Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.149569566_149569599del | CA2661421918 | gnomAD v4 | ||
2 | g.149569598A= | CA1297264107 | |||
2 | g.149569598A>G | CA58332318 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
2 | g.149569600T>C | CA1297264109 | dbSNP gnomAD v4 | ||
2 | g.149569600T= | CA1297264108 | |||
2 | g.149569601G>T | CA2661421932 | gnomAD v4 | ||
2 | g.149569602G>A | CA58332319 | dbSNP gnomAD v3 gnomAD v4 | ||
2 | g.149569602G= | CA1297264110 | |||
2 | g.149569602G>T | CA1037732188 | dbSNP gnomAD v3 gnomAD v4 | ||
2 | g.149569603_149569604delinsTA | CA1297264111 | |||
2 | g.149569604_149569617del | CA2661421933 | gnomAD v4 | ||
2 | g.149569604del | CA58332320 | dbSNP gnomAD v3 gnomAD v4 | ||
2 | g.149569604A= | CA1297264112 | |||
2 | g.149569606_149569607dup | CA1297264113 | dbSNP | ||
2 | g.149569607T= | CA1297264114 | |||
2 | g.149569608A= | CA1297264115 | |||
2 | g.149569608A>T | CA758702888 | dbSNP gnomAD v4 | ||
2 | g.149569613dup | CA58332321 | dbSNP gnomAD v3 gnomAD v4 | ||
2 | g.149569613del | CA2661421934 | gnomAD v4 | ||
2 | g.149569613A= | CA1297264116 | |||
2 | g.149569613A>C | CA58332322 | dbSNP gnomAD v4 | ||
2 | g.149569614T>G | CA2661421935 | gnomAD v4 | ||
2 | g.149569615A= | CA1297264117 | |||
2 | g.149569615A>C | CA1037732193 | dbSNP gnomAD v3 gnomAD v4 | ||
2 | g.149569616C>A | CA2661421936 | gnomAD v4 | ||
2 | g.149569617T>C | CA758702891 | dbSNP gnomAD v3 gnomAD v4 | ||
2 | g.149569617T= | CA1297264118 | |||
2 | g.149569618G>A | CA1297264120 | dbSNP | ||
2 | g.149569618G= | CA1297264119 | |||
2 | g.149569619T>C | CA58332323 | dbSNP gnomAD v3 gnomAD v4 | ||
2 | g.149569619T= | CA1297264121 | |||
2 | g.149569621A>T | CA2700779666 | dbSNP | ||
2 | g.149569622T>C | CA58332324 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
2 | g.149569622T= | CA1297264122 | |||
2 | g.149569623G>C | CA1297264123 | dbSNP gnomAD v4 | ||
2 | g.149569623G= | CA1297264125 | |||
2 | g.149569623G>T | CA2661421937 | gnomAD v4 | ||
2 | g.149569623_149569624delinsGA | CA1297264124 | |||
2 | g.149569627del | CA1037732200 | dbSNP gnomAD v3 gnomAD v4 | ||
2 | g.149569626_149569632delinsAACACAC | CA1297264126 | |||
2 | g.149569627A= | CA1297264127 | |||
2 | g.149569627A>G | CA758702960 | dbSNP gnomAD v4 | ||
2 | g.149569628_149569633del | CA758702957 | dbSNP | ||
2 | g.149569628C>T | CA2661421938 | gnomAD v4 | ||
2 | g.149569630C>A | CA2661421939 | gnomAD v4 | ||
2 | g.149569630C= | CA1297264128 | |||
2 | g.149569630C>T | CA1297264129 | dbSNP | ||
2 | g.149569632C= | CA1297264130 | |||
2 | g.149569632C>T | CA1297264131 | dbSNP gnomAD v3 gnomAD v4 | ||
2 | g.149569636A>G | CA2661421940 | MMADHC | c.*338T>C (n.*338T>C) | gnomAD v4 |
2 | g.149569637T>A | CA1037732204 | MMADHC | c.*337A>T (n.*337A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149569637T>C | CA429405717 | MMADHC | c.*337A>G (n.*337A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149569637T= | CA1297264132 | MMADHC | c.*337A= (n.*337A=) | |
