Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154928540C>T | CA2695168804 | F8 | c.5219+31G>A (n.5219+31G>A) c.5114+31G>A (n.5114+31G>A) | gnomAD v4 |
X | g.154928542G>A | CA2824302213 | F8 | c.5219+29C>T (n.5219+29C>T) c.5114+29C>T (n.5114+29C>T) | |
X | g.154928542G>C | CA2695168805 | F8 | c.5219+29C>G (n.5219+29C>G) c.5114+29C>G (n.5114+29C>G) | gnomAD v4 |
X | g.154928542G= | CA2466835714 | F8 | c.5219+29C= (n.5219+29C=) c.5114+29C= (n.5114+29C=) | |
X | g.154928542G>T | CA2466835715 | F8 | c.5219+29C>A (n.5219+29C>A) c.5114+29C>A (n.5114+29C>A) | dbSNP |
X | g.154928544G>A | CA645253460 | F8 | c.5219+27C>T (n.5219+27C>T) c.5114+27C>T (n.5114+27C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154928544G= | CA2466835716 | F8 | c.5219+27C= (n.5219+27C=) c.5114+27C= (n.5114+27C=) | |
X | g.154928544G>T | CA2466835717 | F8 | c.5219+27C>A (n.5219+27C>A) c.5114+27C>A (n.5114+27C>A) | dbSNP gnomAD v4 |
X | g.154928545C>A | CA2466835718 | F8 | c.5219+26G>T (n.5219+26G>T) c.5114+26G>T (n.5114+26G>T) | dbSNP gnomAD v4 |
X | g.154928545C= | CA2466835719 | F8 | c.5219+26G= (n.5219+26G=) c.5114+26G= (n.5114+26G=) | |
X | g.154928549G>C | CA2695168806 | F8 | c.5219+22C>G (n.5219+22C>G) c.5114+22C>G (n.5114+22C>G) | gnomAD v4 |
X | g.154928550_154928551delinsGA | CA2466835721 | F8 | c.5219+20_5219+21delinsTC (n.5219+20_5219+21delinsTC) c.5114+20_5114+21delinsTC (n.5114+20_5114+21delinsTC) | |
X | g.154928550_154928558delinsGAATAACCA | CA2466835720 | F8 | c.5219+13_5219+21delinsTGGTTATTC (n.5219+13_5219+21delinsTGGTTATTC) c.5114+13_5114+21delinsTGGTTATTC (n.5114+13_5114+21delinsTGGTTATTC) | |
X | g.154928552del | CA337326944 | F8 | c.5219+20del (n.5219+20del) c.5114+20del (n.5114+20del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154928552_154928559del | CA10568025 | F8 | c.5219+13_5219+20del (n.5219+13_5219+20del) c.5114+13_5114+20del (n.5114+13_5114+20del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154928556C= | CA2466835722 | F8 | c.5219+15G= (n.5219+15G=) c.5114+15G= (n.5114+15G=) | |
X | g.154928556C>T | CA2466835723 | F8 | c.5219+15G>A (n.5219+15G>A) c.5114+15G>A (n.5114+15G>A) | dbSNP |
X | g.154928559A= | CA2466835724 | F8 | c.5219+12T= (n.5219+12T=) c.5114+12T= (n.5114+12T=) | |
X | g.154928559A>G | CA10568026 | F8 | c.5219+12T>C (n.5219+12T>C) c.5114+12T>C (n.5114+12T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154928561G>T | CA2695168807 | F8 | c.5219+10C>A (n.5219+10C>A) c.5114+10C>A (n.5114+10C>A) | gnomAD v4 |
X | g.154928562C>A | CA2579744611 | F8 | c.5219+9G>T (n.5219+9G>T) c.5114+9G>T (n.5114+9G>T) | |
X | g.154928562C= | CA2466835725 | F8 | c.5219+9G= (n.5219+9G=) c.5114+9G= (n.5114+9G=) | |
X | g.154928562C>T | CA645253466 | F8 | c.5219+9G>A (n.5219+9G>A) c.5114+9G>A (n.5114+9G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154928568T>C | CA873340051 | F8 | c.5219+3A>G (n.5219+3A>G) c.5114+3A>G (n.5114+3A>G) | dbSNP |
X | g.154928568T>G | CA2695237873 | F8 | c.5219+3A>C (n.5219+3A>C) c.5114+3A>C (n.5114+3A>C) | |
X | g.154928568T= | CA2466835726 | F8 | c.5219+3A= (n.5219+3A=) c.5114+3A= (n.5114+3A=) | |
X | g.154928569A= | CA2466835727 | F8 | c.5219+2T= (n.5219+2T=) c.5114+2T= (n.5114+2T=) | |
X | g.154928569A>C | CA414913412 | F8 | c.5219+2T>G (n.5219+2T>G) c.5114+2T>G (n.5114+2T>G) | |
X | g.154928569A>G | CA414913416 | F8 | c.5219+2T>C (n.5219+2T>C) c.5114+2T>C (n.5114+2T>C) | ClinVar dbSNP |
