) c.210T>G (p.Asp70Glu) c.713T>G (p.Ile238Ser) c.464T>G (p.Ile155Ser) | |
3 | g.133756984T= | CA1403107443 | TF | c.845T= (p.Ile282=) c.210T= (p.Asp70=) c.713T= (p.Ile238=) c.464T= (p.Ile155=) | |
3 | g.133756985C>A | CA435806685 | TF | c.846C>A (p.Ile282=) c.211C>A (p.Leu71Met) c.714C>A (p.Ile238=) c.465C>A (p.Ile155=) | |
3 | g.133756985C= | CA1403107445 | TF | c.846C= (p.Ile282=) c.211C= (p.Leu71=) c.714C= (p.Ile238=) c.465C= (p.Ile155=) | |
3 | g.133756985C>G | CA2625111 | TF | c.846C>G (p.Ile282Met) c.211C>G (p.Leu71Val) c.714C>G (p.Ile238Met) c.465C>G (p.Ile155Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756985C>T | CA435806684 | TF | c.846C>T (p.Ile282=) c.211C>T (p.Leu71=) c.714C>T (p.Ile238=) c.465C>T (p.Ile155=) | |
3 | g.133756986T>A | CA354605002 | TF | c.847T>A (p.Trp283Arg) c.212T>A (p.Leu71Gln) c.715T>A (p.Trp239Arg) c.466T>A (p.Trp156Arg) | |
3 | g.133756986T>C | CA2625112 | TF | c.847T>C (p.Trp283Arg) c.212T>C (p.Leu71Pro) c.715T>C (p.Trp239Arg) c.466T>C (p.Trp156Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756986T>G | CA354605001 | TF | c.847T>G (p.Trp283Gly) c.212T>G (p.Leu71Arg) c.715T>G (p.Trp239Gly) c.466T>G (p.Trp156Gly) | |
3 | g.133756986T= | CA1403107450 | TF | c.847T= (p.Trp283=) c.212T= (p.Leu71=) c.715T= (p.Trp239=) c.466T= (p.Trp156=) | |
3 | g.133756987G>A | CA354605003 | TF | c.848G>A (p.Trp283Ter) c.213G>A (p.Leu71=) c.716G>A (p.Trp239Ter) c.467G>A (p.Trp156Ter) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133756987G>C | CA354605004 | TF | c.848G>C (p.Trp283Ser) c.213G>C (p.Leu71=) c.716G>C (p.Trp239Ser) c.467G>C (p.Trp156Ser) | |
3 | g.133756987G= | CA1403107451 | TF | c.848G= (p.Trp283=) c.213G= (p.Leu71=) c.716G= (p.Trp239=) c.467G= (p.Trp156=) | |
3 | g.133756987G>T | CA354605005 | TF | c.848G>T (p.Trp283Leu) c.213G>T (p.Leu71=) c.716G>T (p.Trp239Leu) c.467G>T (p.Trp156Leu) | |
3 | g.133756988G>A | CA354605006 | TF | c.849G>A (p.Trp283Ter) c.214G>A (p.Gly72Arg) c.717G>A (p.Trp239Ter) c.468G>A (p.Trp156Ter) | gnomAD v4 |
3 | g.133756988G>C | CA354605007 | TF | c.849G>C (p.Trp283Cys) c.214G>C (p.Gly72Arg) c.717G>C (p.Trp239Cys) c.468G>C (p.Trp156Cys) | |
3 | g.133756988G>T | CA354605008 | TF | c.849G>T (p.Trp283Cys) c.214G>T (p.Gly72Ter) c.717G>T (p.Trp239Cys) c.468G>T (p.Trp156Cys) | |
3 | g.133756989G>A | CA354605009 | TF | c.850G>A (p.Glu284Lys) c.215G>A (p.Gly72Glu) c.718G>A (p.Glu240Lys) c.469G>A (p.Glu157Lys) | |
3 | g.133756989G>C | CA354605010 | TF | c.850G>C (p.Glu284Gln) c.215G>C (p.Gly72Ala) c.718G>C (p.Glu240Gln) c.469G>C (p.Glu157Gln) | |
3 | g.133756989G>T | CA354605011 | TF | c.850G>T (p.Glu284Ter) c.215G>T (p.Gly72Val) c.718G>T (p.Glu240Ter) c.469G>T (p.Glu157Ter) | |
3 | g.133756990A= | CA1403107453 | TF | c.851A= (p.Glu284=) c.216A= (p.Gly72=) c.719A= (p.Glu240=) c.470A= (p.Glu157=) | |
