Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240874014T>A | CA351316893 | AGXT | c.632T>A (p.Leu211Gln) n.332+965T>A | |
2 | g.240874014T>C | CA351316897 | AGXT | c.632T>C (p.Leu211Pro) n.332+965T>C | |
2 | g.240874014T>G | CA351316895 | AGXT | c.632T>G (p.Leu211Arg) n.332+965T>G | ClinVar |
2 | g.240874015G>A | CA432024159 | AGXT | c.633G>A (p.Leu211=) n.332+966G>A | |
2 | g.240874015G>C | CA432024160 | AGXT | c.633G>C (p.Leu211=) n.332+966G>C | |
2 | g.240874015G>T | CA432024162 | AGXT | c.633G>T (p.Leu211=) n.332+966G>T | |
2 | g.240874016A>C | CA351316899 | AGXT | c.634A>C (p.Asn212His) n.332+967A>C | gnomAD v4 |
2 | g.240874016A>G | CA351316901 | AGXT | c.634A>G (p.Asn212Asp) n.332+967A>G | |
2 | g.240874016A>T | CA351316903 | AGXT | c.634A>T (p.Asn212Tyr) n.332+967A>T | |
2 | g.240874017A= | CA1339333573 | AGXT | c.635A= (p.Asn212=) n.332+968A= | |
2 | g.240874017A>C | CA351316908 | AGXT | c.635A>C (p.Asn212Thr) n.332+968A>C | |
2 | g.240874017A>G | CA2209176 | AGXT | c.635A>G (p.Asn212Ser) n.332+968A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240874017A>T | CA351316911 | AGXT | c.635A>T (p.Asn212Ile) n.332+968A>T | |
2 | g.240874018C>A | CA351316918 | AGXT | c.636C>A (p.Asn212Lys) n.332+969C>A | gnomAD v4 |
2 | g.240874018C= | CA1339333574 | AGXT | c.636C= (p.Asn212=) n.332+969C= | |
2 | g.240874018C>G | CA351316920 | AGXT | c.636C>G (p.Asn212Lys) n.332+969C>G | |
2 | g.240874018C>T | CA2209177 | AGXT | c.636C>T (p.Asn212=) n.332+969C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240874019G>A | CA351316926 | AGXT | c.637G>A (p.Ala213Thr) n.332+970G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240874019G>C | CA351316924 | AGXT | c.637G>C (p.Ala213Pro) n.332+970G>C | |
2 | g.240874019G= | CA1339333575 | AGXT | c.637G= (p.Ala213=) n.332+970G= | |
2 | g.240874019G>T | CA351316923 | AGXT | c.637G>T (p.Ala213Ser) n.332+970G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240874020C>A | CA351316927 | AGXT | c.638C>A (p.Ala213Asp) n.332+971C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874020C= | CA1339333576 | AGXT | c.638C= (p.Ala213=) n.332+971C= | |
2 | g.240874020C>G | CA351316928 | AGXT | c.638C>G (p.Ala213Gly) n.332+971C>G | |
2 | g.240874020C>T | CA2209178 | AGXT | c.638C>T (p.Ala213Val) n.332+971C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240874021C>A | CA432024174 | AGXT | c.639C>A (p.Ala213=) n.332+972C>A | gnomAD v4 |
2 | g.240874021C= | CA1339333577 | AGXT | c.639C= (p.Ala213=) n.332+972C= | |
2 | g.240874021C>G | CA432024175 | AGXT | c.639C>G (p.Ala213=) n.332+972C>G | |