X | g.154928569A>T | CA414913414 | F8 | c.5219+2T>A (n.5219+2T>A) c.5114+2T>A (n.5114+2T>A) | |
X | g.154928570C>A | CA414913418 | F8 | c.5219+1G>T (n.5219+1G>T) c.5114+1G>T (n.5114+1G>T) | |
X | g.154928570C= | CA2466835728 | F8 | c.5219+1G= (n.5219+1G=) c.5114+1G= (n.5114+1G=) | |
X | g.154928570C>G | CA414913422 | F8 | c.5219+1G>C (n.5219+1G>C) c.5114+1G>C (n.5114+1G>C) | |
X | g.154928570C>T | CA414913420 | F8 | c.5219+1G>A (n.5219+1G>A) c.5114+1G>A (n.5114+1G>A) | ClinVar dbSNP |
X | g.154928571C>A | CA414913424 | F8 | c.5219G>T (p.Arg1740Met) c.5114G>T (p.Arg1705Met) | ClinVar dbSNP |
X | g.154928571C= | CA2466835729 | F8 | c.5219G= (p.Arg1740=) c.5114G= (p.Arg1705=) | |
X | g.154928571C>G | CA414913427 | F8 | c.5219G>C (p.Arg1740Thr) c.5114G>C (p.Arg1705Thr) | |
X | g.154928571C>T | CA414913426 | F8 | c.5219G>A (p.Arg1740Lys) c.5114G>A (p.Arg1705Lys) | |
X | g.154928572T>A | CA414913429 | F8 | c.5218A>T (p.Arg1740Trp) c.5113A>T (p.Arg1705Trp) | |
X | g.154928572T>C | CA414913430 | F8 | c.5218A>G (p.Arg1740Gly) c.5113A>G (p.Arg1705Gly) | ClinVar |
X | g.154928572T>G | CA519374732 | F8 | c.5218A>C (p.Arg1740=) c.5113A>C (p.Arg1705=) | |
X | g.154928573G>A | CA519374734 | F8 | c.5217C>T (p.Asn1739=) c.5112C>T (p.Asn1704=) | ClinVar dbSNP gnomAD v4 |
X | g.154928573G>C | CA414913431 | F8 | c.5217C>G (p.Asn1739Lys) c.5112C>G (p.Asn1704Lys) | |
X | g.154928573G= | CA2466835730 | F8 | c.5217C= (p.Asn1739=) c.5112C= (p.Asn1704=) | |
X | g.154928573G>T | CA414913433 | F8 | c.5217C>A (p.Asn1739Lys) c.5112C>A (p.Asn1704Lys) | |
X | g.154928574T>A | CA414913435 | F8 | c.5216A>T (p.Asn1739Ile) c.5111A>T (p.Asn1704Ile) | |
X | g.154928574T>C | CA414913436 | F8 | c.5216A>G (p.Asn1739Ser) c.5111A>G (p.Asn1704Ser) | |
X | g.154928574T>G | CA414913438 | F8 | c.5216A>C (p.Asn1739Thr) c.5111A>C (p.Asn1704Thr) | |
X | g.154928576_154928579del | CA2695237880 | F8 | c.5213_5216del (p.Arg1738ThrfsTer?) c.5108_5111del (p.Arg1703ThrfsTer?) | |
X | g.154928575T>A | CA414913440 | F8 | c.5215A>T (p.Asn1739Tyr) c.5110A>T (p.Asn1704Tyr) | |
X | g.154928575T>C | CA414913442 | F8 | c.5215A>G (p.Asn1739Asp) c.5110A>G (p.Asn1704Asp) | |
X | g.154928575T>G | CA414913444 | F8 | c.5215A>C (p.Asn1739His) c.5110A>C (p.Asn1704His) | |
X | g.154928576T>A | CA414913448 | F8 | c.5214A>T (p.Arg1738Ser) c.5109A>T (p.Arg1703Ser) | |
X | g.154928576T>C | CA519374735 | F8 | c.5214A>G (p.Arg1738=) c.5109A>G (p.Arg1703=) | |
X | g.154928576T>G | CA414913447 | F8 | c.5214A>C (p.Arg1738Ser) c.5109A>C (p.Arg1703Ser) | |
X | g.154928577del | CA1139532038 | F8 | c.5213del (p.Arg1738LysfsTer?) c.5108del (p.Arg1703LysfsTer?) | |
X | g.154928577C>A | CA414913450 | F8 | c.5213G>T (p.Arg1738Ile) c.5108G>T (p.Arg1703Ile) | |
X | g.154928577C>G | CA414913452 | F8 | c.5213G>C (p.Arg1738Thr) c.5108G>C (p.Arg1703Thr) | |
X | g.154928577C>T | CA414913454 | F8 | c.5213G>A (p.Arg1738Lys) c.5108G>A (p.Arg1703Lys) | COSMIC COSMIC |
X | g.154928577_154928578delinsCT | CA2466835731 | F8 | c.5212_5213delinsAG (p.Arg1738=) c.5107_5108delinsAG (p.Arg1703=) | |
X | g.154928578T>A | CA414913456 | F8 | c.5212A>T (p.Arg1738Ter) c.5107A>T (p.Arg1703Ter) | |
X | g.154928578T>C | CA414913458 | F8 | c.5212A>G (p.Arg1738Gly) c.5107A>G (p.Arg1703Gly) | |
X | g.154928578T>G | CA519374736 | F8 | c.5212A>C (p.Arg1738=) c.5107A>C (p.Arg1703=) | |
