Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.116617192_116617193del | CA2680117681 | RSPH4A | c.569_570del (p.Tyr190Ter) n.3220_3221del | gnomAD v4 |
6 | g.116617193T>A | CA365394678 | RSPH4A | c.570T>A (p.Tyr190Ter) n.3221T>A | |
6 | g.116617193T>C | CA451619526 | RSPH4A | c.570T>C (p.Tyr190=) n.3221T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.116617193T>G | CA365394682 | RSPH4A | c.570T>G (p.Tyr190Ter) n.3221T>G | gnomAD v4 |
6 | g.116617193T= | CA1657314943 | RSPH4A | c.570T= (p.Tyr190=) n.3221T= | |
6 | g.116617194G>A | CA365394696 | RSPH4A | c.571G>A (p.Asp191Asn) n.3222G>A | |
6 | g.116617194G>C | CA365394698 | RSPH4A | c.571G>C (p.Asp191His) n.3222G>C | |
6 | g.116617194G>T | CA365394700 | RSPH4A | c.571G>T (p.Asp191Tyr) n.3222G>T | |
6 | g.116617195A>C | CA365394701 | RSPH4A | c.572A>C (p.Asp191Ala) n.3223A>C | |
6 | g.116617195A>G | CA365394705 | RSPH4A | c.572A>G (p.Asp191Gly) n.3223A>G | |
6 | g.116617195A>T | CA365394708 | RSPH4A | c.572A>T (p.Asp191Val) n.3223A>T | gnomAD v4 |
6 | g.116617196T>A | CA365394722 | RSPH4A | c.573T>A (p.Asp191Glu) n.3224T>A | |
6 | g.116617196T>C | CA451619530 | RSPH4A | c.573T>C (p.Asp191=) n.3224T>C | |
6 | g.116617196T>G | CA365394734 | RSPH4A | c.573T>G (p.Asp191Glu) n.3224T>G | |
6 | g.116617197T>A | CA3970788 | RSPH4A | c.574T>A (p.Leu192Ile) n.3225T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617197T>C | CA451619531 | RSPH4A | c.574T>C (p.Leu192=) n.3225T>C | |
6 | g.116617197T>G | CA365394742 | RSPH4A | c.574T>G (p.Leu192Val) n.3225T>G | |
6 | g.116617197T= | CA1657314944 | RSPH4A | c.574T= (p.Leu192=) n.3225T= | |
6 | g.116617198T>A | CA365394755 | RSPH4A | c.575T>A (p.Leu192Ter) n.3226T>A | |
6 | g.116617198T>C | CA365394761 | RSPH4A | c.575T>C (p.Leu192Ser) n.3226T>C | |
6 | g.116617198T>G | CA365394777 | RSPH4A | c.575T>G (p.Leu192Ter) n.3226T>G | |
6 | g.116617199A= | CA1657314945 | RSPH4A | c.576A= (p.Leu192=) n.3227A= | |
6 | g.116617199A>C | CA365394785 | RSPH4A | c.576A>C (p.Leu192Phe) n.3227A>C | |
6 | g.116617199A>G | CA451619533 | RSPH4A | c.576A>G (p.Leu192=) n.3227A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116617199A>T | CA365394787 | RSPH4A | c.576A>T (p.Leu192Phe) n.3227A>T | gnomAD v4 |
6 | g.116617200C>A | CA365394789 | RSPH4A | c.577C>A (p.Gln193Lys) n.3228C>A | |
6 | g.116617200C>G | CA365394795 | RSPH4A | c.577C>G (p.Gln193Glu) n.3228C>G | |
6 | g.116617200C>T | CA365394794 | RSPH4A | c.577C>T (p.Gln193Ter) n.3228C>T | |
6 | g.116617201A= | CA1657314946 | RSPH4A | c.578A= (p.Gln193=) n.3229A= | |
6 | g.116617201A>C | CA365394797 | RSPH4A | c.578A>C (p.Gln193Pro) n.3229A>C | |
6 | g.116617201A>G | CA365394807 | RSPH4A | c.578A>G (p.Gln193Arg) n.3229A>G | dbSNP |
6 | g.116617201A>T | CA365394809 | RSPH4A | c.578A>T (p.Gln193Leu) n.3229A>T | |
6 | g.116617202G>A | CA451619538 | RSPH4A | c.579G>A (p.Gln193=) n.3230G>A | gnomAD v4 |
6 | g.116617202G>C | CA365394813 | RSPH4A | c.579G>C (p.Gln193His) n.3230G>C | |
6 | g.116617202G>T | CA365394814 | RSPH4A | c.579G>T (p.Gln193His) n.3230G>T | |
6 | g.116617203C>A | CA365394821 | RSPH4A | c.580C>A (p.Gln194Lys) n.3231C>A | |
6 | g.116617203C>G | CA365394822 | RSPH4A | c.580C>G (p.Gln194Glu) n.3231C>G | |
6 | g.116617203C>T | CA365394838 | RSPH4A | c.580C>T (p.Gln194Ter) n.3231C>T | |
6 | g.116617204A>C | CA365394840 | RSPH4A | c.581A>C (p.Gln194Pro) n.3232A>C | |
6 | g.116617204A>G | CA365394842 | RSPH4A | c.581A>G (p.Gln194Arg) n.3232A>G | |
6 | g.116617204A>T | CA365394850 | RSPH4A | c.581A>T (p.Gln194Leu) n.3232A>T | |
6 | g.116617205G>A | CA451619540 | RSPH4A | c.582G>A (p.Gln194=) n.3233G>A | |
6 | g.116617205G>C | CA365394855 | RSPH4A | c.582G>C (p.Gln194His) n.3233G>C | |
6 | g.116617205G>T | CA365394859 | RSPH4A | c.582G>T (p.Gln194His) n.3233G>T | |