3 | g.133756990A>C | CA354605012 | TF | c.851A>C (p.Glu284Ala) c.216A>C (p.Gly72=) c.719A>C (p.Glu240Ala) c.470A>C (p.Glu157Ala) | |
3 | g.133756990A>G | CA354605013 | TF | c.851A>G (p.Glu284Gly) c.216A>G (p.Gly72=) c.719A>G (p.Glu240Gly) c.470A>G (p.Glu157Gly) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133756990A>T | CA354605014 | TF | c.851A>T (p.Glu284Val) c.216A>T (p.Gly72=) c.719A>T (p.Glu240Val) c.470A>T (p.Glu157Val) | |
3 | g.133756991G>A | CA435806686 | TF | c.852G>A (p.Glu284=) c.217G>A (p.Ala73Thr) c.720G>A (p.Glu240=) c.471G>A (p.Glu157=) | |
3 | g.133756991G>C | CA354605016 | TF | c.852G>C (p.Glu284Asp) c.217G>C (p.Ala73Pro) c.720G>C (p.Glu240Asp) c.471G>C (p.Glu157Asp) | |
3 | g.133756991G>T | CA354605015 | TF | c.852G>T (p.Glu284Asp) c.217G>T (p.Ala73Ser) c.720G>T (p.Glu240Asp) c.471G>T (p.Glu157Asp) | |
3 | g.133756992C>A | CA354605017 | TF | c.853C>A (p.Leu285Ile) c.218C>A (p.Ala73Asp) c.721C>A (p.Leu241Ile) c.472C>A (p.Leu158Ile) | |
3 | g.133756992C= | CA1403107458 | TF | c.853C= (p.Leu285=) c.218C= (p.Ala73=) c.721C= (p.Leu241=) c.472C= (p.Leu158=) | |
3 | g.133756992C>G | CA354605018 | TF | c.853C>G (p.Leu285Val) c.218C>G (p.Ala73Gly) c.721C>G (p.Leu241Val) c.472C>G (p.Leu158Val) | |
3 | g.133756992C>T | CA2625113 | TF | c.853C>T (p.Leu285Phe) c.218C>T (p.Ala73Val) c.721C>T (p.Leu241Phe) c.472C>T (p.Leu158Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756993T>A | CA354605019 | TF | c.854T>A (p.Leu285His) c.219T>A (p.Ala73=) c.722T>A (p.Leu241His) c.473T>A (p.Leu158His) | |
3 | g.133756993T>C | CA354605020 | TF | c.854T>C (p.Leu285Pro) c.219T>C (p.Ala73=) c.722T>C (p.Leu241Pro) c.473T>C (p.Leu158Pro) | |
3 | g.133756993T>G | CA354605021 | TF | c.854T>G (p.Leu285Arg) c.219T>G (p.Ala73=) c.722T>G (p.Leu241Arg) c.473T>G (p.Leu158Arg) | |
3 | g.133756994T>A | CA435806687 | TF | c.855T>A (p.Leu285=) c.220T>A (p.Ser74Thr) c.723T>A (p.Leu241=) c.474T>A (p.Leu158=) | |
3 | g.133756994T>C | CA435806688 | TF | c.855T>C (p.Leu285=) c.220T>C (p.Ser74Pro) c.723T>C (p.Leu241=) c.474T>C (p.Leu158=) | |
3 | g.133756994T>G | CA435806689 | TF | c.855T>G (p.Leu285=) c.220T>G (p.Ser74Ala) c.723T>G (p.Leu241=) c.474T>G (p.Leu158=) | |
3 | g.133756995C>A | CA354605022 | TF | c.856C>A (p.Leu286Ile) c.221C>A (p.Ser74Tyr) c.724C>A (p.Leu242Ile) c.475C>A (p.Leu159Ile) | |
3 | g.133756995C>G | CA354605023 | TF | c.856C>G (p.Leu286Val) c.221C>G (p.Ser74Cys) c.724C>G (p.Leu242Val) c.475C>G (p.Leu159Val) | gnomAD v4 |
3 | g.133756995C>T | CA354605024 | TF | c.856C>T (p.Leu286Phe) c.221C>T (p.Ser74Phe) c.724C>T (p.Leu242Phe) c.475C>T (p.Leu159Phe) | |
3 | g.133756996T>A | CA354605025 | TF | c.857T>A (p.Leu286His) c.222T>A (p.Ser74=) c.725T>A (p.Leu242His) c.476T>A (p.Leu159His) | |
3 | g.133756996T>C | CA354605026 | TF | c.857T>C (p.Leu286Pro) c.222T>C (p.Ser74=) c.725T>C (p.Leu242Pro) c.476T>C (p.Leu159Pro) | |