X | g.154928579del | CA2466835732 | F8 | c.5212del (p.Arg1738GlufsTer?) c.5107del (p.Arg1703GlufsTer?) | dbSNP |
X | g.154928579T>A | CA519374737 | F8 | c.5211A>T (p.Leu1737=) c.5106A>T (p.Leu1702=) | |
X | g.154928579T>C | CA519374738 | F8 | c.5211A>G (p.Leu1737=) c.5106A>G (p.Leu1702=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154928579T>G | CA519374739 | F8 | c.5211A>C (p.Leu1737=) c.5106A>C (p.Leu1702=) | |
X | g.154928579T= | CA2466835733 | F8 | c.5211A= (p.Leu1737=) c.5106A= (p.Leu1702=) | |
X | g.154928580A>C | CA414913460 | F8 | c.5210T>G (p.Leu1737Arg) c.5105T>G (p.Leu1702Arg) | |
X | g.154928580A>G | CA414913462 | F8 | c.5210T>C (p.Leu1737Pro) c.5105T>C (p.Leu1702Pro) | |
X | g.154928580A>T | CA414913464 | F8 | c.5210T>A (p.Leu1737Gln) c.5105T>A (p.Leu1702Gln) | |
X | g.154928581G>A | CA519374740 | F8 | c.5209C>T (p.Leu1737=) c.5104C>T (p.Leu1702=) | COSMIC COSMIC |
X | g.154928581G>C | CA414913466 | F8 | c.5209C>G (p.Leu1737Val) c.5104C>G (p.Leu1702Val) | |
X | g.154928581G>T | CA414913467 | F8 | c.5209C>A (p.Leu1737Ile) c.5104C>A (p.Leu1702Ile) | |
X | g.154928582A>C | CA519374743 | F8 | c.5208T>G (p.Val1736=) c.5103T>G (p.Val1701=) | |
X | g.154928582A>G | CA519374742 | F8 | c.5208T>C (p.Val1736=) c.5103T>C (p.Val1701=) | gnomAD v4 |
X | g.154928582A>T | CA519374741 | F8 | c.5208T>A (p.Val1736=) c.5103T>A (p.Val1701=) | |
X | g.154928583A>C | CA414913471 | F8 | c.5207T>G (p.Val1736Gly) c.5102T>G (p.Val1701Gly) | |
X | g.154928583A>G | CA414913473 | F8 | c.5207T>C (p.Val1736Ala) c.5102T>C (p.Val1701Ala) | |
X | g.154928583A>T | CA414913470 | F8 | c.5207T>A (p.Val1736Asp) c.5102T>A (p.Val1701Asp) | |
X | g.154928584C>A | CA414913475 | F8 | c.5206G>T (p.Val1736Phe) c.5101G>T (p.Val1701Phe) | |
X | g.154928584C= | CA2466835734 | F8 | c.5206G= (p.Val1736=) c.5101G= (p.Val1701=) | |
X | g.154928584C>G | CA414913477 | F8 | c.5206G>C (p.Val1736Leu) c.5101G>C (p.Val1701Leu) | |
X | g.154928584C>T | CA10568027 | F8 | c.5206G>A (p.Val1736Ile) c.5101G>A (p.Val1701Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154928585A>C | CA414913478 | F8 | c.5205T>G (p.His1735Gln) c.5100T>G (p.His1700Gln) | |
X | g.154928585A>G | CA519374744 | F8 | c.5205T>C (p.His1735=) c.5100T>C (p.His1700=) | gnomAD v4 |
X | g.154928585A>T | CA414913480 | F8 | c.5205T>A (p.His1735Gln) c.5100T>A (p.His1700Gln) | |
X | g.154928586T>A | CA414913482 | F8 | c.5204A>T (p.His1735Leu) c.5099A>T (p.His1700Leu) | |
X | g.154928586T>C | CA414913484 | F8 | c.5204A>G (p.His1735Arg) c.5099A>G (p.His1700Arg) | gnomAD v4 |
X | g.154928586T>G | CA414913486 | F8 | c.5204A>C (p.His1735Pro) c.5099A>C (p.His1700Pro) | |
X | g.154928587G>A | CA414913487 | F8 | c.5203C>T (p.His1735Tyr) c.5098C>T (p.His1700Tyr) | |
X | g.154928587G>C | CA414913489 | F8 | c.5203C>G (p.His1735Asp) c.5098C>G (p.His1700Asp) | |
X | g.154928587G>T | CA414913491 | F8 | c.5203C>A (p.His1735Asn) c.5098C>A (p.His1700Asn) | |
X | g.154928588T>A | CA519374745 | F8 | c.5202A>T (p.Pro1734=) c.5097A>T (p.Pro1699=) | |
X | g.154928588T>C | CA519374747 | F8 | c.5202A>G (p.Pro1734=) c.5097A>G (p.Pro1699=) | |
X | g.154928588T>G | CA519374746 | F8 | c.5202A>C (p.Pro1734=) c.5097A>C (p.Pro1699=) | |
X | g.154928588T= | CA2466835735 | F8 | c.5202A= (p.Pro1734=) c.5097A= (p.Pro1699=) | |
X | g.154928589G>A | CA414913495 | F8 | c.5201C>T (p.Pro1734Leu) c.5096C>T (p.Pro1699Leu) | |
X | g.154928589G>C | CA414913493 | F8 | c.5201C>G (p.Pro1734Arg) c.5096C>G (p.Pro1699Arg) | |
