17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del
| ClinVar |
17 | g.80105076_80105110del | CA2695200351 | GAA | c.490_524del (p.Ile164Ter)
| ClinVar |
17 | g.80105082A>C | CA401361661 | GAA | c.496A>C (p.Thr166Pro)
| |
17 | g.80105082A>G | CA401361662 | GAA | c.496A>G (p.Thr166Ala)
| |
17 | g.80105082A>T | CA401361663 | GAA | c.496A>T (p.Thr166Ser)
| |
17 | g.80105083C>A | CA401361666 | GAA | c.497C>A (p.Thr166Asn)
| |
17 | g.80105083C>G | CA401361664 | GAA | c.497C>G (p.Thr166Ser)
| |
17 | g.80105083C>T | CA401361665 | GAA | c.497C>T (p.Thr166Ile)
| ClinVar |
17 | g.80105084C>A | CA502402516 | GAA | c.498C>A (p.Thr166=)
| |
17 | g.80105084C= | CA2277810818 | GAA | c.498C= (p.Thr166=)
| |
17 | g.80105084C>G | CA502402518 | GAA | c.498C>G (p.Thr166=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105084C>T | CA502402519 | GAA | c.498C>T (p.Thr166=)
| ClinVar gnomAD v4 |
17 | g.80105085C>A | CA401361667 | GAA | c.499C>A (p.Leu167Met)
| |
17 | g.80105085C>G | CA401361668 | GAA | c.499C>G (p.Leu167Val)
| |
17 | g.80105085C>T | CA502402521 | GAA | c.499C>T (p.Leu167=)
| ClinVar |
17 | g.80105086T>A | CA401361669 | GAA | c.500T>A (p.Leu167Gln)
| gnomAD v4 |
17 | g.80105086T>C | CA401361670 | GAA | c.500T>C (p.Leu167Pro)
| |
17 | g.80105086T>G | CA401361671 | GAA | c.500T>G (p.Leu167Arg)
| |
17 | g.80105087G>A | CA502402524 | GAA | c.501G>A (p.Leu167=)
| ClinVar dbSNP |
17 | g.80105087G>C | CA502402526 | GAA | c.501G>C (p.Leu167=)
| |
17 | g.80105087G= | CA2277810819 | GAA | c.501G= (p.Leu167=)
| |
17 | g.80105087G>T | CA502402525 | GAA | c.501G>T (p.Leu167=)
| |
17 | g.80105087_80105088delinsAA | CA2573154928 | GAA | c.501_502delinsAA (p.Leu167=)
| ClinVar dbSNP |
17 | g.80105088C>A | CA8814881 | GAA | c.502C>A (p.Arg168=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105088C= | CA2277810820 | GAA | c.502C= (p.Arg168=)
| |
17 | g.80105088C>G | CA401361672 | GAA | c.502C>G (p.Arg168Gly)
| |
17 | g.80105088C>T | CA8814882 | GAA | c.502C>T (p.Arg168Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105089G>A | CA8814884 | GAA | c.503G>A (p.Arg168Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105089G>C | CA401361673 | GAA | c.503G>C (p.Arg168Pro)
| ClinVar dbSNP |
17 | g.80105089G= | CA2277810821 | GAA | c.503G= (p.Arg168=)
| |
17 | g.80105089G>T | CA8814883 | GAA | c.503G>T (p.Arg168Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105090G>A | CA502402532 | GAA | c.504G>A (p.Arg168=)
| |
17 | g.80105090G>C | CA502402533 | GAA | c.504G>C (p.Arg168=)
| |
17 | g.80105090G>T | CA502402534 | GAA | c.504G>T (p.Arg168=)
| ClinVar gnomAD v4 |
17 | g.80105091C>A | CA401361677 | GAA | c.505C>A (p.Leu169Met)
| |
17 | g.80105091C>G | CA401361680 | GAA | c.505C>G (p.Leu169Val)
| |
17 | g.80105091C>T | CA502402537 | GAA | c.505C>T (p.Leu169=)
| |
17 | g.80105092T>A | CA401361687 | GAA | c.506T>A (p.Leu169Gln)
| |
17 | g.80105092T>C | CA401361685 | GAA | c.506T>C (p.Leu169Pro)
| ClinVar |
17 | g.80105092T>G | CA401361683 | GAA | c.506T>G (p.Leu169Arg)
| |
17 | g.80105093G>A | CA502402541 | GAA | c.507G>A (p.Leu169=)
| gnomAD v4 |
17 | g.80105093G>C | CA502402542 | GAA | c.507G>C (p.Leu169=)
| |
17 | g.80105093G= | CA2277810822 | GAA | c.507G= (p.Leu169=)
| |
17 | g.80105093G>T | CA502402543 | GAA | c.507G>T (p.Leu169=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105094G>A | CA401361691 | GAA | c.508G>A (p.Asp170Asn)
| |