3 | g.133756996T>G | CA354605027 | TF | c.857T>G (p.Leu286Arg) c.222T>G (p.Ser74=) c.725T>G (p.Leu242Arg) c.476T>G (p.Leu159Arg) | gnomAD v4 |
3 | g.133756997C>A | CA435806690 | TF | c.858C>A (p.Leu286=) c.223C>A (p.Gln75Lys) c.726C>A (p.Leu242=) c.477C>A (p.Leu159=) | |
3 | g.133756997C= | CA1403107463 | TF | c.858C= (p.Leu286=) c.223C= (p.Gln75=) c.726C= (p.Leu242=) c.477C= (p.Leu159=) | |
3 | g.133756997C>G | CA435806691 | TF | c.858C>G (p.Leu286=) c.223C>G (p.Gln75Glu) c.726C>G (p.Leu242=) c.477C>G (p.Leu159=) | |
3 | g.133756997C>T | CA435806692 | TF | c.858C>T (p.Leu286=) c.223C>T (p.Gln75Ter) c.726C>T (p.Leu242=) c.477C>T (p.Leu159=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756998A>C | CA354605029 | TF | c.859A>C (p.Asn287His) c.224A>C (p.Gln75Pro) c.727A>C (p.Asn243His) c.478A>C (p.Asn160His) | |
3 | g.133756998A>G | CA354605030 | TF | c.859A>G (p.Asn287Asp) c.224A>G (p.Gln75Arg) c.727A>G (p.Asn243Asp) c.478A>G (p.Asn160Asp) | |
3 | g.133756998A>T | CA354605028 | TF | c.859A>T (p.Asn287Tyr) c.224A>T (p.Gln75Leu) c.727A>T (p.Asn243Tyr) c.478A>T (p.Asn160Tyr) | |
3 | g.133756999A= | CA1403107469 | TF | c.860A= (p.Asn287=) c.225A= (p.Gln75=) c.728A= (p.Asn243=) c.479A= (p.Asn160=) | |
3 | g.133756999A>C | CA354605031 | TF | c.860A>C (p.Asn287Thr) c.225A>C (p.Gln75His) c.728A>C (p.Asn243Thr) c.479A>C (p.Asn160Thr) | |
3 | g.133756999A>G | CA2625114 | TF | c.860A>G (p.Asn287Ser) c.225A>G (p.Gln75=) c.728A>G (p.Asn243Ser) c.479A>G (p.Asn160Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756999A>T | CA354605032 | TF | c.860A>T (p.Asn287Ile) c.225A>T (p.Gln75His) c.728A>T (p.Asn243Ile) c.479A>T (p.Asn160Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133757000C>A | CA354605033 | TF | c.861C>A (p.Asn287Lys) c.226C>A (p.Pro76Thr) c.729C>A (p.Asn243Lys) c.480C>A (p.Asn160Lys) | |
3 | g.133757000C= | CA1403107478 | TF | c.861C= (p.Asn287=) c.226C= (p.Pro76=) c.729C= (p.Asn243=) c.480C= (p.Asn160=) | |
3 | g.133757000C>G | CA354605034 | TF | c.861C>G (p.Asn287Lys) c.226C>G (p.Pro76Ala) c.729C>G (p.Asn243Lys) c.480C>G (p.Asn160Lys) | gnomAD v4 |
3 | g.133757000C>T | CA435806695 | TF | c.861C>T (p.Asn287=) c.226C>T (p.Pro76Ser) c.729C>T (p.Asn243=) c.480C>T (p.Asn160=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133757001C>A | CA354605037 | TF | c.862C>A (p.Gln288Lys) c.227C>A (p.Pro76Gln) c.730C>A (p.Gln244Lys) c.481C>A (p.Gln161Lys) | dbSNP gnomAD v2 |
3 | g.133757001C= | CA1403107482 | TF | c.862C= (p.Gln288=) c.227C= (p.Pro76=) c.730C= (p.Gln244=) c.481C= (p.Gln161=) | |
3 | g.133757001C>G | CA354605035 | TF | c.862C>G (p.Gln288Glu) c.227C>G (p.Pro76Arg) c.730C>G (p.Gln244Glu) c.481C>G (p.Gln161Glu) | |
3 | g.133757001C>T | CA354605036 | TF | c.862C>T (p.Gln288Ter) c.227C>T (p.Pro76Leu) c.730C>T (p.Gln244Ter) c.481C>T (p.Gln161Ter) | |
3 | g.133757002A>C | CA354605038 | TF | c.863A>C (p.Gln288Pro) c.228A>C (p.Pro76=) c.731A>C (p.Gln244Pro) c.482A>C (p.Gln161Pro) | |