X | g.154928589G= | CA2466835736 | F8 | c.5201C= (p.Pro1734=) c.5096C= (p.Pro1699=) | |
X | g.154928589G>T | CA10568028 | F8 | c.5201C>A (p.Pro1734Gln) c.5096C>A (p.Pro1699Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154928592dup | CA873340070 | F8 | c.5201dup (p.His1735ThrfsTer25) c.5096dup (p.His1700ThrfsTer25) | dbSNP |
X | g.154928590G>A | CA10568029 | F8 | c.5200C>T (p.Pro1734Ser) c.5095C>T (p.Pro1699Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154928590G>C | CA414913499 | F8 | c.5200C>G (p.Pro1734Ala) c.5095C>G (p.Pro1699Ala) | |
X | g.154928590G= | CA2466835737 | F8 | c.5200C= (p.Pro1734=) c.5095C= (p.Pro1699=) | |
X | g.154928590G>T | CA414913501 | F8 | c.5200C>A (p.Pro1734Thr) c.5095C>A (p.Pro1699Thr) | |
X | g.154928591G>A | CA519718337 | F8 | c.5199C>T (p.Ser1733=) c.5094C>T (p.Ser1698=) | gnomAD v4 |
X | g.154928591G>C | CA519718338 | F8 | c.5199C>G (p.Ser1733=) c.5094C>G (p.Ser1698=) | |
X | g.154928591G>T | CA519718339 | F8 | c.5199C>A (p.Ser1733=) c.5094C>A (p.Ser1698=) | |
X | g.154928592G>A | CA414913503 | F8 | c.5198C>T (p.Ser1733Phe) c.5093C>T (p.Ser1698Phe) | |
X | g.154928592G>C | CA414913505 | F8 | c.5198C>G (p.Ser1733Cys) c.5093C>G (p.Ser1698Cys) | |
X | g.154928592G>T | CA414913506 | F8 | c.5198C>A (p.Ser1733Tyr) c.5093C>A (p.Ser1698Tyr) | gnomAD v4 |
X | g.154928593A>C | CA414913508 | F8 | c.5197T>G (p.Ser1733Ala) c.5092T>G (p.Ser1698Ala) | |
X | g.154928593A>G | CA414913510 | F8 | c.5197T>C (p.Ser1733Pro) c.5092T>C (p.Ser1698Pro) | |
X | g.154928593A>T | CA414913511 | F8 | c.5197T>A (p.Ser1733Thr) c.5092T>A (p.Ser1698Thr) | |
X | g.154928594G>A | CA519718340 | F8 | c.5196C>T (p.Ser1732=) c.5091C>T (p.Ser1697=) | gnomAD v4 |
X | g.154928594G>C | CA414913513 | F8 | c.5196C>G (p.Ser1732Arg) c.5091C>G (p.Ser1697Arg) | gnomAD v4 |
X | g.154928594G>T | CA414913514 | F8 | c.5196C>A (p.Ser1732Arg) c.5091C>A (p.Ser1697Arg) | gnomAD v4 |
X | g.154928595C>A | CA414913518 | F8 | c.5195G>T (p.Ser1732Ile) c.5090G>T (p.Ser1697Ile) | |
X | g.154928595C= | CA2466835738 | F8 | c.5195G= (p.Ser1732=) c.5090G= (p.Ser1697=) | |
X | g.154928595C>G | CA10568030 | F8 | c.5195G>C (p.Ser1732Thr) c.5090G>C (p.Ser1697Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154928595C>T | CA414913515 | F8 | c.5195G>A (p.Ser1732Asn) c.5090G>A (p.Ser1697Asn) | gnomAD v4 |
X | g.154928596T>A | CA414913520 | F8 | c.5194A>T (p.Ser1732Cys) c.5089A>T (p.Ser1697Cys) | |
X | g.154928596T>C | CA414913524 | F8 | c.5194A>G (p.Ser1732Gly) c.5089A>G (p.Ser1697Gly) | |
X | g.154928596T>G | CA414913522 | F8 | c.5194A>C (p.Ser1732Arg) c.5089A>C (p.Ser1697Arg) | |
X | g.154928597A>C | CA414913526 | F8 | c.5193T>G (p.Ser1731Arg) c.5088T>G (p.Ser1696Arg) | |
X | g.154928597A>G | CA519718341 | F8 | c.5193T>C (p.Ser1731=) c.5088T>C (p.Ser1696=) | |
X | g.154928597A>T | CA414913528 | F8 | c.5193T>A (p.Ser1731Arg) c.5088T>A (p.Ser1696Arg) | |
X | g.154928598C>A | CA414913529 | F8 | c.5192G>T (p.Ser1731Ile) c.5087G>T (p.Ser1696Ile) | |
X | g.154928598C>G | CA414913530 | F8 | c.5192G>C (p.Ser1731Thr) c.5087G>C (p.Ser1696Thr) | |
X | g.154928598C>T | CA414913531 | F8 | c.5192G>A (p.Ser1731Asn) c.5087G>A (p.Ser1696Asn) | COSMIC COSMIC |
X | g.154928599T>A | CA414913533 | F8 | c.5191A>T (p.Ser1731Cys) c.5086A>T (p.Ser1696Cys) | |
X | g.154928599T>C | CA414913535 | F8 | c.5191A>G (p.Ser1731Gly) c.5086A>G (p.Ser1696Gly) | |
