Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.153816444G>A | CA16603416 | GATAD2B | c.622C>T (p.Gln208Ter) c.1045C>T (p.Gln349Ter) c.997C>T (p.Gln333Ter) c.299C>T | ClinVar dbSNP |
1 | g.153816444G>C | CA342527557 | GATAD2B | c.622C>G (p.Gln208Glu) c.1045C>G (p.Gln349Glu) c.997C>G (p.Gln333Glu) c.299C>G | |
1 | g.153816444G= | CA2480601979 | GATAD2B | c.622C= (p.Gln208=) c.1045C= (p.Gln349=) c.997C= (p.Gln333=) c.299C= | |
1 | g.153816444G>T | CA342527559 | GATAD2B | c.622C>A (p.Gln208Lys) c.1045C>A (p.Gln349Lys) c.997C>A (p.Gln333Lys) c.299C>A | |
1 | g.153816445T>A | CA420946145 | GATAD2B | c.621A>T (p.Ser207=) c.1044A>T (p.Ser348=) c.996A>T (p.Ser332=) c.298A>T | |
1 | g.153816445T>C | CA420946146 | GATAD2B | c.621A>G (p.Ser207=) c.1044A>G (p.Ser348=) c.996A>G (p.Ser332=) c.298A>G | |
1 | g.153816445T>G | CA420946147 | GATAD2B | c.621A>C (p.Ser207=) c.1044A>C (p.Ser348=) c.996A>C (p.Ser332=) c.298A>C | |
1 | g.153816446G>A | CA342527563 | GATAD2B | c.620C>T (p.Ser207Leu) c.1043C>T (p.Ser348Leu) c.995C>T (p.Ser332Leu) c.297C>T | |
1 | g.153816446G>C | CA342527565 | GATAD2B | c.620C>G (p.Ser207Ter) c.1043C>G (p.Ser348Ter) c.995C>G (p.Ser332Ter) c.297C>G | ClinVar |
1 | g.153816446G>T | CA342527567 | GATAD2B | c.620C>A (p.Ser207Ter) c.1043C>A (p.Ser348Ter) c.995C>A (p.Ser332Ter) c.297C>A | |
1 | g.153816447A>C | CA342527575 | GATAD2B | c.619T>G (p.Ser207Ala) c.1042T>G (p.Ser348Ala) c.994T>G (p.Ser332Ala) c.296T>G | |
1 | g.153816447A>G | CA342527573 | GATAD2B | c.619T>C (p.Ser207Pro) c.1042T>C (p.Ser348Pro) c.994T>C (p.Ser332Pro) c.296T>C | |
1 | g.153816447A>T | CA342527570 | GATAD2B | c.619T>A (p.Ser207Thr) c.1042T>A (p.Ser348Thr) c.994T>A (p.Ser332Thr) c.296T>A | |
1 | g.153816448G>A | CA1120707 | GATAD2B | c.618C>T (p.Asn206=) c.1041C>T (p.Asn347=) c.993C>T (p.Asn331=) c.295C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153816448G>C | CA342527576 | GATAD2B | c.618C>G (p.Asn206Lys) c.1041C>G (p.Asn347Lys) c.993C>G (p.Asn331Lys) c.295C>G | |
1 | g.153816448G= | CA2480601980 | GATAD2B | c.618C= (p.Asn206=) c.1041C= (p.Asn347=) c.993C= (p.Asn331=) c.295C= | |
1 | g.153816448G>T | CA342527579 | GATAD2B | c.618C>A (p.Asn206Lys) c.1041C>A (p.Asn347Lys) c.993C>A (p.Asn331Lys) c.295C>A | |
1 | g.153816449T>A | CA342527583 | GATAD2B | c.617A>T (p.Asn206Ile) c.1040A>T (p.Asn347Ile) c.992A>T (p.Asn331Ile) c.294A>T | |
1 | g.153816449T>C | CA30707840 | GATAD2B | c.617A>G (p.Asn206Ser) c.1040A>G (p.Asn347Ser) c.992A>G (p.Asn331Ser) c.294A>G | dbSNP gnomAD v4 |
1 | g.153816449T>G | CA342527587 | GATAD2B | c.617A>C (p.Asn206Thr) c.1040A>C (p.Asn347Thr) c.992A>C (p.Asn331Thr) c.294A>C | gnomAD v4 |
1 | g.153816449T= | CA2480601981 | GATAD2B | c.617A= (p.Asn206=) c.1040A= (p.Asn347=) c.992A= (p.Asn331=) c.294A= | |
1 | g.153816450T>A | CA342527591 | GATAD2B | c.616A>T (p.Asn206Tyr) c.1039A>T (p.Asn347Tyr) c.991A>T (p.Asn331Tyr) c.293A>T | |
1 | g.153816450T>C | CA342527592 | GATAD2B | c.616A>G (p.Asn206Asp) c.1039A>G (p.Asn347Asp) c.991A>G (p.Asn331Asp) c.293A>G | |
1 | g.153816450T>G | CA342527594 | GATAD2B | c.616A>C (p.Asn206His) c.1039A>C (p.Asn347His) c.991A>C (p.Asn331His) c.293A>C | |
