6 | g.49459087_49459098del | CA2695206694 | MMUT | c.374_385del (p.Asp125_Lys128del)
| |
6 | g.49459085del | CA2830782663 | MMUT | c.383del (p.Lys128ArgfsTer?)
| |
6 | g.49459085T>A | CA364404858 | MMUT | c.382A>T (p.Lys128Ter)
| |
6 | g.49459085T>C | CA364404859 | MMUT | c.382A>G (p.Lys128Glu)
| |
6 | g.49459085T>G | CA364404860 | MMUT | c.382A>C (p.Lys128Gln)
| |
6 | g.49459086A>C | CA364404861 | MMUT | c.381T>G (p.Ile127Met)
| |
6 | g.49459086A>G | CA450399550 | MMUT | c.381T>C (p.Ile127=)
| |
6 | g.49459086A>T | CA450399552 | MMUT | c.381T>A (p.Ile127=)
| |
6 | g.49459087A>C | CA364404862 | MMUT | c.380T>G (p.Ile127Ser)
| |
6 | g.49459087A>G | CA364404863 | MMUT | c.380T>C (p.Ile127Thr)
| |
6 | g.49459087A>T | CA364404864 | MMUT | c.380T>A (p.Ile127Asn)
| |
6 | g.49459088T>A | CA364404865 | MMUT | c.379A>T (p.Ile127Phe)
| |
6 | g.49459088T>C | CA364404867 | MMUT | c.379A>G (p.Ile127Val)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459088T>G | CA364404866 | MMUT | c.379A>C (p.Ile127Leu)
| |
6 | g.49459088T= | CA1627396458 | MMUT | c.379A= (p.Ile127=)
| |
6 | g.49459089G>A | CA450399560 | MMUT | c.378C>T (p.Asn126=)
| gnomAD v4 |
6 | g.49459089G>C | CA364404868 | MMUT | c.378C>G (p.Asn126Lys)
| |
6 | g.49459089G= | CA1627396466 | MMUT | c.378C= (p.Asn126=)
| |
6 | g.49459089G>T | CA10575884 | MMUT | c.378C>A (p.Asn126Lys)
| ClinVar dbSNP |
6 | g.49459090T>A | CA364404869 | MMUT | c.377A>T (p.Asn126Ile)
| |
6 | g.49459090T>C | CA364404870 | MMUT | c.377A>G (p.Asn126Ser)
| gnomAD v4 |
6 | g.49459090T>G | CA364404871 | MMUT | c.377A>C (p.Asn126Thr)
| |
6 | g.49459091dup | CA2695206695 | MMUT | c.377dup (p.Asn126LysfsTer3)
| |
6 | g.49459091T>A | CA364404872 | MMUT | c.376A>T (p.Asn126Tyr)
| |
6 | g.49459091T>C | CA364404874 | MMUT | c.376A>G (p.Asn126Asp)
| dbSNP |
6 | g.49459091T>G | CA364404873 | MMUT | c.376A>C (p.Asn126His)
| gnomAD v4 |
6 | g.49459091T= | CA1627396472 | MMUT | c.376A= (p.Asn126=)
| |
6 | g.49459092G>A | CA450399568 | MMUT | c.375C>T (p.Asp125=)
| |
6 | g.49459092G>C | CA364404875 | MMUT | c.375C>G (p.Asp125Glu)
| |
6 | g.49459092G= | CA1627396475 | MMUT | c.375C= (p.Asp125=)
| |
6 | g.49459092G>T | CA364404876 | MMUT | c.375C>A (p.Asp125Glu)
| |
6 | g.49459093T>A | CA364404877 | MMUT | c.374A>T (p.Asp125Val)
| |
6 | g.49459093T>C | CA364404878 | MMUT | c.374A>G (p.Asp125Gly)
| |
6 | g.49459093T>G | CA364404879 | MMUT | c.374A>C (p.Asp125Ala)
| |
6 | g.49459094_49459096dup | CA312788 | MMUT | c.372_374dup (p.Lys124_Asp125insGlu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459094C>A | CA364404880 | MMUT | c.373G>T (p.Asp125Tyr)
| |
6 | g.49459094C= | CA1627396485 | MMUT | c.373G= (p.Asp125=)
| |
6 | g.49459094C>G | CA364404881 | MMUT | c.373G>C (p.Asp125His)
| |
6 | g.49459094C>T | CA364404882 | MMUT | c.373G>A (p.Asp125Asn)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459095C>A | CA364404883 | MMUT | c.372G>T (p.Lys124Asn)
| |
6 | g.49459095C>G | CA364404884 | MMUT | c.372G>C (p.Lys124Asn)
| |
6 | g.49459095C>T | CA450399584 | MMUT | c.372G>A (p.Lys124=)
| |
6 | g.49459096T>A | CA364404885 | MMUT | c.371A>T (p.Lys124Met)
| |
6 | g.49459096T>C | CA364404887 | MMUT | c.371A>G (p.Lys124Arg)
| |
6 | g.49459096T>G | CA364404886 | MMUT | c.371A>C (p.Lys124Thr)
| |
6 | g.49459097T>A | CA364404888 | MMUT | c.370A>T (p.Lys124Ter)