X | g.154928599T>G | CA414913537 | F8 | c.5191A>C (p.Ser1731Arg) c.5086A>C (p.Ser1696Arg) | |
X | g.154928600C>A | CA10568031 | F8 | c.5190G>T (p.Met1730Ile) c.5085G>T (p.Met1695Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154928600C= | CA2466835739 | F8 | c.5190G= (p.Met1730=) c.5085G= (p.Met1695=) | |
X | g.154928600C>G | CA414913539 | F8 | c.5190G>C (p.Met1730Ile) c.5085G>C (p.Met1695Ile) | |
X | g.154928600C>T | CA414913540 | F8 | c.5190G>A (p.Met1730Ile) c.5085G>A (p.Met1695Ile) | |
X | g.154928601A>C | CA414913543 | F8 | c.5189T>G (p.Met1730Arg) c.5084T>G (p.Met1695Arg) | |
X | g.154928601A>G | CA414913545 | F8 | c.5189T>C (p.Met1730Thr) c.5084T>C (p.Met1695Thr) | |
X | g.154928601A>T | CA414913544 | F8 | c.5189T>A (p.Met1730Lys) c.5084T>A (p.Met1695Lys) | |
X | g.154928602T>A | CA10568032 | F8 | c.5188A>T (p.Met1730Leu) c.5083A>T (p.Met1695Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154928602T>C | CA414913548 | F8 | c.5188A>G (p.Met1730Val) c.5083A>G (p.Met1695Val) | dbSNP |
X | g.154928602T>G | CA414913549 | F8 | c.5188A>C (p.Met1730Leu) c.5083A>C (p.Met1695Leu) | |
X | g.154928602T= | CA2466835740 | F8 | c.5188A= (p.Met1730=) c.5083A= (p.Met1695=) | |
X | g.154928603C>A | CA519718342 | F8 | c.5187G>T (p.Gly1729=) c.5082G>T (p.Gly1694=) | |
X | g.154928603C>G | CA519718343 | F8 | c.5187G>C (p.Gly1729=) c.5082G>C (p.Gly1694=) | gnomAD v4 |
X | g.154928603C>T | CA519718344 | F8 | c.5187G>A (p.Gly1729=) c.5082G>A (p.Gly1694=) | |
X | g.154928605del | CA2695237883 | F8 | c.5187del (p.Met1730Ter) c.5082del (p.Met1695Ter) | |
X | g.154928604C>A | CA414913552 | F8 | c.5186G>T (p.Gly1729Val) c.5081G>T (p.Gly1694Val) | |
X | g.154928604C= | CA2466835741 | F8 | c.5186G= (p.Gly1729=) c.5081G= (p.Gly1694=) | |
X | g.154928604C>G | CA414913554 | F8 | c.5186G>C (p.Gly1729Ala) c.5081G>C (p.Gly1694Ala) | |
X | g.154928604C>T | CA414913556 | F8 | c.5186G>A (p.Gly1729Glu) c.5081G>A (p.Gly1694Glu) | ClinVar dbSNP |
X | g.154928605C>A | CA414913558 | F8 | c.5185G>T (p.Gly1729Trp) c.5080G>T (p.Gly1694Trp) | dbSNP |
X | g.154928605C= | CA2466835742 | F8 | c.5185G= (p.Gly1729=) c.5080G= (p.Gly1694=) | |
X | g.154928605C>G | CA414913560 | F8 | c.5185G>C (p.Gly1729Arg) c.5080G>C (p.Gly1694Arg) | |
X | g.154928605C>T | CA414913562 | F8 | c.5185G>A (p.Gly1729Arg) c.5080G>A (p.Gly1694Arg) | |
X | g.154928606A>C | CA414913566 | F8 | c.5184T>G (p.Tyr1728Ter) c.5079T>G (p.Tyr1693Ter) | |
X | g.154928606A>G | CA519718345 | F8 | c.5184T>C (p.Tyr1728=) c.5079T>C (p.Tyr1693=) | gnomAD v4 |
X | g.154928606A>T | CA414913565 | F8 | c.5184T>A (p.Tyr1728Ter) c.5079T>A (p.Tyr1693Ter) | |
X | g.154928607T>A | CA414913568 | F8 | c.5183A>T (p.Tyr1728Phe) c.5078A>T (p.Tyr1693Phe) | |
X | g.154928607T>C | CA255023 | F8 | c.5183A>G (p.Tyr1728Cys) c.5078A>G (p.Tyr1693Cys) | ClinVar dbSNP |
X | g.154928607T>G | CA414913571 | F8 | c.5183A>C (p.Tyr1728Ser) c.5078A>C (p.Tyr1693Ser) | |
X | g.154928607T= | CA2466835743 | F8 | c.5183A= (p.Tyr1728=) c.5078A= (p.Tyr1693=) | |
X | g.154928608A>C | CA414913573 | F8 | c.5182T>G (p.Tyr1728Asp) c.5077T>G (p.Tyr1693Asp) | |
X | g.154928608A>G | CA414913575 | F8 | c.5182T>C (p.Tyr1728His) c.5077T>C (p.Tyr1693His) | |
X | g.154928608A>T | CA414913577 | F8 | c.5182T>A (p.Tyr1728Asn) c.5077T>A (p.Tyr1693Asn) | |
X | g.154928609A>C | CA414913579 | F8 | c.5181T>G (p.Asp1727Glu) c.5076T>G (p.Asp1692Glu) | |