2 | g.240874021C>T | CA2209179 | AGXT | c.639C>T (p.Ala213=) n.332+972C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874022C>A | CA351316931 | AGXT | c.640C>A (p.Pro214Thr) n.332+973C>A | |
2 | g.240874022C>G | CA351316933 | AGXT | c.640C>G (p.Pro214Ala) n.332+973C>G | |
2 | g.240874022C>T | CA351316935 | AGXT | c.640C>T (p.Pro214Ser) n.332+973C>T | |
2 | g.240874023C>A | CA351316937 | AGXT | c.641C>A (p.Pro214His) n.332+974C>A | |
2 | g.240874023C>G | CA351316939 | AGXT | c.641C>G (p.Pro214Arg) n.332+974C>G | |
2 | g.240874023C>T | CA351316941 | AGXT | c.641C>T (p.Pro214Leu) n.332+974C>T | |
2 | g.240874023_240874027delinsCTCCA | CA1339333578 | AGXT | c.641_645delinsCTCCA (p.Pro214=) n.332+974_332+978delinsCTCCA | |
2 | g.240874024del | CA2573051906 | AGXT | c.642del (p.Pro215GlnfsTer?) n.332+975del | ClinVar dbSNP |
2 | g.240874024T>A | CA432024179 | AGXT | c.642T>A (p.Pro214=) n.332+975T>A | |
2 | g.240874024T>C | CA432024180 | AGXT | c.642T>C (p.Pro214=) n.332+975T>C | |
2 | g.240874024T>G | CA432024181 | AGXT | c.642T>G (p.Pro214=) n.332+975T>G | |
2 | g.240874024_240874027del | CA275844 | AGXT | c.642_645del (p.Pro215GlyfsTer?) n.332+975_332+978del | ClinVar dbSNP |
2 | g.240874025C>A | CA351316944 | AGXT | c.643C>A (p.Pro215Thr) n.332+976C>A | |
2 | g.240874025C= | CA1339333579 | AGXT | c.643C= (p.Pro215=) n.332+976C= | |
2 | g.240874025C>G | CA68179273 | AGXT | c.643C>G (p.Pro215Ala) n.332+976C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.240874025C>T | CA351316946 | AGXT | c.643C>T (p.Pro215Ser) n.332+976C>T | |
2 | g.240874026C>A | CA351316953 | AGXT | c.644C>A (p.Pro215Gln) n.332+977C>A | |
2 | g.240874026C>G | CA351316950 | AGXT | c.644C>G (p.Pro215Arg) n.332+977C>G | |
2 | g.240874026C>T | CA351316948 | AGXT | c.644C>T (p.Pro215Leu) n.332+977C>T | |
2 | g.240874027A>C | CA432024185 | AGXT | c.645A>C (p.Pro215=) n.332+978A>C | |
2 | g.240874027A>G | CA432024187 | AGXT | c.645A>G (p.Pro215=) n.332+978A>G | ClinVar dbSNP |
2 | g.240874027A>T | CA432024189 | AGXT | c.645A>T (p.Pro215=) n.332+978A>T | |
2 | g.240874028G>A | CA275728 | AGXT | c.646G>A (p.Gly216Arg) n.332+979G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240874028G>C | CA351316956 | AGXT | c.646G>C (p.Gly216Arg) n.332+979G>C | |
2 | g.240874028G= | CA1339333580 | AGXT | c.646G= (p.Gly216=) n.332+979G= | |
2 | g.240874028G>T | CA351316958 | AGXT | c.646G>T (p.Gly216Trp) n.332+979G>T | |
2 | g.240874029G>A | CA2209180 | AGXT | c.647G>A (p.Gly216Glu) n.332+980G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240874029G>C | CA351316960 | AGXT | c.647G>C (p.Gly216Ala) n.332+980G>C | |
2 | g.240874029G= | CA1339333581 | AGXT | c.647G= (p.Gly216=) n.332+980G= | |