| |
6 | g.49459097T>C | CA3847132 | MMUT | c.370A>G (p.Lys124Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459097T>G | CA364404889 | MMUT | c.370A>C (p.Lys124Gln)
| |
6 | g.49459097T= | CA1627396490 | MMUT | c.370A= (p.Lys124=)
| |
6 | g.49459098A>C | CA364404890 | MMUT | c.369T>G (p.Tyr123Ter)
| gnomAD v4 |
6 | g.49459098A>G | CA450399587 | MMUT | c.369T>C (p.Tyr123=)
| gnomAD v4 |
6 | g.49459098A>T | CA364404891 | MMUT | c.369T>A (p.Tyr123Ter)
| |
6 | g.49459099T>A | CA364404892 | MMUT | c.368A>T (p.Tyr123Phe)
| |
6 | g.49459099T>C | CA364404893 | MMUT | c.368A>G (p.Tyr123Cys)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459099T>G | CA364404894 | MMUT | c.368A>C (p.Tyr123Ser)
| |
6 | g.49459099T= | CA1627396494 | MMUT | c.368A= (p.Tyr123=)
| |
6 | g.49459100A>C | CA364404895 | MMUT | c.367T>G (p.Tyr123Asp)
| |
6 | g.49459100A>G | CA364404896 | MMUT | c.367T>C (p.Tyr123His)
| |
6 | g.49459100A>T | CA364404897 | MMUT | c.367T>A (p.Tyr123Asn)
| |
6 | g.49459101G>A | CA450399601 | MMUT | c.366C>T (p.Phe122=)
| |
6 | g.49459101G>C | CA3847133 | MMUT | c.366C>G (p.Phe122Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459101G= | CA1627396497 | MMUT | c.366C= (p.Phe122=)
| |
6 | g.49459101G>T | CA364404898 | MMUT | c.366C>A (p.Phe122Leu)
| gnomAD v4 |
6 | g.49459102A>C | CA364404901 | MMUT | c.365T>G (p.Phe122Cys)
| |
6 | g.49459102A>G | CA364404899 | MMUT | c.365T>C (p.Phe122Ser)
| |
6 | g.49459102A>T | CA364404900 | MMUT | c.365T>A (p.Phe122Tyr)
| |
6 | g.49459103A= | CA1627396501 | MMUT | c.364T= (p.Phe122=)
| |
6 | g.49459103A>C | CA364404902 | MMUT | c.364T>G (p.Phe122Val)
| |
6 | g.49459103A>G | CA364404903 | MMUT | c.364T>C (p.Phe122Leu)
| |
6 | g.49459103A>T | CA364404904 | MMUT | c.364T>A (p.Phe122Ile)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459104C>A | CA364404905 | MMUT | c.363G>T (p.Lys121Asn)
| |
6 | g.49459104C= | CA1627396506 | MMUT | c.363G= (p.Lys121=)
| |
6 | g.49459104C>G | CA364404906 | MMUT | c.363G>C (p.Lys121Asn)
| |
6 | g.49459104C>T | CA3847134 | MMUT | c.363G>A (p.Lys121=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459105T>A | CA364404907 | MMUT | c.362A>T (p.Lys121Met)
| |
6 | g.49459105T>C | CA364404908 | MMUT | c.362A>G (p.Lys121Arg)
| |
6 | g.49459105T>G | CA364404909 | MMUT | c.362A>C (p.Lys121Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459105T= | CA1627396509 | MMUT | c.362A= (p.Lys121=)
| |
6 | g.49459106dup | CA913110635 | MMUT | c.362dup (p.Phe122ValfsTer3)
| |
6 | g.49459106T>A | CA364404910 | MMUT | c.361A>T (p.Lys121Ter)
| |
6 | g.49459106T>C | CA364404911 | MMUT | c.361A>G (p.Lys121Glu)
| |
6 | g.49459106T>G | CA364404912 | MMUT | c.361A>C (p.Lys121Gln)
| gnomAD v4 |
6 | g.49459106T= | CA1627396513 | MMUT | c.361A= (p.Lys121=)
| |
6 | g.49459107A>C | CA364404913 | MMUT | c.360T>G (p.Asn120Lys)
| ClinVar |
6 | g.49459107A>G | CA450399619 | MMUT | c.360T>C (p.Asn120=)
| |
6 | g.49459107A>T | CA364404914 | MMUT | c.360T>A (p.Asn120Lys)
| |
6 | g.49459107dup | CA658823265 | MMUT | c.360dup (p.Lys121Ter)
| ClinVar dbSNP |
6 | g.49459108T>A | CA364404915 | MMUT | c.359A>T (p.Asn120Ile)
| |
6 | g.49459108T>C | CA3847135 | MMUT | c.359A>G (p.Asn120Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459108T>G | CA364404916 | MMUT | c.359A>C (p.Asn120Thr)