6 | g.116617206C>A | CA365394872 | RSPH4A | c.583C>A (p.Pro195Thr) n.3234C>A | |
6 | g.116617206C>G | CA365394866 | RSPH4A | c.583C>G (p.Pro195Ala) n.3234C>G | |
6 | g.116617206C>T | CA365394868 | RSPH4A | c.583C>T (p.Pro195Ser) n.3234C>T | |
6 | g.116617207C>A | CA365394881 | RSPH4A | c.584C>A (p.Pro195Gln) n.3235C>A | |
6 | g.116617207C= | CA1657314947 | RSPH4A | c.584C= (p.Pro195=) n.3235C= | |
6 | g.116617207C>G | CA177722 | RSPH4A | c.584C>G (p.Pro195Arg) n.3235C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617207C>T | CA3970789 | RSPH4A | c.584C>T (p.Pro195Leu) n.3235C>T | dbSNP ExAC gnomAD v2 |
6 | g.116617208G>A | CA451619542 | RSPH4A | c.585G>A (p.Pro195=) n.3236G>A | dbSNP gnomAD v4 |
6 | g.116617208G>C | CA451619543 | RSPH4A | c.585G>C (p.Pro195=) n.3236G>C | |
6 | g.116617208G= | CA1657314948 | RSPH4A | c.585G= (p.Pro195=) n.3236G= | |
6 | g.116617208G>T | CA451619544 | RSPH4A | c.585G>T (p.Pro195=) n.3236G>T | ClinVar |
6 | g.116617209G>A | CA365394896 | RSPH4A | c.586G>A (p.Ala196Thr) n.3237G>A | ClinVar dbSNP gnomAD v4 |
6 | g.116617209G>C | CA365394901 | RSPH4A | c.586G>C (p.Ala196Pro) n.3237G>C | |
6 | g.116617209G= | CA1657314949 | RSPH4A | c.586G= (p.Ala196=) n.3237G= | |
6 | g.116617209G>T | CA365394917 | RSPH4A | c.586G>T (p.Ala196Ser) n.3237G>T | |
6 | g.116617210C>A | CA365394920 | RSPH4A | c.587C>A (p.Ala196Glu) n.3238C>A | |
6 | g.116617210C= | CA1657314951 | RSPH4A | c.587C= (p.Ala196=) n.3238C= | |
6 | g.116617210C>G | CA365394921 | RSPH4A | c.587C>G (p.Ala196Gly) n.3238C>G | |
6 | g.116617210C>T | CA3970790 | RSPH4A | c.587C>T (p.Ala196Val) n.3238C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617211G>A | CA451619545 | RSPH4A | c.588G>A (p.Ala196=) n.3239G>A | |
6 | g.116617211G>C | CA451619546 | RSPH4A | c.588G>C (p.Ala196=) n.3239G>C | gnomAD v4 |
6 | g.116617211G= | CA1657314954 | RSPH4A | c.588G= (p.Ala196=) n.3239G= | |
6 | g.116617211G>T | CA451619548 | RSPH4A | c.588G>T (p.Ala196=) n.3239G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116617212C>A | CA365394929 | RSPH4A | c.589C>A (p.Pro197Thr) n.3240C>A | |
6 | g.116617212C>G | CA365394930 | RSPH4A | c.589C>G (p.Pro197Ala) n.3240C>G | |
6 | g.116617212C>T | CA365394931 | RSPH4A | c.589C>T (p.Pro197Ser) n.3240C>T | |
6 | g.116617213C>A | CA365394936 | RSPH4A | c.590C>A (p.Pro197His) n.3241C>A | |
6 | g.116617213C>G | CA365394948 | RSPH4A | c.590C>G (p.Pro197Arg) n.3241C>G | |
6 | g.116617213C>T | CA365394942 | RSPH4A | c.590C>T (p.Pro197Leu) n.3241C>T | |
6 | g.116617214T>A | CA451619549 | RSPH4A | c.591T>A (p.Pro197=) n.3242T>A | |
6 | g.116617214T>C | CA451619550 | RSPH4A | c.591T>C (p.Pro197=) n.3242T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617214T>G | CA451619553 | RSPH4A | c.591T>G (p.Pro197=) n.3242T>G | |
6 | g.116617214T= | CA1657314957 | RSPH4A | c.591T= (p.Pro197=) n.3242T= | |
6 | g.116617215G>A | CA365394951 | RSPH4A | c.592G>A (p.Gly198Arg) n.3243G>A | |
6 | g.116617215G>C | CA365394955 | RSPH4A | c.592G>C (p.Gly198Arg) n.3243G>C | dbSNP |
6 | g.116617215G= | CA1657314959 | RSPH4A | c.592G= (p.Gly198=) n.3243G= | |
6 | g.116617215G>T | CA365394959 | RSPH4A | c.592G>T (p.Gly198Trp) n.3243G>T | |
6 | g.116617219dup | CA2772741006 | RSPH4A | c.596dup (p.Ser200LeufsTer2) n.3247dup | |
6 | g.116617219del | CA2578721813 | RSPH4A | c.596del (p.Gly199AlafsTer21) n.3247del | gnomAD v4 |
6 | g.116617216G>A | CA3970791 | RSPH4A | c.593G>A (p.Gly198Glu) n.3244G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116617216G>C | CA365394960 | RSPH4A | c.593G>C (p.Gly198Ala) n.3244G>C | |
6 | g.116617216G= | CA1657314963 | RSPH4A | c.593G= (p.Gly198=) n.3244G= | |
6 | g.116617216G>T | CA365394961 | RSPH4A | c.593G>T (p.Gly198Val) n.3244G>T | |
