| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.165069091_165069093del | CA2691536 | SI | c.365_367del (p.Thr122del) c.*240_*242del (n.*240_*242del) c.266_268del (p.Thr89del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165069092G>A | CA355035279 | SI | c.359C>T (p.Thr120Ile) c.*234C>T (n.*234C>T) c.260C>T (p.Thr87Ile) | gnomAD v4 |
| 3 | g.165069092G>C | CA355035280 | SI | c.359C>G (p.Thr120Arg) c.*234C>G (n.*234C>G) c.260C>G (p.Thr87Arg) | |
| 3 | g.165069092G>T | CA355035281 | SI | c.359C>A (p.Thr120Lys) c.*234C>A (n.*234C>A) c.260C>A (p.Thr87Lys) | gnomAD v4 |
| 3 | g.165069093T>A | CA355035283 | SI | c.358A>T (p.Thr120Ser) c.*233A>T (n.*233A>T) c.259A>T (p.Thr87Ser) | |
| 3 | g.165069093T>C | CA355035284 | SI | c.358A>G (p.Thr120Ala) c.*233A>G (n.*233A>G) c.259A>G (p.Thr87Ala) | dbSNP gnomAD v4 |
| 3 | g.165069093T>G | CA355035285 | SI | c.358A>C (p.Thr120Pro) c.*233A>C (n.*233A>C) c.259A>C (p.Thr87Pro) | |
| 3 | g.165069093T= | CA1417382028 | SI | c.358A= (p.Thr120=) c.*233A= (n.*233A=) c.259A= (p.Thr87=) | |
| 3 | g.165069094C>A | CA355035293 | SI | c.357G>T (p.Met119Ile) c.*232G>T (n.*232G>T) c.258G>T (p.Met86Ile) | COSMIC |
| 3 | g.165069094C= | CA1417382033 | SI | c.357G= (p.Met119=) c.*232G= (n.*232G=) c.258G= (p.Met86=) | |
| 3 | g.165069094C>G | CA86497827 | SI | c.357G>C (p.Met119Ile) c.*232G>C (n.*232G>C) c.258G>C (p.Met86Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165069094C>T | CA355035290 | SI | c.357G>A (p.Met119Ile) c.*232G>A (n.*232G>A) c.258G>A (p.Met86Ile) | COSMIC |
| 3 | g.165069095A= | CA1417382039 | SI | c.356T= (p.Met119=) c.*231T= (n.*231T=) c.257T= (p.Met86=) | |
| 3 | g.165069095A>C | CA355035297 | SI | c.356T>G (p.Met119Arg) c.*231T>G (n.*231T>G) c.257T>G (p.Met86Arg) | |
| 3 | g.165069095A>G | CA355035299 | SI | c.356T>C (p.Met119Thr) c.*231T>C (n.*231T>C) c.257T>C (p.Met86Thr) | dbSNP gnomAD v4 COSMIC |
| 3 | g.165069095A>T | CA355035302 | SI | c.356T>A (p.Met119Lys) c.*231T>A (n.*231T>A) c.257T>A (p.Met86Lys) | |
| 3 | g.165069096T>A | CA2691539 | SI | c.355A>T (p.Met119Leu) c.*230A>T (n.*230A>T) c.256A>T (p.Met86Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165069096T>C | CA355035306 | SI | c.355A>G (p.Met119Val) c.*230A>G (n.*230A>G) c.256A>G (p.Met86Val) | gnomAD v4 |
| 3 | g.165069096T>G | CA355035308 | SI | c.355A>C (p.Met119Leu) c.*230A>C (n.*230A>C) c.256A>C (p.Met86Leu) | |
| 3 | g.165069096T= | CA1417382045 | SI | c.355A= (p.Met119=) c.*230A= (n.*230A=) c.256A= (p.Met86=) | |
| 3 | g.165069097G>A | CA436947773 | SI | c.354C>T (p.Asp118=) c.*229C>T (n.*229C>T) c.255C>T (p.Asp85=) | |
| 3 | g.165069097G>C | CA355035312 | SI | c.354C>G (p.Asp118Glu) c.*229C>G (n.*229C>G) c.255C>G (p.Asp85Glu) | |
| 3 | g.165069097G>T | CA355035314 | SI | c.354C>A (p.Asp118Glu) c.*229C>A (n.*229C>A) c.255C>A (p.Asp85Glu) | |
| 3 | g.165069098T>A | CA355035315 | SI | c.353A>T (p.Asp118Val) c.*228A>T (n.*228A>T) c.254A>T (p.Asp85Val) | |
| 3 | g.165069098T>C | CA355035317 | SI | c.353A>G (p.Asp118Gly) c.*228A>G (n.*228A>G) c.254A>G (p.Asp85Gly) | |
| 3 | g.165069098T>G | CA355035319 | SI | c.353A>C (p.Asp118Ala) c.*228A>C (n.*228A>C) c.254A>C (p.Asp85Ala) | |
| 3 | g.165069099C>A | CA355035325 | SI | c.352G>T (p.Asp118Tyr) c.*227G>T (n.*227G>T) c.253G>T (p.Asp85Tyr) | COSMIC |
| 3 | g.165069099C>G | CA355035323 | SI | c.352G>C (p.Asp118His) c.*227G>C (n.*227G>C) c.253G>C (p.Asp85His) | |
| 3 | g.165069099C>T | CA355035322 | SI | c.352G>A (p.Asp118Asn) c.*227G>A (n.*227G>A) c.253G>A (p.Asp85Asn) | |
| 3 | g.165069100T>A | CA355035327 | SI | c.351A>T (p.Gln117His) c.*226A>T (n.*226A>T) c.252A>T (p.Gln84His) | |
| 3 | g.165069100T>C | CA436947774 | SI | c.351A>G (p.Gln117=) c.*226A>G (n.*226A>G) c.252A>G (p.Gln84=) | |
| 3 | g.165069100T>G | CA355035328 | SI | c.351A>C (p.Gln117His) c.*226A>C (n.*226A>C) c.252A>C (p.Gln84His) | gnomAD v4 |
| 3 | g.165069101T>A | CA355035333 | SI | c.350A>T (p.Gln117Leu) c.*225A>T (n.*225A>T) c.251A>T (p.Gln84Leu) | |
| 3 | g.165069101T>C | CA115001 | SI | c.350A>G (p.Gln117Arg) c.*225A>G (n.*225A>G) c.251A>G (p.Gln84Arg) | ClinVar dbSNP |
| 3 | g.165069101T>G | CA355035337 | SI | c.350A>C (p.Gln117Pro) c.*225A>C (n.*225A>C) c.251A>C (p.Gln84Pro) | |
| 3 | g.165069101T= | CA1417382048 | SI | c.350A= (p.Gln117=) c.*225A= (n.*225A=) c.251A= (p.Gln84=) | |
| 3 | g.165069102G>A | CA355035342 | SI | c.349C>T (p.Gln117Ter) c.*224C>T (n.*224C>T) c.250C>T (p.Gln84Ter) | |
| 3 | g.165069102G>C | CA355035345 | SI | c.349C>G (p.Gln117Glu) c.*224C>G (n.*224C>G) c.250C>G (p.Gln84Glu) | dbSNP gnomAD v4 |
| 3 | g.165069102G= | CA1417382061 | SI | c.349C= (p.Gln117=) c.*224C= (n.*224C=) c.250C= (p.Gln84=) | |
| 3 | g.165069102G>T | CA355035347 | SI | c.349C>A (p.Gln117Lys) c.*224C>A (n.*224C>A) c.250C>A (p.Gln84Lys) | |
| 3 | g.165069103A>C | CA436947775 | SI | c.348T>G (p.Val116=) c.*223T>G (n.*223T>G) c.249T>G (p.Val83=) | |
| 3 | g.165069103A>G | CA436947776 | SI | c.348T>C (p.Val116=) c.*223T>C (n.*223T>C) c.249T>C (p.Val83=) | gnomAD v4 |
| 3 | g.165069103A>T | CA436947777 | SI | c.348T>A (p.Val116=) c.*223T>A (n.*223T>A) c.249T>A (p.Val83=) | |
| 3 | g.165069104A>C | CA355035351 | SI | c.347T>G (p.Val116Gly) c.*222T>G (n.*222T>G) c.248T>G (p.Val83Gly) | |
| 3 | g.165069104A>G | CA355035354 | SI | c.347T>C (p.Val116Ala) c.*222T>C (n.*222T>C) c.248T>C (p.Val83Ala) | |