| |
6 | g.49459108T= | CA1627396519 | MMUT | c.359A= (p.Asn120=)
| |
6 | g.49459109T>A | CA364404917 | MMUT | c.358A>T (p.Asn120Tyr)
| |
6 | g.49459109T>C | CA364404919 | MMUT | c.358A>G (p.Asn120Asp)
| |
6 | g.49459109T>G | CA364404918 | MMUT | c.358A>C (p.Asn120His)
| |
6 | g.49459110G>A | CA450399633 | MMUT | c.357C>T (p.Ser119=)
| |
6 | g.49459110G>C | CA364404920 | MMUT | c.357C>G (p.Ser119Arg)
| |
6 | g.49459110G>T | CA364404921 | MMUT | c.357C>A (p.Ser119Arg)
| |
6 | g.49459111C>A | CA364404922 | MMUT | c.356G>T (p.Ser119Ile)
| |
6 | g.49459111C= | CA1627396526 | MMUT | c.356G= (p.Ser119=)
| |
6 | g.49459111C>G | CA364404923 | MMUT | c.356G>C (p.Ser119Thr)
| |
6 | g.49459111C>T | CA364404924 | MMUT | c.356G>A (p.Ser119Asn)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459112T>A | CA364404925 | MMUT | c.355A>T (p.Ser119Cys)
| |
6 | g.49459112T>C | CA364404926 | MMUT | c.355A>G (p.Ser119Gly)
| |
6 | g.49459112T>G | CA364404927 | MMUT | c.355A>C (p.Ser119Arg)
| |
6 | g.49459113T>A | CA364404928 | MMUT | c.354A>T (p.Glu118Asp)
| |
6 | g.49459113T>C | CA450399642 | MMUT | c.354A>G (p.Glu118=)
| |
6 | g.49459113T>G | CA364404929 | MMUT | c.354A>C (p.Glu118Asp)
| |
6 | g.49459114T>A | CA364404930 | MMUT | c.353A>T (p.Glu118Val)
| |
6 | g.49459114T>C | CA364404931 | MMUT | c.353A>G (p.Glu118Gly)
| |
6 | g.49459114T>G | CA364404932 | MMUT | c.353A>C (p.Glu118Ala)
| |
6 | g.49459115C>A | CA364404935 | MMUT | c.352G>T (p.Glu118Ter)
| |
6 | g.49459115C>G | CA364404934 | MMUT | c.352G>C (p.Glu118Gln)
| |
6 | g.49459115C>T | CA364404933 | MMUT | c.352G>A (p.Glu118Lys)
| |
6 | g.49459116T>A | CA364404936 | MMUT | c.351A>T (p.Glu117Asp)
| |
6 | g.49459116T>C | CA450399649 | MMUT | c.351A>G (p.Glu117=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459116T>G | CA364404937 | MMUT | c.351A>C (p.Glu117Asp)
| |
6 | g.49459116T= | CA1627396528 | MMUT | c.351A= (p.Glu117=)
| |
6 | g.49459117T>A | CA364404938 | MMUT | c.350A>T (p.Glu117Val)
| |
6 | g.49459117T>C | CA364404939 | MMUT | c.350A>G (p.Glu117Gly)
| |
6 | g.49459117T>G | CA364404940 | MMUT | c.350A>C (p.Glu117Ala)
| |
6 | g.49459118C>A | CA115264 | MMUT | c.349G>T (p.Glu117Ter)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459118C= | CA1627396534 | MMUT | c.349G= (p.Glu117=)
| |
6 | g.49459118C>G | CA364404941 | MMUT | c.349G>C (p.Glu117Gln)
| |
6 | g.49459118C>T | CA364404942 | MMUT | c.349G>A (p.Glu117Lys)
| dbSNP gnomAD v4 |
6 | g.49459119del | CA2770993585 | MMUT | c.349del (p.Glu117LysfsTer?)
| |
6 | g.49459119C>A | CA450399655 | MMUT | c.348G>T (p.Val116=)
| |
6 | g.49459119C>G | CA450399656 | MMUT | c.348G>C (p.Val116=)
| |
6 | g.49459119C>T | CA450399657 | MMUT | c.348G>A (p.Val116=)
| |
6 | g.49459120A>C | CA364404943 | MMUT | c.347T>G (p.Val116Gly)
| |
6 | g.49459120A>G | CA364404944 | MMUT | c.347T>C (p.Val116Ala)
| |
6 | g.49459120A>T | CA364404945 | MMUT | c.347T>A (p.Val116Glu)
| |
6 | g.49459121C>A | CA364404948 | MMUT | c.346G>T (p.Val116Leu)
| |
6 | g.49459121C>G | CA364404947 | MMUT | c.346G>C (p.Val116Leu)
| |
6 | g.49459121C>T | CA364404946 | MMUT | c.346G>A (p.Val116Met)
| gnomAD v4 |
6 | g.49459122A= | CA1627396540 | MMUT | c.345T= (p.Thr115=)
| |
6 | g.49459122A>C | CA450399663 | MMUT | c.345T>G (p.Thr115=)
| |