2 | g.240874029G>T | CA351316962 | AGXT | c.647G>T (p.Gly216Val) n.332+980G>T | |
2 | g.240874029_240874030delinsAA | CA645538649 | AGXT | c.647_648delinsAA (p.Gly216Glu) n.332+980_332+981delinsAA | COSMIC |
2 | g.240874030G>A | CA432024194 | AGXT | c.648G>A (p.Gly216=) n.332+981G>A | |
2 | g.240874030G>C | CA2209181 | AGXT | c.648G>C (p.Gly216=) n.332+981G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874030G= | CA1339333582 | AGXT | c.648G= (p.Gly216=) n.332+981G= | |
2 | g.240874030G>T | CA432024195 | AGXT | c.648G>T (p.Gly216=) n.332+981G>T | |
2 | g.240874031A>C | CA351316966 | AGXT | c.649A>C (p.Thr217Pro) n.332+982A>C | |
2 | g.240874031A>G | CA351316968 | AGXT | c.649A>G (p.Thr217Ala) n.332+982A>G | |
2 | g.240874031A>T | CA351316970 | AGXT | c.649A>T (p.Thr217Ser) n.332+982A>T | |
2 | g.240874032C>A | CA351316972 | AGXT | c.650C>A (p.Thr217Asn) n.332+983C>A | |
2 | g.240874032C>G | CA351316974 | AGXT | c.650C>G (p.Thr217Ser) n.332+983C>G | |
2 | g.240874032C>T | CA351316978 | AGXT | c.650C>T (p.Thr217Ile) n.332+983C>T | |
2 | g.240874033C>A | CA432024205 | AGXT | c.651C>A (p.Thr217=) n.332+984C>A | |
2 | g.240874033C= | CA1339333583 | AGXT | c.651C= (p.Thr217=) n.332+984C= | |
2 | g.240874033C>G | CA432024206 | AGXT | c.651C>G (p.Thr217=) n.332+984C>G | |
2 | g.240874033C>T | CA2209182 | AGXT | c.651C>T (p.Thr217=) n.332+984C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874034T>A | CA351316983 | AGXT | c.652T>A (p.Ser218Thr) n.332+985T>A | |
2 | g.240874034T>C | CA351316980 | AGXT | c.652T>C (p.Ser218Pro) n.332+985T>C | |
2 | g.240874034T>G | CA351316981 | AGXT | c.652T>G (p.Ser218Ala) n.332+985T>G | |
2 | g.240874035C>A | CA351316985 | AGXT | c.653C>A (p.Ser218Ter) n.332+986C>A | ClinVar dbSNP |
2 | g.240874035C= | CA1339333584 | AGXT | c.653C= (p.Ser218=) n.332+986C= | |
2 | g.240874035C>G | CA351316987 | AGXT | c.653C>G (p.Ser218Trp) n.332+986C>G | |
2 | g.240874035C>T | CA274210 | AGXT | c.653C>T (p.Ser218Leu) n.332+986C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874036G>A | CA203191 | AGXT | c.654G>A (p.Ser218=) n.332+987G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874036G>C | CA432024210 | AGXT | c.654G>C (p.Ser218=) n.332+987G>C | |
2 | g.240874036G= | CA1339333585 | AGXT | c.654G= (p.Ser218=) n.332+987G= | |
2 | g.240874036G>T | CA432024211 | AGXT | c.654G>T (p.Ser218=) n.332+987G>T | |
2 | g.240874037C>A | CA351316992 | AGXT | c.655C>A (p.Leu219Ile) n.332+988C>A | |
2 | g.240874037C= | CA1339333586 | AGXT | c.655C= (p.Leu219=) n.332+988C= | |
2 | g.240874037C>G | CA351316993 | AGXT | c.655C>G (p.Leu219Val) n.332+988C>G | |