3 | g.133757002A>G | CA354605039 | TF | c.863A>G (p.Gln288Arg) c.228A>G (p.Pro76=) c.731A>G (p.Gln244Arg) c.482A>G (p.Gln161Arg) | |
3 | g.133757002A>T | CA354605040 | TF | c.863A>T (p.Gln288Leu) c.228A>T (p.Pro76=) c.731A>T (p.Gln244Leu) c.482A>T (p.Gln161Leu) | |
3 | g.133757003G>A | CA435806696 | TF | c.864G>A (p.Gln288=) c.229G>A (p.Gly77Ser) c.732G>A (p.Gln244=) c.483G>A (p.Gln161=) | gnomAD v4 |
3 | g.133757003G>C | CA354605041 | TF | c.864G>C (p.Gln288His) c.229G>C (p.Gly77Arg) c.732G>C (p.Gln244His) c.483G>C (p.Gln161His) | |
3 | g.133757003G= | CA1403107484 | TF | c.864G= (p.Gln288=) c.229G= (p.Gly77=) c.732G= (p.Gln244=) c.483G= (p.Gln161=) | |
3 | g.133757003G>T | CA2625115 | TF | c.864G>T (p.Gln288His) c.229G>T (p.Gly77Cys) c.732G>T (p.Gln244His) c.483G>T (p.Gln161His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133757004G>A | CA354605044 | TF | c.865G>A (p.Ala289Thr) c.230G>A (p.Gly77Asp) c.733G>A (p.Ala245Thr) c.484G>A (p.Ala162Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133757004G>C | CA354605043 | TF | c.865G>C (p.Ala289Pro) c.230G>C (p.Gly77Ala) c.733G>C (p.Ala245Pro) c.484G>C (p.Ala162Pro) | |
3 | g.133757004G= | CA1403107487 | TF | c.865G= (p.Ala289=) c.230G= (p.Gly77=) c.733G= (p.Ala245=) c.484G= (p.Ala162=) | |
3 | g.133757004G>T | CA354605042 | TF | c.865G>T (p.Ala289Ser) c.230G>T (p.Gly77Val) c.733G>T (p.Ala245Ser) c.484G>T (p.Ala162Ser) | dbSNP gnomAD v4 |
3 | g.133757005C>A | CA354605045 | TF | c.866C>A (p.Ala289Asp) c.231C>A (p.Gly77=) c.734C>A (p.Ala245Asp) c.485C>A (p.Ala162Asp) | |
3 | g.133757005C>G | CA354605047 | TF | c.866C>G (p.Ala289Gly) c.231C>G (p.Gly77=) c.734C>G (p.Ala245Gly) c.485C>G (p.Ala162Gly) | |
3 | g.133757005C>T | CA354605046 | TF | c.866C>T (p.Ala289Val) c.231C>T (p.Gly77=) c.734C>T (p.Ala245Val) c.485C>T (p.Ala162Val) | gnomAD v4 |
3 | g.133757007del | CA2667764515 | TF | c.868del (p.Gln290ArgfsTer?) c.233del (p.Pro78GlnfsTer?) c.736del (p.Gln246ArgfsTer?) c.487del (p.Gln163ArgfsTer?) | gnomAD v4 |
3 | g.133757006C>A | CA435806699 | TF | c.867C>A (p.Ala289=) c.232C>A (p.Pro78Thr) c.735C>A (p.Ala245=) c.486C>A (p.Ala162=) | |
3 | g.133757006C>G | CA435806697 | TF | c.867C>G (p.Ala289=) c.232C>G (p.Pro78Ala) c.735C>G (p.Ala245=) c.486C>G (p.Ala162=) | |
3 | g.133757006C>T | CA435806698 | TF | c.867C>T (p.Ala289=) c.232C>T (p.Pro78Ser) c.735C>T (p.Ala245=) c.486C>T (p.Ala162=) | |
3 | g.133757007C>A | CA354605048 | TF | c.868C>A (p.Gln290Lys) c.233C>A (p.Pro78Gln) c.736C>A (p.Gln246Lys) c.487C>A (p.Gln163Lys) | |
3 | g.133757007C= | CA1403107489 | TF | c.868C= (p.Gln290=) c.233C= (p.Pro78=) c.736C= (p.Gln246=) c.487C= (p.Gln163=) | |
3 | g.133757007C>G | CA354605049 | TF | c.868C>G (p.Gln290Glu) c.233C>G (p.Pro78Arg) c.736C>G (p.Gln246Glu) c.487C>G (p.Gln163Glu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133757007C>T | CA354605050 | TF | c.868C>T (p.Gln290Ter) c.233C>T (p.Pro78Leu) c.736C>T (p.Gln246Ter) c.487C>T (p.Gln163Ter) | |