6 | g.49459122A>G | CA138800930 | MMUT | c.345T>C (p.Thr115=)
| dbSNP gnomAD v4 |
6 | g.49459122A>T | CA138800931 | MMUT | c.345T>A (p.Thr115=)
| ClinVar dbSNP |
6 | g.49459123G>A | CA364404949 | MMUT | c.344C>T (p.Thr115Ile)
| gnomAD v4 |
6 | g.49459123G>C | CA364404950 | MMUT | c.344C>G (p.Thr115Ser)
| |
6 | g.49459123G>T | CA364404951 | MMUT | c.344C>A (p.Thr115Asn)
| |
6 | g.49459124T>A | CA364404952 | MMUT | c.343A>T (p.Thr115Ser)
| |
6 | g.49459124T>C | CA364404953 | MMUT | c.343A>G (p.Thr115Ala)
| |
6 | g.49459124T>G | CA364404954 | MMUT | c.343A>C (p.Thr115Pro)
| |
6 | g.49459125A= | CA1627396545 | MMUT | c.342T= (p.Ser114=)
| |
6 | g.49459125A>C | CA364404955 | MMUT | c.342T>G (p.Ser114Arg)
| |
6 | g.49459125A>G | CA3847136 | MMUT | c.342T>C (p.Ser114=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459125A>T | CA364404956 | MMUT | c.342T>A (p.Ser114Arg)
| |
6 | g.49459126C>A | CA364404957 | MMUT | c.341G>T (p.Ser114Ile)
| |
6 | g.49459126C>G | CA364404958 | MMUT | c.341G>C (p.Ser114Thr)
| |
6 | g.49459126C>T | CA364404959 | MMUT | c.341G>A (p.Ser114Asn)
| |
6 | g.49459127T>A | CA364404962 | MMUT | c.340A>T (p.Ser114Cys)
| |
6 | g.49459127T>C | CA364404960 | MMUT | c.340A>G (p.Ser114Gly)
| |
6 | g.49459127T>G | CA364404961 | MMUT | c.340A>C (p.Ser114Arg)
| |
6 | g.49459128A= | CA1627396547 | MMUT | c.339T= (p.Phe113=)
| |
6 | g.49459128A>C | CA364404963 | MMUT | c.339T>G (p.Phe113Leu)
| |
6 | g.49459128A>G | CA450399682 | MMUT | c.339T>C (p.Phe113=)
| dbSNP |
6 | g.49459128A>T | CA364404964 | MMUT | c.339T>A (p.Phe113Leu)
| |
6 | g.49459129A>C | CA364404965 | MMUT | c.338T>G (p.Phe113Cys)
| |
6 | g.49459129A>G | CA364404966 | MMUT | c.338T>C (p.Phe113Ser)
| |
6 | g.49459129A>T | CA364404967 | MMUT | c.338T>A (p.Phe113Tyr)
| |
6 | g.49459130A>C | CA364404968 | MMUT | c.337T>G (p.Phe113Val)
| |
6 | g.49459130A>G | CA364404969 | MMUT | c.337T>C (p.Phe113Leu)
| |
6 | g.49459130A>T | CA364404970 | MMUT | c.337T>A (p.Phe113Ile)
| |
6 | g.49459131A>C | CA450399690 | MMUT | c.336T>G (p.Gly112=)
| gnomAD v4 |
6 | g.49459131A>G | CA450399692 | MMUT | c.336T>C (p.Gly112=)
| ClinVar |
6 | g.49459131A>T | CA450399694 | MMUT | c.336T>A (p.Gly112=)
| |
6 | g.49459132C>A | CA364404971 | MMUT | c.335G>T (p.Gly112Val)
| |
6 | g.49459132C>G | CA364404972 | MMUT | c.335G>C (p.Gly112Ala)
| |
6 | g.49459132C>T | CA364404973 | MMUT | c.335G>A (p.Gly112Asp)
| |
6 | g.49459133C>A | CA364404975 | MMUT | c.334G>T (p.Gly112Cys)
| gnomAD v4 |
6 | g.49459133C>G | CA364404976 | MMUT | c.334G>C (p.Gly112Arg)
| |
6 | g.49459133C>T | CA364404974 | MMUT | c.334G>A (p.Gly112Ser)
| |
6 | g.49459134A= | CA1627396552 | MMUT | c.333T= (p.Ala111=)
| |
6 | g.49459134A>C | CA450399708 | MMUT | c.333T>G (p.Ala111=)
| |
6 | g.49459134A>G | CA450399712 | MMUT | c.333T>C (p.Ala111=)
| ClinVar dbSNP gnomAD v2 |
6 | g.49459134A>T | CA450399713 | MMUT | c.333T>A (p.Ala111=)
| |
6 | g.49459135G>A | CA364404979 | MMUT | c.332C>T (p.Ala111Val)
| |
6 | g.49459135G>C | CA364404977 | MMUT | c.332C>G (p.Ala111Gly)
| |
6 | g.49459135G>T | CA364404978 | MMUT | c.332C>A (p.Ala111Asp)
| |
6 | g.49459136C>A | CA364404980 | MMUT | c.331G>T (p.Ala111Ser)
| |
6 | g.49459136C>G | CA364404981 | MMUT | c.331G>C (p.Ala111Pro)
| gnomAD v4 |
6 | g.49459136C>T | CA364404982 | MMUT | c.331G>A (p.Ala111Thr)
| |