17 | g.80105094G>C | CA401361693 | GAA | c.508G>C (p.Asp170His)
| |
17 | g.80105094G>T | CA401361695 | GAA | c.508G>T (p.Asp170Tyr)
| |
17 | g.80105095A= | CA2277810823 | GAA | c.509A= (p.Asp170=)
| |
17 | g.80105095A>C | CA401361698 | GAA | c.509A>C (p.Asp170Ala)
| |
17 | g.80105095A>G | CA294887359 | GAA | c.509A>G (p.Asp170Gly)
| dbSNP gnomAD v4 |
17 | g.80105095A>T | CA401361702 | GAA | c.509A>T (p.Asp170Val)
| |
17 | g.80105096C>A | CA401361705 | GAA | c.510C>A (p.Asp170Glu)
| dbSNP |
17 | g.80105096C= | CA2277810824 | GAA | c.510C= (p.Asp170=)
| |
17 | g.80105096C>G | CA401361704 | GAA | c.510C>G (p.Asp170Glu)
| |
17 | g.80105096C>T | CA8814885 | GAA | c.510C>T (p.Asp170=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105097del | CA2573054600 | GAA | c.511del (p.Val171Ter)
| ClinVar dbSNP |
17 | g.80105097G>A | CA10651252 | GAA | c.511G>A (p.Val171Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105097G>C | CA401361709 | GAA | c.511G>C (p.Val171Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105097G= | CA2277810825 | GAA | c.511G= (p.Val171=)
| |
17 | g.80105097G>T | CA401361711 | GAA | c.511G>T (p.Val171Leu)
| |
17 | g.80105098T>A | CA401361714 | GAA | c.512T>A (p.Val171Glu)
| |
17 | g.80105098T>C | CA401361716 | GAA | c.512T>C (p.Val171Ala)
| |
17 | g.80105098T>G | CA401361718 | GAA | c.512T>G (p.Val171Gly)
| |
17 | g.80105103_80105105del | CA891862611 | GAA | c.517_519del (p.Met173del)
| |
17 | g.80105099G>A | CA502402552 | GAA | c.513G>A (p.Val171=)
| |
17 | g.80105099G>C | CA502402553 | GAA | c.513G>C (p.Val171=)
| ClinVar dbSNP gnomAD v2 |
17 | g.80105099G= | CA2277810826 | GAA | c.513G= (p.Val171=)
| |
17 | g.80105099G>T | CA502402554 | GAA | c.513G>T (p.Val171=)
| gnomAD v4 |
17 | g.80105100A= | CA2277810827 | GAA | c.514A= (p.Met172=)
| |
17 | g.80105100A>C | CA401361722 | GAA | c.514A>C (p.Met172Leu)
| |
17 | g.80105100A>G | CA401361724 | GAA | c.514A>G (p.Met172Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105100A>T | CA401361726 | GAA | c.514A>T (p.Met172Leu)
| gnomAD v4 |
17 | g.80105101del | CA2640276230 | GAA | c.515del (p.Met172ArgfsTer?)
| gnomAD v4 |
17 | g.80105101T>A | CA401361729 | GAA | c.515T>A (p.Met172Lys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105101T>C | CA401361732 | GAA | c.515T>C (p.Met172Thr)
| ClinVar gnomAD v4 |
17 | g.80105101T>G | CA401361733 | GAA | c.515T>G (p.Met172Arg)
| |
17 | g.80105101T= | CA2277810828 | GAA | c.515T= (p.Met172=)
| |
17 | g.80105102G>A | CA401361736 | GAA | c.516G>A (p.Met172Ile)
| gnomAD v4 |
17 | g.80105102G>C | CA401361741 | GAA | c.516G>C (p.Met172Ile)
| |
17 | g.80105102G= | CA2277810829 | GAA | c.516G= (p.Met172=)
| |
17 | g.80105102G>T | CA401361738 | GAA | c.516G>T (p.Met172Ile)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105103A= | CA2277810830 | GAA | c.517A= (p.Met173=)
| |
17 | g.80105103A>C | CA401361744 | GAA | c.517A>C (p.Met173Leu)
| |
17 | g.80105103A>G | CA401361748 | GAA | c.517A>G (p.Met173Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105103A>T | CA401361746 | GAA | c.517A>T (p.Met173Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105104T>A | CA401361750 | GAA | c.518T>A (p.Met173Lys)
| |
17 | g.80105104T>C | CA401361752 | GAA | c.518T>C (p.Met173Thr)
| gnomAD v4 |
17 | g.80105104T>G | CA401361755 | GAA | c.518T>G (p.Met173Arg)
| |
17 | g.80105106_80105112del | CA2739265768 | GAA | c.520_526del (p.Glu174ArgfsTer?)
