Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.43846217A>C | CA425752331 | ABCG8 | c.228A>C (p.Thr76=) n.685A>C c.240A>C (p.Thr80=) c.12A>C (p.Thr4=) n.730A>C n.744A>C | |
2 | g.43846217A>G | CA425752329 | ABCG8 | c.228A>G (p.Thr76=) n.685A>G c.240A>G (p.Thr80=) c.12A>G (p.Thr4=) n.730A>G n.744A>G | |
2 | g.43846217A>T | CA425752327 | ABCG8 | c.228A>T (p.Thr76=) n.685A>T c.240A>T (p.Thr80=) c.12A>T (p.Thr4=) n.730A>T n.744A>T | gnomAD v4 |
2 | g.43846218T>A | CA346663509 | ABCG8 | c.229T>A (p.Ser77Thr) n.686T>A c.241T>A (p.Ser81Thr) c.13T>A (p.Ser5Thr) n.731T>A n.745T>A | |
2 | g.43846218T>C | CA346663510 | ABCG8 | c.229T>C (p.Ser77Pro) n.686T>C c.241T>C (p.Ser81Pro) c.13T>C (p.Ser5Pro) n.731T>C n.745T>C | |
2 | g.43846218T>G | CA346663511 | ABCG8 | c.229T>G (p.Ser77Ala) n.686T>G c.241T>G (p.Ser81Ala) c.13T>G (p.Ser5Ala) n.731T>G n.745T>G | |
2 | g.43846219C>A | CA346663514 | ABCG8 | c.230C>A (p.Ser77Tyr) n.687C>A c.242C>A (p.Ser81Tyr) c.14C>A (p.Ser5Tyr) n.732C>A n.746C>A | gnomAD v4 |
2 | g.43846219C>G | CA346663513 | ABCG8 | c.230C>G (p.Ser77Cys) n.687C>G c.242C>G (p.Ser81Cys) c.14C>G (p.Ser5Cys) n.732C>G n.746C>G | |
2 | g.43846219C>T | CA346663512 | ABCG8 | c.230C>T (p.Ser77Phe) n.687C>T c.242C>T (p.Ser81Phe) c.14C>T (p.Ser5Phe) n.732C>T n.746C>T | |
2 | g.43846220T>A | CA425752345 | ABCG8 | c.231T>A (p.Ser77=) n.688T>A c.243T>A (p.Ser81=) c.15T>A (p.Ser5=) n.733T>A n.747T>A | |
2 | g.43846220T>C | CA425752344 | ABCG8 | c.231T>C (p.Ser77=) n.688T>C c.243T>C (p.Ser81=) c.15T>C (p.Ser5=) n.733T>C n.747T>C | |
2 | g.43846220T>G | CA425752341 | ABCG8 | c.231T>G (p.Ser77=) n.688T>G c.243T>G (p.Ser81=) c.15T>G (p.Ser5=) n.733T>G n.747T>G | |
2 | g.43846221C>A | CA346663515 | ABCG8 | c.232C>A (p.Pro78Thr) n.689C>A c.244C>A (p.Pro82Thr) c.16C>A (p.Pro6Thr) n.734C>A n.748C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43846221C= | CA2493945134 | ABCG8 | c.232C= (p.Pro78=) n.689C= c.244C= (p.Pro82=) c.16C= (p.Pro6=) n.734C= n.748C= | |
2 | g.43846221C>G | CA346663516 | ABCG8 | c.232C>G (p.Pro78Ala) n.689C>G c.244C>G (p.Pro82Ala) c.16C>G (p.Pro6Ala) n.734C>G n.748C>G | |
2 | g.43846221C>T | CA1636945 | ABCG8 | c.232C>T (p.Pro78Ser) n.689C>T c.244C>T (p.Pro82Ser) c.16C>T (p.Pro6Ser) n.734C>T n.748C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43846222C>A | CA346663517 | ABCG8 | c.233C>A (p.Pro78His) n.690C>A c.245C>A (p.Pro82His) c.17C>A (p.Pro6His) n.735C>A n.749C>A | |
2 | g.43846222C>G | CA346663518 | ABCG8 | c.233C>G (p.Pro78Arg) n.690C>G c.245C>G (p.Pro82Arg) c.17C>G (p.Pro6Arg) n.735C>G n.749C>G | |
2 | g.43846222C>T | CA346663519 | ABCG8 | c.233C>T (p.Pro78Leu) n.690C>T c.245C>T (p.Pro82Leu) c.17C>T (p.Pro6Leu) n.735C>T n.749C>T | |
2 | g.43846223C>A | CA425752354 | ABCG8 | c.234C>A (p.Pro78=) n.691C>A c.246C>A (p.Pro82=) c.18C>A (p.Pro6=) n.736C>A n.750C>A | |
2 | g.43846223C= | CA2493945135 | ABCG8 | c.234C= (p.Pro78=) n.691C= c.246C= (p.Pro82=) c.18C= (p.Pro6=) n.736C= n.750C= | |
2 | g.43846223C>G | CA425752358 | ABCG8 | c.234C>G (p.Pro78=) n.691C>G c.246C>G (p.Pro82=) c.18C>G (p.Pro6=) n.736C>G n.750C>G | |
2 | g.43846223C>T | CA425752356 | ABCG8 | c.234C>T (p.Pro78=) n.691C>T c.246C>T (p.Pro82=) c.18C>T (p.Pro6=) n.736C>T n.750C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43846224A>C | CA346663520 | ABCG8 | c.235A>C (p.Ser79Arg) n.692A>C c.247A>C (p.Ser83Arg) c.19A>C (p.Ser7Arg) n.737A>C n.751A>C | |
2 | g.43846224A>G | CA346663521 | ABCG8 | c.235A>G (p.Ser79Gly) n.692A>G c.247A>G (p.Ser83Gly) c.19A>G (p.Ser7Gly) n.737A>G n.751A>G | |
2 | g.43846224A>T | CA346663522 | ABCG8 | c.235A>T (p.Ser79Cys) n.692A>T c.247A>T (p.Ser83Cys) c.19A>T (p.Ser7Cys) n.737A>T n.751A>T | |
2 | g.43846225G>A | CA346663523 | ABCG8 | c.236G>A (p.Ser79Asn) n.693G>A c.248G>A (p.Ser83Asn) c.20G>A (p.Ser7Asn) n.738G>A n.752G>A | |
2 | g.43846225G>C | CA346663524 | ABCG8 | c.236G>C (p.Ser79Thr) n.693G>C c.248G>C (p.Ser83Thr) c.20G>C (p.Ser7Thr) n.738G>C n.752G>C | |
2 | g.43846225G>T | CA346663525 | ABCG8 | c.236G>T (p.Ser79Ile) n.693G>T c.248G>T (p.Ser83Ile) c.20G>T (p.Ser7Ile) n.738G>T n.752G>T | |
2 | g.43846225_43846230del | CA2544520116 | ABCG8 | c.236_241del (p.Ser79_Gln81delinsLys) n.693_698del c.248_253del (p.Ser83_Gln85delinsLys) c.20_25del (p.Ser7_Gln9delinsLys) n.738_743del n.752_757del | |
2 | g.43846226C>A | CA346663526 | ABCG8 | c.237C>A (p.Ser79Arg) n.694C>A c.249C>A (p.Ser83Arg) c.21C>A (p.Ser7Arg) n.739C>A n.753C>A | |
2 | g.43846226C>G | CA346663527 | ABCG8 | c.237C>G (p.Ser79Arg) n.694C>G c.249C>G (p.Ser83Arg) c.21C>G (p.Ser7Arg) n.739C>G n.753C>G | |
2 | g.43846226C>T | CA425752369 | ABCG8 | c.237C>T (p.Ser79=) n.694C>T c.249C>T (p.Ser83=) c.21C>T (p.Ser7=) n.739C>T n.753C>T | gnomAD v4 |
2 | g.43846227T>A | CA346663529 | ABCG8 | c.238T>A (p.Cys80Ser) n.695T>A c.250T>A (p.Cys84Ser) c.22T>A (p.Cys8Ser) n.740T>A n.754T>A | |
2 | g.43846227T>C | CA346663530 | ABCG8 | c.238T>C (p.Cys80Arg) n.695T>C c.250T>C (p.Cys84Arg) c.22T>C (p.Cys8Arg) n.740T>C n.754T>C | gnomAD v4 |
2 | g.43846227T>G | CA346663528 | ABCG8 | c.238T>G (p.Cys80Gly) n.695T>G c.250T>G (p.Cys84Gly) c.22T>G (p.Cys8Gly) n.740T>G n.754T>G | |
2 | g.43846228G>A | CA1636946 | ABCG8 | c.239G>A (p.Cys80Tyr) n.696G>A c.251G>A (p.Cys84Tyr) c.23G>A (p.Cys8Tyr) n.741G>A n.755G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43846228G>C | CA346663531 | ABCG8 | c.239G>C (p.Cys80Ser) n.696G>C c.251G>C (p.Cys84Ser) c.23G>C (p.Cys8Ser) n.741G>C n.755G>C | |
2 | g.43846228G= | CA2493945136 | ABCG8 | c.239G= (p.Cys80=) n.696G= c.251G= (p.Cys84=) c.23G= (p.Cys8=) n.741G= n.755G= | |
2 | g.43846228G>T | CA346663532 | ABCG8 | c.239G>T (p.Cys80Phe) n.696G>T c.251G>T (p.Cys84Phe) c.23G>T (p.Cys8Phe) n.741G>T n.755G>T | |
2 | g.43846229C>A | CA346663533 | ABCG8 | c.240C>A (p.Cys80Ter) n.697C>A c.252C>A (p.Cys84Ter) c.24C>A (p.Cys8Ter) n.742C>A n.756C>A | |
2 | g.43846229C>G | CA346663534 | ABCG8 | c.240C>G (p.Cys80Trp) n.697C>G c.252C>G (p.Cys84Trp) c.24C>G (p.Cys8Trp) n.742C>G n.756C>G | |
2 | g.43846229C>T | CA425752377 | ABCG8 | c.240C>T (p.Cys80=) n.697C>T c.252C>T (p.Cys84=) c.24C>T (p.Cys8=) n.742C>T n.756C>T | gnomAD v4 COSMIC |
2 | g.43846230C>A | CA346663535 | ABCG8 | c.241C>A (p.Gln81Lys) n.698C>A c.253C>A (p.Gln85Lys) c.25C>A (p.Gln9Lys) n.743C>A n.757C>A | |