6 | g.49459137A= | CA1627396559 | MMUT | c.330T= (p.Tyr110=)
| |
6 | g.49459137A>C | CA10575885 | MMUT | c.330T>G (p.Tyr110Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459137A>G | CA450399722 | MMUT | c.330T>C (p.Tyr110=)
| ClinVar dbSNP |
6 | g.49459137A>T | CA364404983 | MMUT | c.330T>A (p.Tyr110Ter)
| |
6 | g.49459138T>A | CA364404984 | MMUT | c.329A>T (p.Tyr110Phe)
| |
6 | g.49459138T>C | CA312775 | MMUT | c.329A>G (p.Tyr110Cys)
| ClinVar dbSNP |
6 | g.49459138T>G | CA364404985 | MMUT | c.329A>C (p.Tyr110Ser)
| |
6 | g.49459138T= | CA1627396571 | MMUT | c.329A= (p.Tyr110=)
| |
6 | g.49459139A>C | CA364404986 | MMUT | c.328T>G (p.Tyr110Asp)
| |
6 | g.49459139A>G | CA364404987 | MMUT | c.328T>C (p.Tyr110His)
| gnomAD v4 |
6 | g.49459139A>T | CA364404988 | MMUT | c.328T>A (p.Tyr110Asn)
| |
6 | g.49459140C>A | CA364404990 | MMUT | c.327G>T (p.Gln109His)
| |
6 | g.49459140C= | CA1627396575 | MMUT | c.327G= (p.Gln109=)
| |
6 | g.49459140C>G | CA364404989 | MMUT | c.327G>C (p.Gln109His)
| |
6 | g.49459140C>T | CA3847137 | MMUT | c.327G>A (p.Gln109=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459142_49459160del | CA2695206696 | MMUT | c.309_327del (p.Arg103SerfsTer?)
| |
6 | g.49459141T>A | CA364404991 | MMUT | c.326A>T (p.Gln109Leu)
| |
6 | g.49459141T>C | CA364404992 | MMUT | c.326A>G (p.Gln109Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459141T>G | CA364404993 | MMUT | c.326A>C (p.Gln109Pro)
| |
6 | g.49459141T= | CA1627396581 | MMUT | c.326A= (p.Gln109=)
| |
6 | g.49459142G>A | CA364404994 | MMUT | c.325C>T (p.Gln109Ter)
| |
6 | g.49459142G>C | CA364404995 | MMUT | c.325C>G (p.Gln109Glu)
| |
6 | g.49459142G>T | CA364404996 | MMUT | c.325C>A (p.Gln109Lys)
| |
6 | g.49459143G>A | CA450399739 | MMUT | c.324C>T (p.Arg108=)
| gnomAD v4 |
6 | g.49459143G>C | CA450399745 | MMUT | c.324C>G (p.Arg108=)
| |
6 | g.49459143G>T | CA450399743 | MMUT | c.324C>A (p.Arg108=)
| |
6 | g.49459144C>A | CA364404997 | MMUT | c.323G>T (p.Arg108Leu)
| ClinVar gnomAD v4 |
6 | g.49459144C= | CA1627396592 | MMUT | c.323G= (p.Arg108=)
| |
6 | g.49459144C>G | CA364404998 | MMUT | c.323G>C (p.Arg108Pro)
| |
6 | g.49459144C>T | CA235522 | MMUT | c.323G>A (p.Arg108His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.49459144_49459145delinsCG | CA1627396587 | MMUT | c.322_323delinsCG (p.Arg108=)
| |
6 | g.49459145G>A | CA249732 | MMUT | c.322C>T (p.Arg108Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459145G>C | CA364404999 | MMUT | c.322C>G (p.Arg108Gly)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459145G= | CA1627396604 | MMUT | c.322C= (p.Arg108=)
| |
6 | g.49459145G>T | CA364405000 | MMUT | c.322C>A (p.Arg108Ser)
| |
6 | g.49459146del | CA566931455 | MMUT | c.322del (p.Arg108AlafsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459146G>A | CA3847138 | MMUT | c.321C>T (p.Ile107=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.49459146G>C | CA364405001 | MMUT | c.321C>G (p.Ile107Met)
| |
6 | g.49459146G= | CA1627396613 | MMUT | c.321C= (p.Ile107=)
| |
6 | g.49459146G>T | CA450399754 | MMUT | c.321C>A (p.Ile107=)
| dbSNP |
6 | g.49459147A>C | CA364405002 | MMUT | c.320T>G (p.Ile107Ser)
| |
6 | g.49459147A>G | CA364405003 | MMUT | c.320T>C (p.Ile107Thr)
| |
6 | g.49459147A>T | CA364405004 | MMUT | c.320T>A (p.Ile107Asn)
| |