2 | g.149569639G>T | CA647537449 | MMADHC | c.*335C>A (n.*335C>A) | gnomAD v4 COSMIC |
2 | g.149569642A= | CA1297264133 | MMADHC | c.*332T= (n.*332T=) | |
2 | g.149569642A>G | CA1297264134 | MMADHC | c.*332T>C (n.*332T>C) | dbSNP gnomAD v4 |
2 | g.149569643C>A | CA2661421941 | MMADHC | c.*331G>T (n.*331G>T) | gnomAD v4 |
2 | g.149569644C>A | CA2661421942 | MMADHC | c.*330G>T (n.*330G>T) | gnomAD v4 |
2 | g.149569644C= | CA1297264135 | MMADHC | c.*330G= (n.*330G=) | |
2 | g.149569644C>G | CA1297264136 | MMADHC | c.*330G>C (n.*330G>C) | dbSNP gnomAD v4 |
2 | g.149569647_149569649delinsATG | CA1297264137 | MMADHC | c.*325_*327delinsCAT (n.*325_*327delinsCAT) | |
2 | g.149569648T>C | CA2661421943 | MMADHC | c.*326A>G (n.*326A>G) | gnomAD v4 |
2 | g.149569652_149569653del | CA536935045 | MMADHC | c.*325_*326del (n.*325_*326del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149569649G>A | CA58332325 | MMADHC | c.*325C>T (n.*325C>T) | dbSNP gnomAD v4 |
2 | g.149569649G= | CA1297264138 | MMADHC | c.*325C= (n.*325C=) | |
2 | g.149569649G>T | CA2661421944 | MMADHC | c.*325C>A (n.*325C>A) | gnomAD v4 |
2 | g.149569651G>A | CA58332326 | MMADHC | c.*323C>T (n.*323C>T) | dbSNP |
2 | g.149569651G= | CA1297264139 | MMADHC | c.*323C= (n.*323C=) | |
2 | g.149569652T>C | CA758702969 | MMADHC | c.*322A>G (n.*322A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149569652T= | CA1297264140 | MMADHC | c.*322A= (n.*322A=) | |
2 | g.149569653_149569656dup | CA758702976 | MMADHC | c.*319_*322dup (n.*319_*322dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149569653_149569656del | CA2661421945 | MMADHC | c.*319_*322del (n.*319_*322del) | gnomAD v4 |
2 | g.149569653_149569657delinsGATTT | CA1297264141 | MMADHC | c.*317_*321delinsAAATC (n.*317_*321delinsAAATC) | |
2 | g.149569658_149569661del | CA58332327 | MMADHC | c.*317_*320del (n.*317_*320del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149569659T>C | CA2661421946 | MMADHC | c.*315A>G (n.*315A>G) | gnomAD v4 |
2 | g.149569659T>G | CA758702982 | MMADHC | c.*315A>C (n.*315A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149569659T= | CA1297264142 | MMADHC | c.*315A= (n.*315A=) | |
2 | g.149569660T>G | CA2661421947 | MMADHC | c.*314A>C (n.*314A>C) | gnomAD v4 |
2 | g.149569663G>A | CA2661421948 | MMADHC | c.*311C>T (n.*311C>T) | gnomAD v4 |
2 | g.149569663G>T | CA2537037543 | MMADHC | c.*311C>A (n.*311C>A) | gnomAD v4 |
2 | g.149569664G>T | CA2661421949 | MMADHC | c.*310C>A (n.*310C>A) | gnomAD v4 |
2 | g.149569665G>T | CA2661421950 | MMADHC | c.*309C>A (n.*309C>A) | gnomAD v4 |
2 | g.149569666A>G | CA2661421951 | MMADHC | c.*308T>C (n.*308T>C) | gnomAD v4 |
2 | g.149569667A>G | CA2752638728 | MMADHC | c.*307T>C (n.*307T>C) | |
2 | g.149569668G>A | CA2661421952 | MMADHC | c.*306C>T (n.*306C>T) | gnomAD v4 |
2 | g.149569669A= | CA1297264143 | MMADHC | c.*305T= (n.*305T=) | |