2 | g.43846230C= | CA2493945137 | ABCG8 | c.241C= (p.Gln81=) n.698C= c.253C= (p.Gln85=) c.25C= (p.Gln9=) n.743C= n.757C= | |
2 | g.43846230C>G | CA346663536 | ABCG8 | c.241C>G (p.Gln81Glu) n.698C>G c.253C>G (p.Gln85Glu) c.25C>G (p.Gln9Glu) n.743C>G n.757C>G | |
2 | g.43846230C>T | CA346663537 | ABCG8 | c.241C>T (p.Gln81Ter) n.698C>T c.253C>T (p.Gln85Ter) c.25C>T (p.Gln9Ter) n.743C>T n.757C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43846231A>C | CA346663538 | ABCG8 | c.242A>C (p.Gln81Pro) n.699A>C c.254A>C (p.Gln85Pro) c.26A>C (p.Gln9Pro) n.744A>C n.758A>C | |
2 | g.43846231A>G | CA346663539 | ABCG8 | c.242A>G (p.Gln81Arg) n.699A>G c.254A>G (p.Gln85Arg) c.26A>G (p.Gln9Arg) n.744A>G n.758A>G | |
2 | g.43846231A>T | CA346663540 | ABCG8 | c.242A>T (p.Gln81Leu) n.699A>T c.254A>T (p.Gln85Leu) c.26A>T (p.Gln9Leu) n.744A>T n.758A>T | |
2 | g.43846232G>A | CA425752388 | ABCG8 | c.243G>A (p.Gln81=) n.700G>A c.255G>A (p.Gln85=) c.27G>A (p.Gln9=) n.745G>A n.759G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43846232G>C | CA346663541 | ABCG8 | c.243G>C (p.Gln81His) n.700G>C c.255G>C (p.Gln85His) c.27G>C (p.Gln9His) n.745G>C n.759G>C | |
2 | g.43846232G= | CA2493945138 | ABCG8 | c.243G= (p.Gln81=) n.700G= c.255G= (p.Gln85=) c.27G= (p.Gln9=) n.745G= n.759G= | |
2 | g.43846232G>T | CA346663542 | ABCG8 | c.243G>T (p.Gln81His) n.700G>T c.255G>T (p.Gln85His) c.27G>T (p.Gln9His) n.745G>T n.759G>T | |
2 | g.43846233A>C | CA346663545 | ABCG8 | c.244A>C (p.Asn82His) n.701A>C c.256A>C (p.Asn86His) c.28A>C (p.Asn10His) n.746A>C n.760A>C | |
2 | g.43846233A>G | CA346663543 | ABCG8 | c.244A>G (p.Asn82Asp) n.701A>G c.256A>G (p.Asn86Asp) c.28A>G (p.Asn10Asp) n.746A>G n.760A>G | |
2 | g.43846233A>T | CA346663544 | ABCG8 | c.244A>T (p.Asn82Tyr) n.701A>T c.256A>T (p.Asn86Tyr) c.28A>T (p.Asn10Tyr) n.746A>T n.760A>T | |
2 | g.43846234A>C | CA346663546 | ABCG8 | c.245A>C (p.Asn82Thr) n.702A>C c.257A>C (p.Asn86Thr) c.29A>C (p.Asn10Thr) n.747A>C n.761A>C | |
2 | g.43846234A>G | CA346663547 | ABCG8 | c.245A>G (p.Asn82Ser) n.702A>G c.257A>G (p.Asn86Ser) c.29A>G (p.Asn10Ser) n.747A>G n.761A>G | |
2 | g.43846234A>T | CA346663548 | ABCG8 | c.245A>T (p.Asn82Ile) n.702A>T c.257A>T (p.Asn86Ile) c.29A>T (p.Asn10Ile) n.747A>T n.761A>T | |
2 | g.43846235T>A | CA346663549 | ABCG8 | c.246T>A (p.Asn82Lys) n.703T>A c.258T>A (p.Asn86Lys) c.30T>A (p.Asn10Lys) n.748T>A n.762T>A | |
2 | g.43846235T>C | CA425752400 | ABCG8 | c.246T>C (p.Asn82=) n.703T>C c.258T>C (p.Asn86=) c.30T>C (p.Asn10=) n.748T>C n.762T>C | |
2 | g.43846235T>G | CA346663550 | ABCG8 | c.246T>G (p.Asn82Lys) n.703T>G c.258T>G (p.Asn86Lys) c.30T>G (p.Asn10Lys) n.748T>G n.762T>G | |
2 | g.43846236T>A | CA346663551 | ABCG8 | c.247T>A (p.Ser83Thr) n.704T>A c.259T>A (p.Ser87Thr) c.31T>A (p.Ser11Thr) n.749T>A n.763T>A | |
2 | g.43846236T>C | CA346663552 | ABCG8 | c.247T>C (p.Ser83Pro) n.704T>C c.259T>C (p.Ser87Pro) c.31T>C (p.Ser11Pro) n.749T>C n.763T>C | |
2 | g.43846236T>G | CA346663553 | ABCG8 | c.247T>G (p.Ser83Ala) n.704T>G c.259T>G (p.Ser87Ala) c.31T>G (p.Ser11Ala) n.749T>G n.763T>G | gnomAD v4 |
2 | g.43846237C>A | CA346663554 | ABCG8 | c.248C>A (p.Ser83Tyr) n.705C>A c.260C>A (p.Ser87Tyr) c.32C>A (p.Ser11Tyr) n.750C>A n.764C>A | |
2 | g.43846237C= | CA2493945139 | ABCG8 | c.248C= (p.Ser83=) n.705C= c.260C= (p.Ser87=) c.32C= (p.Ser11=) n.750C= n.764C= | |
2 | g.43846237C>G | CA346663555 | ABCG8 | c.248C>G (p.Ser83Cys) n.705C>G c.260C>G (p.Ser87Cys) c.32C>G (p.Ser11Cys) n.750C>G n.764C>G | |
2 | g.43846237C>T | CA1636947 | ABCG8 | c.248C>T (p.Ser83Phe) n.705C>T c.260C>T (p.Ser87Phe) c.32C>T (p.Ser11Phe) n.750C>T n.764C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43846238T>A | CA425752412 | ABCG8 | c.249T>A (p.Ser83=) n.706T>A c.261T>A (p.Ser87=) c.33T>A (p.Ser11=) n.751T>A n.765T>A | |
2 | g.43846238T>C | CA425752414 | ABCG8 | c.249T>C (p.Ser83=) n.706T>C c.261T>C (p.Ser87=) c.33T>C (p.Ser11=) n.751T>C n.765T>C | |
2 | g.43846238T>G | CA425752410 | ABCG8 | c.249T>G (p.Ser83=) n.706T>G c.261T>G (p.Ser87=) c.33T>G (p.Ser11=) n.751T>G n.765T>G | |
2 | g.43846238T= | CA2493945140 | ABCG8 | c.249T= (p.Ser83=) n.706T= c.261T= (p.Ser87=) c.33T= (p.Ser11=) n.751T= n.765T= | |
2 | g.43846239T>A | CA346663558 | ABCG8 | c.250T>A (p.Cys84Ser) n.707T>A c.262T>A (p.Cys88Ser) c.34T>A (p.Cys12Ser) n.752T>A n.766T>A | |
2 | g.43846239T>C | CA346663557 | ABCG8 | c.250T>C (p.Cys84Arg) n.707T>C c.262T>C (p.Cys88Arg) c.34T>C (p.Cys12Arg) n.752T>C n.766T>C | |
2 | g.43846239T>G | CA346663556 | ABCG8 | c.250T>G (p.Cys84Gly) n.707T>G c.262T>G (p.Cys88Gly) c.34T>G (p.Cys12Gly) n.752T>G n.766T>G | |
2 | g.43846239_43846269dup | CA532703135 | ABCG8 | c.250_280dup (p.Lys94MetfsTer2) n.707_737dup c.262_292dup (p.Lys98MetfsTer2) c.34_64dup (p.Lys22MetfsTer2) n.752_782dup n.766_796dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43846240G>A | CA346663559 | ABCG8 | c.251G>A (p.Cys84Tyr) n.708G>A c.263G>A (p.Cys88Tyr) c.35G>A (p.Cys12Tyr) n.753G>A n.767G>A | gnomAD v4 |
2 | g.43846240G>C | CA346663561 | ABCG8 | c.251G>C (p.Cys84Ser) n.708G>C c.263G>C (p.Cys88Ser) c.35G>C (p.Cys12Ser) n.753G>C n.767G>C | |
2 | g.43846240G>T | CA346663560 | ABCG8 | c.251G>T (p.Cys84Phe) n.708G>T c.263G>T (p.Cys88Phe) c.35G>T (p.Cys12Phe) n.753G>T n.767G>T | |
2 | g.43846241T>A | CA346663562 | ABCG8 | c.252T>A (p.Cys84Ter) n.709T>A c.264T>A (p.Cys88Ter) c.36T>A (p.Cys12Ter) n.754T>A n.768T>A | |
2 | g.43846241T>C | CA425752424 | ABCG8 | c.252T>C (p.Cys84=) n.709T>C c.264T>C (p.Cys88=) c.36T>C (p.Cys12=) n.754T>C n.768T>C | |
2 | g.43846241T>G | CA346663563 | ABCG8 | c.252T>G (p.Cys84Trp) n.709T>G c.264T>G (p.Cys88Trp) c.36T>G (p.Cys12Trp) n.754T>G n.768T>G | |
2 | g.43846242G>A | CA346663564 | ABCG8 | c.253G>A (p.Glu85Lys) n.710G>A c.265G>A (p.Glu89Lys) c.37G>A (p.Glu13Lys) n.755G>A n.769G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43846242G>C | CA346663565 | ABCG8 | c.253G>C (p.Glu85Gln) n.710G>C c.265G>C (p.Glu89Gln) c.37G>C (p.Glu13Gln) n.755G>C n.769G>C | |
2 | g.43846242G= | CA2493945141 | ABCG8 | c.253G= (p.Glu85=) n.710G= c.265G= (p.Glu89=) c.37G= (p.Glu13=) n.755G= n.769G= | |