6 | g.49459148T>A | CA364405005 | MMUT | c.319A>T (p.Ile107Phe)
| gnomAD v4 |
6 | g.49459148T>C | CA364405006 | MMUT | c.319A>G (p.Ile107Val)
| gnomAD v4 |
6 | g.49459148T>G | CA364405007 | MMUT | c.319A>C (p.Ile107Leu)
| |
6 | g.49459148_49459149delinsTG | CA1627396617 | MMUT | c.318_319delinsCA (p.Thr106=)
| |
6 | g.49459149G>A | CA450609505 | MMUT | c.318C>T (p.Thr106=)
| gnomAD v4 |
6 | g.49459149G>C | CA450609506 | MMUT | c.318C>G (p.Thr106=)
| |
6 | g.49459149G>T | CA450609507 | MMUT | c.318C>A (p.Thr106=)
| |
6 | g.49459150del | CA825483786 | MMUT | c.318del (p.Ile107SerfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459150G>A | CA364405010 | MMUT | c.317C>T (p.Thr106Ile)
| ClinVar dbSNP |
6 | g.49459150G>C | CA364405009 | MMUT | c.317C>G (p.Thr106Ser)
| |
6 | g.49459150G= | CA1627396628 | MMUT | c.317C= (p.Thr106=)
| |
6 | g.49459150G>T | CA364405008 | MMUT | c.317C>A (p.Thr106Asn)
| |
6 | g.49459151T>A | CA364405011 | MMUT | c.316A>T (p.Thr106Ser)
| |
6 | g.49459151T>C | CA364405012 | MMUT | c.316A>G (p.Thr106Ala)
| |
6 | g.49459151T>G | CA364405013 | MMUT | c.316A>C (p.Thr106Pro)
| |
6 | g.49459152C>A | CA364405014 | MMUT | c.315G>T (p.Trp105Cys)
| |
6 | g.49459152C>G | CA364405015 | MMUT | c.315G>C (p.Trp105Cys)
| |
6 | g.49459152C>T | CA364405016 | MMUT | c.315G>A (p.Trp105Ter)
| gnomAD v4 |
6 | g.49459153C>A | CA364405017 | MMUT | c.314G>T (p.Trp105Leu)
| gnomAD v4 |
6 | g.49459153C>G | CA364405019 | MMUT | c.314G>C (p.Trp105Ser)
| |
6 | g.49459153C>T | CA364405018 | MMUT | c.314G>A (p.Trp105Ter)
| |
6 | g.49459154A= | CA1627396630 | MMUT | c.313T= (p.Trp105=)
| |
6 | g.49459154A>C | CA364405020 | MMUT | c.313T>G (p.Trp105Gly)
| |
6 | g.49459154A>G | CA249727 | MMUT | c.313T>C (p.Trp105Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459154A>T | CA364405021 | MMUT | c.313T>A (p.Trp105Arg)
| |
6 | g.49459154_49459155delinsAG | CA1627396633 | MMUT | c.312_313delinsCT (p.Pro104=)
| |
6 | g.49459155G>A | CA450609511 | MMUT | c.312C>T (p.Pro104=)
| gnomAD v4 |
6 | g.49459155G>C | CA450609512 | MMUT | c.312C>G (p.Pro104=)
| gnomAD v4 |
6 | g.49459155G>T | CA450609513 | MMUT | c.312C>A (p.Pro104=)
| |
6 | g.49459157del | CA16618295 | MMUT | c.312del (p.Trp105GlyfsTer?)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459156G>A | CA364405022 | MMUT | c.311C>T (p.Pro104Leu)
| COSMIC |
6 | g.49459156G>C | CA364405023 | MMUT | c.311C>G (p.Pro104Arg)
| |
6 | g.49459156G>T | CA364405024 | MMUT | c.311C>A (p.Pro104His)
| |
6 | g.49459157G>A | CA3847139 | MMUT | c.310C>T (p.Pro104Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459157G>C | CA364405025 | MMUT | c.310C>G (p.Pro104Ala)
| |
6 | g.49459157G= | CA1627396650 | MMUT | c.310C= (p.Pro104=)
| |
6 | g.49459157G>T | CA364405026 | MMUT | c.310C>A (p.Pro104Thr)
| |
6 | g.49459158C>A | CA364405027 | MMUT | c.309G>T (p.Arg103Ser)
| gnomAD v4 |
6 | g.49459158C>G | CA364405028 | MMUT | c.309G>C (p.Arg103Ser)
| |
6 | g.49459158C>T | CA450609517 | MMUT | c.309G>A (p.Arg103=)
| gnomAD v4 |
6 | g.49459159C>A | CA364405031 | MMUT | c.308G>T (p.Arg103Met)
| |
6 | g.49459159C>G | CA364405030 | MMUT | c.308G>C (p.Arg103Thr)
| |
6 | g.49459159C>T | CA364405029 | MMUT | c.308G>A (p.Arg103Lys)
| |
6 | g.49459159_49459160insGCACCGCG | CA2550235074 | MMUT | c.307_308insCGCGGTGC (p.Arg103ThrfsTer?)