2 | g.149569669A>C | CA2661421953 | MMADHC | c.*305T>G (n.*305T>G) | gnomAD v4 |
2 | g.149569672_149569675dup | CA1297264144 | MMADHC | c.*301_*304dup (n.*301_*304dup) | dbSNP |
2 | g.149569671A= | CA1297264145 | MMADHC | c.*303T= (n.*303T=) | |
2 | g.149569671A>T | CA1297264146 | MMADHC | c.*303T>A (n.*303T>A) | dbSNP |
2 | g.149569674_149569676dup | CA2661421954 | MMADHC | c.*301_*303dup (n.*301_*303dup) | gnomAD v4 |
2 | g.149569672A= | CA1297264147 | MMADHC | c.*302T= (n.*302T=) | |
2 | g.149569676_149569679dup | CA1297264148 | MMADHC | c.*298_*301dup (n.*298_*301dup) | dbSNP gnomAD v4 |
2 | g.149569674A>C | CA2661421956 | MMADHC | c.*300T>G (n.*300T>G) | gnomAD v4 |
2 | g.149569674A>G | CA2661421955 | MMADHC | c.*300T>C (n.*300T>C) | gnomAD v4 |
2 | g.149569678A= | CA1297264149 | MMADHC | c.*296T= (n.*296T=) | |
2 | g.149569678A>C | CA1297264150 | MMADHC | c.*296T>G (n.*296T>G) | dbSNP |
2 | g.149569679A>G | CA2661421957 | MMADHC | c.*295T>C (n.*295T>C) | gnomAD v4 |
2 | g.149569682C>A | CA2661421958 | MMADHC | c.*292G>T (n.*292G>T) | gnomAD v4 |
2 | g.149569683T>C | CA2661421959 | MMADHC | c.*291A>G (n.*291A>G) | gnomAD v4 |
2 | g.149569684G>A | CA2661421960 | MMADHC | c.*290C>T (n.*290C>T) | gnomAD v4 |
2 | g.149569685A= | CA1297264151 | MMADHC | c.*289T= (n.*289T=) | |
2 | g.149569685A>G | CA58332328 | MMADHC | c.*289T>C (n.*289T>C) | dbSNP gnomAD v4 |
2 | g.149569686G>A | CA2505164391 | MMADHC | c.*288C>T (n.*288C>T) | |
2 | g.149569686G>T | CA2752638731 | MMADHC | c.*288C>A (n.*288C>A) | |
2 | g.149569687G>C | CA2661421961 | MMADHC | c.*287C>G (n.*287C>G) | gnomAD v4 |
2 | g.149569687G>T | CA2661421962 | MMADHC | c.*287C>A (n.*287C>A) | gnomAD v4 |
2 | g.149569688C>A | CA2661421963 | MMADHC | c.*286G>T (n.*286G>T) | gnomAD v4 |
2 | g.149569688C= | CA1297264152 | MMADHC | c.*286G= (n.*286G=) | |
2 | g.149569688C>T | CA758702983 | MMADHC | c.*286G>A (n.*286G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149569689C>A | CA2661421964 | MMADHC | c.*285G>T (n.*285G>T) | gnomAD v4 |
2 | g.149569690T>C | CA2661421966 | MMADHC | c.*284A>G (n.*284A>G) | gnomAD v4 |
2 | g.149569694del | CA2661421965 | MMADHC | c.*284del (n.*284del) | gnomAD v4 |
2 | g.149569693T>A | CA1037732211 | MMADHC | c.*281A>T (n.*281A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149569693T= | CA1297264153 | MMADHC | c.*281A= (n.*281A=) | |
2 | g.149569695C>A | CA2661421967 | MMADHC | c.*279G>T (n.*279G>T) | gnomAD v4 |
2 | g.149569695C>T | CA2661421968 | MMADHC | c.*279G>A (n.*279G>A) | gnomAD v4 |
2 | g.149569695_149569706del | CA2752638733 | MMADHC | c.*268_*279del (n.*268_*279del) | |
2 | g.149569696C>A | CA2561001529 | MMADHC | c.*278G>T (n.*278G>T) | gnomAD v4 |
2 | g.149569696C>T | CA2661421969 | MMADHC | c.*278G>A (n.*278G>A) | gnomAD v4 |
2 | g.149569698A= | CA1297264154 | MMADHC | c.*276T= (n.*276T=) | |
2 | g.149569698A>G | CA758702985 | MMADHC | c.*276T>C (n.*276T>C) | dbSNP gnomAD v3 gnomAD v4 |