2 | g.43846242G>T | CA346663566 | ABCG8 | c.253G>T (p.Glu85Ter) n.710G>T c.265G>T (p.Glu89Ter) c.37G>T (p.Glu13Ter) n.755G>T n.769G>T | |
2 | g.43846243A>C | CA346663567 | ABCG8 | c.254A>C (p.Glu85Ala) n.711A>C c.266A>C (p.Glu89Ala) c.38A>C (p.Glu13Ala) n.756A>C n.770A>C | |
2 | g.43846243A>G | CA346663568 | ABCG8 | c.254A>G (p.Glu85Gly) n.711A>G c.266A>G (p.Glu89Gly) c.38A>G (p.Glu13Gly) n.756A>G n.770A>G | |
2 | g.43846243A>T | CA346663569 | ABCG8 | c.254A>T (p.Glu85Val) n.711A>T c.266A>T (p.Glu89Val) c.38A>T (p.Glu13Val) n.756A>T n.770A>T | |
2 | g.43846244G>A | CA1636949 | ABCG8 | c.255G>A (p.Glu85=) n.712G>A c.267G>A (p.Glu89=) c.39G>A (p.Glu13=) n.757G>A n.771G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43846244G>C | CA346663570 | ABCG8 | c.255G>C (p.Glu85Asp) n.712G>C c.267G>C (p.Glu89Asp) c.39G>C (p.Glu13Asp) n.757G>C n.771G>C | |
2 | g.43846244G= | CA2493945142 | ABCG8 | c.255G= (p.Glu85=) n.712G= c.267G= (p.Glu89=) c.39G= (p.Glu13=) n.757G= n.771G= | |
2 | g.43846244G>T | CA1636948 | ABCG8 | c.255G>T (p.Glu85Asp) n.712G>T c.267G>T (p.Glu89Asp) c.39G>T (p.Glu13Asp) n.757G>T n.771G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43846245C>A | CA346663571 | ABCG8 | c.256C>A (p.Leu86Met) n.713C>A c.268C>A (p.Leu90Met) c.40C>A (p.Leu14Met) n.758C>A n.772C>A | |
2 | g.43846245C= | CA2493945143 | ABCG8 | c.256C= (p.Leu86=) n.713C= c.268C= (p.Leu90=) c.40C= (p.Leu14=) n.758C= n.772C= | |
2 | g.43846245C>G | CA346663572 | ABCG8 | c.256C>G (p.Leu86Val) n.713C>G c.268C>G (p.Leu90Val) c.40C>G (p.Leu14Val) n.758C>G n.772C>G | |
2 | g.43846245C>T | CA425752444 | ABCG8 | c.256C>T (p.Leu86=) n.713C>T c.268C>T (p.Leu90=) c.40C>T (p.Leu14=) n.758C>T n.772C>T | dbSNP gnomAD v4 |
2 | g.43846245dup | CA2586969105 | ABCG8 | c.256dup (p.Leu86ProfsTer?) n.713dup c.268dup (p.Leu90ProfsTer?) c.40dup (p.Leu14ProfsTer?) n.758dup n.772dup | |
2 | g.43846246T>A | CA346663575 | ABCG8 | c.257T>A (p.Leu86Gln) n.714T>A c.269T>A (p.Leu90Gln) c.41T>A (p.Leu14Gln) n.759T>A n.773T>A | |
2 | g.43846246T>C | CA346663574 | ABCG8 | c.257T>C (p.Leu86Pro) n.714T>C c.269T>C (p.Leu90Pro) c.41T>C (p.Leu14Pro) n.759T>C n.773T>C | gnomAD v4 |
2 | g.43846246T>G | CA346663573 | ABCG8 | c.257T>G (p.Leu86Arg) n.714T>G c.269T>G (p.Leu90Arg) c.41T>G (p.Leu14Arg) n.759T>G n.773T>G | |
2 | g.43846246_43846247insC | CA913184836 | ABCG8 | c.257_258insC (p.Ile88HisfsTer?) n.714_715insC c.269_270insC (p.Ile92HisfsTer?) c.41_42insC (p.Ile16HisfsTer?) n.759_760insC n.773_774insC | |
2 | g.43846247G>A | CA425752448 | ABCG8 | c.258G>A (p.Leu86=) n.715G>A c.270G>A (p.Leu90=) c.42G>A (p.Leu14=) n.760G>A n.774G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43846247G>C | CA425752450 | ABCG8 | c.258G>C (p.Leu86=) n.715G>C c.270G>C (p.Leu90=) c.42G>C (p.Leu14=) n.760G>C n.774G>C | |
2 | g.43846247G= | CA2493945144 | ABCG8 | c.258G= (p.Leu86=) n.715G= c.270G= (p.Leu90=) c.42G= (p.Leu14=) n.760G= n.774G= | |
2 | g.43846247G>T | CA425752452 | ABCG8 | c.258G>T (p.Leu86=) n.715G>T c.270G>T (p.Leu90=) c.42G>T (p.Leu14=) n.760G>T n.774G>T | gnomAD v4 |
2 | g.43846248G>A | CA346663576 | ABCG8 | c.259G>A (p.Gly87Ser) n.716G>A c.271G>A (p.Gly91Ser) c.43G>A (p.Gly15Ser) n.761G>A n.775G>A | |
2 | g.43846248G>C | CA346663577 | ABCG8 | c.259G>C (p.Gly87Arg) n.716G>C c.271G>C (p.Gly91Arg) c.43G>C (p.Gly15Arg) n.761G>C n.775G>C | |
2 | g.43846248G>T | CA346663578 | ABCG8 | c.259G>T (p.Gly87Cys) n.716G>T c.271G>T (p.Gly91Cys) c.43G>T (p.Gly15Cys) n.761G>T n.775G>T | |
2 | g.43846249G>A | CA346663579 | ABCG8 | c.260G>A (p.Gly87Asp) n.717G>A c.272G>A (p.Gly91Asp) c.44G>A (p.Gly15Asp) n.762G>A n.776G>A | COSMIC |
2 | g.43846249G>C | CA346663580 | ABCG8 | c.260G>C (p.Gly87Ala) n.717G>C c.272G>C (p.Gly91Ala) c.44G>C (p.Gly15Ala) n.762G>C n.776G>C | |
2 | g.43846249G>T | CA346663581 | ABCG8 | c.260G>T (p.Gly87Val) n.717G>T c.272G>T (p.Gly91Val) c.44G>T (p.Gly15Val) n.762G>T n.776G>T | |
2 | g.43846250C>A | CA425752459 | ABCG8 | c.261C>A (p.Gly87=) n.718C>A c.273C>A (p.Gly91=) c.45C>A (p.Gly15=) n.763C>A n.777C>A | |
2 | g.43846250C>G | CA425752461 | ABCG8 | c.261C>G (p.Gly87=) n.718C>G c.273C>G (p.Gly91=) c.45C>G (p.Gly15=) n.763C>G n.777C>G | |
2 | g.43846250C>T | CA425752462 | ABCG8 | c.261C>T (p.Gly87=) n.718C>T c.273C>T (p.Gly91=) c.45C>T (p.Gly15=) n.763C>T n.777C>T | |
2 | g.43846251A>C | CA346663582 | ABCG8 | c.262A>C (p.Ile88Leu) n.719A>C c.274A>C (p.Ile92Leu) c.46A>C (p.Ile16Leu) n.764A>C n.778A>C | |
2 | g.43846251A>G | CA346663583 | ABCG8 | c.262A>G (p.Ile88Val) n.719A>G c.274A>G (p.Ile92Val) c.46A>G (p.Ile16Val) n.764A>G n.778A>G | |
2 | g.43846251A>T | CA346663584 | ABCG8 | c.262A>T (p.Ile88Phe) n.719A>T c.274A>T (p.Ile92Phe) c.46A>T (p.Ile16Phe) n.764A>T n.778A>T | |
2 | g.43846252T>A | CA346663585 | ABCG8 | c.263T>A (p.Ile88Asn) n.720T>A c.275T>A (p.Ile92Asn) c.47T>A (p.Ile16Asn) n.765T>A n.779T>A | |
2 | g.43846252T>C | CA46434711 | ABCG8 | c.263T>C (p.Ile88Thr) n.720T>C c.275T>C (p.Ile92Thr) c.47T>C (p.Ile16Thr) n.765T>C n.779T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43846252T>G | CA346663586 | ABCG8 | c.263T>G (p.Ile88Ser) n.720T>G c.275T>G (p.Ile92Ser) c.47T>G (p.Ile16Ser) n.765T>G n.779T>G | |
2 | g.43846252T= | CA2493945145 | ABCG8 | c.263T= (p.Ile88=) n.720T= c.275T= (p.Ile92=) c.47T= (p.Ile16=) n.765T= n.779T= | |
2 | g.43846253C>A | CA425752473 | ABCG8 | c.264C>A (p.Ile88=) n.721C>A c.276C>A (p.Ile92=) c.48C>A (p.Ile16=) n.766C>A n.780C>A | |
2 | g.43846253C>G | CA346663587 | ABCG8 | c.264C>G (p.Ile88Met) n.721C>G c.276C>G (p.Ile92Met) c.48C>G (p.Ile16Met) n.766C>G n.780C>G | |
2 | g.43846253C>T | CA425752475 | ABCG8 | c.264C>T (p.Ile88=) n.721C>T c.276C>T (p.Ile92=) c.48C>T (p.Ile16=) n.766C>T n.780C>T | COSMIC |
2 | g.43846254C>A | CA1636951 | ABCG8 | c.265C>A (p.Gln89Lys) n.722C>A c.277C>A (p.Gln93Lys) c.49C>A (p.Gln17Lys) n.767C>A n.781C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43846254C= | CA2493945146 | ABCG8 | c.265C= (p.Gln89=) n.722C= c.277C= (p.Gln93=) c.49C= (p.Gln17=) n.767C= n.781C= | |
2 | g.43846254C>G | CA1636950 | ABCG8 | c.265C>G (p.Gln89Glu) n.722C>G c.277C>G (p.Gln93Glu) c.49C>G (p.Gln17Glu) n.767C>G n.781C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43846254C>T | CA346663588 | ABCG8 | c.265C>T (p.Gln89Ter) n.722C>T c.277C>T (p.Gln93Ter) c.49C>T (p.Gln17Ter) n.767C>T n.781C>T | dbSNP gnomAD v4 |