2 | g.240874037C>T | CA351316999 | AGXT | c.655C>T (p.Leu219Phe) n.332+988C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240874038T>A | CA351317001 | AGXT | c.656T>A (p.Leu219His) n.332+989T>A | |
2 | g.240874038T>C | CA351317003 | AGXT | c.656T>C (p.Leu219Pro) n.332+989T>C | |
2 | g.240874038T>G | CA351317004 | AGXT | c.656T>G (p.Leu219Arg) n.332+989T>G | |
2 | g.240874039C>A | CA432024216 | AGXT | c.657C>A (p.Leu219=) n.332+990C>A | COSMIC |
2 | g.240874039C>G | CA432024217 | AGXT | c.657C>G (p.Leu219=) n.332+990C>G | |
2 | g.240874039C>T | CA432024219 | AGXT | c.657C>T (p.Leu219=) n.332+990C>T | gnomAD v4 COSMIC |
2 | g.240874040A>C | CA351317011 | AGXT | c.658A>C (p.Ile220Leu) n.332+991A>C | gnomAD v4 |
2 | g.240874040A>G | CA351317009 | AGXT | c.658A>G (p.Ile220Val) n.332+991A>G | gnomAD v4 |
2 | g.240874040A>T | CA351317007 | AGXT | c.658A>T (p.Ile220Phe) n.332+991A>T | ClinVar |
2 | g.240874041T>A | CA351317013 | AGXT | c.659T>A (p.Ile220Asn) n.332+992T>A | |
2 | g.240874041T>C | CA68179282 | AGXT | c.659T>C (p.Ile220Thr) n.332+992T>C | dbSNP |
2 | g.240874041T>G | CA351317015 | AGXT | c.659T>G (p.Ile220Ser) n.332+992T>G | |
2 | g.240874041T= | CA1339333587 | AGXT | c.659T= (p.Ile220=) n.332+992T= | |
2 | g.240874041_240874044delinsTCTC | CA1339333588 | AGXT | c.659_662delinsTCTC (p.Ile220=) n.332+992_332+995delinsTCTC | |
2 | g.240874042C>A | CA432024222 | AGXT | c.660C>A (p.Ile220=) n.332+993C>A | |
2 | g.240874042C= | CA1339333589 | AGXT | c.660C= (p.Ile220=) n.332+993C= | |
2 | g.240874042C>G | CA351317017 | AGXT | c.660C>G (p.Ile220Met) n.332+993C>G | |
2 | g.240874042C>T | CA2209183 | AGXT | c.660C>T (p.Ile220=) n.332+993C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874044_240874046del | CA275845 | AGXT | c.662_664del (p.Ser221del) n.332+995_332+997del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874043T>A | CA351317021 | AGXT | c.661T>A (p.Ser221Thr) n.332+994T>A | |
2 | g.240874043T>C | CA275730 | AGXT | c.661T>C (p.Ser221Pro) n.332+994T>C | ClinVar dbSNP |
2 | g.240874043T>G | CA351317024 | AGXT | c.661T>G (p.Ser221Ala) n.332+994T>G | |
2 | g.240874043T= | CA1339333590 | AGXT | c.661T= (p.Ser221=) n.332+994T= | |
2 | g.240874044C>A | CA351317027 | AGXT | c.662C>A (p.Ser221Tyr) n.332+995C>A | |
2 | g.240874044C= | CA1339333591 | AGXT | c.662C= (p.Ser221=) n.332+995C= | |
2 | g.240874044C>G | CA351317028 | AGXT | c.662C>G (p.Ser221Cys) n.332+995C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240874044C>T | CA351317030 | AGXT | c.662C>T (p.Ser221Phe) n.332+995C>T | |
2 | g.240874045C>A | CA432024233 | AGXT | c.663C>A (p.Ser221=) n.332+996C>A | |
2 | g.240874045C= | CA1339333592 | AGXT | c.663C= (p.Ser221=) n.332+996C= | |