| 3 | g.165069104A>T | CA355035357 | SI | c.347T>A (p.Val116Asp) c.*222T>A (n.*222T>A) c.248T>A (p.Val83Asp) | |
| 3 | g.165069105C>A | CA355035361 | SI | c.346G>T (p.Val116Phe) c.*221G>T (n.*221G>T) c.247G>T (p.Val83Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.165069105C= | CA1417382072 | SI | c.346G= (p.Val116=) c.*221G= (n.*221G=) c.247G= (p.Val83=) | |
| 3 | g.165069105C>G | CA355035364 | SI | c.346G>C (p.Val116Leu) c.*221G>C (n.*221G>C) c.247G>C (p.Val83Leu) | |
| 3 | g.165069105C>T | CA355035365 | SI | c.346G>A (p.Val116Ile) c.*221G>A (n.*221G>A) c.247G>A (p.Val83Ile) | COSMIC COSMIC |
| 3 | g.165069106G>A | CA436947778 | SI | c.345C>T (p.Asn115=) c.*220C>T (n.*220C>T) c.246C>T (p.Asn82=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165069106G>C | CA355035368 | SI | c.345C>G (p.Asn115Lys) c.*220C>G (n.*220C>G) c.246C>G (p.Asn82Lys) | |
| 3 | g.165069106G= | CA1417382077 | SI | c.345C= (p.Asn115=) c.*220C= (n.*220C=) c.246C= (p.Asn82=) | |
| 3 | g.165069106G>T | CA355035371 | SI | c.345C>A (p.Asn115Lys) c.*220C>A (n.*220C>A) c.246C>A (p.Asn82Lys) | gnomAD v4 |
| 3 | g.165069107T>A | CA355035374 | SI | c.344A>T (p.Asn115Ile) c.*219A>T (n.*219A>T) c.245A>T (p.Asn82Ile) | |
| 3 | g.165069107T>C | CA355035377 | SI | c.344A>G (p.Asn115Ser) c.*219A>G (n.*219A>G) c.245A>G (p.Asn82Ser) | |
| 3 | g.165069107T>G | CA355035380 | SI | c.344A>C (p.Asn115Thr) c.*219A>C (n.*219A>C) c.245A>C (p.Asn82Thr) | |
| 3 | g.165069108T>A | CA355035383 | SI | c.343A>T (p.Asn115Tyr) c.*218A>T (n.*218A>T) c.244A>T (p.Asn82Tyr) | |
| 3 | g.165069108T>C | CA355035385 | SI | c.343A>G (p.Asn115Asp) c.*218A>G (n.*218A>G) c.244A>G (p.Asn82Asp) | dbSNP |
| 3 | g.165069108T>G | CA355035388 | SI | c.343A>C (p.Asn115His) c.*218A>C (n.*218A>C) c.244A>C (p.Asn82His) | |
| 3 | g.165069108T= | CA1417382084 | SI | c.343A= (p.Asn115=) c.*218A= (n.*218A=) c.244A= (p.Asn82=) | |
| 3 | g.165069109A= | CA1417382091 | SI | c.342T= (p.Tyr114=) c.*217T= (n.*217T=) c.243T= (p.Tyr81=) | |
| 3 | g.165069109A>C | CA355035391 | SI | c.342T>G (p.Tyr114Ter) c.*217T>G (n.*217T>G) c.243T>G (p.Tyr81Ter) | |
| 3 | g.165069109A>G | CA2691540 | SI | c.342T>C (p.Tyr114=) c.*217T>C (n.*217T>C) c.243T>C (p.Tyr81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165069109A>T | CA355035394 | SI | c.342T>A (p.Tyr114Ter) c.*217T>A (n.*217T>A) c.243T>A (p.Tyr81Ter) | |
| 3 | g.165069110T>A | CA355035399 | SI | c.341A>T (p.Tyr114Phe) c.*216A>T (n.*216A>T) c.242A>T (p.Tyr81Phe) | |
| 3 | g.165069110T>C | CA355035401 | SI | c.341A>G (p.Tyr114Cys) c.*216A>G (n.*216A>G) c.242A>G (p.Tyr81Cys) | |
| 3 | g.165069110T>G | CA355035403 | SI | c.341A>C (p.Tyr114Ser) c.*216A>C (n.*216A>C) c.242A>C (p.Tyr81Ser) | |
| 3 | g.165069111A>C | CA355035411 | SI | c.340T>G (p.Tyr114Asp) c.*215T>G (n.*215T>G) c.241T>G (p.Tyr81Asp) | |
| 3 | g.165069111A>G | CA355035408 | SI | c.340T>C (p.Tyr114His) c.*215T>C (n.*215T>C) c.241T>C (p.Tyr81His) | |
| 3 | g.165069111A>T | CA355035406 | SI | c.340T>A (p.Tyr114Asn) c.*215T>A (n.*215T>A) c.241T>A (p.Tyr81Asn) | |
| 3 | g.165069112A>C | CA436947779 | SI | c.339T>G (p.Gly113=) c.*214T>G (n.*214T>G) c.240T>G (p.Gly80=) | |
| 3 | g.165069112A>G | CA436947780 | SI | c.339T>C (p.Gly113=) c.*214T>C (n.*214T>C) c.240T>C (p.Gly80=) | |
| 3 | g.165069112A>T | CA436947781 | SI | c.339T>A (p.Gly113=) c.*214T>A (n.*214T>A) c.240T>A (p.Gly80=) | |
| 3 | g.165069113C>A | CA355035420 | SI | c.338G>T (p.Gly113Val) c.*213G>T (n.*213G>T) c.239G>T (p.Gly80Val) | gnomAD v4 |
| 3 | g.165069113C>G | CA355035415 | SI | c.338G>C (p.Gly113Ala) c.*213G>C (n.*213G>C) c.239G>C (p.Gly80Ala) | |
| 3 | g.165069113C>T | CA355035417 | SI | c.338G>A (p.Gly113Asp) c.*213G>A (n.*213G>A) c.239G>A (p.Gly80Asp) | |
| 3 | g.165069114C>A | CA355035423 | SI | c.337G>T (p.Gly113Cys) c.*212G>T (n.*212G>T) c.238G>T (p.Gly80Cys) | |
| 3 | g.165069114C= | CA1417382093 | SI | c.337G= (p.Gly113=) c.*212G= (n.*212G=) c.238G= (p.Gly80=) | |
| 3 | g.165069114C>G | CA2691541 | SI | c.337G>C (p.Gly113Arg) c.*212G>C (n.*212G>C) c.238G>C (p.Gly80Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.165069114C>T | CA355035427 | SI | c.337G>A (p.Gly113Ser) c.*212G>A (n.*212G>A) c.238G>A (p.Gly80Ser) | |
| 3 | g.165069115A>C | CA355035429 | SI | c.336T>G (p.His112Gln) c.*211T>G (n.*211T>G) c.237T>G (p.His79Gln) | |
| 3 | g.165069115A>G | CA436947782 | SI | c.336T>C (p.His112=) c.*211T>C (n.*211T>C) c.237T>C (p.His79=) | gnomAD v4 |
| 3 | g.165069115A>T | CA355035432 | SI | c.336T>A (p.His112Gln) c.*211T>A (n.*211T>A) c.237T>A (p.His79Gln) | |
| 3 | g.165069116T>A | CA355035441 | SI | c.335A>T (p.His112Leu) c.*210A>T (n.*210A>T) c.236A>T (p.His79Leu) | ClinVar gnomAD v4 |
| 3 | g.165069116T>C | CA355035436 | SI | c.335A>G (p.His112Arg) c.*210A>G (n.*210A>G) c.236A>G (p.His79Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165069116T>G | CA355035438 | SI | c.335A>C (p.His112Pro) c.*210A>C (n.*210A>C) c.236A>C (p.His79Pro) | |
| 3 | g.165069116T= | CA1417382098 | SI | c.335A= (p.His112=) c.*210A= (n.*210A=) c.236A= (p.His79=) | |
| 3 | g.165069117G>A | CA355035444 | SI | c.334C>T (p.His112Tyr) c.*209C>T (n.*209C>T) c.235C>T (p.His79Tyr) | |
| 3 | g.165069117G>C | CA355035446 | SI | c.334C>G (p.His112Asp) c.*209C>G (n.*209C>G) c.235C>G (p.His79Asp) | |
| 3 | g.165069117G= | CA1417382103 | SI | c.334C= (p.His112=) c.*209C= (n.*209C=) c.235C= (p.His79=) | |