2 | g.43846255A>C | CA346663589 | ABCG8 | c.266A>C (p.Gln89Pro) n.723A>C c.278A>C (p.Gln93Pro) c.50A>C (p.Gln17Pro) n.768A>C n.782A>C | |
2 | g.43846255A>G | CA346663590 | ABCG8 | c.266A>G (p.Gln89Arg) n.723A>G c.278A>G (p.Gln93Arg) c.50A>G (p.Gln17Arg) n.768A>G n.782A>G | gnomAD v4 |
2 | g.43846255A>T | CA346663591 | ABCG8 | c.266A>T (p.Gln89Leu) n.723A>T c.278A>T (p.Gln93Leu) c.50A>T (p.Gln17Leu) n.768A>T n.782A>T | |
2 | g.43846256G>A | CA425752487 | ABCG8 | c.267G>A (p.Gln89=) n.724G>A c.279G>A (p.Gln93=) c.51G>A (p.Gln17=) n.769G>A n.783G>A | |
2 | g.43846256G>C | CA346663592 | ABCG8 | c.267G>C (p.Gln89His) n.724G>C c.279G>C (p.Gln93His) c.51G>C (p.Gln17His) n.769G>C n.783G>C | gnomAD v4 |
2 | g.43846256G>T | CA346663593 | ABCG8 | c.267G>T (p.Gln89His) n.724G>T c.279G>T (p.Gln93His) c.51G>T (p.Gln17His) n.769G>T n.783G>T | |
2 | g.43846257A>C | CA346663594 | ABCG8 | c.268A>C (p.Asn90His) n.725A>C c.280A>C (p.Asn94His) c.52A>C (p.Asn18His) n.770A>C n.784A>C | |
2 | g.43846257A>G | CA346663595 | ABCG8 | c.268A>G (p.Asn90Asp) n.725A>G c.280A>G (p.Asn94Asp) c.52A>G (p.Asn18Asp) n.770A>G n.784A>G | |
2 | g.43846257A>T | CA346663596 | ABCG8 | c.268A>T (p.Asn90Tyr) n.725A>T c.280A>T (p.Asn94Tyr) c.52A>T (p.Asn18Tyr) n.770A>T n.784A>T | |
2 | g.43846258A>C | CA346663597 | ABCG8 | c.269A>C (p.Asn90Thr) n.726A>C c.281A>C (p.Asn94Thr) c.53A>C (p.Asn18Thr) n.771A>C n.785A>C | |
2 | g.43846258A>G | CA346663598 | ABCG8 | c.269A>G (p.Asn90Ser) n.726A>G c.281A>G (p.Asn94Ser) c.53A>G (p.Asn18Ser) n.771A>G n.785A>G | |
2 | g.43846258A>T | CA346663599 | ABCG8 | c.269A>T (p.Asn90Ile) n.726A>T c.281A>T (p.Asn94Ile) c.53A>T (p.Asn18Ile) n.771A>T n.785A>T | |
2 | g.43846259C>A | CA346663601 | ABCG8 | c.270C>A (p.Asn90Lys) n.727C>A c.282C>A (p.Asn94Lys) c.54C>A (p.Asn18Lys) n.772C>A n.786C>A | |
2 | g.43846259C= | CA2493945147 | ABCG8 | c.270C= (p.Asn90=) n.727C= c.282C= (p.Asn94=) c.54C= (p.Asn18=) n.772C= n.786C= | |
2 | g.43846259C>G | CA346663600 | ABCG8 | c.270C>G (p.Asn90Lys) n.727C>G c.282C>G (p.Asn94Lys) c.54C>G (p.Asn18Lys) n.772C>G n.786C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.43846259C>T | CA1636952 | ABCG8 | c.270C>T (p.Asn90=) n.727C>T c.282C>T (p.Asn94=) c.54C>T (p.Asn18=) n.772C>T n.786C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43846260C>A | CA346663602 | ABCG8 | c.271C>A (p.Leu91Ile) n.728C>A c.283C>A (p.Leu95Ile) c.55C>A (p.Leu19Ile) n.773C>A n.787C>A | |
2 | g.43846260C= | CA2493945148 | ABCG8 | c.271C= (p.Leu91=) n.728C= c.283C= (p.Leu95=) c.55C= (p.Leu19=) n.773C= n.787C= | |
2 | g.43846260C>G | CA346663603 | ABCG8 | c.271C>G (p.Leu91Val) n.728C>G c.283C>G (p.Leu95Val) c.55C>G (p.Leu19Val) n.773C>G n.787C>G | gnomAD v4 |
2 | g.43846260C>T | CA1636953 | ABCG8 | c.271C>T (p.Leu91=) n.728C>T c.283C>T (p.Leu95=) c.55C>T (p.Leu19=) n.773C>T n.787C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43846261T>A | CA346663604 | ABCG8 | c.272T>A (p.Leu91Gln) n.729T>A c.284T>A (p.Leu95Gln) c.56T>A (p.Leu19Gln) n.774T>A n.788T>A | |
2 | g.43846261T>C | CA346663605 | ABCG8 | c.272T>C (p.Leu91Pro) n.729T>C c.284T>C (p.Leu95Pro) c.56T>C (p.Leu19Pro) n.774T>C n.788T>C | |
2 | g.43846261T>G | CA346663606 | ABCG8 | c.272T>G (p.Leu91Arg) n.729T>G c.284T>G (p.Leu95Arg) c.56T>G (p.Leu19Arg) n.774T>G n.788T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.43846261T= | CA2493945149 | ABCG8 | c.272T= (p.Leu91=) n.729T= c.284T= (p.Leu95=) c.56T= (p.Leu19=) n.774T= n.788T= | |
2 | g.43846262A>C | CA425752510 | ABCG8 | c.273A>C (p.Leu91=) n.730A>C c.285A>C (p.Leu95=) c.57A>C (p.Leu19=) n.775A>C n.789A>C | |
2 | g.43846262A>G | CA425752513 | ABCG8 | c.273A>G (p.Leu91=) n.730A>G c.285A>G (p.Leu95=) c.57A>G (p.Leu19=) n.775A>G n.789A>G | |
2 | g.43846262A>T | CA425752515 | ABCG8 | c.273A>T (p.Leu91=) n.730A>T c.285A>T (p.Leu95=) c.57A>T (p.Leu19=) n.775A>T n.789A>T | |
2 | g.43846263A>C | CA346663607 | ABCG8 | c.274A>C (p.Ser92Arg) n.731A>C c.286A>C (p.Ser96Arg) c.58A>C (p.Ser20Arg) n.776A>C n.790A>C | |
2 | g.43846263A>G | CA346663608 | ABCG8 | c.274A>G (p.Ser92Gly) n.731A>G c.286A>G (p.Ser96Gly) c.58A>G (p.Ser20Gly) n.776A>G n.790A>G | |
2 | g.43846263A>T | CA346663609 | ABCG8 | c.274A>T (p.Ser92Cys) n.731A>T c.286A>T (p.Ser96Cys) c.58A>T (p.Ser20Cys) n.776A>T n.790A>T | gnomAD v4 |
2 | g.43846264G>A | CA1636954 | ABCG8 | c.275G>A (p.Ser92Asn) n.732G>A c.287G>A (p.Ser96Asn) c.59G>A (p.Ser20Asn) n.777G>A n.791G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43846264G>C | CA346663610 | ABCG8 | c.275G>C (p.Ser92Thr) n.732G>C c.287G>C (p.Ser96Thr) c.59G>C (p.Ser20Thr) n.777G>C n.791G>C | |
2 | g.43846264G= | CA2493945150 | ABCG8 | c.275G= (p.Ser92=) n.732G= c.287G= (p.Ser96=) c.59G= (p.Ser20=) n.777G= n.791G= | |
2 | g.43846264G>T | CA346663611 | ABCG8 | c.275G>T (p.Ser92Ile) n.732G>T c.287G>T (p.Ser96Ile) c.59G>T (p.Ser20Ile) n.777G>T n.791G>T | |
2 | g.43846265C>A | CA346663612 | ABCG8 | c.276C>A (p.Ser92Arg) n.733C>A c.288C>A (p.Ser96Arg) c.60C>A (p.Ser20Arg) n.778C>A n.792C>A | |
2 | g.43846265C= | CA2493945151 | ABCG8 | c.276C= (p.Ser92=) n.733C= c.288C= (p.Ser96=) c.60C= (p.Ser20=) n.778C= n.792C= | |
2 | g.43846265C>G | CA1636955 | ABCG8 | c.276C>G (p.Ser92Arg) n.733C>G c.288C>G (p.Ser96Arg) c.60C>G (p.Ser20Arg) n.778C>G n.792C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43846265C>T | CA425752519 | ABCG8 | c.276C>T (p.Ser92=) n.733C>T c.288C>T (p.Ser96=) c.60C>T (p.Ser20=) n.778C>T n.792C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.43846266T>A | CA346663613 | ABCG8 | c.277T>A (p.Phe93Ile) n.734T>A c.289T>A (p.Phe97Ile) c.61T>A (p.Phe21Ile) n.779T>A n.793T>A | |
2 | g.43846266T>C | CA346663615 | ABCG8 | c.277T>C (p.Phe93Leu) n.734T>C c.289T>C (p.Phe97Leu) c.61T>C (p.Phe21Leu) n.779T>C n.793T>C | |
2 | g.43846266T>G | CA346663614 | ABCG8 | c.277T>G (p.Phe93Val) n.734T>G c.289T>G (p.Phe97Val) c.61T>G (p.Phe21Val) n.779T>G n.793T>G | |
2 | g.43846267T>A | CA346663616 | ABCG8 | c.278T>A (p.Phe93Tyr) n.735T>A c.290T>A (p.Phe97Tyr) c.62T>A (p.Phe21Tyr) n.780T>A n.794T>A | |
2 | g.43846267T>C | CA346663617 | ABCG8 | c.278T>C (p.Phe93Ser) n.735T>C c.290T>C (p.Phe97Ser) c.62T>C (p.Phe21Ser) n.780T>C n.794T>C | |