6 | g.116617217G>A | CA451619555 | RSPH4A | c.594G>A (p.Gly198=) n.3245G>A | dbSNP |
6 | g.116617217G>C | CA451619556 | RSPH4A | c.594G>C (p.Gly198=) n.3245G>C | |
6 | g.116617217G= | CA1657314966 | RSPH4A | c.594G= (p.Gly198=) n.3245G= | |
6 | g.116617217G>T | CA451619557 | RSPH4A | c.594G>T (p.Gly198=) n.3245G>T | gnomAD v4 |
6 | g.116617218G>A | CA365394962 | RSPH4A | c.595G>A (p.Gly199Ser) n.3246G>A | |
6 | g.116617218G>C | CA365394968 | RSPH4A | c.595G>C (p.Gly199Arg) n.3246G>C | |
6 | g.116617218G= | CA1657314968 | RSPH4A | c.595G= (p.Gly199=) n.3246G= | |
6 | g.116617218G>T | CA365394970 | RSPH4A | c.595G>T (p.Gly199Cys) n.3246G>T | dbSNP gnomAD v4 |
6 | g.116617219G>A | CA365394973 | RSPH4A | c.596G>A (p.Gly199Asp) n.3247G>A | |
6 | g.116617219G>C | CA365394975 | RSPH4A | c.596G>C (p.Gly199Ala) n.3247G>C | |
6 | g.116617219G= | CA1657314970 | RSPH4A | c.596G= (p.Gly199=) n.3247G= | |
6 | g.116617219G>T | CA3970792 | RSPH4A | c.596G>T (p.Gly199Val) n.3247G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617220C>A | CA451619559 | RSPH4A | c.597C>A (p.Gly199=) n.3248C>A | |
6 | g.116617220C>G | CA451619561 | RSPH4A | c.597C>G (p.Gly199=) n.3248C>G | |
6 | g.116617220C>T | CA451619562 | RSPH4A | c.597C>T (p.Gly199=) n.3248C>T | |
6 | g.116617221T>A | CA365394998 | RSPH4A | c.598T>A (p.Ser200Thr) n.3249T>A | |
6 | g.116617221T>C | CA365394984 | RSPH4A | c.598T>C (p.Ser200Pro) n.3249T>C | |
6 | g.116617221T>G | CA365394996 | RSPH4A | c.598T>G (p.Ser200Ala) n.3249T>G | |
6 | g.116617222C>A | CA365395004 | RSPH4A | c.599C>A (p.Ser200Tyr) n.3250C>A | |
6 | g.116617222C>G | CA365395008 | RSPH4A | c.599C>G (p.Ser200Cys) n.3250C>G | |
6 | g.116617222C>T | CA365395012 | RSPH4A | c.599C>T (p.Ser200Phe) n.3250C>T | |
6 | g.116617223T>A | CA451619564 | RSPH4A | c.600T>A (p.Ser200=) n.3251T>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116617223T>C | CA451619565 | RSPH4A | c.600T>C (p.Ser200=) n.3251T>C | gnomAD v4 |
6 | g.116617223T>G | CA451619566 | RSPH4A | c.600T>G (p.Ser200=) n.3251T>G | dbSNP |
6 | g.116617223T= | CA1657314973 | RSPH4A | c.600T= (p.Ser200=) n.3251T= | |
6 | g.116617224G>A | CA365395026 | RSPH4A | c.601G>A (p.Glu201Lys) n.3252G>A | |
6 | g.116617224G>C | CA365395033 | RSPH4A | c.601G>C (p.Glu201Gln) n.3252G>C | |
6 | g.116617224G>T | CA365395037 | RSPH4A | c.601G>T (p.Glu201Ter) n.3252G>T | |
6 | g.116617225A>C | CA365395045 | RSPH4A | c.602A>C (p.Glu201Ala) n.3253A>C | |
6 | g.116617225A>G | CA365395055 | RSPH4A | c.602A>G (p.Glu201Gly) n.3253A>G | |
6 | g.116617225A>T | CA365395056 | RSPH4A | c.602A>T (p.Glu201Val) n.3253A>T | |
6 | g.116617226A>C | CA365395060 | RSPH4A | c.603A>C (p.Glu201Asp) n.3254A>C | |
6 | g.116617226A>G | CA451619568 | RSPH4A | c.603A>G (p.Glu201=) n.3254A>G | |
6 | g.116617226A>T | CA365395080 | RSPH4A | c.603A>T (p.Glu201Asp) n.3254A>T | |
6 | g.116617227G>A | CA365395086 | RSPH4A | c.604G>A (p.Val202Met) n.3255G>A | |
6 | g.116617227G>C | CA365395087 | RSPH4A | c.604G>C (p.Val202Leu) n.3255G>C | |
6 | g.116617227G>T | CA365395085 | RSPH4A | c.604G>T (p.Val202Leu) n.3255G>T | |
6 | g.116617228T>A | CA365395088 | RSPH4A | c.605T>A (p.Val202Glu) n.3256T>A | |
6 | g.116617228T>C | CA365395092 | RSPH4A | c.605T>C (p.Val202Ala) n.3256T>C | |
6 | g.116617228T>G | CA365395094 | RSPH4A | c.605T>G (p.Val202Gly) n.3256T>G | |
6 | g.116617228_116617229delinsTG | CA1657314975 | RSPH4A | c.605_606delinsTG (p.Val202=) n.3256_3257delinsTG | |
6 | g.116617229G>A | CA451619570 | RSPH4A | c.606G>A (p.Val202=) n.3257G>A | gnomAD v4 |
6 | g.116617229G>C | CA3970793 | RSPH4A | c.606G>C (p.Val202=) n.3257G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116617229G= | CA1657314976 | RSPH4A | c.606G= (p.Val202=) n.3257G= | |
6 | g.116617229G>T | CA451619571 | RSPH4A | c.606G>T (p.Val202=) n.3257G>T | |