| ClinVar |
17 | g.80105105G>A | CA401361758 | GAA | c.519G>A (p.Met173Ile)
| |
17 | g.80105105G>C | CA401361760 | GAA | c.519G>C (p.Met173Ile)
| |
17 | g.80105105G>T | CA401361761 | GAA | c.519G>T (p.Met173Ile)
| |
17 | g.80105106G>A | CA401361764 | GAA | c.520G>A (p.Glu174Lys)
| COSMIC |
17 | g.80105106G>C | CA401361765 | GAA | c.520G>C (p.Glu174Gln)
| |
17 | g.80105106G>T | CA401361768 | GAA | c.520G>T (p.Glu174Ter)
| gnomAD v4 |
17 | g.80105107A>C | CA401361770 | GAA | c.521A>C (p.Glu174Ala)
| |
17 | g.80105107A>G | CA401361772 | GAA | c.521A>G (p.Glu174Gly)
| |
17 | g.80105107A>T | CA401361774 | GAA | c.521A>T (p.Glu174Val)
| gnomAD v4 |
17 | g.80105108G>A | CA502402566 | GAA | c.522G>A (p.Glu174=)
| ClinVar |
17 | g.80105108G>C | CA401361777 | GAA | c.522G>C (p.Glu174Asp)
| |
17 | g.80105108G= | CA2277810831 | GAA | c.522G= (p.Glu174=)
| |
17 | g.80105108G>T | CA8814886 | GAA | c.522G>T (p.Glu174Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105109A>C | CA401361781 | GAA | c.523A>C (p.Thr175Pro)
| |
17 | g.80105109A>G | CA401361783 | GAA | c.523A>G (p.Thr175Ala)
| |
17 | g.80105109A>T | CA401361785 | GAA | c.523A>T (p.Thr175Ser)
| |
17 | g.80105110C>A | CA401361789 | GAA | c.524C>A (p.Thr175Asn)
| |
17 | g.80105110C= | CA2277810833 | GAA | c.524C= (p.Thr175=)
| |
17 | g.80105110C>G | CA401361791 | GAA | c.524C>G (p.Thr175Ser)
| |
17 | g.80105110C>T | CA401361792 | GAA | c.524C>T (p.Thr175Ile)
| gnomAD v4 |
17 | g.80105110_80105111del | CA913184732 | GAA | c.524_525del (p.Thr175ArgfsTer13)
| |
17 | g.80105110_80105111delinsCT | CA2277810832 | GAA | c.524_525delinsCT (p.Thr175=)
| |
17 | g.80105110_80105112delinsCTG | CA2277810834 | GAA | c.524_526delinsCTG (p.Thr175=)
| |
17 | g.80105111del | CA220406 | GAA | c.525del (p.Glu176ArgfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105111T>A | CA502402580 | GAA | c.525T>A (p.Thr175=)
| |
17 | g.80105111T>C | CA502402579 | GAA | c.525T>C (p.Thr175=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105111T>G | CA502402578 | GAA | c.525T>G (p.Thr175=)
| |
17 | g.80105111T= | CA2277810835 | GAA | c.525T= (p.Thr175=)
| |
17 | g.80105111dup | CA8814887 | GAA | c.525dup (p.Glu176Ter)
| dbSNP ExAC gnomAD v2 |
17 | g.80105111_80105112del | CA274328 | GAA | c.525_526del (p.Asn177ProfsTer11)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105112del | CA401361805 | GAA | c.526del (p.Glu176ArgfsTer?)