2 | g.43846267T>G | CA346663618 | ABCG8 | c.278T>G (p.Phe93Cys) n.735T>G c.290T>G (p.Phe97Cys) c.62T>G (p.Phe21Cys) n.780T>G n.794T>G | |
2 | g.43846268C>A | CA346663619 | ABCG8 | c.279C>A (p.Phe93Leu) n.736C>A c.291C>A (p.Phe97Leu) c.63C>A (p.Phe21Leu) n.781C>A n.795C>A | |
2 | g.43846268C= | CA2493945152 | ABCG8 | c.279C= (p.Phe93=) n.736C= c.291C= (p.Phe97=) c.63C= (p.Phe21=) n.781C= n.795C= | |
2 | g.43846268C>G | CA346663620 | ABCG8 | c.279C>G (p.Phe93Leu) n.736C>G c.291C>G (p.Phe97Leu) c.63C>G (p.Phe21Leu) n.781C>G n.795C>G | |
2 | g.43846268C>T | CA1636956 | ABCG8 | c.279C>T (p.Phe93=) n.736C>T c.291C>T (p.Phe97=) c.63C>T (p.Phe21=) n.781C>T n.795C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43846269A>C | CA346663621 | ABCG8 | c.280A>C (p.Lys94Gln) n.737A>C c.292A>C (p.Lys98Gln) c.64A>C (p.Lys22Gln) n.782A>C n.796A>C | |
2 | g.43846269A>G | CA346663622 | ABCG8 | c.280A>G (p.Lys94Glu) n.737A>G c.292A>G (p.Lys98Glu) c.64A>G (p.Lys22Glu) n.782A>G n.796A>G | |
2 | g.43846269A>T | CA346663623 | ABCG8 | c.280A>T (p.Lys94Ter) n.737A>T c.292A>T (p.Lys98Ter) c.64A>T (p.Lys22Ter) n.782A>T n.796A>T | gnomAD v4 |
2 | g.43846270A= | CA2493945153 | ABCG8 | c.281A= (p.Lys94=) n.738A= c.293A= (p.Lys98=) c.65A= (p.Lys22=) n.783A= n.797A= | |
2 | g.43846270A>C | CA346663624 | ABCG8 | c.281A>C (p.Lys94Thr) n.738A>C c.293A>C (p.Lys98Thr) c.65A>C (p.Lys22Thr) n.783A>C n.797A>C | |
2 | g.43846270A>G | CA1636957 | ABCG8 | c.281A>G (p.Lys94Arg) n.738A>G c.293A>G (p.Lys98Arg) c.65A>G (p.Lys22Arg) n.783A>G n.797A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43846270A>T | CA346663625 | ABCG8 | c.281A>T (p.Lys94Ile) n.738A>T c.293A>T (p.Lys98Ile) c.65A>T (p.Lys22Ile) n.783A>T n.797A>T | |
2 | g.43846271A= | CA2493945154 | ABCG8 | c.282A= (p.Lys94=) n.739A= c.294A= (p.Lys98=) c.66A= (p.Lys22=) n.784A= n.798A= | |
2 | g.43846271A>C | CA346663627 | ABCG8 | c.282A>C (p.Lys94Asn) n.739A>C c.294A>C (p.Lys98Asn) c.66A>C (p.Lys22Asn) n.784A>C n.798A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43846271A>G | CA425752523 | ABCG8 | c.282A>G (p.Lys94=) n.739A>G c.294A>G (p.Lys98=) c.66A>G (p.Lys22=) n.784A>G n.798A>G | |
2 | g.43846271A>T | CA346663626 | ABCG8 | c.282A>T (p.Lys94Asn) n.739A>T c.294A>T (p.Lys98Asn) c.66A>T (p.Lys22Asn) n.784A>T n.798A>T | |
2 | g.43846272G>A | CA346663628 | ABCG8 | c.283G>A (p.Val95Met) n.740G>A c.295G>A (p.Val99Met) c.67G>A (p.Val23Met) n.785G>A n.799G>A | |
2 | g.43846272G>C | CA346663629 | ABCG8 | c.283G>C (p.Val95Leu) n.740G>C c.295G>C (p.Val99Leu) c.67G>C (p.Val23Leu) n.785G>C n.799G>C | COSMIC |
2 | g.43846272G>T | CA346663630 | ABCG8 | c.283G>T (p.Val95Leu) n.740G>T c.295G>T (p.Val99Leu) c.67G>T (p.Val23Leu) n.785G>T n.799G>T | |
2 | g.43846273T>A | CA346663631 | ABCG8 | c.284T>A (p.Val95Glu) n.741T>A c.296T>A (p.Val99Glu) c.68T>A (p.Val23Glu) n.786T>A n.800T>A | |
2 | g.43846273T>C | CA346663632 | ABCG8 | c.284T>C (p.Val95Ala) n.741T>C c.296T>C (p.Val99Ala) c.68T>C (p.Val23Ala) n.786T>C n.800T>C | gnomAD v4 |
2 | g.43846273T>G | CA346663633 | ABCG8 | c.284T>G (p.Val95Gly) n.741T>G c.296T>G (p.Val99Gly) c.68T>G (p.Val23Gly) n.786T>G n.800T>G | ClinVar dbSNP gnomAD v4 |
2 | g.43846274G>A | CA425752526 | ABCG8 | c.285G>A (p.Val95=) n.742G>A c.297G>A (p.Val99=) c.69G>A (p.Val23=) n.787G>A n.801G>A | COSMIC |
2 | g.43846274G>C | CA1636958 | ABCG8 | c.285G>C (p.Val95=) n.742G>C c.297G>C (p.Val99=) c.69G>C (p.Val23=) n.787G>C n.801G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43846274G= | CA2493945155 | ABCG8 | c.285G= (p.Val95=) n.742G= c.297G= (p.Val99=) c.69G= (p.Val23=) n.787G= n.801G= | |
2 | g.43846274G>T | CA425752527 | ABCG8 | c.285G>T (p.Val95=) n.742G>T c.297G>T (p.Val99=) c.69G>T (p.Val23=) n.787G>T n.801G>T | |
2 | g.43846275A>C | CA425752529 | ABCG8 | c.286A>C (p.Arg96=) n.743A>C c.298A>C (p.Arg100=) c.70A>C (p.Arg24=) n.788A>C n.802A>C | |
2 | g.43846275A>G | CA346663634 | ABCG8 | c.286A>G (p.Arg96Gly) n.743A>G c.298A>G (p.Arg100Gly) c.70A>G (p.Arg24Gly) n.788A>G n.802A>G | |
2 | g.43846275A>T | CA346663635 | ABCG8 | c.286A>T (p.Arg96Ter) n.743A>T c.298A>T (p.Arg100Ter) c.70A>T (p.Arg24Ter) n.788A>T n.802A>T | |
2 | g.43846276G>A | CA346663636 | ABCG8 | c.287G>A (p.Arg96Lys) n.744G>A c.299G>A (p.Arg100Lys) c.71G>A (p.Arg24Lys) n.789G>A n.803G>A | gnomAD v4 |
2 | g.43846276G>C | CA346663637 | ABCG8 | c.287G>C (p.Arg96Thr) n.744G>C c.299G>C (p.Arg100Thr) c.71G>C (p.Arg24Thr) n.789G>C n.803G>C | |
2 | g.43846276G= | CA2493945156 | ABCG8 | c.287G= (p.Arg96=) n.744G= c.299G= (p.Arg100=) c.71G= (p.Arg24=) n.789G= n.803G= | |
2 | g.43846276G>T | CA346663638 | ABCG8 | c.287G>T (p.Arg96Ile) n.744G>T c.299G>T (p.Arg100Ile) c.71G>T (p.Arg24Ile) n.789G>T n.803G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43846277A= | CA2493945157 | ABCG8 | c.288A= (p.Arg96=) n.745A= c.300A= (p.Arg100=) c.72A= (p.Arg24=) n.790A= n.804A= | |
2 | g.43846277A>C | CA346663640 | ABCG8 | c.288A>C (p.Arg96Ser) n.745A>C c.300A>C (p.Arg100Ser) c.72A>C (p.Arg24Ser) n.790A>C n.804A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43846277A>G | CA425752531 | ABCG8 | c.288A>G (p.Arg96=) n.745A>G c.300A>G (p.Arg100=) c.72A>G (p.Arg24=) n.790A>G n.804A>G | COSMIC |
2 | g.43846277A>T | CA346663639 | ABCG8 | c.288A>T (p.Arg96Ser) n.745A>T c.300A>T (p.Arg100Ser) c.72A>T (p.Arg24Ser) n.790A>T n.804A>T | |
2 | g.43846278A= | CA2493945158 | ABCG8 | c.289A= (p.Ser97=) n.746A= c.301A= (p.Ser101=) c.73A= (p.Ser25=) n.791A= n.805A= | |
2 | g.43846278A>C | CA346663641 | ABCG8 | c.289A>C (p.Ser97Arg) n.746A>C c.301A>C (p.Ser101Arg) c.73A>C (p.Ser25Arg) n.791A>C n.805A>C | |
2 | g.43846278A>G | CA46434755 | ABCG8 | c.289A>G (p.Ser97Gly) n.746A>G c.301A>G (p.Ser101Gly) c.73A>G (p.Ser25Gly) n.791A>G n.805A>G | dbSNP |
2 | g.43846278A>T | CA346663642 | ABCG8 | c.289A>T (p.Ser97Cys) n.746A>T c.301A>T (p.Ser101Cys) c.73A>T (p.Ser25Cys) n.791A>T n.805A>T | |
2 | g.43846279G>A | CA346663643 | ABCG8 | c.290G>A (p.Ser97Asn) n.747G>A c.302G>A (p.Ser101Asn) c.74G>A (p.Ser25Asn) n.792G>A n.806G>A | |
2 | g.43846279G>C | CA346663644 | ABCG8 | c.290G>C (p.Ser97Thr) n.747G>C c.302G>C (p.Ser101Thr) c.74G>C (p.Ser25Thr) n.792G>C n.806G>C | |