6 | g.116617230del | CA569689598 | RSPH4A | c.607del (p.Ala203ProfsTer17) n.3258del | dbSNP gnomAD v2 |
6 | g.116617230G>A | CA365395105 | RSPH4A | c.607G>A (p.Ala203Thr) n.3258G>A | |
6 | g.116617230G>C | CA365395107 | RSPH4A | c.607G>C (p.Ala203Pro) n.3258G>C | |
6 | g.116617230G>T | CA365395110 | RSPH4A | c.607G>T (p.Ala203Ser) n.3258G>T | |
6 | g.116617231C>A | CA365395117 | RSPH4A | c.608C>A (p.Ala203Asp) n.3259C>A | gnomAD v4 |
6 | g.116617231C>G | CA365395120 | RSPH4A | c.608C>G (p.Ala203Gly) n.3259C>G | |
6 | g.116617231C>T | CA365395126 | RSPH4A | c.608C>T (p.Ala203Val) n.3259C>T | |
6 | g.116617235dup | CA2713050351 | RSPH4A | c.612dup (p.Ser205GlnfsTer4) n.3263dup | dbSNP |
6 | g.116617235del | CA2578721814 | RSPH4A | c.612del (p.Ser205AlafsTer15) n.3263del | |
6 | g.116617232C>A | CA451619573 | RSPH4A | c.609C>A (p.Ala203=) n.3260C>A | |
6 | g.116617232C= | CA1657314977 | RSPH4A | c.609C= (p.Ala203=) n.3260C= | |
6 | g.116617232C>G | CA451619574 | RSPH4A | c.609C>G (p.Ala203=) n.3260C>G | gnomAD v4 |
6 | g.116617232C>T | CA451619575 | RSPH4A | c.609C>T (p.Ala203=) n.3260C>T | dbSNP |
6 | g.116617233C>A | CA3970794 | RSPH4A | c.610C>A (p.Pro204Thr) n.3261C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116617233C= | CA1657314979 | RSPH4A | c.610C= (p.Pro204=) n.3261C= | |
6 | g.116617233C>G | CA365395135 | RSPH4A | c.610C>G (p.Pro204Ala) n.3261C>G | |
6 | g.116617233C>T | CA365395138 | RSPH4A | c.610C>T (p.Pro204Ser) n.3261C>T | |
6 | g.116617234C>A | CA365395157 | RSPH4A | c.611C>A (p.Pro204His) n.3262C>A | |
6 | g.116617234C= | CA1657314980 | RSPH4A | c.611C= (p.Pro204=) n.3262C= | |
6 | g.116617234C>G | CA365395150 | RSPH4A | c.611C>G (p.Pro204Arg) n.3262C>G | dbSNP |
6 | g.116617234C>T | CA365395143 | RSPH4A | c.611C>T (p.Pro204Leu) n.3262C>T | |
6 | g.116617235C>A | CA451619577 | RSPH4A | c.612C>A (p.Pro204=) n.3263C>A | |
6 | g.116617235C= | CA1657314981 | RSPH4A | c.612C= (p.Pro204=) n.3263C= | |
6 | g.116617235C>G | CA451619578 | RSPH4A | c.612C>G (p.Pro204=) n.3263C>G | |
6 | g.116617235C>T | CA451619579 | RSPH4A | c.612C>T (p.Pro204=) n.3263C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116617236A= | CA1657314982 | RSPH4A | c.613A= (p.Ser205=) n.3264A= | |
6 | g.116617236A>C | CA365395162 | RSPH4A | c.613A>C (p.Ser205Arg) n.3264A>C | dbSNP |
6 | g.116617236A>G | CA365395163 | RSPH4A | c.613A>G (p.Ser205Gly) n.3264A>G | ClinVar gnomAD v4 |
6 | g.116617236A>T | CA365395164 | RSPH4A | c.613A>T (p.Ser205Cys) n.3264A>T | |
6 | g.116617237G>A | CA365395168 | RSPH4A | c.614G>A (p.Ser205Asn) n.3265G>A | COSMIC |
6 | g.116617237G>C | CA365395169 | RSPH4A | c.614G>C (p.Ser205Thr) n.3265G>C | |
6 | g.116617237G>T | CA365395174 | RSPH4A | c.614G>T (p.Ser205Ile) n.3265G>T | |
6 | g.116617238del | CA2680117682 | RSPH4A | c.615del (p.Ser205ArgfsTer15) n.3266del | gnomAD v4 |
6 | g.116617238C>A | CA365395178 | RSPH4A | c.615C>A (p.Ser205Arg) n.3266C>A | |
6 | g.116617238C>G | CA365395184 | RSPH4A | c.615C>G (p.Ser205Arg) n.3266C>G | |
6 | g.116617238C>T | CA451619582 | RSPH4A | c.615C>T (p.Ser205=) n.3266C>T | |
6 | g.116617239A= | CA1657314983 | RSPH4A | c.616A= (p.Met206=) n.3267A= | |
6 | g.116617239A>C | CA365395205 | RSPH4A | c.616A>C (p.Met206Leu) n.3267A>C | |
6 | g.116617239A>G | CA365395210 | RSPH4A | c.616A>G (p.Met206Val) n.3267A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617239A>T | CA365395212 | RSPH4A | c.616A>T (p.Met206Leu) n.3267A>T | |
6 | g.116617240T>A | CA365395219 | RSPH4A | c.617T>A (p.Met206Lys) n.3268T>A | |
6 | g.116617240T>C | CA365395239 | RSPH4A | c.617T>C (p.Met206Thr) n.3268T>C | |
6 | g.116617240T>G | CA365395243 | RSPH4A | c.617T>G (p.Met206Arg) n.3268T>G | |
6 | g.116617241G>A | CA365395265 | RSPH4A | c.618G>A (p.Met206Ile) n.3269G>A | |