2 | g.240874045C>G | CA432024234 | AGXT | c.663C>G (p.Ser221=) n.332+996C>G | |
2 | g.240874045C>T | CA432024235 | AGXT | c.663C>T (p.Ser221=) n.332+996C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.240874046T>A | CA351317037 | AGXT | c.664T>A (p.Phe222Ile) n.332+997T>A | |
2 | g.240874046T>C | CA351317034 | AGXT | c.664T>C (p.Phe222Leu) n.332+997T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240874046T>G | CA351317032 | AGXT | c.664T>G (p.Phe222Val) n.332+997T>G | |
2 | g.240874046T= | CA1339333593 | AGXT | c.664T= (p.Phe222=) n.332+997T= | |
2 | g.240874047dup | CA2580068030 | AGXT | c.665dup (p.Ser223GlnfsTer2) n.332+998dup | ClinVar |
2 | g.240874047T>A | CA351317039 | AGXT | c.665T>A (p.Phe222Tyr) n.332+998T>A | |
2 | g.240874047T>C | CA351317043 | AGXT | c.665T>C (p.Phe222Ser) n.332+998T>C | |
2 | g.240874047T>G | CA351317041 | AGXT | c.665T>G (p.Phe222Cys) n.332+998T>G | |
2 | g.240874048C>A | CA351317046 | AGXT | c.666C>A (p.Phe222Leu) n.332+999C>A | |
2 | g.240874048C>G | CA351317047 | AGXT | c.666C>G (p.Phe222Leu) n.332+999C>G | |
2 | g.240874048C>T | CA432024237 | AGXT | c.666C>T (p.Phe222=) n.332+999C>T | |
2 | g.240874049A>C | CA351317048 | AGXT | c.667A>C (p.Ser223Arg) n.332+1000A>C | ClinVar |
2 | g.240874049A>G | CA351317049 | AGXT | c.667A>G (p.Ser223Gly) n.332+1000A>G | |
2 | g.240874049A>T | CA351317051 | AGXT | c.667A>T (p.Ser223Cys) n.332+1000A>T | |
2 | g.240874050G>A | CA351317053 | AGXT | c.668G>A (p.Ser223Asn) n.332+1001G>A | |
2 | g.240874050G>C | CA351317057 | AGXT | c.668G>C (p.Ser223Thr) n.332+1001G>C | |
2 | g.240874050G>T | CA351317059 | AGXT | c.668G>T (p.Ser223Ile) n.332+1001G>T | |
2 | g.240874051T>A | CA351317061 | AGXT | c.669T>A (p.Ser223Arg) n.332+1002T>A | |
2 | g.240874051T>C | CA432024244 | AGXT | c.669T>C (p.Ser223=) n.332+1002T>C | |
2 | g.240874051T>G | CA351317063 | AGXT | c.669T>G (p.Ser223Arg) n.332+1002T>G | |
2 | g.240874052G>A | CA351317065 | AGXT | c.670G>A (p.Asp224Asn) n.332+1003G>A | dbSNP |
2 | g.240874052G>C | CA351317067 | AGXT | c.670G>C (p.Asp224His) n.332+1003G>C | |
2 | g.240874052G= | CA1339333594 | AGXT | c.670G= (p.Asp224=) n.332+1003G= | |
2 | g.240874052G>T | CA351317068 | AGXT | c.670G>T (p.Asp224Tyr) n.332+1003G>T | |
2 | g.240874053A= | CA1339333595 | AGXT | c.671A= (p.Asp224=) n.332+1004A= | |
2 | g.240874053A>C | CA351317074 | AGXT | c.671A>C (p.Asp224Ala) n.332+1004A>C | |
2 | g.240874053A>G | CA351317071 | AGXT | c.671A>G (p.Asp224Gly) n.332+1004A>G | dbSNP |
2 | g.240874053A>T | CA351317073 | AGXT | c.671A>T (p.Asp224Val) n.332+1004A>T | |
2 | g.240874054C>A | CA351317075 | AGXT | c.672C>A (p.Asp224Glu) n.332+1005C>A | COSMIC |