2 | g.43846279G>T | CA346663645 | ABCG8 | c.290G>T (p.Ser97Ile) n.747G>T c.302G>T (p.Ser101Ile) c.74G>T (p.Ser25Ile) n.792G>T n.806G>T | |
2 | g.43846280T>A | CA346663646 | ABCG8 | c.291T>A (p.Ser97Arg) n.748T>A c.303T>A (p.Ser101Arg) c.75T>A (p.Ser25Arg) n.793T>A n.807T>A | |
2 | g.43846280T>C | CA1636959 | ABCG8 | c.291T>C (p.Ser97=) n.748T>C c.303T>C (p.Ser101=) c.75T>C (p.Ser25=) n.793T>C n.807T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43846280T>G | CA346663647 | ABCG8 | c.291T>G (p.Ser97Arg) n.748T>G c.303T>G (p.Ser101Arg) c.75T>G (p.Ser25Arg) n.793T>G n.807T>G | |
2 | g.43846280T= | CA2493945159 | ABCG8 | c.291T= (p.Ser97=) n.748T= c.303T= (p.Ser101=) c.75T= (p.Ser25=) n.793T= n.807T= | |
2 | g.43846281G>A | CA346663648 | ABCG8 | c.292G>A (p.Gly98Arg) n.749G>A c.304G>A (p.Gly102Arg) c.76G>A (p.Gly26Arg) n.794G>A n.808G>A | gnomAD v4 |
2 | g.43846281G>C | CA346663649 | ABCG8 | c.292G>C (p.Gly98Arg) n.749G>C c.304G>C (p.Gly102Arg) c.76G>C (p.Gly26Arg) n.794G>C n.808G>C | |
2 | g.43846281G>T | CA346663650 | ABCG8 | c.292G>T (p.Gly98Trp) n.749G>T c.304G>T (p.Gly102Trp) c.76G>T (p.Gly26Trp) n.794G>T n.808G>T | gnomAD v4 |
2 | g.43846283dup | CA2838212523 | ABCG8 | c.294dup (p.Gln99AlafsTer?) n.751dup c.306dup (p.Gln103AlafsTer?) c.78dup (p.Gln27AlafsTer?) n.796dup n.810dup | |
2 | g.43846283del | CA645518246 | ABCG8 | c.294del (p.Gln99ArgfsTer6) n.751del c.306del (p.Gln103ArgfsTer6) c.78del (p.Gln27ArgfsTer6) n.796del n.810del | gnomAD v4 COSMIC |
2 | g.43846282G>A | CA346663652 | ABCG8 | c.293G>A (p.Gly98Glu) n.750G>A c.305G>A (p.Gly102Glu) c.77G>A (p.Gly26Glu) n.795G>A n.809G>A | |
2 | g.43846282G>C | CA346663653 | ABCG8 | c.293G>C (p.Gly98Ala) n.750G>C c.305G>C (p.Gly102Ala) c.77G>C (p.Gly26Ala) n.795G>C n.809G>C | |
2 | g.43846282G>T | CA346663651 | ABCG8 | c.293G>T (p.Gly98Val) n.750G>T c.305G>T (p.Gly102Val) c.77G>T (p.Gly26Val) n.795G>T n.809G>T | gnomAD v4 |
2 | g.43846283G>A | CA425752538 | ABCG8 | c.294G>A (p.Gly98=) n.751G>A c.306G>A (p.Gly102=) c.78G>A (p.Gly26=) n.796G>A n.810G>A | gnomAD v4 |
2 | g.43846283G>C | CA425752540 | ABCG8 | c.294G>C (p.Gly98=) n.751G>C c.306G>C (p.Gly102=) c.78G>C (p.Gly26=) n.796G>C n.810G>C | |
2 | g.43846283G= | CA2493945160 | ABCG8 | c.294G= (p.Gly98=) n.751G= c.306G= (p.Gly102=) c.78G= (p.Gly26=) n.796G= n.810G= | |
2 | g.43846283G>T | CA425752539 | ABCG8 | c.294G>T (p.Gly98=) n.751G>T c.306G>T (p.Gly102=) c.78G>T (p.Gly26=) n.796G>T n.810G>T | dbSNP gnomAD v2 |
2 | g.43846284C>A | CA346663654 | ABCG8 | c.295C>A (p.Gln99Lys) n.752C>A c.307C>A (p.Gln103Lys) c.79C>A (p.Gln27Lys) n.797C>A n.811C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43846284C= | CA2493945161 | ABCG8 | c.295C= (p.Gln99=) n.752C= c.307C= (p.Gln103=) c.79C= (p.Gln27=) n.797C= n.811C= | |
2 | g.43846284C>G | CA346663655 | ABCG8 | c.295C>G (p.Gln99Glu) n.752C>G c.307C>G (p.Gln103Glu) c.79C>G (p.Gln27Glu) n.797C>G n.811C>G | gnomAD v4 |
2 | g.43846284C>T | CA346663656 | ABCG8 | c.295C>T (p.Gln99Ter) n.752C>T c.307C>T (p.Gln103Ter) c.79C>T (p.Gln27Ter) n.797C>T n.811C>T | ClinVar |
2 | g.43846285A>C | CA346663657 | ABCG8 | c.296A>C (p.Gln99Pro) n.753A>C c.308A>C (p.Gln103Pro) c.80A>C (p.Gln27Pro) n.798A>C n.812A>C | |
2 | g.43846285A>G | CA346663658 | ABCG8 | c.296A>G (p.Gln99Arg) n.753A>G c.308A>G (p.Gln103Arg) c.80A>G (p.Gln27Arg) n.798A>G n.812A>G | gnomAD v4 |
2 | g.43846285A>T | CA346663659 | ABCG8 | c.296A>T (p.Gln99Leu) n.753A>T c.308A>T (p.Gln103Leu) c.80A>T (p.Gln27Leu) n.798A>T n.812A>T | |
2 | g.43846286G>A | CA425752543 | ABCG8 | c.297G>A (p.Gln99=) n.754G>A c.309G>A (p.Gln103=) c.81G>A (p.Gln27=) n.799G>A n.813G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43846286G>C | CA346663660 | ABCG8 | c.297G>C (p.Gln99His) n.754G>C c.309G>C (p.Gln103His) c.81G>C (p.Gln27His) n.799G>C n.813G>C | |
2 | g.43846286G= | CA2493945162 | ABCG8 | c.297G= (p.Gln99=) n.754G= c.309G= (p.Gln103=) c.81G= (p.Gln27=) n.799G= n.813G= | |
2 | g.43846286G>T | CA346663661 | ABCG8 | c.297G>T (p.Gln99His) n.754G>T c.309G>T (p.Gln103His) c.81G>T (p.Gln27His) n.799G>T n.813G>T | dbSNP gnomAD v4 |
2 | g.43846287A= | CA2493945163 | ABCG8 | c.298A= (p.Met100=) n.755A= c.310A= (p.Met104=) c.82A= (p.Met28=) n.800A= n.814A= | |
2 | g.43846287A>C | CA346663662 | ABCG8 | c.298A>C (p.Met100Leu) n.755A>C c.310A>C (p.Met104Leu) c.82A>C (p.Met28Leu) n.800A>C n.814A>C | |
2 | g.43846287A>G | CA346663663 | ABCG8 | c.298A>G (p.Met100Val) n.755A>G c.310A>G (p.Met104Val) c.82A>G (p.Met28Val) n.800A>G n.814A>G | gnomAD v4 |
2 | g.43846287A>T | CA346663664 | ABCG8 | c.298A>T (p.Met100Leu) n.755A>T c.310A>T (p.Met104Leu) c.82A>T (p.Met28Leu) n.800A>T n.814A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43846288T>A | CA346663665 | ABCG8 | c.299T>A (p.Met100Lys) n.756T>A c.311T>A (p.Met104Lys) c.83T>A (p.Met28Lys) n.801T>A n.815T>A | |
2 | g.43846288T>C | CA346663666 | ABCG8 | c.299T>C (p.Met100Thr) n.756T>C c.311T>C (p.Met104Thr) c.83T>C (p.Met28Thr) n.801T>C n.815T>C | |
2 | g.43846288T>G | CA346663667 | ABCG8 | c.299T>G (p.Met100Arg) n.756T>G c.311T>G (p.Met104Arg) c.83T>G (p.Met28Arg) n.801T>G n.815T>G | |
2 | g.43846289G>A | CA346663669 | ABCG8 | c.300G>A (p.Met100Ile) n.757G>A c.312G>A (p.Met104Ile) c.84G>A (p.Met28Ile) n.802G>A n.816G>A | |
2 | g.43846289G>C | CA346663670 | ABCG8 | c.300G>C (p.Met100Ile) n.757G>C c.312G>C (p.Met104Ile) c.84G>C (p.Met28Ile) n.802G>C n.816G>C | |
2 | g.43846289G>T | CA346663668 | ABCG8 | c.300G>T (p.Met100Ile) n.757G>T c.312G>T (p.Met104Ile) c.84G>T (p.Met28Ile) n.802G>T n.816G>T | |
2 | g.43846290C>A | CA346663672 | ABCG8 | c.301C>A (p.Leu101Met) n.758C>A c.313C>A (p.Leu105Met) c.85C>A (p.Leu29Met) n.803C>A n.817C>A | |
2 | g.43846290C>G | CA346663671 | ABCG8 | c.301C>G (p.Leu101Val) n.758C>G c.313C>G (p.Leu105Val) c.85C>G (p.Leu29Val) n.803C>G n.817C>G | gnomAD v4 |
2 | g.43846290C>T | CA425752545 | ABCG8 | c.301C>T (p.Leu101=) n.758C>T c.313C>T (p.Leu105=) c.85C>T (p.Leu29=) n.803C>T n.817C>T | |
2 | g.43846291T>A | CA346663674 | ABCG8 | c.302T>A (p.Leu101Gln) n.759T>A c.314T>A (p.Leu105Gln) c.86T>A (p.Leu29Gln) n.804T>A n.818T>A | |
2 | g.43846291T>C | CA346663673 | ABCG8 | c.302T>C (p.Leu101Pro) n.759T>C c.314T>C (p.Leu105Pro) c.86T>C (p.Leu29Pro) n.804T>C n.818T>C | gnomAD v4 |