| 3 | g.165069117G>T | CA2691542 | SI | c.334C>A (p.His112Asn) c.*209C>A (n.*209C>A) c.235C>A (p.His79Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165069118A= | CA1417382105 | SI | c.333T= (p.Asn111=) c.*208T= (n.*208T=) c.234T= (p.Asn78=) | |
| 3 | g.165069118A>C | CA355035461 | SI | c.333T>G (p.Asn111Lys) c.*208T>G (n.*208T>G) c.234T>G (p.Asn78Lys) | |
| 3 | g.165069118A>G | CA436947783 | SI | c.333T>C (p.Asn111=) c.*208T>C (n.*208T>C) c.234T>C (p.Asn78=) | |
| 3 | g.165069118A>T | CA355035464 | SI | c.333T>A (p.Asn111Lys) c.*208T>A (n.*208T>A) c.234T>A (p.Asn78Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165069119T>A | CA355035467 | SI | c.332A>T (p.Asn111Ile) c.*207A>T (n.*207A>T) c.233A>T (p.Asn78Ile) | |
| 3 | g.165069119T>C | CA2691543 | SI | c.332A>G (p.Asn111Ser) c.*207A>G (n.*207A>G) c.233A>G (p.Asn78Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.165069119T>G | CA355035471 | SI | c.332A>C (p.Asn111Thr) c.*207A>C (n.*207A>C) c.233A>C (p.Asn78Thr) | gnomAD v4 |
| 3 | g.165069119T= | CA1417382108 | SI | c.332A= (p.Asn111=) c.*207A= (n.*207A=) c.233A= (p.Asn78=) | |
| 3 | g.165069120T>A | CA355035476 | SI | c.331A>T (p.Asn111Tyr) c.*206A>T (n.*206A>T) c.232A>T (p.Asn78Tyr) | |
| 3 | g.165069120T>C | CA355035480 | SI | c.331A>G (p.Asn111Asp) c.*206A>G (n.*206A>G) c.232A>G (p.Asn78Asp) | |
| 3 | g.165069120T>G | CA355035481 | SI | c.331A>C (p.Asn111His) c.*206A>C (n.*206A>C) c.232A>C (p.Asn78His) | |
| 3 | g.165069121A= | CA1417382109 | SI | c.330T= (p.Asp110=) c.*205T= (n.*205T=) c.231T= (p.Asp77=) | |
| 3 | g.165069121A>C | CA355035484 | SI | c.330T>G (p.Asp110Glu) c.*205T>G (n.*205T>G) c.231T>G (p.Asp77Glu) | |
| 3 | g.165069121A>G | CA2691544 | SI | c.330T>C (p.Asp110=) c.*205T>C (n.*205T>C) c.231T>C (p.Asp77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165069121A>T | CA355035489 | SI | c.330T>A (p.Asp110Glu) c.*205T>A (n.*205T>A) c.231T>A (p.Asp77Glu) | |
| 3 | g.165069122T>A | CA355035493 | SI | c.329A>T (p.Asp110Val) c.*204A>T (n.*204A>T) c.230A>T (p.Asp77Val) | |
| 3 | g.165069122T>C | CA355035496 | SI | c.329A>G (p.Asp110Gly) c.*204A>G (n.*204A>G) c.230A>G (p.Asp77Gly) | |
| 3 | g.165069122T>G | CA355035499 | SI | c.329A>C (p.Asp110Ala) c.*204A>C (n.*204A>C) c.230A>C (p.Asp77Ala) | |
| 3 | g.165069123C>A | CA86497867 | SI | c.328G>T (p.Asp110Tyr) c.*203G>T (n.*203G>T) c.229G>T (p.Asp77Tyr) | dbSNP gnomAD v4 |
| 3 | g.165069123C= | CA1417382113 | SI | c.328G= (p.Asp110=) c.*203G= (n.*203G=) c.229G= (p.Asp77=) | |
| 3 | g.165069123C>G | CA355035505 | SI | c.328G>C (p.Asp110His) c.*203G>C (n.*203G>C) c.229G>C (p.Asp77His) | |
| 3 | g.165069123C>T | CA355035508 | SI | c.328G>A (p.Asp110Asn) c.*203G>A (n.*203G>A) c.229G>A (p.Asp77Asn) | gnomAD v4 |
| 3 | g.165069124A>C | CA436947784 | SI | c.327T>G (p.Val109=) c.*202T>G (n.*202T>G) c.228T>G (p.Val76=) | |
| 3 | g.165069124A>G | CA436947785 | SI | c.327T>C (p.Val109=) c.*202T>C (n.*202T>C) c.228T>C (p.Val76=) | |
| 3 | g.165069124A>T | CA436947786 | SI | c.327T>A (p.Val109=) c.*202T>A (n.*202T>A) c.228T>A (p.Val76=) | |
| 3 | g.165069125A>C | CA355035511 | SI | c.326T>G (p.Val109Gly) c.*201T>G (n.*201T>G) c.227T>G (p.Val76Gly) | |
| 3 | g.165069125A>G | CA355035525 | SI | c.326T>C (p.Val109Ala) c.*201T>C (n.*201T>C) c.227T>C (p.Val76Ala) | gnomAD v4 |
| 3 | g.165069125A>T | CA355035524 | SI | c.326T>A (p.Val109Asp) c.*201T>A (n.*201T>A) c.227T>A (p.Val76Asp) | |
| 3 | g.165069126C>A | CA2691546 | SI | c.325G>T (p.Val109Phe) c.*200G>T (n.*200G>T) c.226G>T (p.Val76Phe) | dbSNP ExAC gnomAD v4 |
| 3 | g.165069126C= | CA1417382119 | SI | c.325G= (p.Val109=) c.*200G= (n.*200G=) c.226G= (p.Val76=) | |
| 3 | g.165069126C>G | CA355035531 | SI | c.325G>C (p.Val109Leu) c.*200G>C (n.*200G>C) c.226G>C (p.Val76Leu) | |
| 3 | g.165069126C>T | CA2691545 | SI | c.325G>A (p.Val109Ile) c.*200G>A (n.*200G>A) c.226G>A (p.Val76Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165069127G>A | CA436947787 | SI | c.324C>T (p.Phe108=) c.*199C>T (n.*199C>T) c.225C>T (p.Phe75=) | |
| 3 | g.165069127G>C | CA355035539 | SI | c.324C>G (p.Phe108Leu) c.*199C>G (n.*199C>G) c.225C>G (p.Phe75Leu) | |
| 3 | g.165069127G>T | CA355035540 | SI | c.324C>A (p.Phe108Leu) c.*199C>A (n.*199C>A) c.225C>A (p.Phe75Leu) | gnomAD v4 |
| 3 | g.165069128A= | CA1417382128 | SI | c.323T= (p.Phe108=) c.*198T= (n.*198T=) c.224T= (p.Phe75=) | |
| 3 | g.165069128A>C | CA355035553 | SI | c.323T>G (p.Phe108Cys) c.*198T>G (n.*198T>G) c.224T>G (p.Phe75Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165069128A>G | CA355035555 | SI | c.323T>C (p.Phe108Ser) c.*198T>C (n.*198T>C) c.224T>C (p.Phe75Ser) | |
| 3 | g.165069128A>T | CA355035558 | SI | c.323T>A (p.Phe108Tyr) c.*198T>A (n.*198T>A) c.224T>A (p.Phe75Tyr) | |
| 3 | g.165069129A= | CA1417382136 | SI | c.322T= (p.Phe108=) c.*197T= (n.*197T=) c.223T= (p.Phe75=) | |
| 3 | g.165069129A>C | CA2691547 | SI | c.322T>G (p.Phe108Val) c.*197T>G (n.*197T>G) c.223T>G (p.Phe75Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165069129A>G | CA355035563 | SI | c.322T>C (p.Phe108Leu) c.*197T>C (n.*197T>C) c.223T>C (p.Phe75Leu) | |
| 3 | g.165069129A>T | CA355035566 | SI | c.322T>A (p.Phe108Ile) c.*197T>A (n.*197T>A) c.223T>A (p.Phe75Ile) | |
| 3 | g.165069130G>A | CA436947788 | SI | c.321C>T (p.Phe107=) c.*196C>T (n.*196C>T) c.222C>T (p.Phe74=) | gnomAD v4 |