| |
17 | g.80105112G>A | CA294887367 | GAA | c.526G>A (p.Glu176Lys)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105112G>C | CA401361801 | GAA | c.526G>C (p.Glu176Gln)
| COSMIC |
17 | g.80105112G= | CA2277810836 | GAA | c.526G= (p.Glu176=)
| |
17 | g.80105112G>T | CA401361802 | GAA | c.526G>T (p.Glu176Ter)
| gnomAD v4 |
17 | g.80105114_80105115del | CA2580612685 | GAA | c.528_529del (p.Asn177ProfsTer11)
| ClinVar dbSNP |
17 | g.80105113A>C | CA401361808 | GAA | c.527A>C (p.Glu176Ala)
| |
17 | g.80105113A>G | CA401361812 | GAA | c.527A>G (p.Glu176Gly)
| |
17 | g.80105113A>T | CA401361810 | GAA | c.527A>T (p.Glu176Val)
| |
17 | g.80105114G>A | CA502402582 | GAA | c.528G>A (p.Glu176=)
| gnomAD v4 |
17 | g.80105114G>C | CA401361814 | GAA | c.528G>C (p.Glu176Asp)
| |
17 | g.80105114G>T | CA401361816 | GAA | c.528G>T (p.Glu176Asp)
| gnomAD v4 |
17 | g.80105115A>C | CA401361819 | GAA | c.529A>C (p.Asn177His)
| |
17 | g.80105115A>G | CA401361822 | GAA | c.529A>G (p.Asn177Asp)
| |
17 | g.80105115A>T | CA401361824 | GAA | c.529A>T (p.Asn177Tyr)
| |
17 | g.80105116A= | CA2277810837 | GAA | c.530A= (p.Asn177=)
| |
17 | g.80105116A>C | CA294887368 | GAA | c.530A>C (p.Asn177Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105116A>G | CA401361827 | GAA | c.530A>G (p.Asn177Ser)
| |
17 | g.80105116A>T | CA401361828 | GAA | c.530A>T (p.Asn177Ile)
| |
17 | g.80105117C>A | CA401361832 | GAA | c.531C>A (p.Asn177Lys)
| COSMIC |
17 | g.80105117C= | CA2277810838 | GAA | c.531C= (p.Asn177=)
| |
17 | g.80105117C>G | CA401361834 | GAA | c.531C>G (p.Asn177Lys)
| |
17 | g.80105117C>T | CA10647050 | GAA | c.531C>T (p.Asn177=)
| ClinVar dbSNP |
17 | g.80105118C>A | CA401361843 | GAA | c.532C>A (p.Arg178Ser)
| gnomAD v4 |
17 | g.80105118C= | CA2277810839 | GAA | c.532C= (p.Arg178=)
| |
17 | g.80105118C>G | CA401361841 | GAA | c.532C>G (p.Arg178Gly)
| |
17 | g.80105118C>T | CA8814888 | GAA | c.532C>T (p.Arg178Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80105119G>A | CA8814889 | GAA | c.533G>A (p.Arg178His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105119G>C | CA401361847 | GAA | c.533G>C (p.Arg178Pro)
| |
17 | g.80105119G= | CA2277810840 | GAA | c.533G= (p.Arg178=)
| |
17 | g.80105119G>T | CA401361850 | GAA | c.533G>T (p.Arg178Leu)
| gnomAD v4 |
17 | g.80105120C>A | CA502402591 | GAA | c.534C>A (p.Arg178=)
| gnomAD v4 |
17 | g.80105120C= | CA2277810841 | GAA | c.534C= (p.Arg178=)
| |
17 | g.80105120C>G | CA8814890 | GAA | c.534C>G (p.Arg178=)
| ClinVar dbSNP ExAC gnomAD v2 |
17 | g.80105120C>T | CA502402595 | GAA | c.534C>T (p.Arg178=)
| |
17 | g.80105121C>A | CA401361855 | GAA | c.535C>A (p.Leu179Ile)
| |
17 | g.80105121C>G | CA401361857 | GAA | c.535C>G (p.Leu179Val)
| gnomAD v4 |
17 | g.80105121C>T | CA401361859 | GAA | c.535C>T (p.Leu179Phe)
| |
17 | g.80105122T>A | CA401361864 | GAA | c.536T>A (p.Leu179His)
| |
17 | g.80105122T>C | CA401361866 | GAA | c.536T>C (p.Leu179Pro)
| |
17 | g.80105122T>G | CA401361868 | GAA | c.536T>G (p.Leu179Arg)
| |
17 | g.80105123C>A | CA502402598 | GAA | c.537C>A (p.Leu179=)
| |
17 | g.80105123C>G | CA502402599 | GAA | c.537C>G (p.Leu179=)
| gnomAD v4 |
17 | g.80105123C>T | CA502402600 | GAA | c.537C>T (p.Leu179=)
| |
17 | g.80105124C>A | CA401361871 | GAA | c.538C>A (p.His180Asn)
| |
17 | g.80105124C>G | CA401361872 | GAA | c.538C>G (p.His180Asp)
| |
17 | g.80105124C>T | CA401361874 | GAA | c.538C>T (p.His180Tyr)
| |
17 | g.80105127_80105131del | CA2695227065 | GAA | c.541_545del (p.Phe181AspfsTer6)