2 | g.43846291T>G | CA346663675 | ABCG8 | c.302T>G (p.Leu101Arg) n.759T>G c.314T>G (p.Leu105Arg) c.86T>G (p.Leu29Arg) n.804T>G n.818T>G | |
2 | g.43846292G>A | CA425752551 | ABCG8 | c.303G>A (p.Leu101=) n.760G>A c.315G>A (p.Leu105=) c.87G>A (p.Leu29=) n.805G>A n.819G>A | |
2 | g.43846292G>C | CA425752550 | ABCG8 | c.303G>C (p.Leu101=) n.760G>C c.315G>C (p.Leu105=) c.87G>C (p.Leu29=) n.805G>C n.819G>C | |
2 | g.43846292G>T | CA425752549 | ABCG8 | c.303G>T (p.Leu101=) n.760G>T c.315G>T (p.Leu105=) c.87G>T (p.Leu29=) n.805G>T n.819G>T | gnomAD v4 |
2 | g.43846293G>A | CA346663676 | ABCG8 | c.304G>A (p.Ala102Thr) n.761G>A c.316G>A (p.Ala106Thr) c.88G>A (p.Ala30Thr) n.806G>A n.820G>A | gnomAD v4 |
2 | g.43846293G>C | CA346663677 | ABCG8 | c.304G>C (p.Ala102Pro) n.761G>C c.316G>C (p.Ala106Pro) c.88G>C (p.Ala30Pro) n.806G>C n.820G>C | |
2 | g.43846293G>T | CA346663678 | ABCG8 | c.304G>T (p.Ala102Ser) n.761G>T c.316G>T (p.Ala106Ser) c.88G>T (p.Ala30Ser) n.806G>T n.820G>T | |
2 | g.43846294C>A | CA346663679 | ABCG8 | c.305C>A (p.Ala102Asp) n.762C>A c.317C>A (p.Ala106Asp) c.89C>A (p.Ala30Asp) n.807C>A n.821C>A | gnomAD v4 |
2 | g.43846294C>G | CA346663680 | ABCG8 | c.305C>G (p.Ala102Gly) n.762C>G c.317C>G (p.Ala106Gly) c.89C>G (p.Ala30Gly) n.807C>G n.821C>G | |
2 | g.43846294C>T | CA346663681 | ABCG8 | c.305C>T (p.Ala102Val) n.762C>T c.317C>T (p.Ala106Val) c.89C>T (p.Ala30Val) n.807C>T n.821C>T | gnomAD v4 |
2 | g.43846295C>A | CA425752555 | ABCG8 | c.306C>A (p.Ala102=) n.763C>A c.318C>A (p.Ala106=) c.90C>A (p.Ala30=) n.808C>A n.822C>A | |
2 | g.43846295C>G | CA425752556 | ABCG8 | c.306C>G (p.Ala102=) n.763C>G c.318C>G (p.Ala106=) c.90C>G (p.Ala30=) n.808C>G n.822C>G | |
2 | g.43846295C>T | CA425752557 | ABCG8 | c.306C>T (p.Ala102=) n.763C>T c.318C>T (p.Ala106=) c.90C>T (p.Ala30=) n.808C>T n.822C>T | |
2 | g.43846296A= | CA2493945164 | ABCG8 | c.307A= (p.Ile103=) n.764A= c.319A= (p.Ile107=) c.91A= (p.Ile31=) n.809A= n.823A= | |
2 | g.43846296A>C | CA346663682 | ABCG8 | c.307A>C (p.Ile103Leu) n.764A>C c.319A>C (p.Ile107Leu) c.91A>C (p.Ile31Leu) n.809A>C n.823A>C | |
2 | g.43846296A>G | CA346663683 | ABCG8 | c.307A>G (p.Ile103Val) n.764A>G c.319A>G (p.Ile107Val) c.91A>G (p.Ile31Val) n.809A>G n.823A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43846296A>T | CA346663684 | ABCG8 | c.307A>T (p.Ile103Phe) n.764A>T c.319A>T (p.Ile107Phe) c.91A>T (p.Ile31Phe) n.809A>T n.823A>T | |
2 | g.43846297T>A | CA346663685 | ABCG8 | c.308T>A (p.Ile103Asn) n.765T>A c.320T>A (p.Ile107Asn) c.92T>A (p.Ile31Asn) n.810T>A n.824T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.43846297T>C | CA346663686 | ABCG8 | c.308T>C (p.Ile103Thr) n.765T>C c.320T>C (p.Ile107Thr) c.92T>C (p.Ile31Thr) n.810T>C n.824T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43846297T>G | CA346663687 | ABCG8 | c.308T>G (p.Ile103Ser) n.765T>G c.320T>G (p.Ile107Ser) c.92T>G (p.Ile31Ser) n.810T>G n.824T>G | |
2 | g.43846297T= | CA2493945165 | ABCG8 | c.308T= (p.Ile103=) n.765T= c.320T= (p.Ile107=) c.92T= (p.Ile31=) n.810T= n.824T= | |
2 | g.43846298C>A | CA425752559 | ABCG8 | c.309C>A (p.Ile103=) n.766C>A c.321C>A (p.Ile107=) c.93C>A (p.Ile31=) n.811C>A n.825C>A | |
2 | g.43846298C>G | CA346663688 | ABCG8 | c.309C>G (p.Ile103Met) n.766C>G c.321C>G (p.Ile107Met) c.93C>G (p.Ile31Met) n.811C>G n.825C>G | |
2 | g.43846298C>T | CA425752560 | ABCG8 | c.309C>T (p.Ile103=) n.766C>T c.321C>T (p.Ile107=) c.93C>T (p.Ile31=) n.811C>T n.825C>T | |
2 | g.43846299A>C | CA346663689 | ABCG8 | c.310A>C (p.Ile104Leu) n.767A>C c.322A>C (p.Ile108Leu) c.94A>C (p.Ile32Leu) n.812A>C n.826A>C | |
2 | g.43846299A>G | CA346663691 | ABCG8 | c.310A>G (p.Ile104Val) n.767A>G c.322A>G (p.Ile108Val) c.94A>G (p.Ile32Val) n.812A>G n.826A>G | gnomAD v4 |
2 | g.43846299A>T | CA346663690 | ABCG8 | c.310A>T (p.Ile104Leu) n.767A>T c.322A>T (p.Ile108Leu) c.94A>T (p.Ile32Leu) n.812A>T n.826A>T | |
2 | g.43846300T>A | CA346663692 | ABCG8 | c.311T>A (p.Ile104Lys) n.768T>A c.323T>A (p.Ile108Lys) c.95T>A (p.Ile32Lys) n.813T>A n.827T>A | |
2 | g.43846300T>C | CA1636960 | ABCG8 | c.311T>C (p.Ile104Thr) n.768T>C c.323T>C (p.Ile108Thr) c.95T>C (p.Ile32Thr) n.813T>C n.827T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43846300T>G | CA346663693 | ABCG8 | c.311T>G (p.Ile104Arg) n.768T>G c.323T>G (p.Ile108Arg) c.95T>G (p.Ile32Arg) n.813T>G n.827T>G | |
2 | g.43846300T= | CA2493945166 | ABCG8 | c.311T= (p.Ile104=) n.768T= c.323T= (p.Ile108=) c.95T= (p.Ile32=) n.813T= n.827T= | |
2 | g.43846301A>C | CA425752562 | ABCG8 | c.312A>C (p.Ile104=) n.769A>C c.324A>C (p.Ile108=) c.96A>C (p.Ile32=) n.814A>C n.828A>C | |
2 | g.43846301A>G | CA346663694 | ABCG8 | c.312A>G (p.Ile104Met) n.769A>G c.324A>G (p.Ile108Met) c.96A>G (p.Ile32Met) n.814A>G n.828A>G | |
2 | g.43846301A>T | CA425752565 | ABCG8 | c.312A>T (p.Ile104=) n.769A>T c.324A>T (p.Ile108=) c.96A>T (p.Ile32=) n.814A>T n.828A>T | dbSNP |
2 | g.43846302G>A | CA346663695 | ABCG8 | c.313G>A (p.Gly105Arg) n.770G>A c.325G>A (p.Gly109Arg) c.97G>A (p.Gly33Arg) n.815G>A n.829G>A | gnomAD v4 |
2 | g.43846302G>C | CA346663696 | ABCG8 | c.313G>C (p.Gly105Arg) n.770G>C c.325G>C (p.Gly109Arg) c.97G>C (p.Gly33Arg) n.815G>C n.829G>C | gnomAD v4 |
2 | g.43846302G>T | CA346663697 | ABCG8 | c.313G>T (p.Gly105Trp) n.770G>T c.325G>T (p.Gly109Trp) c.97G>T (p.Gly33Trp) n.815G>T n.829G>T | |
2 | g.43846303G>A | CA46434794 | ABCG8 | c.314G>A (p.Gly105Glu) n.771G>A c.326G>A (p.Gly109Glu) c.98G>A (p.Gly33Glu) n.816G>A n.830G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43846303G>C | CA346663698 | ABCG8 | c.314G>C (p.Gly105Ala) n.771G>C c.326G>C (p.Gly109Ala) c.98G>C (p.Gly33Ala) n.816G>C n.830G>C | |
2 | g.43846303G= | CA2493945167 | ABCG8 | c.314G= (p.Gly105=) n.771G= c.326G= (p.Gly109=) c.98G= (p.Gly33=) n.816G= n.830G= | |
2 | g.43846303G>T | CA346663699 | ABCG8 | c.314G>T (p.Gly105Val) n.771G>T c.326G>T (p.Gly109Val) c.98G>T (p.Gly33Val) n.816G>T n.830G>T | |
2 | g.43846304G>A | CA425752567 | ABCG8 | c.315G>A (p.Gly105=) n.772G>A c.327G>A (p.Gly109=) c.99G>A (p.Gly33=) n.817G>A n.831G>A | |
2 | g.43846304G>C | CA425752568 | ABCG8 | c.315G>C (p.Gly105=) n.772G>C c.327G>C (p.Gly109=) c.99G>C (p.Gly33=) n.817G>C n.831G>C | |