6 | g.116617241G>C | CA365395270 | RSPH4A | c.618G>C (p.Met206Ile) n.3269G>C | |
6 | g.116617241G>T | CA365395255 | RSPH4A | c.618G>T (p.Met206Ile) n.3269G>T | |
6 | g.116617242C>A | CA365395275 | RSPH4A | c.619C>A (p.Leu207Ile) n.3270C>A | |
6 | g.116617242C= | CA1657314985 | RSPH4A | c.619C= (p.Leu207=) n.3270C= | |
6 | g.116617242C>G | CA365395279 | RSPH4A | c.619C>G (p.Leu207Val) n.3270C>G | |
6 | g.116617242C>T | CA3970795 | RSPH4A | c.619C>T (p.Leu207Phe) n.3270C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617243T>A | CA365395291 | RSPH4A | c.620T>A (p.Leu207His) n.3271T>A | |
6 | g.116617243T>C | CA365395296 | RSPH4A | c.620T>C (p.Leu207Pro) n.3271T>C | gnomAD v4 |
6 | g.116617243T>G | CA365395305 | RSPH4A | c.620T>G (p.Leu207Arg) n.3271T>G | |
6 | g.116617244T>A | CA451619584 | RSPH4A | c.621T>A (p.Leu207=) n.3272T>A | |
6 | g.116617244T>C | CA451619585 | RSPH4A | c.621T>C (p.Leu207=) n.3272T>C | |
6 | g.116617244T>G | CA451619586 | RSPH4A | c.621T>G (p.Leu207=) n.3272T>G | gnomAD v4 |
6 | g.116617245G>A | CA365395320 | RSPH4A | c.622G>A (p.Glu208Lys) n.3273G>A | |
6 | g.116617245G>C | CA365395316 | RSPH4A | c.622G>C (p.Glu208Gln) n.3273G>C | |
6 | g.116617245G>T | CA365395318 | RSPH4A | c.622G>T (p.Glu208Ter) n.3273G>T | |
6 | g.116617246A>C | CA365395333 | RSPH4A | c.623A>C (p.Glu208Ala) n.3274A>C | |
6 | g.116617246A>G | CA365395334 | RSPH4A | c.623A>G (p.Glu208Gly) n.3274A>G | |
6 | g.116617246A>T | CA365395335 | RSPH4A | c.623A>T (p.Glu208Val) n.3274A>T | |
6 | g.116617247G>A | CA451619588 | RSPH4A | c.624G>A (p.Glu208=) n.3275G>A | |
6 | g.116617247G>C | CA365395338 | RSPH4A | c.624G>C (p.Glu208Asp) n.3275G>C | |
6 | g.116617247G>T | CA365395342 | RSPH4A | c.624G>T (p.Glu208Asp) n.3275G>T | |
6 | g.116617248A= | CA1657314987 | RSPH4A | c.625A= (p.Ile209=) n.3276A= | |
6 | g.116617248A>C | CA365395353 | RSPH4A | c.625A>C (p.Ile209Leu) n.3276A>C | |
6 | g.116617248A>G | CA365395362 | RSPH4A | c.625A>G (p.Ile209Val) n.3276A>G | |
6 | g.116617248A>T | CA3970796 | RSPH4A | c.625A>T (p.Ile209Phe) n.3276A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617249T>A | CA365395368 | RSPH4A | c.626T>A (p.Ile209Asn) n.3277T>A | gnomAD v4 |
6 | g.116617249T>C | CA365395376 | RSPH4A | c.626T>C (p.Ile209Thr) n.3277T>C | |
6 | g.116617249T>G | CA365395380 | RSPH4A | c.626T>G (p.Ile209Ser) n.3277T>G | |
6 | g.116617250C>A | CA451619594 | RSPH4A | c.627C>A (p.Ile209=) n.3278C>A | |
6 | g.116617250C>G | CA365395385 | RSPH4A | c.627C>G (p.Ile209Met) n.3278C>G | |
6 | g.116617250C>T | CA451619597 | RSPH4A | c.627C>T (p.Ile209=) n.3278C>T | |
6 | g.116617251A= | CA1657314989 | RSPH4A | c.628A= (p.Thr210=) n.3279A= | |
6 | g.116617251A>C | CA365395388 | RSPH4A | c.628A>C (p.Thr210Pro) n.3279A>C | |
6 | g.116617251A>G | CA365395395 | RSPH4A | c.628A>G (p.Thr210Ala) n.3279A>G | dbSNP gnomAD v4 |
6 | g.116617251A>T | CA365395400 | RSPH4A | c.628A>T (p.Thr210Ser) n.3279A>T | |
6 | g.116617252C>A | CA365395408 | RSPH4A | c.629C>A (p.Thr210Asn) n.3280C>A | |
6 | g.116617252C>G | CA365395410 | RSPH4A | c.629C>G (p.Thr210Ser) n.3280C>G | |
6 | g.116617252C>T | CA365395413 | RSPH4A | c.629C>T (p.Thr210Ile) n.3280C>T | |
6 | g.116617253C>A | CA451619602 | RSPH4A | c.630C>A (p.Thr210=) n.3281C>A | |
6 | g.116617253C>G | CA451619600 | RSPH4A | c.630C>G (p.Thr210=) n.3281C>G | |
6 | g.116617253C>T | CA451619599 | RSPH4A | c.630C>T (p.Thr210=) n.3281C>T | |
6 | g.116617254A>C | CA365395419 | RSPH4A | c.631A>C (p.Ile211Leu) n.3282A>C | |
6 | g.116617254A>G | CA365395418 | RSPH4A | c.631A>G (p.Ile211Val) n.3282A>G | gnomAD v4 |
6 | g.116617254A>T | CA365395417 | RSPH4A | c.631A>T (p.Ile211Phe) n.3282A>T | gnomAD v4 |
6 | g.116617255T>A | CA365395421 | RSPH4A | c.632T>A (p.Ile211Asn) n.3283T>A | |