| |
17 | g.80105125A= | CA2277810842 | GAA | c.539A= (p.His180=)
| |
17 | g.80105125A>C | CA401361878 | GAA | c.539A>C (p.His180Pro)
| gnomAD v4 |
17 | g.80105125A>G | CA8814891 | GAA | c.539A>G (p.His180Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105125A>T | CA401361877 | GAA | c.539A>T (p.His180Leu)
| |
17 | g.80105126C>A | CA401361880 | GAA | c.540C>A (p.His180Gln)
| |
17 | g.80105126C>G | CA401361881 | GAA | c.540C>G (p.His180Gln)
| |
17 | g.80105126C>T | CA502402603 | GAA | c.540C>T (p.His180=)
| |
17 | g.80105127T>A | CA401361883 | GAA | c.541T>A (p.Phe181Ile)
| |
17 | g.80105127T>C | CA8814892 | GAA | c.541T>C (p.Phe181Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105127T>G | CA401361885 | GAA | c.541T>G (p.Phe181Val)
| |
17 | g.80105127T= | CA2277810843 | GAA | c.541T= (p.Phe181=)
| |
17 | g.80105128T>A | CA401361889 | GAA | c.542T>A (p.Phe181Tyr)
| |
17 | g.80105128T>C | CA401361893 | GAA | c.542T>C (p.Phe181Ser)
| dbSNP |
17 | g.80105128T>G | CA401361890 | GAA | c.542T>G (p.Phe181Cys)
| |
17 | g.80105129C>A | CA401361894 | GAA | c.543C>A (p.Phe181Leu)
| |
17 | g.80105129C= | CA2277810844 | GAA | c.543C= (p.Phe181=)
| |
17 | g.80105129C>G | CA401361896 | GAA | c.543C>G (p.Phe181Leu)
| |
17 | g.80105129C>T | CA502402607 | GAA | c.543C>T (p.Phe181=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105130A>C | CA401361898 | GAA | c.544A>C (p.Thr182Pro)
| |
17 | g.80105130A>G | CA401361900 | GAA | c.544A>G (p.Thr182Ala)
| |
17 | g.80105130A>T | CA401361902 | GAA | c.544A>T (p.Thr182Ser)
| |
17 | g.80105131C>A | CA401361904 | GAA | c.545C>A (p.Thr182Lys)
| |
17 | g.80105131C= | CA2277810845 | GAA | c.545C= (p.Thr182=)
| |
17 | g.80105131C>G | CA8814893 | GAA | c.545C>G (p.Thr182Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105131C>T | CA8814894 | GAA | c.545C>T (p.Thr182Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105131_80105135delinsCGGTG | CA2277810846 | GAA | c.545_546+3delinsCGGTG
| |
17 | g.80105134_80105157del | CA2576660787 | GAA | c.546+2_546+25del
| |
17 | g.80105132G>A | CA8814895 | GAA | c.546G>A (p.Thr182=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105132G>C | CA10603795 | GAA | c.546G>C (p.Thr182=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105132G= | CA2277810847 | GAA | c.546G= (p.Thr182=)
| |
17 | g.80105132G>T | CA16041884 | GAA | c.546G>T (p.Thr182=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105133del | CA2695227066 | GAA | c.546+1del
| |
17 | g.80105134_80105136del | CA2576660788 | GAA | c.546+2_546+4del
| |
17 | g.80105134_80105137del | CA502402612 | GAA | c.546+2_546+5del
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105133G>A | CA401361909 | GAA | c.546+1G>A (n.546+1G>A)
| |
17 | g.80105133G>C | CA401361912 | GAA | c.546+1G>C (n.546+1G>C)
| |
17 | g.80105133G= | CA2277810848 | GAA | c.546+1G= (n.546+1G=)
| |
17 | g.80105133G>T | CA401361913 | GAA | c.546+1G>T (n.546+1G>T)
| gnomAD v4 |
17 | g.80105134T>A | CA401361915 | GAA | c.546+2T>A (n.546+2T>A)
| |
17 | g.80105134T>C | CA401361919 | GAA | c.546+2T>C (n.546+2T>C)
| ClinVar |
17 | g.80105134T>G | CA401361917 | GAA | c.546+2T>G (n.546+2T>G)
| |
17 | g.80105134T= | CA2277810849 | GAA | c.546+2T= (n.546+2T=)
| |
17 | g.80105134_80105138dup | CA8814896 | GAA | c.546+2_546+6dup (n.546+2_546+6dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105135G>A | CA8814898 | GAA | c.546+3G>A (n.546+3G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105135G= | CA2277810850 | GAA | c.546+3G= (n.546+3G=)