| 3 | g.165069130G>C | CA355035568 | SI | c.321C>G (p.Phe107Leu) c.*196C>G (n.*196C>G) c.222C>G (p.Phe74Leu) | |
| 3 | g.165069130G>T | CA355035571 | SI | c.321C>A (p.Phe107Leu) c.*196C>A (n.*196C>A) c.222C>A (p.Phe74Leu) | COSMIC COSMIC |
| 3 | g.165069131A>C | CA355035577 | SI | c.320T>G (p.Phe107Cys) c.*195T>G (n.*195T>G) c.221T>G (p.Phe74Cys) | |
| 3 | g.165069131A>G | CA355035574 | SI | c.320T>C (p.Phe107Ser) c.*195T>C (n.*195T>C) c.221T>C (p.Phe74Ser) | |
| 3 | g.165069131A>T | CA355035576 | SI | c.320T>A (p.Phe107Tyr) c.*195T>A (n.*195T>A) c.221T>A (p.Phe74Tyr) | |
| 3 | g.165069132A>C | CA355035579 | SI | c.319T>G (p.Phe107Val) c.*194T>G (n.*194T>G) c.220T>G (p.Phe74Val) | gnomAD v4 |
| 3 | g.165069132A>G | CA355035581 | SI | c.319T>C (p.Phe107Leu) c.*194T>C (n.*194T>C) c.220T>C (p.Phe74Leu) | gnomAD v4 |
| 3 | g.165069132A>T | CA355035583 | SI | c.319T>A (p.Phe107Ile) c.*194T>A (n.*194T>A) c.220T>A (p.Phe74Ile) | |
| 3 | g.165069133G>A | CA2691548 | SI | c.318C>T (p.Cys106=) c.*193C>T (n.*193C>T) c.219C>T (p.Cys73=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.165069133G>C | CA355035587 | SI | c.318C>G (p.Cys106Trp) c.*193C>G (n.*193C>G) c.219C>G (p.Cys73Trp) | |
| 3 | g.165069133G= | CA1417382140 | SI | c.318C= (p.Cys106=) c.*193C= (n.*193C=) c.219C= (p.Cys73=) | |
| 3 | g.165069133G>T | CA355035590 | SI | c.318C>A (p.Cys106Ter) c.*193C>A (n.*193C>A) c.219C>A (p.Cys73Ter) | |
| 3 | g.165069134C>A | CA355035595 | SI | c.317G>T (p.Cys106Phe) c.*192G>T (n.*192G>T) c.218G>T (p.Cys73Phe) | |
| 3 | g.165069134C>G | CA355035597 | SI | c.317G>C (p.Cys106Ser) c.*192G>C (n.*192G>C) c.218G>C (p.Cys73Ser) | |
| 3 | g.165069134C>T | CA355035600 | SI | c.317G>A (p.Cys106Tyr) c.*192G>A (n.*192G>A) c.218G>A (p.Cys73Tyr) | |
| 3 | g.165069135A>C | CA355035603 | SI | c.316T>G (p.Cys106Gly) c.*191T>G (n.*191T>G) c.217T>G (p.Cys73Gly) | |
| 3 | g.165069135A>G | CA355035604 | SI | c.316T>C (p.Cys106Arg) c.*191T>C (n.*191T>C) c.217T>C (p.Cys73Arg) | |
| 3 | g.165069135A>T | CA355035605 | SI | c.316T>A (p.Cys106Ser) c.*191T>A (n.*191T>A) c.217T>A (p.Cys73Ser) | |
| 3 | g.165069135_165069136insAACACAC | CA2759234703 | SI | c.315_316insGTGTGTT (p.Cys106ValfsTer7) c.*190_*191insGTGTGTT (n.*190_*191insGTGTGTT) c.216_217insGTGTGTT (p.Cys73ValfsTer7) | |
| 3 | g.165069136C>A | CA2691549 | SI | c.315G>T (p.Trp105Cys) c.*190G>T (n.*190G>T) c.216G>T (p.Trp72Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.165069136C= | CA1417382149 | SI | c.315G= (p.Trp105=) c.*190G= (n.*190G=) c.216G= (p.Trp72=) | |
| 3 | g.165069136C>G | CA355035609 | SI | c.315G>C (p.Trp105Cys) c.*190G>C (n.*190G>C) c.216G>C (p.Trp72Cys) | |
| 3 | g.165069136C>T | CA355035607 | SI | c.315G>A (p.Trp105Ter) c.*190G>A (n.*190G>A) c.216G>A (p.Trp72Ter) | |
| 3 | g.165069137C>A | CA355035612 | SI | c.314G>T (p.Trp105Leu) c.*189G>T (n.*189G>T) c.215G>T (p.Trp72Leu) | |
| 3 | g.165069137C>G | CA355035622 | SI | c.314G>C (p.Trp105Ser) c.*189G>C (n.*189G>C) c.215G>C (p.Trp72Ser) | |
| 3 | g.165069137C>T | CA355035620 | SI | c.314G>A (p.Trp105Ter) c.*189G>A (n.*189G>A) c.215G>A (p.Trp72Ter) | |
| 3 | g.165069138A>C | CA355035624 | SI | c.313T>G (p.Trp105Gly) c.*188T>G (n.*188T>G) c.214T>G (p.Trp72Gly) | |
| 3 | g.165069138A>G | CA355035629 | SI | c.313T>C (p.Trp105Arg) c.*188T>C (n.*188T>C) c.214T>C (p.Trp72Arg) | |
| 3 | g.165069138A>T | CA355035627 | SI | c.313T>A (p.Trp105Arg) c.*188T>A (n.*188T>A) c.214T>A (p.Trp72Arg) | |
| 3 | g.165069139A>C | CA436947790 | SI | c.312T>G (p.Pro104=) c.*187T>G (n.*187T>G) c.213T>G (p.Pro71=) | |
| 3 | g.165069139A>G | CA436947791 | SI | c.312T>C (p.Pro104=) c.*187T>C (n.*187T>C) c.213T>C (p.Pro71=) | |
| 3 | g.165069139A>T | CA436947792 | SI | c.312T>A (p.Pro104=) c.*187T>A (n.*187T>A) c.213T>A (p.Pro71=) | gnomAD v4 |
| 3 | g.165069140G>A | CA355035633 | SI | c.311C>T (p.Pro104Leu) c.*186C>T (n.*186C>T) c.212C>T (p.Pro71Leu) | COSMIC COSMIC |
| 3 | g.165069140G>C | CA86497904 | SI | c.311C>G (p.Pro104Arg) c.*186C>G (n.*186C>G) c.212C>G (p.Pro71Arg) | dbSNP COSMIC |
| 3 | g.165069140G= | CA1417382156 | SI | c.311C= (p.Pro104=) c.*186C= (n.*186C=) c.212C= (p.Pro71=) | |
| 3 | g.165069140G>T | CA355035635 | SI | c.311C>A (p.Pro104His) c.*186C>A (n.*186C>A) c.212C>A (p.Pro71His) | |
| 3 | g.165069141G>A | CA355035637 | SI | c.310C>T (p.Pro104Ser) c.*185C>T (n.*185C>T) c.211C>T (p.Pro71Ser) | |
| 3 | g.165069141G>C | CA355035638 | SI | c.310C>G (p.Pro104Ala) c.*185C>G (n.*185C>G) c.211C>G (p.Pro71Ala) | |
| 3 | g.165069141G>T | CA355035639 | SI | c.310C>A (p.Pro104Thr) c.*185C>A (n.*185C>A) c.211C>A (p.Pro71Thr) | |
| 3 | g.165069142A>C | CA355035641 | SI | c.309T>G (p.Ile103Met) c.*184T>G (n.*184T>G) c.210T>G (p.Ile70Met) | |
| 3 | g.165069142A>G | CA436947793 | SI | c.309T>C (p.Ile103=) c.*184T>C (n.*184T>C) c.210T>C (p.Ile70=) | |
| 3 | g.165069142A>T | CA436947794 | SI | c.309T>A (p.Ile103=) c.*184T>A (n.*184T>A) c.210T>A (p.Ile70=) | |
| 3 | g.165069143A= | CA1417382160 | SI | c.308T= (p.Ile103=) c.*183T= (n.*183T=) c.209T= (p.Ile70=) | |
| 3 | g.165069143A>C | CA355035649 | SI | c.308T>G (p.Ile103Ser) c.*183T>G (n.*183T>G) c.209T>G (p.Ile70Ser) | dbSNP |
| 3 | g.165069143A>G | CA355035650 | SI | c.308T>C (p.Ile103Thr) c.*183T>C (n.*183T>C) c.209T>C (p.Ile70Thr) | |
| 3 | g.165069143A>T | CA355035653 | SI | c.308T>A (p.Ile103Asn) c.*183T>A (n.*183T>A) c.209T>A (p.Ile70Asn) | |