3 | g.133757008A>C | CA354605051 | TF | c.869A>C (p.Gln290Pro) c.234A>C (p.Pro78=) c.737A>C (p.Gln246Pro) c.488A>C (p.Gln163Pro) | |
3 | g.133757008A>G | CA354605052 | TF | c.869A>G (p.Gln290Arg) c.234A>G (p.Pro78=) c.737A>G (p.Gln246Arg) c.488A>G (p.Gln163Arg) | COSMIC |
3 | g.133757008A>T | CA354605053 | TF | c.869A>T (p.Gln290Leu) c.234A>T (p.Pro78=) c.737A>T (p.Gln246Leu) c.488A>T (p.Gln163Leu) | |
3 | g.133757009G>A | CA435806700 | TF | c.870G>A (p.Gln290=) c.235G>A (p.Gly79Arg) c.738G>A (p.Gln246=) c.489G>A (p.Gln163=) | |
3 | g.133757009G>C | CA354605054 | TF | c.870G>C (p.Gln290His) c.235G>C (p.Gly79Arg) c.738G>C (p.Gln246His) c.489G>C (p.Gln163His) | |
3 | g.133757009G>T | CA354605055 | TF | c.870G>T (p.Gln290His) c.235G>T (p.Gly79Ter) c.738G>T (p.Gln246His) c.489G>T (p.Gln163His) | |
3 | g.133757010G>A | CA354605056 | TF | c.870+1G>A (n.870+1G>A) c.235+1G>A (n.235+1G>A) c.738+1G>A (n.738+1G>A) c.489+1G>A (n.489+1G>A) | |
3 | g.133757010G>C | CA354605057 | TF | c.870+1G>C (n.870+1G>C) c.235+1G>C (n.235+1G>C) c.738+1G>C (n.738+1G>C) c.489+1G>C (n.489+1G>C) | |
3 | g.133757010G>T | CA354605058 | TF | c.870+1G>T (n.870+1G>T) c.235+1G>T (n.235+1G>T) c.738+1G>T (n.738+1G>T) c.489+1G>T (n.489+1G>T) | |
3 | g.133757011T>A | CA354605061 | TF | c.870+2T>A (n.870+2T>A) c.235+2T>A (n.235+2T>A) c.738+2T>A (n.738+2T>A) c.489+2T>A (n.489+2T>A) | |
3 | g.133757011T>C | CA354605060 | TF | c.870+2T>C (n.870+2T>C) c.235+2T>C (n.235+2T>C) c.738+2T>C (n.738+2T>C) c.489+2T>C (n.489+2T>C) | |
3 | g.133757011T>G | CA354605059 | TF | c.870+2T>G (n.870+2T>G) c.235+2T>G (n.235+2T>G) c.738+2T>G (n.738+2T>G) c.489+2T>G (n.489+2T>G) | |
3 | g.133757012A>G | CA2667764516 | TF | c.870+3A>G (n.870+3A>G) c.235+3A>G (n.235+3A>G) c.738+3A>G (n.738+3A>G) c.489+3A>G (n.489+3A>G) | gnomAD v4 |
3 | g.133757012_133757013delinsAT | CA1403107493 | TF | c.870+3_870+4delinsAT (n.870+3_870+4delinsAT) c.235+3_235+4delinsAT (n.235+3_235+4delinsAT) c.738+3_738+4delinsAT (n.738+3_738+4delinsAT) c.489+3_489+4delinsAT (n.489+3_489+4delinsAT) | |
3 | g.133757012_133757013insCATTTTGGCAAAGACAAATCAAAAGAAT | CA2758487492 | TF | c.870+3_870+4insCATTTTGGCAAAGACAAATCAAAAGAAT (n.870+3_870+4insCATTTTGGCAAAGACAAATCAAAAGAAT) c.235+3_235+4insCATTTTGGCAAAGACAAATCAAAAGAAT (n.235+3_235+4insCATTTTGGCAAAGACAAATCAAAAGAAT) c.738+3_738+4insCATTTTGGCAAAGACAAATCAAAAGAAT (n.738+3_738+4insCATTTTGGCAAAGACAAATCAAAAGAAT) c.489+3_489+4insCATTTTGGCAAAGACAAATCAAAAGAAT (n.489+3_489+4insCATTTTGGCAAAGACAAATCAAAAGAAT) | |
3 | g.133757013del | CA2625116 | TF | c.870+4del (n.870+4del) c.235+4del (n.235+4del) c.738+4del (n.738+4del) c.489+4del (n.489+4del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133757013T>C | CA2667764517 | TF | c.870+4T>C (n.870+4T>C) c.235+4T>C (n.235+4T>C) c.738+4T>C (n.738+4T>C) c.489+4T>C (n.489+4T>C) | gnomAD v4 |