| |
17 | g.80105135G>T | CA2640276484 | GAA | c.546+3G>T (n.546+3G>T)
| gnomAD v4 |
17 | g.80105143_80105147dup | CA8814897 | GAA | c.546+11_546+15dup (n.546+11_546+15dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105143_80105147del | CA2576660789 | GAA | c.546+11_546+15del (n.546+11_546+15del)
| gnomAD v4 |
17 | g.80105136G>C | CA8814899 | GAA | c.546+4G>C (n.546+4G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105136G= | CA2277810851 | GAA | c.546+4G= (n.546+4G=)
| |
17 | g.80105137G>A | CA8814900 | GAA | c.546+5G>A (n.546+5G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105137G= | CA2277810852 | GAA | c.546+5G= (n.546+5G=)
| |
17 | g.80105137G>T | CA8814901 | GAA | c.546+5G>T (n.546+5G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105138C= | CA2277810853 | GAA | c.546+6C= (n.546+6C=)
| |
17 | g.80105138C>T | CA8814902 | GAA | c.546+6C>T (n.546+6C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105139A= | CA2277810854 | GAA | c.546+7A= (n.546+7A=)
| |
17 | g.80105139A>C | CA628018327 | GAA | c.546+7A>C (n.546+7A>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105139A>G | CA2573154929 | GAA | c.546+7A>G (n.546+7A>G)
| ClinVar dbSNP |
17 | g.80105139_80105144del | CA2697555225 | GAA | c.546+7_546+12del (n.546+7_546+12del)
| ClinVar |
17 | g.80105139_80105145delinsAGGGCAG | CA2277810855 | GAA | c.546+7_546+13delinsAGGGCAG (n.546+7_546+13delinsAGGGCAG)
| |
17 | g.80105140G>A | CA294887513 | GAA | c.546+8G>A (n.546+8G>A)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105140G= | CA2277810856 | GAA | c.546+8G= (n.546+8G=)
| |
17 | g.80105140G>T | CA2640276517 | GAA | c.546+8G>T (n.546+8G>T)
| gnomAD v4 |
17 | g.80105144_80105149dup | CA2640276518 | GAA | c.546+12_546+17dup (n.546+12_546+17dup)
| ClinVar gnomAD v4 |
17 | g.80105144_80105149del | CA628018328 | GAA | c.546+12_546+17del (n.546+12_546+17del)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105141G>A | CA2573154930 | GAA | c.546+9G>A (n.546+9G>A)
| ClinVar dbSNP |
17 | g.80105141G>C | CA2576660790 | GAA | c.546+9G>C (n.546+9G>C)
| |
17 | g.80105142G>A | CA2697555226 | GAA | c.546+10G>A (n.546+10G>A)
| ClinVar |
17 | g.80105142G>T | CA2640276527 | GAA | c.546+10G>T (n.546+10G>T)
| gnomAD v4 |
17 | g.80105143C>A | CA628018329 | GAA | c.546+11C>A (n.546+11C>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105143C= | CA2277810857 | GAA | c.546+11C= (n.546+11C=)
| |
17 | g.80105143C>T | CA2640276530 | GAA | c.546+11C>T (n.546+11C>T)
| gnomAD v4 |
17 | g.80105144A= | CA2277810858 | GAA | c.546+12A= (n.546+12A=)
| |
17 | g.80105144A>C | CA2640276535 | GAA | c.546+12A>C (n.546+12A>C)
| gnomAD v4 |
17 | g.80105144A>G | CA628018330 | GAA | c.546+12A>G (n.546+12A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105144_80105150delinsAGGGGCG | CA2277810859 | GAA | c.546+12_546+18delinsAGGGGCG (n.546+12_546+18delinsAGGGGCG)
| |
17 | g.80105145G>T | CA2640276542 | GAA | c.546+13G>T (n.546+13G>T)
| gnomAD v4 |
17 | g.80105152_80105157dup | CA986721133 | GAA | c.546+20_546+25dup (n.546+20_546+25dup)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105152_80105157del | CA986721144 | GAA | c.546+20_546+25del (n.546+20_546+25del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105148G>A | CA2580095295 | GAA | c.546+16G>A (n.546+16G>A)
| ClinVar gnomAD v4 |
17 | g.80105148G>C | CA2573154931 | GAA | c.546+16G>C (n.546+16G>C)
| ClinVar dbSNP |
17 | g.80105148G= | CA2277810860 | GAA | c.546+16G= (n.546+16G=)
| |