6 | g.116617255T>C | CA365395430 | RSPH4A | c.632T>C (p.Ile211Thr) n.3283T>C | |
6 | g.116617255T>G | CA365395424 | RSPH4A | c.632T>G (p.Ile211Ser) n.3283T>G | |
6 | g.116617256T>A | CA451619604 | RSPH4A | c.633T>A (p.Ile211=) n.3284T>A | |
6 | g.116617256T>C | CA451619605 | RSPH4A | c.633T>C (p.Ile211=) n.3284T>C | |
6 | g.116617256T>G | CA365395436 | RSPH4A | c.633T>G (p.Ile211Met) n.3284T>G | gnomAD v4 |
6 | g.116617257C>A | CA365395441 | RSPH4A | c.634C>A (p.Gln212Lys) n.3285C>A | |
6 | g.116617257C>G | CA365395440 | RSPH4A | c.634C>G (p.Gln212Glu) n.3285C>G | |
6 | g.116617257C>T | CA365395442 | RSPH4A | c.634C>T (p.Gln212Ter) n.3285C>T | |
6 | g.116617258A= | CA1657314992 | RSPH4A | c.635A= (p.Gln212=) n.3286A= | |
6 | g.116617258A>C | CA365395444 | RSPH4A | c.635A>C (p.Gln212Pro) n.3286A>C | |
6 | g.116617258A>G | CA3970797 | RSPH4A | c.635A>G (p.Gln212Arg) n.3286A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116617258A>T | CA365395447 | RSPH4A | c.635A>T (p.Gln212Leu) n.3286A>T | |
6 | g.116617259G>A | CA451619610 | RSPH4A | c.636G>A (p.Gln212=) n.3287G>A | |
6 | g.116617259G>C | CA365395448 | RSPH4A | c.636G>C (p.Gln212His) n.3287G>C | |
6 | g.116617259G>T | CA365395451 | RSPH4A | c.636G>T (p.Gln212His) n.3287G>T | |
6 | g.116617260A>C | CA365395457 | RSPH4A | c.637A>C (p.Asn213His) n.3288A>C | |
6 | g.116617260A>G | CA365395459 | RSPH4A | c.637A>G (p.Asn213Asp) n.3288A>G | |
6 | g.116617260A>T | CA365395462 | RSPH4A | c.637A>T (p.Asn213Tyr) n.3288A>T | |
6 | g.116617261A= | CA1657314996 | RSPH4A | c.638A= (p.Asn213=) n.3289A= | |
6 | g.116617261A>C | CA365395466 | RSPH4A | c.638A>C (p.Asn213Thr) n.3289A>C | |
6 | g.116617261A>G | CA365395478 | RSPH4A | c.638A>G (p.Asn213Ser) n.3289A>G | |
6 | g.116617261A>T | CA145923918 | RSPH4A | c.638A>T (p.Asn213Ile) n.3289A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617262T>A | CA365395483 | RSPH4A | c.639T>A (p.Asn213Lys) n.3290T>A | |
6 | g.116617262T>C | CA145923919 | RSPH4A | c.639T>C (p.Asn213=) n.3290T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116617262T>G | CA365395506 | RSPH4A | c.639T>G (p.Asn213Lys) n.3290T>G | |
6 | g.116617262T= | CA1657315000 | RSPH4A | c.639T= (p.Asn213=) n.3290T= | |
6 | g.116617263G>A | CA365395517 | RSPH4A | c.640G>A (p.Ala214Thr) n.3291G>A | |
6 | g.116617263G>C | CA365395515 | RSPH4A | c.640G>C (p.Ala214Pro) n.3291G>C | |
6 | g.116617263G>T | CA365395510 | RSPH4A | c.640G>T (p.Ala214Ser) n.3291G>T | |
6 | g.116617264C>A | CA365395521 | RSPH4A | c.641C>A (p.Ala214Asp) n.3292C>A | |
6 | g.116617264C>G | CA365395527 | RSPH4A | c.641C>G (p.Ala214Gly) n.3292C>G | |
6 | g.116617264C>T | CA365395529 | RSPH4A | c.641C>T (p.Ala214Val) n.3292C>T | |
6 | g.116617265T>A | CA451619613 | RSPH4A | c.642T>A (p.Ala214=) n.3293T>A | gnomAD v4 |
6 | g.116617265T>C | CA451619614 | RSPH4A | c.642T>C (p.Ala214=) n.3293T>C | |
6 | g.116617265T>G | CA451619615 | RSPH4A | c.642T>G (p.Ala214=) n.3293T>G | |
6 | g.116617266A>C | CA365395532 | RSPH4A | c.643A>C (p.Lys215Gln) n.3294A>C | |
6 | g.116617266A>G | CA365395533 | RSPH4A | c.643A>G (p.Lys215Glu) n.3294A>G | |
6 | g.116617266A>T | CA365395535 | RSPH4A | c.643A>T (p.Lys215Ter) n.3294A>T | |
6 | g.116617267A>C | CA365395539 | RSPH4A | c.644A>C (p.Lys215Thr) n.3295A>C | |
6 | g.116617267A>G | CA365395542 | RSPH4A | c.644A>G (p.Lys215Arg) n.3295A>G | |
6 | g.116617267A>T | CA365395544 | RSPH4A | c.644A>T (p.Lys215Met) n.3295A>T | |
6 | g.116617268G>A | CA451619619 | RSPH4A | c.645G>A (p.Lys215=) n.3296G>A | COSMIC |
6 | g.116617268G>C | CA365395547 | RSPH4A | c.645G>C (p.Lys215Asn) n.3296G>C | |
6 | g.116617268G>T | CA365395551 | RSPH4A | c.645G>T (p.Lys215Asn) n.3296G>T | |
6 | g.116617269G>A | CA365395557 | RSPH4A | c.646G>A (p.Ala216Thr) n.3297G>A | |