3 | g.133757013T>G | CA2577907212 | TF | c.870+4T>G (n.870+4T>G) c.235+4T>G (n.235+4T>G) c.738+4T>G (n.738+4T>G) c.489+4T>G (n.489+4T>G) | gnomAD v4 |
3 | g.133757015C>T | CA2667764518 | TF | c.870+6C>T (n.870+6C>T) c.235+6C>T (n.235+6C>T) c.738+6C>T (n.738+6C>T) c.489+6C>T (n.489+6C>T) | gnomAD v4 |
3 | g.133757016C>A | CA2667764519 | TF | c.870+7C>A (n.870+7C>A) c.235+7C>A (n.235+7C>A) c.738+7C>A (n.738+7C>A) c.489+7C>A (n.489+7C>A) | gnomAD v4 |
3 | g.133757016C= | CA1403107497 | TF | c.870+7C= (n.870+7C=) c.235+7C= (n.235+7C=) c.738+7C= (n.738+7C=) c.489+7C= (n.489+7C=) | |
3 | g.133757016C>T | CA1053728894 | TF | c.870+7C>T (n.870+7C>T) c.235+7C>T (n.235+7C>T) c.738+7C>T (n.738+7C>T) c.489+7C>T (n.489+7C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.133757017C>G | CA2667764520 | TF | c.870+8C>G (n.870+8C>G) c.235+8C>G (n.235+8C>G) c.738+8C>G (n.738+8C>G) c.489+8C>G (n.489+8C>G) | gnomAD v4 |
3 | g.133757018A>C | CA2667764521 | TF | c.870+9A>C (n.870+9A>C) c.235+9A>C (n.235+9A>C) c.738+9A>C (n.738+9A>C) c.489+9A>C (n.489+9A>C) | gnomAD v4 |
3 | g.133757019C= | CA1403107501 | TF | c.870+10C= (n.870+10C=) c.235+10C= (n.235+10C=) c.738+10C= (n.738+10C=) c.489+10C= (n.489+10C=) | |
3 | g.133757019C>G | CA2739278176 | TF | c.870+10C>G (n.870+10C>G) c.235+10C>G (n.235+10C>G) c.738+10C>G (n.738+10C>G) c.489+10C>G (n.489+10C>G) | ClinVar |
3 | g.133757019C>T | CA546420472 | TF | c.870+10C>T (n.870+10C>T) c.235+10C>T (n.235+10C>T) c.738+10C>T (n.738+10C>T) c.489+10C>T (n.489+10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.133757022G= | CA1403107502 | TF | c.870+13G= (n.870+13G=) c.235+13G= (n.235+13G=) c.738+13G= (n.738+13G=) c.489+13G= (n.489+13G=) | |
3 | g.133757022G>T | CA899193457 | TF | c.870+13G>T (n.870+13G>T) c.235+13G>T (n.235+13G>T) c.738+13G>T (n.738+13G>T) c.489+13G>T (n.489+13G>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133757023C= | CA1403107506 | TF | c.870+14C= (n.870+14C=) c.235+14C= (n.235+14C=) c.738+14C= (n.738+14C=) c.489+14C= (n.489+14C=) | |
3 | g.133757023C>T | CA1403107507 | TF | c.870+14C>T (n.870+14C>T) c.235+14C>T (n.235+14C>T) c.738+14C>T (n.738+14C>T) c.489+14C>T (n.489+14C>T) | dbSNP |
3 | g.133757024dup | CA2667764522 | TF | c.870+15dup (n.870+15dup) c.235+15dup (n.235+15dup) c.738+15dup (n.738+15dup) c.489+15dup (n.489+15dup) | gnomAD v4 |
3 | g.133757024C= | CA1403107508 | TF | c.870+15C= (n.870+15C=) c.235+15C= (n.235+15C=) c.738+15C= (n.738+15C=) c.489+15C= (n.489+15C=) | |
3 | g.133757024C>T | CA546420473 | TF | c.870+15C>T (n.870+15C>T) c.235+15C>T (n.235+15C>T) c.738+15C>T (n.738+15C>T) c.489+15C>T (n.489+15C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133757028C>A | CA2560949691 | TF | c.870+19C>A (n.870+19C>A) c.235+19C>A (n.235+19C>A) c.738+19C>A (n.738+19C>A) c.489+19C>A (n.489+19C>A) | |