17 | g.80105148G>T | CA294887519 | GAA | c.546+16G>T (n.546+16G>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105149C>A | CA2640276556 | GAA | c.546+17C>A (n.546+17C>A)
| gnomAD v4 |
17 | g.80105149C= | CA2277810861 | GAA | c.546+17C= (n.546+17C=)
| |
17 | g.80105149C>T | CA8814903 | GAA | c.546+17C>T (n.546+17C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105149_80105150delinsCG | CA2277810862 | GAA | c.546+17_546+18delinsCG (n.546+17_546+18delinsCG)
| |
17 | g.80105150G>A | CA8814904 | GAA | c.546+18G>A (n.546+18G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105150G= | CA2277810864 | GAA | c.546+18G= (n.546+18G=)
| |
17 | g.80105150G>T | CA2640276563 | GAA | c.546+18G>T (n.546+18G>T)
| gnomAD v4 |
17 | g.80105154dup | CA919905319 | GAA | c.546+22dup (n.546+22dup)
| dbSNP |
17 | g.80105154del | CA2277810863 | GAA | c.546+22del (n.546+22del)
| dbSNP gnomAD v4 |
17 | g.80105152G>A | CA2580095296 | GAA | c.546+20G>A (n.546+20G>A)
| ClinVar gnomAD v4 |
17 | g.80105153G>A | CA2640276569 | GAA | c.546+21G>A (n.546+21G>A)
| gnomAD v4 |
17 | g.80105156_80105161dup | CA2640276568 | GAA | c.546+24_546+29dup (n.546+24_546+29dup)
| gnomAD v4 |
17 | g.80105154G>A | CA8814906 | GAA | c.546+22G>A (n.546+22G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105154G= | CA2277810865 | GAA | c.546+22G= (n.546+22G=)
| |
17 | g.80105154G>T | CA2556385190 | GAA | c.546+22G>T (n.546+22G>T)
| |
17 | g.80105154_80105155delinsGC | CA2277810866 | GAA | c.546+22_546+23delinsGC (n.546+22_546+23delinsGC)
| |
17 | g.80105155del | CA8814905 | GAA | c.546+23del (n.546+23del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105155C>A | CA2640276578 | GAA | c.546+23C>A (n.546+23C>A)
| gnomAD v4 |
17 | g.80105155C= | CA2277810868 | GAA | c.546+23C= (n.546+23C=)
| |
17 | g.80105155C>G | CA2277810867 | GAA | c.546+23C>G (n.546+23C>G)
| dbSNP |
17 | g.80105155C>T | CA8814907 | GAA | c.546+23C>T (n.546+23C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105156G>A | CA8814908 | GAA | c.546+24G>A (n.546+24G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105156G= | CA2277810869 | GAA | c.546+24G= (n.546+24G=)
| |
17 | g.80105157G>A | CA986721158 | GAA | c.546+25G>A (n.546+25G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105157G= | CA2277810870 | GAA | c.546+25G= (n.546+25G=)
| |
17 | g.80105158C>A | CA2277810872 | GAA | c.546+26C>A (n.546+26C>A)
| dbSNP gnomAD v4 |
17 | g.80105158C= | CA2277810871 | GAA | c.546+26C= (n.546+26C=)
| |
17 | g.80105158C>T | CA294887556 | GAA | c.546+26C>T (n.546+26C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105159G>A | CA8814909 | GAA | c.546+27G>A (n.546+27G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105159G>C | CA2640276587 | GAA | c.546+27G>C (n.546+27G>C)
| gnomAD v4 |
17 | g.80105159G= | CA2277810873 | GAA | c.546+27G= (n.546+27G=)
| |
17 | g.80105160G>A | CA2640276588 | GAA | c.546+28G>A (n.546+28G>A)
| gnomAD v4 |
17 | g.80105160G= | CA2277810874 | GAA | c.546+28G= (n.546+28G=)
| |
17 | g.80105160G>T | CA8814910 | GAA | c.546+28G>T (n.546+28G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105161C= | CA2277810875 | GAA | c.546+29C= (n.546+29C=)
| |
17 | g.80105161C>G | CA2277810876 | GAA | c.546+29C>G (n.546+29C>G)
| dbSNP |
17 | g.80105161C>T | CA628018331 | GAA | c.546+29C>T (n.546+29C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105164G>A | CA2277810878 | GAA | c.546+32G>A (n.546+32G>A)
| dbSNP |
17 | g.80105164G= | CA2277810877 | GAA | c.546+32G= (n.546+32G=)
| |