6 | g.116617269G>C | CA365395558 | RSPH4A | c.646G>C (p.Ala216Pro) n.3297G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116617269G= | CA1657315004 | RSPH4A | c.646G= (p.Ala216=) n.3297G= | |
6 | g.116617269G>T | CA365395559 | RSPH4A | c.646G>T (p.Ala216Ser) n.3297G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617270C>A | CA365395563 | RSPH4A | c.647C>A (p.Ala216Asp) n.3298C>A | |
6 | g.116617270C>G | CA365395566 | RSPH4A | c.647C>G (p.Ala216Gly) n.3298C>G | |
6 | g.116617270C>T | CA365395561 | RSPH4A | c.647C>T (p.Ala216Val) n.3298C>T | |
6 | g.116617271T>A | CA451619620 | RSPH4A | c.648T>A (p.Ala216=) n.3299T>A | |
6 | g.116617271T>C | CA451619621 | RSPH4A | c.648T>C (p.Ala216=) n.3299T>C | |
6 | g.116617271T>G | CA451619622 | RSPH4A | c.648T>G (p.Ala216=) n.3299T>G | gnomAD v4 |
6 | g.116617272T>A | CA365395571 | RSPH4A | c.649T>A (p.Tyr217Asn) n.3300T>A | |
6 | g.116617272T>C | CA365395576 | RSPH4A | c.649T>C (p.Tyr217His) n.3300T>C | |
6 | g.116617272T>G | CA365395577 | RSPH4A | c.649T>G (p.Tyr217Asp) n.3300T>G | |
6 | g.116617273A= | CA1657315008 | RSPH4A | c.650A= (p.Tyr217=) n.3301A= | |
6 | g.116617273A>C | CA238636 | RSPH4A | c.650A>C (p.Tyr217Ser) n.3301A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617273A>G | CA365395585 | RSPH4A | c.650A>G (p.Tyr217Cys) n.3301A>G | |
6 | g.116617273A>T | CA365395591 | RSPH4A | c.650A>T (p.Tyr217Phe) n.3301A>T | |
6 | g.116617274C>A | CA365395594 | RSPH4A | c.651C>A (p.Tyr217Ter) n.3302C>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116617274C= | CA1657315010 | RSPH4A | c.651C= (p.Tyr217=) n.3302C= | |
6 | g.116617274C>G | CA365395595 | RSPH4A | c.651C>G (p.Tyr217Ter) n.3302C>G | |
6 | g.116617274C>T | CA3970798 | RSPH4A | c.651C>T (p.Tyr217=) n.3302C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116617275C>A | CA365395597 | RSPH4A | c.652C>A (p.Leu218Met) n.3303C>A | |
6 | g.116617275C>G | CA365395600 | RSPH4A | c.652C>G (p.Leu218Val) n.3303C>G | gnomAD v4 |
6 | g.116617275C>T | CA451619626 | RSPH4A | c.652C>T (p.Leu218=) n.3303C>T | |
6 | g.116617276T>A | CA365395605 | RSPH4A | c.653T>A (p.Leu218Gln) n.3304T>A | |
6 | g.116617276T>C | CA365395609 | RSPH4A | c.653T>C (p.Leu218Pro) n.3304T>C | gnomAD v4 |
6 | g.116617276T>G | CA365395612 | RSPH4A | c.653T>G (p.Leu218Arg) n.3304T>G | |
6 | g.116617277G>A | CA451619627 | RSPH4A | c.654G>A (p.Leu218=) n.3305G>A | |
6 | g.116617277G>C | CA451619628 | RSPH4A | c.654G>C (p.Leu218=) n.3305G>C | |
6 | g.116617277G>T | CA451619629 | RSPH4A | c.654G>T (p.Leu218=) n.3305G>T | |
6 | g.116617278C>A | CA365395614 | RSPH4A | c.655C>A (p.Leu219Met) n.3306C>A | |
6 | g.116617278C>G | CA365395617 | RSPH4A | c.655C>G (p.Leu219Val) n.3306C>G | |
6 | g.116617278C>T | CA451619630 | RSPH4A | c.655C>T (p.Leu219=) n.3306C>T | |
6 | g.116617279T>A | CA3970799 | RSPH4A | c.656T>A (p.Leu219Gln) n.3307T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116617279T>C | CA365395618 | RSPH4A | c.656T>C (p.Leu219Pro) n.3307T>C | |
6 | g.116617279T>G | CA365395621 | RSPH4A | c.656T>G (p.Leu219Arg) n.3307T>G | |
6 | g.116617279T= | CA1657315012 | RSPH4A | c.656T= (p.Leu219=) n.3307T= | |
6 | g.116617280G>A | CA451619632 | RSPH4A | c.657G>A (p.Leu219=) n.3308G>A | |
6 | g.116617280G>C | CA451619634 | RSPH4A | c.657G>C (p.Leu219=) n.3308G>C | |
6 | g.116617280G>T | CA451619633 | RSPH4A | c.657G>T (p.Leu219=) n.3308G>T | |
6 | g.116617281A>C | CA365395625 | RSPH4A | c.658A>C (p.Lys220Gln) n.3309A>C | |
6 | g.116617281A>G | CA365395639 | RSPH4A | c.658A>G (p.Lys220Glu) n.3309A>G | |
6 | g.116617281A>T | CA365395642 | RSPH4A | c.658A>T (p.Lys220Ter) n.3309A>T | |
6 | g.116617282del | CA2680117683 | RSPH4A | c.659del (p.Lys220ArgfsTer18) n.3310del | gnomAD v4 |