2 | g.43846304G= | CA2493945168 | ABCG8 | c.315G= (p.Gly105=) n.772G= c.327G= (p.Gly109=) c.99G= (p.Gly33=) n.817G= n.831G= | |
2 | g.43846304G>T | CA425752569 | ABCG8 | c.315G>T (p.Gly105=) n.772G>T c.327G>T (p.Gly109=) c.99G>T (p.Gly33=) n.817G>T n.831G>T | dbSNP gnomAD v4 |
2 | g.43846305A>C | CA346663701 | ABCG8 | c.316A>C (p.Ser106Arg) n.773A>C c.328A>C (p.Ser110Arg) c.100A>C (p.Ser34Arg) n.818A>C n.832A>C | |
2 | g.43846305A>G | CA346663702 | ABCG8 | c.316A>G (p.Ser106Gly) n.773A>G c.328A>G (p.Ser110Gly) c.100A>G (p.Ser34Gly) n.818A>G n.832A>G | |
2 | g.43846305A>T | CA346663700 | ABCG8 | c.316A>T (p.Ser106Cys) n.773A>T c.328A>T (p.Ser110Cys) c.100A>T (p.Ser34Cys) n.818A>T n.832A>T | |
2 | g.43846306G>A | CA346663703 | ABCG8 | c.317G>A (p.Ser106Asn) n.774G>A c.329G>A (p.Ser110Asn) c.101G>A (p.Ser34Asn) n.819G>A n.833G>A | |
2 | g.43846306G>C | CA346663704 | ABCG8 | c.317G>C (p.Ser106Thr) n.774G>C c.329G>C (p.Ser110Thr) c.101G>C (p.Ser34Thr) n.819G>C n.833G>C | |
2 | g.43846306G>T | CA346663705 | ABCG8 | c.317G>T (p.Ser106Ile) n.774G>T c.329G>T (p.Ser110Ile) c.101G>T (p.Ser34Ile) n.819G>T n.833G>T | |
2 | g.43846307C>A | CA346663706 | ABCG8 | c.318C>A (p.Ser106Arg) n.775C>A c.330C>A (p.Ser110Arg) c.102C>A (p.Ser34Arg) n.820C>A n.834C>A | |
2 | g.43846307C>G | CA346663707 | ABCG8 | c.318C>G (p.Ser106Arg) n.775C>G c.330C>G (p.Ser110Arg) c.102C>G (p.Ser34Arg) n.820C>G n.834C>G | |
2 | g.43846307C>T | CA425752571 | ABCG8 | c.318C>T (p.Ser106=) n.775C>T c.330C>T (p.Ser110=) c.102C>T (p.Ser34=) n.820C>T n.834C>T | |
2 | g.43846308T>A | CA346663710 | ABCG8 | c.319T>A (p.Ser107Thr) n.776T>A c.331T>A (p.Ser111Thr) c.103T>A (p.Ser35Thr) n.821T>A n.835T>A | |
2 | g.43846308T>C | CA346663709 | ABCG8 | c.319T>C (p.Ser107Pro) n.776T>C c.331T>C (p.Ser111Pro) c.103T>C (p.Ser35Pro) n.821T>C n.835T>C | |
2 | g.43846308T>G | CA346663708 | ABCG8 | c.319T>G (p.Ser107Ala) n.776T>G c.331T>G (p.Ser111Ala) c.103T>G (p.Ser35Ala) n.821T>G n.835T>G | |
2 | g.43846309C>A | CA346663711 | ABCG8 | c.320C>A (p.Ser107Ter) n.777C>A c.332C>A (p.Ser111Ter) c.104C>A (p.Ser35Ter) n.822C>A n.836C>A | |
2 | g.43846309C= | CA2493945169 | ABCG8 | c.320C= (p.Ser107=) n.777C= c.332C= (p.Ser111=) c.104C= (p.Ser35=) n.822C= n.836C= | |
2 | g.43846309C>G | CA343788 | ABCG8 | c.320C>G (p.Ser107Ter) n.777C>G c.332C>G (p.Ser111Ter) c.104C>G (p.Ser35Ter) n.822C>G n.836C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43846309C>T | CA346663712 | ABCG8 | c.320C>T (p.Ser107Leu) n.777C>T c.332C>T (p.Ser111Leu) c.104C>T (p.Ser35Leu) n.822C>T n.836C>T | ClinVar gnomAD v4 |
2 | g.43846310A>C | CA425752573 | ABCG8 | c.321A>C (p.Ser107=) n.778A>C c.333A>C (p.Ser111=) c.105A>C (p.Ser35=) n.823A>C n.837A>C | gnomAD v4 |
2 | g.43846310A>G | CA425752574 | ABCG8 | c.321A>G (p.Ser107=) n.778A>G c.333A>G (p.Ser111=) c.105A>G (p.Ser35=) n.823A>G n.837A>G | |
2 | g.43846310A>T | CA425752575 | ABCG8 | c.321A>T (p.Ser107=) n.778A>T c.333A>T (p.Ser111=) c.105A>T (p.Ser35=) n.823A>T n.837A>T | |
2 | g.43846311G>A | CA346663713 | ABCG8 | c.322G>A (p.Gly108Ser) n.779G>A c.334G>A (p.Gly112Ser) c.106G>A (p.Gly36Ser) n.824G>A n.838G>A | dbSNP gnomAD v4 |
2 | g.43846311G>C | CA346663714 | ABCG8 | c.322G>C (p.Gly108Arg) n.779G>C c.334G>C (p.Gly112Arg) c.106G>C (p.Gly36Arg) n.824G>C n.838G>C | |
2 | g.43846311G= | CA2493945170 | ABCG8 | c.322G= (p.Gly108=) n.779G= c.334G= (p.Gly112=) c.106G= (p.Gly36=) n.824G= n.838G= | |
2 | g.43846311G>T | CA346663715 | ABCG8 | c.322G>T (p.Gly108Cys) n.779G>T c.334G>T (p.Gly112Cys) c.106G>T (p.Gly36Cys) n.824G>T n.838G>T | |
2 | g.43846312G>A | CA346663716 | ABCG8 | c.322+1G>A (n.322+1G>A) n.780G>A c.334+1G>A (n.334+1G>A) c.106+1G>A (n.106+1G>A) n.824+1G>A n.838+1G>A | gnomAD v4 |
2 | g.43846312G>C | CA346663718 | ABCG8 | c.322+1G>C (n.322+1G>C) n.780G>C c.334+1G>C (n.334+1G>C) c.106+1G>C (n.106+1G>C) n.824+1G>C n.838+1G>C | |
2 | g.43846312G>T | CA346663717 | ABCG8 | c.322+1G>T (n.322+1G>T) n.780G>T c.334+1G>T (n.334+1G>T) c.106+1G>T (n.106+1G>T) n.824+1G>T n.838+1G>T | COSMIC |
2 | g.43846313T>A | CA346663719 | ABCG8 | c.322+2T>A (n.322+2T>A) n.781T>A c.334+2T>A (n.334+2T>A) c.106+2T>A (n.106+2T>A) n.824+2T>A n.838+2T>A | |
2 | g.43846313T>C | CA346663720 | ABCG8 | c.322+2T>C (n.322+2T>C) n.781T>C c.334+2T>C (n.334+2T>C) c.106+2T>C (n.106+2T>C) n.824+2T>C n.838+2T>C | dbSNP gnomAD v4 |
2 | g.43846313T>G | CA346663721 | ABCG8 | c.322+2T>G (n.322+2T>G) n.781T>G c.334+2T>G (n.334+2T>G) c.106+2T>G (n.106+2T>G) n.824+2T>G n.838+2T>G | |
2 | g.43846315C= | CA2493945171 | ABCG8 | c.322+4C= (n.322+4C=) n.783C= c.334+4C= (n.334+4C=) c.106+4C= (n.106+4C=) n.824+4C= n.838+4C= | |
2 | g.43846315C>G | CA1636961 | ABCG8 | c.322+4C>G (n.322+4C>G) n.783C>G c.334+4C>G (n.334+4C>G) c.106+4C>G (n.106+4C>G) n.824+4C>G n.838+4C>G | dbSNP ExAC gnomAD v4 |
2 | g.43846315C>T | CA1636962 | ABCG8 | c.322+4C>T (n.322+4C>T) n.783C>T c.334+4C>T (n.334+4C>T) c.106+4C>T (n.106+4C>T) n.824+4C>T n.838+4C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43846316C>A | CA532703108 | ABCG8 | c.322+5C>A (n.322+5C>A) n.784C>A c.334+5C>A (n.334+5C>A) c.106+5C>A (n.106+5C>A) n.824+5C>A n.838+5C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43846316C= | CA2493945172 | ABCG8 | c.322+5C= (n.322+5C=) n.784C= c.334+5C= (n.334+5C=) c.106+5C= (n.106+5C=) n.824+5C= n.838+5C= | |
2 | g.43846316C>G | CA2576953739 | ABCG8 | c.322+5C>G (n.322+5C>G) n.784C>G c.334+5C>G (n.334+5C>G) c.106+5C>G (n.106+5C>G) n.824+5C>G n.838+5C>G | gnomAD v4 |
2 | g.43846316C>T | CA1636963 | ABCG8 | c.322+5C>T (n.322+5C>T) n.784C>T c.334+5C>T (n.334+5C>T) c.106+5C>T (n.106+5C>T) n.824+5C>T n.838+5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43846316_43846317insACAT | CA2658828098 | ABCG8 | c.322+5_322+6insACAT (n.322+5_322+6insACAT) n.784_785insACAT c.334+5_334+6insACAT (n.334+5_334+6insACAT) c.106+5_106+6insACAT (n.106+5_106+6insACAT) n.824+5_824+6insACAT n.838+5_838+6insACAT | gnomAD v4 |
2 | g.43846317G>A | CA1636964 | ABCG8 | c.322+6G>A (n.322+6G>A) n.785G>A c.334+6G>A (n.334+6G>A) c.106+6G>A (n.106+6G>A) n.824+6G>A n.838+6G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43846317G= | CA2493945173 | ABCG8 | c.322+6G= (n.322+6G=) n.785G= c.334+6G= (n.334+6G=) c.106+6G= (n.106+6G=) n.824+6G= n.838+6G= |