| 3 | g.165069144T>A | CA355035657 | SI | c.307A>T (p.Ile103Phe) c.*182A>T (n.*182A>T) c.208A>T (p.Ile70Phe) | dbSNP |
| 3 | g.165069144T>C | CA355035656 | SI | c.307A>G (p.Ile103Val) c.*182A>G (n.*182A>G) c.208A>G (p.Ile70Val) | |
| 3 | g.165069144T>G | CA355035655 | SI | c.307A>C (p.Ile103Leu) c.*182A>C (n.*182A>C) c.208A>C (p.Ile70Leu) | |
| 3 | g.165069144T= | CA1417382164 | SI | c.307A= (p.Ile103=) c.*182A= (n.*182A=) c.208A= (p.Ile70=) | |
| 3 | g.165069145A= | CA1417382165 | SI | c.306T= (p.Leu102=) c.*181T= (n.*181T=) c.207T= (p.Leu69=) | |
| 3 | g.165069145A>C | CA436947796 | SI | c.306T>G (p.Leu102=) c.*181T>G (n.*181T>G) c.207T>G (p.Leu69=) | |
| 3 | g.165069145A>G | CA436947797 | SI | c.306T>C (p.Leu102=) c.*181T>C (n.*181T>C) c.207T>C (p.Leu69=) | dbSNP gnomAD v4 |
| 3 | g.165069145A>T | CA436947798 | SI | c.306T>A (p.Leu102=) c.*181T>A (n.*181T>A) c.207T>A (p.Leu69=) | |
| 3 | g.165069145_165069146del | CA2668425552 | SI | c.305_306del (p.Leu102HisfsTer8) c.*180_*181del (n.*180_*181del) c.206_207del (p.Leu69HisfsTer8) | gnomAD v4 |
| 3 | g.165069145_165069147delinsAAG | CA1417382167 | SI | c.304_306delinsCTT (p.Leu102=) c.*179_*181delinsCTT (n.*179_*181delinsCTT) c.205_207delinsCTT (p.Leu69=) | |
| 3 | g.165069146A>C | CA355035658 | SI | c.305T>G (p.Leu102Arg) c.*180T>G (n.*180T>G) c.206T>G (p.Leu69Arg) | COSMIC COSMIC |
| 3 | g.165069146A>G | CA355035660 | SI | c.305T>C (p.Leu102Pro) c.*180T>C (n.*180T>C) c.206T>C (p.Leu69Pro) | |
| 3 | g.165069146A>T | CA355035662 | SI | c.305T>A (p.Leu102His) c.*180T>A (n.*180T>A) c.206T>A (p.Leu69His) | |
| 3 | g.165069150_165069151del | CA547856445 | SI | c.304_305del (p.Leu102TyrfsTer8) c.*179_*180del (n.*179_*180del) c.205_206del (p.Leu69TyrfsTer8) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165069147G>A | CA355035665 | SI | c.304C>T (p.Leu102Phe) c.*179C>T (n.*179C>T) c.205C>T (p.Leu69Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165069147G>C | CA355035667 | SI | c.304C>G (p.Leu102Val) c.*179C>G (n.*179C>G) c.205C>G (p.Leu69Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.165069147G= | CA1417382173 | SI | c.304C= (p.Leu102=) c.*179C= (n.*179C=) c.205C= (p.Leu69=) | |
| 3 | g.165069147G>T | CA355035669 | SI | c.304C>A (p.Leu102Ile) c.*179C>A (n.*179C>A) c.205C>A (p.Leu69Ile) | |
| 3 | g.165069148A>C | CA436947799 | SI | c.303T>G (p.Ser101=) c.*178T>G (n.*178T>G) c.204T>G (p.Ser68=) | |
| 3 | g.165069148A>G | CA436947800 | SI | c.303T>C (p.Ser101=) c.*178T>C (n.*178T>C) c.204T>C (p.Ser68=) | |
| 3 | g.165069148A>T | CA436947801 | SI | c.303T>A (p.Ser101=) c.*178T>A (n.*178T>A) c.204T>A (p.Ser68=) | |
| 3 | g.165069149G>A | CA86497905 | SI | c.302C>T (p.Ser101Phe) c.*177C>T (n.*177C>T) c.203C>T (p.Ser68Phe) | dbSNP |
| 3 | g.165069149G>C | CA2691550 | SI | c.302C>G (p.Ser101Cys) c.*177C>G (n.*177C>G) c.203C>G (p.Ser68Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165069149G= | CA1417382176 | SI | c.302C= (p.Ser101=) c.*177C= (n.*177C=) c.203C= (p.Ser68=) | |
| 3 | g.165069149G>T | CA355035674 | SI | c.302C>A (p.Ser101Tyr) c.*177C>A (n.*177C>A) c.203C>A (p.Ser68Tyr) | |
| 3 | g.165069150A>C | CA355035676 | SI | c.301T>G (p.Ser101Ala) c.*176T>G (n.*176T>G) c.202T>G (p.Ser68Ala) | |
| 3 | g.165069150A>G | CA355035678 | SI | c.301T>C (p.Ser101Pro) c.*176T>C (n.*176T>C) c.202T>C (p.Ser68Pro) | |
| 3 | g.165069150A>T | CA355035679 | SI | c.301T>A (p.Ser101Thr) c.*176T>A (n.*176T>A) c.202T>A (p.Ser68Thr) | |
| 3 | g.165069151G>A | CA436947802 | SI | c.300C>T (p.Asp100=) c.*175C>T (n.*175C>T) c.201C>T (p.Asp67=) | |
| 3 | g.165069151G>C | CA355035681 | SI | c.300C>G (p.Asp100Glu) c.*175C>G (n.*175C>G) c.201C>G (p.Asp67Glu) | |
| 3 | g.165069151G>T | CA355035682 | SI | c.300C>A (p.Asp100Glu) c.*175C>A (n.*175C>A) c.201C>A (p.Asp67Glu) | |
| 3 | g.165069152T>A | CA355035684 | SI | c.299A>T (p.Asp100Val) c.*174A>T (n.*174A>T) c.200A>T (p.Asp67Val) | |
| 3 | g.165069152T>C | CA2691551 | SI | c.299A>G (p.Asp100Gly) c.*174A>G (n.*174A>G) c.200A>G (p.Asp67Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.165069152T>G | CA355035686 | SI | c.299A>C (p.Asp100Ala) c.*174A>C (n.*174A>C) c.200A>C (p.Asp67Ala) | |
| 3 | g.165069152T= | CA1417382184 | SI | c.299A= (p.Asp100=) c.*174A= (n.*174A=) c.200A= (p.Asp67=) | |
| 3 | g.165069153C>A | CA355035689 | SI | c.298G>T (p.Asp100Tyr) c.*173G>T (n.*173G>T) c.199G>T (p.Asp67Tyr) | |
| 3 | g.165069153C>G | CA355035691 | SI | c.298G>C (p.Asp100His) c.*173G>C (n.*173G>C) c.199G>C (p.Asp67His) | |
| 3 | g.165069153C>T | CA355035693 | SI | c.298G>A (p.Asp100Asn) c.*173G>A (n.*173G>A) c.199G>A (p.Asp67Asn) | |
| 3 | g.165069154A= | CA1417382190 | SI | c.297T= (p.Asn99=) c.*172T= (n.*172T=) c.198T= (p.Asn66=) | |
| 3 | g.165069154A>C | CA355035695 | SI | c.297T>G (p.Asn99Lys) c.*172T>G (n.*172T>G) c.198T>G (p.Asn66Lys) | |
| 3 | g.165069154A>G | CA2691552 | SI | c.297T>C (p.Asn99=) c.*172T>C (n.*172T>C) c.198T>C (p.Asn66=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.165069154A>T | CA355035697 | SI | c.297T>A (p.Asn99Lys) c.*172T>A (n.*172T>A) c.198T>A (p.Asn66Lys) | |
| 3 | g.165069155T>A | CA355035699 | SI | c.296A>T (p.Asn99Ile) c.*171A>T (n.*171A>T) c.197A>T (p.Asn66Ile) | |
| 3 | g.165069155T>C | CA355035701 | SI | c.296A>G (p.Asn99Ser) c.*171A>G (n.*171A>G) c.197A>G (p.Asn66Ser) | |
| 3 | g.165069155T>G | CA355035702 | SI | c.296A>C (p.Asn99Thr) c.*171A>C (n.*171A>C) c.197A>C (p.Asn66Thr) | |