| |
6 | g.49459160T>A | CA364405032 | MMUT | c.307A>T (p.Arg103Trp)
| |
6 | g.49459160T>C | CA364405033 | MMUT | c.307A>G (p.Arg103Gly)
| |
6 | g.49459160T>G | CA450609521 | MMUT | c.307A>C (p.Arg103=)
| |
6 | g.49459161A>C | CA364405034 | MMUT | c.306T>G (p.Phe102Leu)
| |
6 | g.49459161A>G | CA450609522 | MMUT | c.306T>C (p.Phe102=)
| gnomAD v4 |
6 | g.49459161A>T | CA364405035 | MMUT | c.306T>A (p.Phe102Leu)
| |
6 | g.49459161_49459162insCATGGTGGCCTGCGGGCCGCGC | CA2544888496 | MMUT | c.305_306insGCGCGGCCCGCAGGCCACCATG (p.Phe102LeufsTer9)
| |
6 | g.49459162A>C | CA364405036 | MMUT | c.305T>G (p.Phe102Cys)
| |
6 | g.49459162A>G | CA364405037 | MMUT | c.305T>C (p.Phe102Ser)
| |
6 | g.49459162A>T | CA364405038 | MMUT | c.305T>A (p.Phe102Tyr)
| gnomAD v4 |
6 | g.49459163A= | CA1627396653 | MMUT | c.304T= (p.Phe102=)
| |
6 | g.49459163A>C | CA364405039 | MMUT | c.304T>G (p.Phe102Val)
| dbSNP |
6 | g.49459163A>G | CA364405040 | MMUT | c.304T>C (p.Phe102Leu)
| |
6 | g.49459163A>T | CA364405041 | MMUT | c.304T>A (p.Phe102Ile)
| |
6 | g.49459164G>A | CA450609527 | MMUT | c.303C>T (p.Thr101=)
| dbSNP gnomAD v4 |
6 | g.49459164G>C | CA450609526 | MMUT | c.303C>G (p.Thr101=)
| |
6 | g.49459164G= | CA1627396655 | MMUT | c.303C= (p.Thr101=)
| |
6 | g.49459164G>T | CA450609525 | MMUT | c.303C>A (p.Thr101=)
| |
6 | g.49459164_49459165insAAAGGCTCAAAGCCCGGCAGCGTGTCG | CA2512341428 | MMUT | c.303_304insGACACGCTGCCGGGCTTTGAGCCTTTC (p.Thr101_Phe102insAspThrLeuProGlyPheGluProPhe)
| |
6 | g.49459165G>A | CA364405042 | MMUT | c.302C>T (p.Thr101Ile)
| gnomAD v4 |
6 | g.49459165G>C | CA364405043 | MMUT | c.302C>G (p.Thr101Ser)
| |
6 | g.49459165G>T | CA364405044 | MMUT | c.302C>A (p.Thr101Asn)
| |
6 | g.49459166T>A | CA364405045 | MMUT | c.301A>T (p.Thr101Ser)
| |
6 | g.49459166T>C | CA364405046 | MMUT | c.301A>G (p.Thr101Ala)
| COSMIC |
6 | g.49459166T>G | CA364405047 | MMUT | c.301A>C (p.Thr101Pro)
| dbSNP |
6 | g.49459166T= | CA1627396659 | MMUT | c.301A= (p.Thr101=)
| |
6 | g.49459168_49459169dup | CA2695206697 | MMUT | c.300_301dup (p.Thr101IlefsTer?)
| |
6 | g.49459167A>C | CA364405049 | MMUT | c.300T>G (p.Tyr100Ter)
| |
6 | g.49459167A>G | CA450609534 | MMUT | c.300T>C (p.Tyr100=)
| |
6 | g.49459167A>T | CA364405048 | MMUT | c.300T>A (p.Tyr100Ter)
| gnomAD v4 |
6 | g.49459168T>A | CA364405050 | MMUT | c.299A>T (p.Tyr100Phe)
| |
6 | g.49459168T>C | CA347866 | MMUT | c.299A>G (p.Tyr100Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459168T>G | CA364405051 | MMUT | c.299A>C (p.Tyr100Ser)
| |
6 | g.49459168T= | CA1627396661 | MMUT | c.299A= (p.Tyr100=)
| |
6 | g.49459169A>C | CA364405052 | MMUT | c.298T>G (p.Tyr100Asp)
| |
6 | g.49459169A>G | CA364405053 | MMUT | c.298T>C (p.Tyr100His)
| |
6 | g.49459169A>T | CA364405054 | MMUT | c.298T>A (p.Tyr100Asn)
| |
6 | g.49459169_49459170insAGG | CA2511671229 | MMUT | c.297_298insCCT (p.Met99_Tyr100insPro)
| |
6 | g.49459170C>A | CA364405055 | MMUT | c.297G>T (p.Met99Ile)
| |
6 | g.49459170C>G | CA364405056 | MMUT | c.297G>C (p.Met99Ile)
| |
6 | g.49459170C>T | CA364405057 | MMUT | c.297G>A (p.Met99Ile)
| |
6 | g.49459171A= | CA1627396668 | MMUT | c.296T= (p.Met99=)
| |
6 | g.49459171A>C | CA364405058 | MMUT | c.296T>G (p.Met99Arg)
| |
6 | g.49459171A>G | CA364405059 | MMUT | c.296T>C (p.Met99Thr)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459171A>T | CA364405060 | MMUT | c.296T>A (p.Met99Lys)
| |
6 | g.49459172del | CA2524736650 | MMUT | c.295del (p.Met99CysfsTer?)