2 | g.240874054C>G | CA351317076 | AGXT | c.672C>G (p.Asp224Glu) n.332+1005C>G | |
2 | g.240874054C>T | CA432024249 | AGXT | c.672C>T (p.Asp224=) n.332+1005C>T | ClinVar |
2 | g.240874054_240874058delinsCAAGG | CA1339333596 | AGXT | c.672_676delinsCAAGG (p.Asp224=) n.332+1005_332+1009delinsCAAGG | |
2 | g.240874055A>C | CA351317077 | AGXT | c.673A>C (p.Lys225Gln) n.332+1006A>C | |
2 | g.240874055A>G | CA351317078 | AGXT | c.673A>G (p.Lys225Glu) n.332+1006A>G | COSMIC |
2 | g.240874055A>T | CA351317079 | AGXT | c.673A>T (p.Lys225Ter) n.332+1006A>T | ClinVar |
2 | g.240874055_240874058del | CA16040868 | AGXT | c.673_676del (p.Lys225ProfsTer?) n.332+1006_332+1009del | ClinVar dbSNP gnomAD v4 |
2 | g.240874056A>C | CA351317080 | AGXT | c.674A>C (p.Lys225Thr) n.332+1007A>C | |
2 | g.240874056A>G | CA351317081 | AGXT | c.674A>G (p.Lys225Arg) n.332+1007A>G | |
2 | g.240874056A>T | CA351317082 | AGXT | c.674A>T (p.Lys225Met) n.332+1007A>T | |
2 | g.240874057G>A | CA432024252 | AGXT | c.675G>A (p.Lys225=) n.332+1008G>A | |
2 | g.240874057G>C | CA351317083 | AGXT | c.675G>C (p.Lys225Asn) n.332+1008G>C | |
2 | g.240874057G>T | CA351317084 | AGXT | c.675G>T (p.Lys225Asn) n.332+1008G>T | |
2 | g.240874058G>A | CA351317085 | AGXT | c.676G>A (p.Ala226Thr) n.332+1009G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874058G>C | CA351317087 | AGXT | c.676G>C (p.Ala226Pro) n.332+1009G>C | |
2 | g.240874058G= | CA1339333597 | AGXT | c.676G= (p.Ala226=) n.332+1009G= | |
2 | g.240874058G>T | CA2209184 | AGXT | c.676G>T (p.Ala226Ser) n.332+1009G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240874059C>A | CA351317089 | AGXT | c.677C>A (p.Ala226Asp) n.332+1010C>A | |
2 | g.240874059C= | CA1339333598 | AGXT | c.677C= (p.Ala226=) n.332+1010C= | |
2 | g.240874059C>G | CA351317091 | AGXT | c.677C>G (p.Ala226Gly) n.332+1010C>G | dbSNP |
2 | g.240874059C>T | CA351317093 | AGXT | c.677C>T (p.Ala226Val) n.332+1010C>T | |
2 | g.240874060C>A | CA432024256 | AGXT | c.678C>A (p.Ala226=) n.332+1011C>A | |
2 | g.240874060C>G | CA432024257 | AGXT | c.678C>G (p.Ala226=) n.332+1011C>G | |
2 | g.240874060C>T | CA432024258 | AGXT | c.678C>T (p.Ala226=) n.332+1011C>T | |
2 | g.240874060_240874064delinsCAAGT | CA1339333599 | AGXT | c.678_680+2delinsCAAGT n.332+1011_332+1015delinsCAAGT | |
2 | g.240874061A= | CA1339333600 | AGXT | c.679A= (p.Lys227=) n.332+1012A= | |
2 | g.240874061A>C | CA351317095 | AGXT | c.679A>C (p.Lys227Gln) n.332+1012A>C | |
2 | g.240874061A>G | CA2209185 | AGXT | c.679A>G (p.Lys227Glu) n.332+1012A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874061A>T | CA351317097 | AGXT | c.679A>T (p.Lys227Ter) n.332+1012A>T | |