X | g.154928609A>G | CA519718346 | F8 | c.5181T>C (p.Asp1727=) c.5076T>C (p.Asp1692=) | |
X | g.154928609A>T | CA414913584 | F8 | c.5181T>A (p.Asp1727Glu) c.5076T>A (p.Asp1692Glu) | |
X | g.154928610T>A | CA414913587 | F8 | c.5180A>T (p.Asp1727Val) c.5075A>T (p.Asp1692Val) | |
X | g.154928610T>C | CA414913592 | F8 | c.5180A>G (p.Asp1727Gly) c.5075A>G (p.Asp1692Gly) | |
X | g.154928610T>G | CA414913593 | F8 | c.5180A>C (p.Asp1727Ala) c.5075A>C (p.Asp1692Ala) | |
X | g.154928611C>A | CA414913598 | F8 | c.5179G>T (p.Asp1727Tyr) c.5074G>T (p.Asp1692Tyr) | |
X | g.154928611C>G | CA414913596 | F8 | c.5179G>C (p.Asp1727His) c.5074G>C (p.Asp1692His) | |
X | g.154928611C>T | CA414913595 | F8 | c.5179G>A (p.Asp1727Asn) c.5074G>A (p.Asp1692Asn) | |
X | g.154928612C>A | CA414913600 | F8 | c.5178G>T (p.Trp1726Cys) c.5073G>T (p.Trp1691Cys) | dbSNP |
X | g.154928612C= | CA2466835744 | F8 | c.5178G= (p.Trp1726=) c.5073G= (p.Trp1691=) | |
X | g.154928612C>G | CA414913602 | F8 | c.5178G>C (p.Trp1726Cys) c.5073G>C (p.Trp1691Cys) | |
X | g.154928612C>T | CA414913603 | F8 | c.5178G>A (p.Trp1726Ter) c.5073G>A (p.Trp1691Ter) | |
X | g.154928613C>A | CA414913604 | F8 | c.5177G>T (p.Trp1726Leu) c.5072G>T (p.Trp1691Leu) | |
X | g.154928613C>G | CA414913605 | F8 | c.5177G>C (p.Trp1726Ser) c.5072G>C (p.Trp1691Ser) | |
X | g.154928613C>T | CA414913606 | F8 | c.5177G>A (p.Trp1726Ter) c.5072G>A (p.Trp1691Ter) | |
X | g.154928614A>C | CA414913608 | F8 | c.5176T>G (p.Trp1726Gly) c.5071T>G (p.Trp1691Gly) | |
X | g.154928614A>G | CA414913610 | F8 | c.5176T>C (p.Trp1726Arg) c.5071T>C (p.Trp1691Arg) | |
X | g.154928614A>T | CA414913615 | F8 | c.5176T>A (p.Trp1726Arg) c.5071T>A (p.Trp1691Arg) | |
X | g.154928615G>A | CA519718349 | F8 | c.5175C>T (p.Leu1725=) c.5070C>T (p.Leu1690=) | |
X | g.154928615G>C | CA519718348 | F8 | c.5175C>G (p.Leu1725=) c.5070C>G (p.Leu1690=) | |
X | g.154928615G>T | CA519718347 | F8 | c.5175C>A (p.Leu1725=) c.5070C>A (p.Leu1690=) | gnomAD v4 |
X | g.154928616A>C | CA414913618 | F8 | c.5174T>G (p.Leu1725Arg) c.5069T>G (p.Leu1690Arg) | |
X | g.154928616A>G | CA414913620 | F8 | c.5174T>C (p.Leu1725Pro) c.5069T>C (p.Leu1690Pro) | |
X | g.154928616A>T | CA414913621 | F8 | c.5174T>A (p.Leu1725His) c.5069T>A (p.Leu1690His) | |
X | g.154928617G>A | CA414913622 | F8 | c.5173C>T (p.Leu1725Phe) c.5068C>T (p.Leu1690Phe) | dbSNP |
X | g.154928617G>C | CA414913624 | F8 | c.5173C>G (p.Leu1725Val) c.5068C>G (p.Leu1690Val) | |
X | g.154928617G= | CA2466835745 | F8 | c.5173C= (p.Leu1725=) c.5068C= (p.Leu1690=) | |
X | g.154928617G>T | CA414913623 | F8 | c.5173C>A (p.Leu1725Ile) c.5068C>A (p.Leu1690Ile) | |
X | g.154928618C>A | CA414913626 | F8 | c.5172G>T (p.Arg1724Ser) c.5067G>T (p.Arg1689Ser) | |
X | g.154928618C>G | CA414913627 | F8 | c.5172G>C (p.Arg1724Ser) c.5067G>C (p.Arg1689Ser) | |
X | g.154928618C>T | CA519718350 | F8 | c.5172G>A (p.Arg1724=) c.5067G>A (p.Arg1689=) | |
X | g.154928619C>A | CA414913628 | F8 | c.5171G>T (p.Arg1724Met) c.5066G>T (p.Arg1689Met) | |
X | g.154928619C>G | CA414913631 | F8 | c.5171G>C (p.Arg1724Thr) c.5066G>C (p.Arg1689Thr) | |
X | g.154928619C>T | CA414913630 | F8 | c.5171G>A (p.Arg1724Lys) c.5066G>A (p.Arg1689Lys) | |
X | g.154928620T>A | CA414913633 | F8 | c.5170A>T (p.Arg1724Trp) c.5065A>T (p.Arg1689Trp) | |
X | g.154928620T>C | CA414913635 | F8 | c.5170A>G (p.Arg1724Gly) c.5065A>G (p.Arg1689Gly) | |