| 3 | g.165069156del | CA2668425553 | SI | c.296del (p.Asn99MetfsTer21) c.*171del (n.*171del) c.197del (p.Asn66MetfsTer21) | gnomAD v4 |
| 3 | g.165069156T>A | CA355035709 | SI | c.295A>T (p.Asn99Tyr) c.*170A>T (n.*170A>T) c.196A>T (p.Asn66Tyr) | |
| 3 | g.165069156T>C | CA86497924 | SI | c.295A>G (p.Asn99Asp) c.*170A>G (n.*170A>G) c.196A>G (p.Asn66Asp) | dbSNP |
| 3 | g.165069156T>G | CA355035707 | SI | c.295A>C (p.Asn99His) c.*170A>C (n.*170A>C) c.196A>C (p.Asn66His) | |
| 3 | g.165069156T= | CA1417382195 | SI | c.295A= (p.Asn99=) c.*170A= (n.*170A=) c.196A= (p.Asn66=) | |
| 3 | g.165069157C>A | CA355035712 | SI | c.294G>T (p.Trp98Cys) c.*169G>T (n.*169G>T) c.195G>T (p.Trp65Cys) | |
| 3 | g.165069157C= | CA1417382199 | SI | c.294G= (p.Trp98=) c.*169G= (n.*169G=) c.195G= (p.Trp65=) | |
| 3 | g.165069157C>G | CA355035714 | SI | c.294G>C (p.Trp98Cys) c.*169G>C (n.*169G>C) c.195G>C (p.Trp65Cys) | |
| 3 | g.165069157C>T | CA355035716 | SI | c.294G>A (p.Trp98Ter) c.*169G>A (n.*169G>A) c.195G>A (p.Trp65Ter) | dbSNP gnomAD v2 |
| 3 | g.165069158C>A | CA355035718 | SI | c.293G>T (p.Trp98Leu) c.*168G>T (n.*168G>T) c.194G>T (p.Trp65Leu) | |
| 3 | g.165069158C>G | CA355035719 | SI | c.293G>C (p.Trp98Ser) c.*168G>C (n.*168G>C) c.194G>C (p.Trp65Ser) | |
| 3 | g.165069158C>T | CA355035721 | SI | c.293G>A (p.Trp98Ter) c.*168G>A (n.*168G>A) c.194G>A (p.Trp65Ter) | gnomAD v4 |
| 3 | g.165069159A= | CA1417382208 | SI | c.292T= (p.Trp98=) c.*167T= (n.*167T=) c.193T= (p.Trp65=) | |
| 3 | g.165069159A>C | CA355035723 | SI | c.292T>G (p.Trp98Gly) c.*167T>G (n.*167T>G) c.193T>G (p.Trp65Gly) | dbSNP |
| 3 | g.165069159A>G | CA355035725 | SI | c.292T>C (p.Trp98Arg) c.*167T>C (n.*167T>C) c.193T>C (p.Trp65Arg) | |
| 3 | g.165069159A>T | CA355035726 | SI | c.292T>A (p.Trp98Arg) c.*167T>A (n.*167T>A) c.193T>A (p.Trp65Arg) | |
| 3 | g.165069160C>A | CA436947803 | SI | c.291G>T (p.Pro97=) c.*166G>T (n.*166G>T) c.192G>T (p.Pro64=) | |
| 3 | g.165069160C= | CA1417382213 | SI | c.291G= (p.Pro97=) c.*166G= (n.*166G=) c.192G= (p.Pro64=) | |
| 3 | g.165069160C>G | CA436947804 | SI | c.291G>C (p.Pro97=) c.*166G>C (n.*166G>C) c.192G>C (p.Pro64=) | |
| 3 | g.165069160C>T | CA436947805 | SI | c.291G>A (p.Pro97=) c.*166G>A (n.*166G>A) c.192G>A (p.Pro64=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165069161G>A | CA2691553 | SI | c.290C>T (p.Pro97Leu) c.*165C>T (n.*165C>T) c.191C>T (p.Pro64Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165069161G>C | CA355035729 | SI | c.290C>G (p.Pro97Arg) c.*165C>G (n.*165C>G) c.191C>G (p.Pro64Arg) | |
| 3 | g.165069161G= | CA1417382216 | SI | c.290C= (p.Pro97=) c.*165C= (n.*165C=) c.191C= (p.Pro64=) | |
| 3 | g.165069161G>T | CA355035731 | SI | c.290C>A (p.Pro97Gln) c.*165C>A (n.*165C>A) c.191C>A (p.Pro64Gln) | |
| 3 | g.165069162G>A | CA355035734 | SI | c.289C>T (p.Pro97Ser) c.*164C>T (n.*164C>T) c.190C>T (p.Pro64Ser) | |
| 3 | g.165069162G>C | CA355035736 | SI | c.289C>G (p.Pro97Ala) c.*164C>G (n.*164C>G) c.190C>G (p.Pro64Ala) | dbSNP |
| 3 | g.165069162G= | CA1417382225 | SI | c.289C= (p.Pro97=) c.*164C= (n.*164C=) c.190C= (p.Pro64=) | |
| 3 | g.165069162G>T | CA2691554 | SI | c.289C>A (p.Pro97Thr) c.*164C>A (n.*164C>A) c.190C>A (p.Pro64Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.165069163C>A | CA355035738 | SI | c.288G>T (p.Arg96Ser) c.*163G>T (n.*163G>T) c.189G>T (p.Arg63Ser) | |
| 3 | g.165069163C>G | CA355035739 | SI | c.288G>C (p.Arg96Ser) c.*163G>C (n.*163G>C) c.189G>C (p.Arg63Ser) | |
| 3 | g.165069163C>T | CA436947806 | SI | c.288G>A (p.Arg96=) c.*163G>A (n.*163G>A) c.189G>A (p.Arg63=) | |
| 3 | g.165069164C>A | CA355035741 | SI | c.287G>T (p.Arg96Met) c.*162G>T (n.*162G>T) c.188G>T (p.Arg63Met) | |
| 3 | g.165069164C>G | CA355035743 | SI | c.287G>C (p.Arg96Thr) c.*162G>C (n.*162G>C) c.188G>C (p.Arg63Thr) | |
| 3 | g.165069164C>T | CA355035744 | SI | c.287G>A (p.Arg96Lys) c.*162G>A (n.*162G>A) c.188G>A (p.Arg63Lys) | gnomAD v4 |
| 3 | g.165069165T>A | CA355035746 | SI | c.286A>T (p.Arg96Trp) c.*161A>T (n.*161A>T) c.187A>T (p.Arg63Trp) | |
| 3 | g.165069165T>C | CA355035748 | SI | c.286A>G (p.Arg96Gly) c.*161A>G (n.*161A>G) c.187A>G (p.Arg63Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165069165T>G | CA436947807 | SI | c.286A>C (p.Arg96=) c.*161A>C (n.*161A>C) c.187A>C (p.Arg63=) | |
| 3 | g.165069165T= | CA1417382229 | SI | c.286A= (p.Arg96=) c.*161A= (n.*161A=) c.187A= (p.Arg63=) | |
| 3 | g.165069166C>A | CA355035750 | SI | c.285G>T (p.Trp95Cys) c.*160G>T (n.*160G>T) c.186G>T (p.Trp62Cys) | |
| 3 | g.165069166C= | CA1417382238 | SI | c.285G= (p.Trp95=) c.*160G= (n.*160G=) c.186G= (p.Trp62=) | |
| 3 | g.165069166C>G | CA355035753 | SI | c.285G>C (p.Trp95Cys) c.*160G>C (n.*160G>C) c.186G>C (p.Trp62Cys) | |
| 3 | g.165069166C>T | CA86497925 | SI | c.285G>A (p.Trp95Ter) c.*160G>A (n.*160G>A) c.186G>A (p.Trp62Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165069166_165069169delinsCCAG | CA1417382237 | SI | c.282_285delinsCTGG (p.Cys94=) c.*157_*160delinsCTGG (n.*157_*160delinsCTGG) c.183_186delinsCTGG (p.Cys61=) | |
| 3 | g.165069167C>A | CA355035755 | SI | c.284G>T (p.Trp95Leu) c.*159G>T (n.*159G>T) c.185G>T (p.Trp62Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.165069167C= | CA1417382243 | SI | c.284G= (p.Trp95=) c.*159G= (n.*159G=) c.185G= (p.Trp62=) | |
| 3 | g.165069167C>G | CA355035757 | SI | c.284G>C (p.Trp95Ser) c.*159G>C (n.*159G>C) c.185G>C (p.Trp62Ser) | |