17 | g.80105165G= | CA2277810879 | GAA | c.546+33G= (n.546+33G=)
| |
17 | g.80105166G>A | CA2640276595 | GAA | c.546+34G>A (n.546+34G>A)
| gnomAD v4 |
17 | g.80105166G>T | CA2640276597 | GAA | c.546+34G>T (n.546+34G>T)
| gnomAD v4 |
17 | g.80105168_80105178dup | CA914212273 | GAA | c.546+36_546+46dup (n.546+36_546+46dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105167C>A | CA2640276600 | GAA | c.546+35C>A (n.546+35C>A)
| gnomAD v4 |
17 | g.80105167C>T | CA2640276601 | GAA | c.546+35C>T (n.546+35C>T)
| gnomAD v4 |
17 | g.80105169G>A | CA2640276605 | GAA | c.546+37G>A (n.546+37G>A)
| gnomAD v4 |
17 | g.80105169G>C | CA775509191 | GAA | c.546+37G>C (n.546+37G>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105169G= | CA2277810880 | GAA | c.546+37G= (n.546+37G=)
| |
17 | g.80105169G>T | CA2640276606 | GAA | c.546+37G>T (n.546+37G>T)
| gnomAD v4 |
17 | g.80105176_80105212del | CA2640276608 | GAA | c.546+44_546+80del (n.546+44_546+80del)
| gnomAD v4 |
17 | g.80105171G>A | CA628018332 | GAA | c.546+39G>A (n.546+39G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105171G>C | CA775509193 | GAA | c.546+39G>C (n.546+39G>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105171G= | CA2277810881 | GAA | c.546+39G= (n.546+39G=)
| |
17 | g.80105172G>A | CA775509208 | GAA | c.546+40G>A (n.546+40G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105172G= | CA2277810882 | GAA | c.546+40G= (n.546+40G=)
| |
17 | g.80105172G>T | CA2640276613 | GAA | c.546+40G>T (n.546+40G>T)
| gnomAD v4 |
17 | g.80105174T>A | CA8814911 | GAA | c.546+42T>A (n.546+42T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105174T>G | CA2277810884 | GAA | c.546+42T>G (n.546+42T>G)
| dbSNP |
17 | g.80105174T= | CA2277810883 | GAA | c.546+42T= (n.546+42T=)
| |
17 | g.80105175G>A | CA2640276622 | GAA | c.546+43G>A (n.546+43G>A)
| gnomAD v4 |
17 | g.80105176C>A | CA8814912 | GAA | c.546+44C>A (n.546+44C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105176C= | CA2277810885 | GAA | c.546+44C= (n.546+44C=)
| |
17 | g.80105176C>G | CA2810576315 | GAA | c.546+44C>G (n.546+44C>G)
| |
17 | g.80105176C>T | CA294887570 | GAA | c.546+44C>T (n.546+44C>T)
| dbSNP gnomAD v4 |
17 | g.80105177G>A | CA8814913 | GAA | c.546+45G>A (n.546+45G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105177G>C | CA658795232 | GAA | c.546+45G>C (n.546+45G>C)
| |
17 | g.80105177G= | CA2277810886 | GAA | c.546+45G= (n.546+45G=)
| |
17 | g.80105177G>T | CA628018333 | GAA | c.546+45G>T (n.546+45G>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105178C>A | CA2640276641 | GAA | c.546+46C>A (n.546+46C>A)
| gnomAD v4 |
17 | g.80105178C= | CA2277810887 | GAA | c.546+46C= (n.546+46C=)
| |
17 | g.80105178C>G | CA986721171 | GAA | c.546+46C>G (n.546+46C>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105178C>T | CA294887585 | GAA | c.546+46C>T (n.546+46C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105179G>A | CA8814914 | GAA | c.546+47G>A (n.546+47G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105179G= | CA2277810888 | GAA | c.546+47G= (n.546+47G=)
| |
17 | g.80105180T>C | CA8814915 | GAA | c.546+48T>C (n.546+48T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105180T= | CA2277810889 | GAA | c.546+48T= (n.546+48T=)
| |
17 | g.80105182G>A | CA2277810891 | GAA | c.546+50G>A (n.546+50G>A)
| dbSNP gnomAD v4 |
17 | g.80105182G= | CA2277810890 | GAA | c.546+50G= (n.546+50G=)
| |
17 | g.80105182G>T | CA2640276651 | GAA | c.546+50G>T (n.546+50G>T)
| gnomAD v4 |