X | g.154928620T>G | CA519718351 | F8 | c.5170A>C (p.Arg1724=) c.5065A>C (p.Arg1689=) | |
X | g.154928621C>A | CA414913638 | F8 | c.5169G>T (p.Glu1723Asp) c.5064G>T (p.Glu1688Asp) | |
X | g.154928621C>G | CA414913639 | F8 | c.5169G>C (p.Glu1723Asp) c.5064G>C (p.Glu1688Asp) | |
X | g.154928621C>T | CA519718352 | F8 | c.5169G>A (p.Glu1723=) c.5064G>A (p.Glu1688=) | gnomAD v4 |
X | g.154928622T>A | CA414913640 | F8 | c.5168A>T (p.Glu1723Val) c.5063A>T (p.Glu1688Val) | |
X | g.154928622T>C | CA414913642 | F8 | c.5168A>G (p.Glu1723Gly) c.5063A>G (p.Glu1688Gly) | |
X | g.154928622T>G | CA414913643 | F8 | c.5168A>C (p.Glu1723Ala) c.5063A>C (p.Glu1688Ala) | |
X | g.154928623C>A | CA414913645 | F8 | c.5167G>T (p.Glu1723Ter) c.5062G>T (p.Glu1688Ter) | dbSNP |
X | g.154928623C= | CA2466835746 | F8 | c.5167G= (p.Glu1723=) c.5062G= (p.Glu1688=) | |
X | g.154928623C>G | CA414913646 | F8 | c.5167G>C (p.Glu1723Gln) c.5062G>C (p.Glu1688Gln) | |
X | g.154928623C>T | CA255040 | F8 | c.5167G>A (p.Glu1723Lys) c.5062G>A (p.Glu1688Lys) | ClinVar dbSNP COSMIC COSMIC |
X | g.154928624C>A | CA519718353 | F8 | c.5166G>T (p.Val1722=) c.5061G>T (p.Val1687=) | |
X | g.154928624C>G | CA519718354 | F8 | c.5166G>C (p.Val1722=) c.5061G>C (p.Val1687=) | |
X | g.154928624C>T | CA519718355 | F8 | c.5166G>A (p.Val1722=) c.5061G>A (p.Val1687=) | |
X | g.154928625A= | CA2466835747 | F8 | c.5165T= (p.Val1722=) c.5060T= (p.Val1687=) | |
X | g.154928625A>C | CA414913656 | F8 | c.5165T>G (p.Val1722Gly) c.5060T>G (p.Val1687Gly) | |
X | g.154928625A>G | CA414913654 | F8 | c.5165T>C (p.Val1722Ala) c.5060T>C (p.Val1687Ala) | dbSNP gnomAD v4 |
X | g.154928625A>T | CA414913652 | F8 | c.5165T>A (p.Val1722Glu) c.5060T>A (p.Val1687Glu) | |
X | g.154928626C>A | CA414913662 | F8 | c.5164G>T (p.Val1722Leu) c.5059G>T (p.Val1687Leu) | |
X | g.154928626C= | CA2466835748 | F8 | c.5164G= (p.Val1722=) c.5059G= (p.Val1687=) | |
X | g.154928626C>G | CA414913664 | F8 | c.5164G>C (p.Val1722Leu) c.5059G>C (p.Val1687Leu) | |
X | g.154928626C>T | CA414913665 | F8 | c.5164G>A (p.Val1722Met) c.5059G>A (p.Val1687Met) | ClinVar dbSNP |
X | g.154928627T>A | CA519718356 | F8 | c.5163A>T (p.Ala1721=) c.5058A>T (p.Ala1686=) | |
X | g.154928627T>C | CA519718357 | F8 | c.5163A>G (p.Ala1721=) c.5058A>G (p.Ala1686=) | |
X | g.154928627T>G | CA519718358 | F8 | c.5163A>C (p.Ala1721=) c.5058A>C (p.Ala1686=) | |
X | g.154928627dup | CA2695237887 | F8 | c.5163dup (p.Val1722SerfsTer11) c.5058dup (p.Val1687SerfsTer11) | |
X | g.154928628G>A | CA414913667 | F8 | c.5162C>T (p.Ala1721Val) c.5057C>T (p.Ala1686Val) | |
X | g.154928628G>C | CA414913669 | F8 | c.5162C>G (p.Ala1721Gly) c.5057C>G (p.Ala1686Gly) | |
X | g.154928628G>T | CA414913671 | F8 | c.5162C>A (p.Ala1721Glu) c.5057C>A (p.Ala1686Glu) | |
X | g.154928629C>A | CA414913674 | F8 | c.5161G>T (p.Ala1721Ser) c.5056G>T (p.Ala1686Ser) | |
X | g.154928629C>G | CA414913675 | F8 | c.5161G>C (p.Ala1721Pro) c.5056G>C (p.Ala1686Pro) | |
X | g.154928629C>T | CA414913677 | F8 | c.5161G>A (p.Ala1721Thr) c.5056G>A (p.Ala1686Thr) | |
X | g.154928630A>C | CA519718361 | F8 | c.5160T>G (p.Ala1720=) c.5055T>G (p.Ala1685=) | |
X | g.154928630A>G | CA519718359 | F8 | c.5160T>C (p.Ala1720=) c.5055T>C (p.Ala1685=) | gnomAD v4 |
X | g.154928630A>T | CA519718360 | F8 | c.5160T>A (p.Ala1720=) c.5055T>A (p.Ala1685=) | |
X | g.154928631G>A | CA414913679 | F8 | c.5159C>T (p.Ala1720Val) c.5054C>T (p.Ala1685Val) | |