| |
6 | g.49459172T>A | CA364405062 | MMUT | c.295A>T (p.Met99Leu)
| |
6 | g.49459172T>C | CA364405063 | MMUT | c.295A>G (p.Met99Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459172T>G | CA364405061 | MMUT | c.295A>C (p.Met99Leu)
| |
6 | g.49459172T= | CA1627396673 | MMUT | c.295A= (p.Met99=)
| |
6 | g.49459173G>A | CA450609542 | MMUT | c.294C>T (p.Thr98=)
| |
6 | g.49459173G>C | CA450609543 | MMUT | c.294C>G (p.Thr98=)
| |
6 | g.49459173G>T | CA450609544 | MMUT | c.294C>A (p.Thr98=)
| |
6 | g.49459174G>A | CA364405064 | MMUT | c.293C>T (p.Thr98Ile)
| gnomAD v4 COSMIC |
6 | g.49459174G>C | CA364405065 | MMUT | c.293C>G (p.Thr98Ser)
| gnomAD v4 |
6 | g.49459174G>T | CA364405066 | MMUT | c.293C>A (p.Thr98Asn)
| |
6 | g.49459175T>A | CA364405067 | MMUT | c.292A>T (p.Thr98Ser)
| |
6 | g.49459175T>C | CA3847141 | MMUT | c.292A>G (p.Thr98Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459175T>G | CA3847140 | MMUT | c.292A>C (p.Thr98Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459175T= | CA1627396683 | MMUT | c.292A= (p.Thr98=)
| |
6 | g.49459175_49459176insTTTTGATGTCTTGCGCCGTGTAAAGCGGCTTGACCGTGATGCCGTCAGGCGTG | CA2549255370 | MMUT | c.291_292insCACGCCTGACGGCATCACGGTCAAGCCGCTTTACACGGCGCAAGACATCAAAA (p.Thr98HisfsTer3)
| |
6 | g.49459176A= | CA1627396692 | MMUT | c.291T= (p.Pro97=)
| |
6 | g.49459176A>C | CA450609546 | MMUT | c.291T>G (p.Pro97=)
| |
6 | g.49459176A>G | CA3847142 | MMUT | c.291T>C (p.Pro97=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459176A>T | CA450609547 | MMUT | c.291T>A (p.Pro97=)
| |
6 | g.49459177G>A | CA364405068 | MMUT | c.290C>T (p.Pro97Leu)
| |
6 | g.49459177G>C | CA364405069 | MMUT | c.290C>G (p.Pro97Arg)
| |
6 | g.49459177G>T | CA364405070 | MMUT | c.290C>A (p.Pro97His)
| |
6 | g.49459178G>A | CA364405071 | MMUT | c.289C>T (p.Pro97Ser)
| gnomAD v4 |
6 | g.49459178G>C | CA364405072 | MMUT | c.289C>G (p.Pro97Ala)
| |
6 | g.49459178G>T | CA364405073 | MMUT | c.289C>A (p.Pro97Thr)
| COSMIC |
6 | g.49459179A>C | CA364405075 | MMUT | c.288T>G (p.Tyr96Ter)
| |
6 | g.49459179A>G | CA450609554 | MMUT | c.288T>C (p.Tyr96=)
| |
6 | g.49459179A>T | CA364405074 | MMUT | c.288T>A (p.Tyr96Ter)
| |
6 | g.49459180T>A | CA364405076 | MMUT | c.287A>T (p.Tyr96Phe)
| |
6 | g.49459180T>C | CA364405077 | MMUT | c.287A>G (p.Tyr96Cys)
| |
6 | g.49459180T>G | CA364405078 | MMUT | c.287A>C (p.Tyr96Ser)
| |
6 | g.49459181A>C | CA364405079 | MMUT | c.286T>G (p.Tyr96Asp)
| |
6 | g.49459181A>G | CA364405080 | MMUT | c.286T>C (p.Tyr96His)
| COSMIC |
6 | g.49459181A>T | CA364405081 | MMUT | c.286T>A (p.Tyr96Asn)
| |
6 | g.49459182T>A | CA450609556 | MMUT | c.285A>T (p.Pro95=)
| |
6 | g.49459182T>C | CA3847143 | MMUT | c.285A>G (p.Pro95=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459182T>G | CA450609557 | MMUT | c.285A>C (p.Pro95=)
| |
6 | g.49459182T= | CA1627396697 | MMUT | c.285A= (p.Pro95=)
| |
6 | g.49459183G>A | CA3847144 | MMUT | c.284C>T (p.Pro95Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459183G>C | CA347886 | MMUT | c.284C>G (p.Pro95Arg)
| ClinVar dbSNP |
6 | g.49459183G= | CA1627396707 | MMUT | c.284C= (p.Pro95=)
| |
6 | g.49459183G>T | CA364405082 | MMUT | c.284C>A (p.Pro95Gln)
| |
6 | g.49459184G>A | CA364405083 | MMUT | c.283C>T (p.Pro95Ser)
| |
6 | g.49459184G>C | CA364405084 | MMUT | c.283C>G (p.Pro95Ala)
| gnomAD v4 |
6 | g.49459184G>T | CA364405085 | MMUT | c.283C>A (p.Pro95Thr)
| |
6 | g.49459185T>A | CA450609560 | MMUT | c.282A>T (p.Gly94=)
| |
6 | g.49459185T>C | CA450609564 | MMUT | c.282A>G (p.Gly94=)
| gnomAD v4 |
6 | g.49459185T>G | CA450609567 | MMUT | c.282A>C (p.Gly94=)
| |