3 | g.133757028C= | CA1403107510 | TF | c.870+19C= (n.870+19C=) c.235+19C= (n.235+19C=) c.738+19C= (n.738+19C=) c.489+19C= (n.489+19C=) | |
3 | g.133757028C>T | CA2625117 | TF | c.870+19C>T (n.870+19C>T) c.235+19C>T (n.235+19C>T) c.738+19C>T (n.738+19C>T) c.489+19C>T (n.489+19C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133757029T>C | CA2667764523 | TF | c.870+20T>C (n.870+20T>C) c.235+20T>C (n.235+20T>C) c.738+20T>C (n.738+20T>C) c.489+20T>C (n.489+20T>C) | gnomAD v4 |
3 | g.133757029T>G | CA2667764524 | TF | c.870+20T>G (n.870+20T>G) c.235+20T>G (n.235+20T>G) c.738+20T>G (n.738+20T>G) c.489+20T>G (n.489+20T>G) | gnomAD v4 |
3 | g.133757030C>A | CA546420474 | TF | c.870+21C>A (n.870+21C>A) c.235+21C>A (n.235+21C>A) c.738+21C>A (n.738+21C>A) c.489+21C>A (n.489+21C>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133757030C= | CA1403107515 | TF | c.870+21C= (n.870+21C=) c.235+21C= (n.235+21C=) c.738+21C= (n.738+21C=) c.489+21C= (n.489+21C=) | |
3 | g.133757030C>T | CA2667764525 | TF | c.870+21C>T (n.870+21C>T) c.235+21C>T (n.235+21C>T) c.738+21C>T (n.738+21C>T) c.489+21C>T (n.489+21C>T) | gnomAD v4 |
3 | g.133757033del | CA2520908348 | TF | c.870+24del (n.870+24del) c.235+24del (n.235+24del) c.738+24del (n.738+24del) c.489+24del (n.489+24del) | |
3 | g.133757032C>T | CA2667764526 | TF | c.870+23C>T (n.870+23C>T) c.235+23C>T (n.235+23C>T) c.738+23C>T (n.738+23C>T) c.489+23C>T (n.489+23C>T) | gnomAD v4 |
3 | g.133757035C= | CA1403107517 | TF | c.870+26C= (n.870+26C=) c.235+26C= (n.235+26C=) c.738+26C= (n.738+26C=) c.489+26C= (n.489+26C=) | |
3 | g.133757035C>G | CA2625118 | TF | c.870+26C>G (n.870+26C>G) c.235+26C>G (n.235+26C>G) c.738+26C>G (n.738+26C>G) c.489+26C>G (n.489+26C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133757036C>T | CA2667764527 | TF | c.870+27C>T (n.870+27C>T) c.235+27C>T (n.235+27C>T) c.738+27C>T (n.738+27C>T) c.489+27C>T (n.489+27C>T) | gnomAD v4 |
3 | g.133757039C>T | CA2758487493 | TF | c.870+30C>T (n.870+30C>T) c.235+30C>T (n.235+30C>T) c.738+30C>T (n.738+30C>T) c.489+30C>T (n.489+30C>T) | |
3 | g.133757041T>G | CA2667764528 | TF | c.870+32T>G (n.870+32T>G) c.235+32T>G (n.235+32T>G) c.738+32T>G (n.738+32T>G) c.489+32T>G (n.489+32T>G) | gnomAD v4 |
3 | g.133757042A= | CA1403107520 | TF | c.870+33A= (n.870+33A=) c.235+33A= (n.235+33A=) c.738+33A= (n.738+33A=) c.489+33A= (n.489+33A=) | |
3 | g.133757042A>G | CA546420475 | TF | c.870+33A>G (n.870+33A>G) c.235+33A>G (n.235+33A>G) c.738+33A>G (n.738+33A>G) c.489+33A>G (n.489+33A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133757042A>T | CA435806701 | TF | c.870+33A>T (n.870+33A>T) c.235+33A>T (n.235+33A>T) c.738+33A>T (n.738+33A>T) c.489+33A>T (n.489+33A>T) | dbSNP gnomAD v4 |