X | g.154928631G>C | CA414913681 | F8 | c.5159C>G (p.Ala1720Gly) c.5054C>G (p.Ala1685Gly) | |
X | g.154928631G>T | CA414913682 | F8 | c.5159C>A (p.Ala1720Asp) c.5054C>A (p.Ala1685Asp) | |
X | g.154928632C>A | CA414913686 | F8 | c.5158G>T (p.Ala1720Ser) c.5053G>T (p.Ala1685Ser) | gnomAD v4 |
X | g.154928632C>G | CA414913685 | F8 | c.5158G>C (p.Ala1720Pro) c.5053G>C (p.Ala1685Pro) | |
X | g.154928632C>T | CA414913684 | F8 | c.5158G>A (p.Ala1720Thr) c.5053G>A (p.Ala1685Thr) | |
X | g.154928633A>C | CA414913687 | F8 | c.5157T>G (p.Ile1719Met) c.5052T>G (p.Ile1684Met) | |
X | g.154928633A>G | CA519718362 | F8 | c.5157T>C (p.Ile1719=) c.5052T>C (p.Ile1684=) | |
X | g.154928633A>T | CA519718363 | F8 | c.5157T>A (p.Ile1719=) c.5052T>A (p.Ile1684=) | |
X | g.154928637_154928641del | CA2695237889 | F8 | c.5153_5157del (p.Phe1718CysfsTer13) c.5048_5052del (p.Phe1683CysfsTer13) | |
X | g.154928634A>C | CA414913688 | F8 | c.5156T>G (p.Ile1719Ser) c.5051T>G (p.Ile1684Ser) | |
X | g.154928634A>G | CA414913690 | F8 | c.5156T>C (p.Ile1719Thr) c.5051T>C (p.Ile1684Thr) | |
X | g.154928634A>T | CA414913692 | F8 | c.5156T>A (p.Ile1719Asn) c.5051T>A (p.Ile1684Asn) | |
X | g.154928635T>A | CA414913694 | F8 | c.5155A>T (p.Ile1719Phe) c.5050A>T (p.Ile1684Phe) | |
X | g.154928635T>C | CA414913695 | F8 | c.5155A>G (p.Ile1719Val) c.5050A>G (p.Ile1684Val) | |
X | g.154928635T>G | CA414913696 | F8 | c.5155A>C (p.Ile1719Leu) c.5050A>C (p.Ile1684Leu) | |
X | g.154928636A>C | CA414913698 | F8 | c.5154T>G (p.Phe1718Leu) c.5049T>G (p.Phe1683Leu) | |
X | g.154928636A>G | CA519718364 | F8 | c.5154T>C (p.Phe1718=) c.5049T>C (p.Phe1683=) | |
X | g.154928636A>T | CA414913699 | F8 | c.5154T>A (p.Phe1718Leu) c.5049T>A (p.Phe1683Leu) | |
X | g.154928637A>C | CA414913702 | F8 | c.5153T>G (p.Phe1718Cys) c.5048T>G (p.Phe1683Cys) | |
X | g.154928637A>G | CA414913703 | F8 | c.5153T>C (p.Phe1718Ser) c.5048T>C (p.Phe1683Ser) | |
X | g.154928637A>T | CA414913705 | F8 | c.5153T>A (p.Phe1718Tyr) c.5048T>A (p.Phe1683Tyr) | |
X | g.154928638A>C | CA414913711 | F8 | c.5152T>G (p.Phe1718Val) c.5047T>G (p.Phe1683Val) | |
X | g.154928638A>G | CA414913709 | F8 | c.5152T>C (p.Phe1718Leu) c.5047T>C (p.Phe1683Leu) | |
X | g.154928638A>T | CA414913707 | F8 | c.5152T>A (p.Phe1718Ile) c.5047T>A (p.Phe1683Ile) | |
X | g.154928638_154928639insTAGTGTA | CA2695237893 | F8 | c.5152_5153insACACTAT (p.Phe1718TyrfsTer17) c.5047_5048insACACTAT (p.Phe1683TyrfsTer17) | |
X | g.154928638_154928645dup | CA2695237892 | F8 | c.5145_5152dup (p.Phe1718TyrfsTer16) c.5040_5047dup (p.Phe1683TyrfsTer16) | |
X | g.154928639A>C | CA414913713 | F8 | c.5151T>G (p.Tyr1717Ter) c.5046T>G (p.Tyr1682Ter) | |
X | g.154928639A>G | CA519718365 | F8 | c.5151T>C (p.Tyr1717=) c.5046T>C (p.Tyr1682=) | |
X | g.154928639A>T | CA414913715 | F8 | c.5151T>A (p.Tyr1717Ter) c.5046T>A (p.Tyr1682Ter) | |
X | g.154928640_154928641del | CA1139771367 | F8 | c.5150_5151del (p.Tyr1717PhefsTer15) c.5045_5046del (p.Tyr1682PhefsTer15) | ClinVar dbSNP |
X | g.154928640del | CA2695237895 | F8 | c.5150del (p.Tyr1717PhefsTer14) c.5045del (p.Tyr1682PhefsTer14) | |
X | g.154928640T>A | CA414913717 | F8 | c.5150A>T (p.Tyr1717Phe) c.5045A>T (p.Tyr1682Phe) | |
X | g.154928640T>C | CA414913719 | F8 | c.5150A>G (p.Tyr1717Cys) c.5045A>G (p.Tyr1682Cys) | |
X | g.154928640T>G | CA414913721 | F8 | c.5150A>C (p.Tyr1717Ser) c.5045A>C (p.Tyr1682Ser) |