6 | g.116617282A>C | CA365395647 | RSPH4A | c.659A>C (p.Lys220Thr) n.3310A>C | |
6 | g.116617282A>G | CA365395653 | RSPH4A | c.659A>G (p.Lys220Arg) n.3310A>G | |
6 | g.116617282A>T | CA365395657 | RSPH4A | c.659A>T (p.Lys220Met) n.3310A>T | |
6 | g.116617283G>A | CA451619638 | RSPH4A | c.660G>A (p.Lys220=) n.3311G>A | |
6 | g.116617283G>C | CA365395660 | RSPH4A | c.660G>C (p.Lys220Asn) n.3311G>C | |
6 | g.116617283G>T | CA365395661 | RSPH4A | c.660G>T (p.Lys220Asn) n.3311G>T | |
6 | g.116617284A>C | CA365395662 | RSPH4A | c.661A>C (p.Thr221Pro) n.3312A>C | |
6 | g.116617284A>G | CA365395667 | RSPH4A | c.661A>G (p.Thr221Ala) n.3312A>G | |
6 | g.116617284A>T | CA365395663 | RSPH4A | c.661A>T (p.Thr221Ser) n.3312A>T | |
6 | g.116617285C>A | CA365395671 | RSPH4A | c.662C>A (p.Thr221Asn) n.3313C>A | |
6 | g.116617285C>G | CA365395676 | RSPH4A | c.662C>G (p.Thr221Ser) n.3313C>G | |
6 | g.116617285C>T | CA365395678 | RSPH4A | c.662C>T (p.Thr221Ile) n.3313C>T | |
6 | g.116617286T>A | CA451619639 | RSPH4A | c.663T>A (p.Thr221=) n.3314T>A | |
6 | g.116617286T>C | CA3970800 | RSPH4A | c.663T>C (p.Thr221=) n.3314T>C | dbSNP ExAC gnomAD v2 |
6 | g.116617286T>G | CA451619640 | RSPH4A | c.663T>G (p.Thr221=) n.3314T>G | |
6 | g.116617286T= | CA1657315015 | RSPH4A | c.663T= (p.Thr221=) n.3314T= | |
6 | g.116617287A>C | CA365395686 | RSPH4A | c.664A>C (p.Ser222Arg) n.3315A>C | |
6 | g.116617287A>G | CA365395691 | RSPH4A | c.664A>G (p.Ser222Gly) n.3315A>G | |
6 | g.116617287A>T | CA365395694 | RSPH4A | c.664A>T (p.Ser222Cys) n.3315A>T | |
6 | g.116617288G>A | CA3970801 | RSPH4A | c.665G>A (p.Ser222Asn) n.3316G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.116617288G>C | CA365395699 | RSPH4A | c.665G>C (p.Ser222Thr) n.3316G>C | |
6 | g.116617288G= | CA1657315017 | RSPH4A | c.665G= (p.Ser222=) n.3316G= | |
6 | g.116617288G>T | CA365395710 | RSPH4A | c.665G>T (p.Ser222Ile) n.3316G>T | |
6 | g.116617289C>A | CA365395712 | RSPH4A | c.666C>A (p.Ser222Arg) n.3317C>A | |
6 | g.116617289C= | CA1657315022 | RSPH4A | c.666C= (p.Ser222=) n.3317C= | |
6 | g.116617289C>G | CA3970802 | RSPH4A | c.666C>G (p.Ser222Arg) n.3317C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116617289C>T | CA451619641 | RSPH4A | c.666C>T (p.Ser222=) n.3317C>T | COSMIC |
6 | g.116617289_116617290delinsCA | CA1657315020 | RSPH4A | c.666_667delinsCA (p.Ser222=) n.3317_3318delinsCA | |
6 | g.116617290del | CA264803 | RSPH4A | c.667del (p.Ser223AlafsTer15) n.3318del | ClinVar dbSNP |
6 | g.116617290A= | CA1657315030 | RSPH4A | c.667A= (p.Ser223=) n.3318A= | |
6 | g.116617290A>C | CA365395735 | RSPH4A | c.667A>C (p.Ser223Arg) n.3318A>C | dbSNP |
6 | g.116617290A>G | CA365395731 | RSPH4A | c.667A>G (p.Ser223Gly) n.3318A>G | ClinVar dbSNP |
6 | g.116617290A>T | CA365395728 | RSPH4A | c.667A>T (p.Ser223Cys) n.3318A>T | |
6 | g.116617291G>A | CA365395739 | RSPH4A | c.668G>A (p.Ser223Asn) n.3319G>A | |
6 | g.116617291G>C | CA365395740 | RSPH4A | c.668G>C (p.Ser223Thr) n.3319G>C | |
6 | g.116617291G>T | CA365395741 | RSPH4A | c.668G>T (p.Ser223Ile) n.3319G>T | |
6 | g.116617292C>A | CA365395744 | RSPH4A | c.669C>A (p.Ser223Arg) n.3320C>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116617292C= | CA1657315034 | RSPH4A | c.669C= (p.Ser223=) n.3320C= | |
6 | g.116617292C>G | CA365395750 | RSPH4A | c.669C>G (p.Ser223Arg) n.3320C>G | |
6 | g.116617292C>T | CA451619642 | RSPH4A | c.669C>T (p.Ser223=) n.3320C>T | |
6 | g.116617293A= | CA1657315036 | RSPH4A | c.670A= (p.Asn224=) n.3321A= | |
6 | g.116617293A>C | CA365395754 | RSPH4A | c.670A>C (p.Asn224His) n.3321A>C | gnomAD v4 |
6 | g.116617293A>G | CA365395756 | RSPH4A | c.670A>G (p.Asn224Asp) n.3321A>G | dbSNP gnomAD v4 |
6 | g.116617293A>T | CA365395759 | RSPH4A | c.670A>T (p.Asn224Tyr) n.3321A>T |