3 | g.133757043G>A | CA546420476 | TF | c.870+34G>A (n.870+34G>A) c.235+34G>A (n.235+34G>A) c.738+34G>A (n.738+34G>A) c.489+34G>A (n.489+34G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133757043G>C | CA2667764529 | TF | c.870+34G>C (n.870+34G>C) c.235+34G>C (n.235+34G>C) c.738+34G>C (n.738+34G>C) c.489+34G>C (n.489+34G>C) | gnomAD v4 |
3 | g.133757043G= | CA1403107523 | TF | c.870+34G= (n.870+34G=) c.235+34G= (n.235+34G=) c.738+34G= (n.738+34G=) c.489+34G= (n.489+34G=) | |
3 | g.133757046C>A | CA2577907213 | TF | c.870+37C>A (n.870+37C>A) c.235+37C>A (n.235+37C>A) c.738+37C>A (n.738+37C>A) c.489+37C>A (n.489+37C>A) | |
3 | g.133757047T>A | CA83674630 | TF | c.870+38T>A (n.870+38T>A) c.235+38T>A (n.235+38T>A) c.738+38T>A (n.738+38T>A) c.489+38T>A (n.489+38T>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133757047T= | CA1403107525 | TF | c.870+38T= (n.870+38T=) c.235+38T= (n.235+38T=) c.738+38T= (n.738+38T=) c.489+38T= (n.489+38T=) | |
3 | g.133757050C= | CA1403107529 | TF | c.870+41C= (n.870+41C=) c.235+41C= (n.235+41C=) c.738+41C= (n.738+41C=) c.489+41C= (n.489+41C=) | |
3 | g.133757050C>G | CA2625119 | TF | c.870+41C>G (n.870+41C>G) c.235+41C>G (n.235+41C>G) c.738+41C>G (n.738+41C>G) c.489+41C>G (n.489+41C>G) | dbSNP ExAC gnomAD v2 |
3 | g.133757055T>G | CA2625120 | TF | c.870+46T>G (n.870+46T>G) c.235+46T>G (n.235+46T>G) c.738+46T>G (n.738+46T>G) c.489+46T>G (n.489+46T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133757055T= | CA1403107532 | TF | c.870+46T= (n.870+46T=) c.235+46T= (n.235+46T=) c.738+46T= (n.738+46T=) c.489+46T= (n.489+46T=) | |
3 | g.133757056G>C | CA546420477 | TF | c.870+47G>C (n.870+47G>C) c.235+47G>C (n.235+47G>C) c.738+47G>C (n.738+47G>C) c.489+47G>C (n.489+47G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133757056G= | CA1403107533 | TF | c.870+47G= (n.870+47G=) c.235+47G= (n.235+47G=) c.738+47G= (n.738+47G=) c.489+47G= (n.489+47G=) | |
3 | g.133757056G>T | CA2758487494 | TF | c.870+47G>T (n.870+47G>T) c.235+47G>T (n.235+47G>T) c.738+47G>T (n.738+47G>T) c.489+47G>T (n.489+47G>T) | |
3 | g.133757060T>A | CA2625121 | TF | c.870+51T>A (n.870+51T>A) c.235+51T>A (n.235+51T>A) c.738+51T>A (n.738+51T>A) c.489+51T>A (n.489+51T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133757060T= | CA1403107534 | TF | c.870+51T= (n.870+51T=) c.235+51T= (n.235+51T=) c.738+51T= (n.738+51T=) c.489+51T= (n.489+51T=) | |
3 | g.133757061_133757062delinsTG | CA1403107535 | TF | c.870+52_870+53delinsTG (n.870+52_870+53delinsTG) c.235+52_235+53delinsTG (n.235+52_235+53delinsTG) c.738+52_738+53delinsTG (n.738+52_738+53delinsTG) c.489+52_489+53delinsTG (n.489+52_489+53delinsTG) | |
3 | g.133757066del | CA1403107536 | TF | c.870+57del (n.870+57del) c.235+57del (n.235+57del) c.738+57del (n.738+57del) c.489+57del (n.489+57del) | dbSNP |
3 | g.133757063G>A | CA2667764530 | TF | c.870+54G>A (n.870+54G>A) c.235+54G>A (n.235+54G>A) c.738+54G>A (n.738+54G>A) c.489+54G>A (n.489+54G>A) | gnomAD v4 |