| 3 | g.165069167C>T | CA355035758 | SI | c.284G>A (p.Trp95Ter) c.*159G>A (n.*159G>A) c.185G>A (p.Trp62Ter) | gnomAD v4 |
| 3 | g.165069174_165069176del | CA2691555 | SI | c.282_284del (p.Cys94del) c.*157_*159del (n.*157_*159del) c.183_185del (p.Cys61del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165069168A>C | CA355035763 | SI | c.283T>G (p.Trp95Gly) c.*158T>G (n.*158T>G) c.184T>G (p.Trp62Gly) | |
| 3 | g.165069168A>G | CA355035760 | SI | c.283T>C (p.Trp95Arg) c.*158T>C (n.*158T>C) c.184T>C (p.Trp62Arg) | gnomAD v4 |
| 3 | g.165069168A>T | CA355035761 | SI | c.283T>A (p.Trp95Arg) c.*158T>A (n.*158T>A) c.184T>A (p.Trp62Arg) | |
| 3 | g.165069169G>A | CA436947808 | SI | c.282C>T (p.Cys94=) c.*157C>T (n.*157C>T) c.183C>T (p.Cys61=) | |
| 3 | g.165069169G>C | CA355035766 | SI | c.282C>G (p.Cys94Trp) c.*157C>G (n.*157C>G) c.183C>G (p.Cys61Trp) | |
| 3 | g.165069169G= | CA1417382248 | SI | c.282C= (p.Cys94=) c.*157C= (n.*157C=) c.183C= (p.Cys61=) | |
| 3 | g.165069169G>T | CA355035767 | SI | c.282C>A (p.Cys94Ter) c.*157C>A (n.*157C>A) c.183C>A (p.Cys61Ter) | dbSNP |
| 3 | g.165069170C>A | CA355035769 | SI | c.281G>T (p.Cys94Phe) c.*156G>T (n.*156G>T) c.182G>T (p.Cys61Phe) | |
| 3 | g.165069170C= | CA1417382253 | SI | c.281G= (p.Cys94=) c.*156G= (n.*156G=) c.182G= (p.Cys61=) | |
| 3 | g.165069170C>G | CA355035770 | SI | c.281G>C (p.Cys94Ser) c.*156G>C (n.*156G>C) c.182G>C (p.Cys61Ser) | |
| 3 | g.165069170C>T | CA2691556 | SI | c.281G>A (p.Cys94Tyr) c.*156G>A (n.*156G>A) c.182G>A (p.Cys61Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165069171A>C | CA355035772 | SI | c.280T>G (p.Cys94Gly) c.*155T>G (n.*155T>G) c.181T>G (p.Cys61Gly) | |
| 3 | g.165069171A>G | CA355035773 | SI | c.280T>C (p.Cys94Arg) c.*155T>C (n.*155T>C) c.181T>C (p.Cys61Arg) | |
| 3 | g.165069171A>T | CA355035774 | SI | c.280T>A (p.Cys94Ser) c.*155T>A (n.*155T>A) c.181T>A (p.Cys61Ser) | COSMIC COSMIC |
| 3 | g.165069172G>A | CA436947809 | SI | c.279C>T (p.Cys93=) c.*154C>T (n.*154C>T) c.180C>T (p.Cys60=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165069172G>C | CA355035775 | SI | c.279C>G (p.Cys93Trp) c.*154C>G (n.*154C>G) c.180C>G (p.Cys60Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165069172G= | CA1417382254 | SI | c.279C= (p.Cys93=) c.*154C= (n.*154C=) c.180C= (p.Cys60=) | |
| 3 | g.165069172G>T | CA355035776 | SI | c.279C>A (p.Cys93Ter) c.*154C>A (n.*154C>A) c.180C>A (p.Cys60Ter) | |
| 3 | g.165069173C>A | CA355035777 | SI | c.278G>T (p.Cys93Phe) c.*153G>T (n.*153G>T) c.179G>T (p.Cys60Phe) | |
| 3 | g.165069173C>G | CA355035778 | SI | c.278G>C (p.Cys93Ser) c.*153G>C (n.*153G>C) c.179G>C (p.Cys60Ser) | |
| 3 | g.165069173C>T | CA355035779 | SI | c.278G>A (p.Cys93Tyr) c.*153G>A (n.*153G>A) c.179G>A (p.Cys60Tyr) | |
| 3 | g.165069174A>C | CA355035780 | SI | c.277T>G (p.Cys93Gly) c.*152T>G (n.*152T>G) c.178T>G (p.Cys60Gly) | |
| 3 | g.165069174A>G | CA355035782 | SI | c.277T>C (p.Cys93Arg) c.*152T>C (n.*152T>C) c.178T>C (p.Cys60Arg) | |
| 3 | g.165069174A>T | CA355035781 | SI | c.277T>A (p.Cys93Ser) c.*152T>A (n.*152T>A) c.178T>A (p.Cys60Ser) | |
| 3 | g.165069174dup | CA2668425554 | SI | c.277dup (p.Cys93LeufsTer8) c.*152dup (n.*152dup) c.178dup (p.Cys60LeufsTer8) | gnomAD v4 |
| 3 | g.165069175G>A | CA436947810 | SI | c.276C>T (p.Gly92=) c.*151C>T (n.*151C>T) c.177C>T (p.Gly59=) | |
| 3 | g.165069175G>C | CA436947811 | SI | c.276C>G (p.Gly92=) c.*151C>G (n.*151C>G) c.177C>G (p.Gly59=) | |
| 3 | g.165069175G>T | CA436947812 | SI | c.276C>A (p.Gly92=) c.*151C>A (n.*151C>A) c.177C>A (p.Gly59=) | |
| 3 | g.165069176C>A | CA355035783 | SI | c.275G>T (p.Gly92Val) c.*150G>T (n.*150G>T) c.176G>T (p.Gly59Val) | dbSNP |
| 3 | g.165069176C= | CA1417382257 | SI | c.275G= (p.Gly92=) c.*150G= (n.*150G=) c.176G= (p.Gly59=) | |
| 3 | g.165069176C>G | CA355035784 | SI | c.275G>C (p.Gly92Ala) c.*150G>C (n.*150G>C) c.176G>C (p.Gly59Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.165069176C>T | CA355035785 | SI | c.275G>A (p.Gly92Asp) c.*150G>A (n.*150G>A) c.176G>A (p.Gly59Asp) | |
| 3 | g.165069176_165069178delinsCCT | CA1417382256 | SI | c.273_275delinsAGG (p.Arg91=) c.*148_*150delinsAGG (n.*148_*150delinsAGG) c.174_176delinsAGG (p.Arg58=) | |
| 3 | g.165069177C>A | CA355035786 | SI | c.274G>T (p.Gly92Cys) c.*149G>T (n.*149G>T) c.175G>T (p.Gly59Cys) | COSMIC |
| 3 | g.165069177C>G | CA355035787 | SI | c.274G>C (p.Gly92Arg) c.*149G>C (n.*149G>C) c.175G>C (p.Gly59Arg) | |
| 3 | g.165069177C>T | CA355035788 | SI | c.274G>A (p.Gly92Ser) c.*149G>A (n.*149G>A) c.175G>A (p.Gly59Ser) | gnomAD v4 |
| 3 | g.165069181_165069182del | CA2691557 | SI | c.273_274del (p.Gly92LeufsTer8) c.*148_*149del (n.*148_*149del) c.174_175del (p.Gly59LeufsTer8) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.165069178T>A | CA355035789 | SI | c.273A>T (p.Arg91Ser) c.*148A>T (n.*148A>T) c.174A>T (p.Arg58Ser) | gnomAD v4 |
| 3 | g.165069178T>C | CA436947813 | SI | c.273A>G (p.Arg91=) c.*148A>G (n.*148A>G) c.174A>G (p.Arg58=) | ClinVar |
| 3 | g.165069178T>G | CA355035790 | SI | c.273A>C (p.Arg91Ser) c.*148A>C (n.*148A>C) c.174A>C (p.Arg58Ser) | |
| 3 | g.165069179C>A | CA355035791 | SI | c.272G>T (p.Arg91Ile) c.*147G>T (n.*147G>T) c.173G>T (p.Arg58Ile) | |
| 3 | g.165069179C>G | CA355035792 | SI | c.272G>C (p.Arg91Thr) c.*147G>C (n.*147G>C) c.173G>C (p.Arg58Thr) | gnomAD v4 COSMIC |