1 | g.153816451G>A | CA1120708 | GATAD2B | c.615C>T (p.Ala205=) c.1038C>T (p.Ala346=) c.990C>T (p.Ala330=) c.292C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153816451G>C | CA420946148 | GATAD2B | c.615C>G (p.Ala205=) c.1038C>G (p.Ala346=) c.990C>G (p.Ala330=) c.292C>G | gnomAD v4 |
1 | g.153816451G= | CA1141426560 | GATAD2B | c.615C= (p.Ala205=) c.1038C= (p.Ala346=) c.990C= (p.Ala330=) c.292C= | |
1 | g.153816451G>T | CA420946149 | GATAD2B | c.615C>A (p.Ala205=) c.1038C>A (p.Ala346=) c.990C>A (p.Ala330=) c.292C>A | |
1 | g.153816452G>A | CA342527599 | GATAD2B | c.614C>T (p.Ala205Val) c.1037C>T (p.Ala346Val) c.989C>T (p.Ala330Val) c.291C>T | |
1 | g.153816452G>C | CA342527600 | GATAD2B | c.614C>G (p.Ala205Gly) c.1037C>G (p.Ala346Gly) c.989C>G (p.Ala330Gly) c.291C>G | |
1 | g.153816452G>T | CA342527603 | GATAD2B | c.614C>A (p.Ala205Asp) c.1037C>A (p.Ala346Asp) c.989C>A (p.Ala330Asp) c.291C>A | |
1 | g.153816453C>A | CA342527608 | GATAD2B | c.613G>T (p.Ala205Ser) c.1036G>T (p.Ala346Ser) c.988G>T (p.Ala330Ser) c.290G>T | |
1 | g.153816453C>G | CA342527611 | GATAD2B | c.613G>C (p.Ala205Pro) c.1036G>C (p.Ala346Pro) c.988G>C (p.Ala330Pro) c.290G>C | |
1 | g.153816453C>T | CA342527606 | GATAD2B | c.613G>A (p.Ala205Thr) c.1036G>A (p.Ala346Thr) c.988G>A (p.Ala330Thr) c.290G>A | |
1 | g.153816454A= | CA2480601982 | GATAD2B | c.612T= (p.Ala204=) c.1035T= (p.Ala345=) c.987T= (p.Ala329=) c.289T= | |
1 | g.153816454A>C | CA420946150 | GATAD2B | c.612T>G (p.Ala204=) c.1035T>G (p.Ala345=) c.987T>G (p.Ala329=) c.289T>G | |
1 | g.153816454A>G | CA30707855 | GATAD2B | c.612T>C (p.Ala204=) c.1035T>C (p.Ala345=) c.987T>C (p.Ala329=) c.289T>C | ClinVar dbSNP |
1 | g.153816454A>T | CA420946151 | GATAD2B | c.612T>A (p.Ala204=) c.1035T>A (p.Ala345=) c.987T>A (p.Ala329=) c.289T>A | dbSNP |
1 | g.153816455G>A | CA342527614 | GATAD2B | c.611C>T (p.Ala204Val) c.1034C>T (p.Ala345Val) c.986C>T (p.Ala329Val) c.288C>T | |
1 | g.153816455G>C | CA342527616 | GATAD2B | c.611C>G (p.Ala204Gly) c.1034C>G (p.Ala345Gly) c.986C>G (p.Ala329Gly) c.288C>G | |
1 | g.153816455G>T | CA342527619 | GATAD2B | c.611C>A (p.Ala204Asp) c.1034C>A (p.Ala345Asp) c.986C>A (p.Ala329Asp) c.288C>A | |
1 | g.153816456C>A | CA342527624 | GATAD2B | c.610G>T (p.Ala204Ser) c.1033G>T (p.Ala345Ser) c.985G>T (p.Ala329Ser) c.287G>T | |
1 | g.153816456C>G | CA342527627 | GATAD2B | c.610G>C (p.Ala204Pro) c.1033G>C (p.Ala345Pro) c.985G>C (p.Ala329Pro) c.287G>C | |
1 | g.153816456C>T | CA342527630 | GATAD2B | c.610G>A (p.Ala204Thr) c.1033G>A (p.Ala345Thr) c.985G>A (p.Ala329Thr) c.287G>A | gnomAD v4 |
1 | g.153816457A>C | CA342527635 | GATAD2B | c.609T>G (p.Asp203Glu) c.1032T>G (p.Asp344Glu) c.984T>G (p.Asp328Glu) c.286T>G | |
1 | g.153816457A>G | CA420946152 | GATAD2B | c.609T>C (p.Asp203=) c.1032T>C (p.Asp344=) c.984T>C (p.Asp328=) c.286T>C | |
1 | g.153816457A>T | CA342527637 | GATAD2B | c.609T>A (p.Asp203Glu) c.1032T>A (p.Asp344Glu) c.984T>A (p.Asp328Glu) c.286T>A | |
1 | g.153816458T>A | CA342527641 | GATAD2B | c.608A>T (p.Asp203Val) c.1031A>T (p.Asp344Val) c.983A>T (p.Asp328Val) c.285A>T | |
1 | g.153816458T>C | CA342527644 | GATAD2B | c.608A>G (p.Asp203Gly) c.1031A>G (p.Asp344Gly) c.983A>G (p.Asp328Gly) c.285A>G | |
1 | g.153816458T>G | CA342527649 | GATAD2B | c.608A>C (p.Asp203Ala) c.1031A>C (p.Asp344Ala) c.983A>C (p.Asp328Ala) c.285A>C |