| 3 | g.165069179C>T | CA355035793 | SI | c.272G>A (p.Arg91Lys) c.*147G>A (n.*147G>A) c.173G>A (p.Arg58Lys) | COSMIC |
| 3 | g.165069180T>A | CA355035794 | SI | c.271A>T (p.Arg91Ter) c.*146A>T (n.*146A>T) c.172A>T (p.Arg58Ter) | |
| 3 | g.165069180T>C | CA355035795 | SI | c.271A>G (p.Arg91Gly) c.*146A>G (n.*146A>G) c.172A>G (p.Arg58Gly) | |
| 3 | g.165069180T>G | CA436947814 | SI | c.271A>C (p.Arg91=) c.*146A>C (n.*146A>C) c.172A>C (p.Arg58=) | |
| 3 | g.165069181C>A | CA355035796 | SI | c.270G>T (p.Gln90His) c.*145G>T (n.*145G>T) c.171G>T (p.Gln57His) | |
| 3 | g.165069181C>G | CA355035797 | SI | c.270G>C (p.Gln90His) c.*145G>C (n.*145G>C) c.171G>C (p.Gln57His) | |
| 3 | g.165069181C>T | CA436947815 | SI | c.270G>A (p.Gln90=) c.*145G>A (n.*145G>A) c.171G>A (p.Gln57=) | |
| 3 | g.165069182T>A | CA355035798 | SI | c.269A>T (p.Gln90Leu) c.*144A>T (n.*144A>T) c.170A>T (p.Gln57Leu) | |
| 3 | g.165069182T>C | CA355035799 | SI | c.269A>G (p.Gln90Arg) c.*144A>G (n.*144A>G) c.170A>G (p.Gln57Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165069182T>G | CA355035800 | SI | c.269A>C (p.Gln90Pro) c.*144A>C (n.*144A>C) c.170A>C (p.Gln57Pro) | |
| 3 | g.165069182T= | CA1417382266 | SI | c.269A= (p.Gln90=) c.*144A= (n.*144A=) c.170A= (p.Gln57=) | |
| 3 | g.165069183G>A | CA355035801 | SI | c.268C>T (p.Gln90Ter) c.*143C>T (n.*143C>T) c.169C>T (p.Gln57Ter) | |
| 3 | g.165069183G>C | CA355035802 | SI | c.268C>G (p.Gln90Glu) c.*143C>G (n.*143C>G) c.169C>G (p.Gln57Glu) | |
| 3 | g.165069183G= | CA1417382271 | SI | c.268C= (p.Gln90=) c.*143C= (n.*143C=) c.169C= (p.Gln57=) | |
| 3 | g.165069183G>T | CA2691558 | SI | c.268C>A (p.Gln90Lys) c.*143C>A (n.*143C>A) c.169C>A (p.Gln57Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.165069184del | CA2739279300 | SI | c.267del (p.Gln90ArgfsTer?) c.*142del (n.*142del) c.168del (p.Gln57ArgfsTer?) | ClinVar |
| 3 | g.165069184T>A | CA436947818 | SI | c.267A>T (p.Ala89=) c.*142A>T (n.*142A>T) c.168A>T (p.Ala56=) | |
| 3 | g.165069184T>C | CA436947816 | SI | c.267A>G (p.Ala89=) c.*142A>G (n.*142A>G) c.168A>G (p.Ala56=) | |
| 3 | g.165069184T>G | CA436947817 | SI | c.267A>C (p.Ala89=) c.*142A>C (n.*142A>C) c.168A>C (p.Ala56=) | |
| 3 | g.165069185G>A | CA355035803 | SI | c.266C>T (p.Ala89Val) c.*141C>T (n.*141C>T) c.167C>T (p.Ala56Val) | gnomAD v4 |
| 3 | g.165069185G>C | CA355035804 | SI | c.266C>G (p.Ala89Gly) c.*141C>G (n.*141C>G) c.167C>G (p.Ala56Gly) | |
| 3 | g.165069185G>T | CA355035805 | SI | c.266C>A (p.Ala89Glu) c.*141C>A (n.*141C>A) c.167C>A (p.Ala56Glu) | gnomAD v4 |
| 3 | g.165069186C>A | CA355035806 | SI | c.265G>T (p.Ala89Ser) c.*140G>T (n.*140G>T) c.166G>T (p.Ala56Ser) | COSMIC COSMIC |
| 3 | g.165069186C>G | CA355035807 | SI | c.265G>C (p.Ala89Pro) c.*140G>C (n.*140G>C) c.166G>C (p.Ala56Pro) | |
| 3 | g.165069186C>T | CA355035808 | SI | c.265G>A (p.Ala89Thr) c.*140G>A (n.*140G>A) c.166G>A (p.Ala56Thr) | gnomAD v4 |
| 3 | g.165069187A= | CA1417382278 | SI | c.264T= (p.Cys88=) c.*139T= (n.*139T=) c.165T= (p.Cys55=) | |
| 3 | g.165069187A>C | CA355035809 | SI | c.264T>G (p.Cys88Trp) c.*139T>G (n.*139T>G) c.165T>G (p.Cys55Trp) | |
| 3 | g.165069187A>G | CA2691559 | SI | c.264T>C (p.Cys88=) c.*139T>C (n.*139T>C) c.165T>C (p.Cys55=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.165069187A>T | CA355035810 | SI | c.264T>A (p.Cys88Ter) c.*139T>A (n.*139T>A) c.165T>A (p.Cys55Ter) | |
| 3 | g.165069188C>A | CA355035811 | SI | c.263G>T (p.Cys88Phe) c.*138G>T (n.*138G>T) c.164G>T (p.Cys55Phe) | |
| 3 | g.165069188C>G | CA355035813 | SI | c.263G>C (p.Cys88Ser) c.*138G>C (n.*138G>C) c.164G>C (p.Cys55Ser) | |
| 3 | g.165069188C>T | CA355035812 | SI | c.263G>A (p.Cys88Tyr) c.*138G>A (n.*138G>A) c.164G>A (p.Cys55Tyr) | |
| 3 | g.165069189A>C | CA355035814 | SI | c.262T>G (p.Cys88Gly) c.*137T>G (n.*137T>G) c.163T>G (p.Cys55Gly) | |
| 3 | g.165069189A>G | CA355035816 | SI | c.262T>C (p.Cys88Arg) c.*137T>C (n.*137T>C) c.163T>C (p.Cys55Arg) | |
| 3 | g.165069189A>T | CA355035815 | SI | c.262T>A (p.Cys88Ser) c.*137T>A (n.*137T>A) c.163T>A (p.Cys55Ser) | |
| 3 | g.165069190A= | CA1417382304 | SI | c.261T= (p.Ile87=) c.*136T= (n.*136T=) c.162T= (p.Ile54=) | |
| 3 | g.165069190A>C | CA355035817 | SI | c.261T>G (p.Ile87Met) c.*136T>G (n.*136T>G) c.162T>G (p.Ile54Met) | |
| 3 | g.165069190A>G | CA436701734 | SI | c.261T>C (p.Ile87=) c.*136T>C (n.*136T>C) c.162T>C (p.Ile54=) | gnomAD v4 COSMIC |
| 3 | g.165069190A>T | CA436701735 | SI | c.261T>A (p.Ile87=) c.*136T>A (n.*136T>A) c.162T>A (p.Ile54=) | dbSNP |
| 3 | g.165069191A= | CA1417382307 | SI | c.260T= (p.Ile87=) c.*135T= (n.*135T=) c.161T= (p.Ile54=) | |
| 3 | g.165069191A>C | CA355035820 | SI | c.260T>G (p.Ile87Ser) c.*135T>G (n.*135T>G) c.161T>G (p.Ile54Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.165069191A>G | CA355035818 | SI | c.260T>C (p.Ile87Thr) c.*135T>C (n.*135T>C) c.161T>C (p.Ile54Thr) | |
| 3 | g.165069191A>T | CA355035819 | SI | c.260T>A (p.Ile87Asn) c.*135T>A (n.*135T>A) c.161T>A (p.Ile54Asn) | |
| 3 | g.165069192T>A | CA355035821 | SI | c.259A>T (p.Ile87Phe) c.*134A>T (n.*134A>T) c.160A>T (p.Ile54Phe) | |
| 3 | g.165069192T>C | CA355035822 | SI | c.259A>G (p.Ile87Val) c.*134A>G (n.*134A>G) c.160A>G (p.Ile54Val) | gnomAD v4 |
| 3 | g.165069192T>G | CA355035823 | SI | c.259A>C (p.Ile87Leu) c.*134A>C (n.*134A>C) c.160A>C (p.Ile54Leu) |