2 | g.240874061_240874062del | CA2586971640 | AGXT | c.679_680del (p.Lys228GlufsTer26) n.332+1012_332+1013del | |
2 | g.240874061_240874064del | CA275847 | AGXT | c.679_680+2del n.332+1012_332+1015del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240874062A>C | CA351317101 | AGXT | c.680A>C (p.Lys227Thr) n.332+1013A>C | |
2 | g.240874062A>G | CA351317102 | AGXT | c.680A>G (p.Lys227Arg) n.332+1013A>G | |
2 | g.240874062A>T | CA351317105 | AGXT | c.680A>T (p.Lys227Ile) n.332+1013A>T | |
2 | g.240874063G>A | CA275794 | AGXT | c.680+1G>A (n.680+1G>A) n.332+1014G>A | ClinVar dbSNP gnomAD v4 |
2 | g.240874063G>C | CA275793 | AGXT | c.680+1G>C (n.680+1G>C) n.332+1014G>C | ClinVar dbSNP |
2 | g.240874063G= | CA1339333601 | AGXT | c.680+1G= (n.680+1G=) n.332+1014G= | |
2 | g.240874063G>T | CA351317110 | AGXT | c.680+1G>T (n.680+1G>T) n.332+1014G>T | ClinVar |
2 | g.240874064T>A | CA275795 | AGXT | c.680+2T>A (n.680+2T>A) n.332+1015T>A | ClinVar dbSNP |
2 | g.240874064T>C | CA351317114 | AGXT | c.680+2T>C (n.680+2T>C) n.332+1015T>C | |
2 | g.240874064T>G | CA351317112 | AGXT | c.680+2T>G (n.680+2T>G) n.332+1015T>G | |
2 | g.240874064T= | CA1339333602 | AGXT | c.680+2T= (n.680+2T=) n.332+1015T= | |
2 | g.240874065G>A | CA1339333603 | AGXT | c.680+3G>A (n.680+3G>A) n.332+1016G>A | dbSNP gnomAD v4 |
2 | g.240874065G>C | CA2740098051 | AGXT | c.680+3G>C (n.680+3G>C) n.332+1016G>C | ClinVar |
2 | g.240874065G= | CA1339333604 | AGXT | c.680+3G= (n.680+3G=) n.332+1016G= | |
2 | g.240874066_240874068delinsAGT | CA1339333605 | AGXT | c.680+4_680+6delinsAGT (n.680+4_680+6delinsAGT) n.332+1017_332+1019delinsAGT | |
2 | g.240874067G>C | CA275796 | AGXT | c.680+5G>C (n.680+5G>C) n.332+1018G>C | ClinVar dbSNP |
2 | g.240874067G= | CA1339333606 | AGXT | c.680+5G= (n.680+5G=) n.332+1018G= | |
2 | g.240874068_240874069del | CA2209186 | AGXT | c.680+6_680+7del (n.680+6_680+7del) n.332+1019_332+1020del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240874068T>C | CA2664007938 | AGXT | c.680+6T>C (n.680+6T>C) n.332+1019T>C | gnomAD v4 |
2 | g.240874069G= | CA1339333607 | AGXT | c.680+7G= (n.680+7G=) n.332+1020G= | |
2 | g.240874069G>T | CA2209187 | AGXT | c.680+7G>T (n.680+7G>T) n.332+1020G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874070A= | CA1339333608 | AGXT | c.680+8A= (n.680+8A=) n.332+1021A= | |
2 | g.240874071C>A | CA2664007943 | AGXT | c.680+9C>A (n.680+9C>A) n.332+1022C>A | gnomAD v4 |
2 | g.240874071C>T | CA2664007944 | AGXT | c.680+9C>T (n.680+9C>T) n.332+1022C>T | gnomAD v4 |
2 | g.240874073dup | CA540536291 | AGXT | c.680+11dup (n.680+11dup) n.332+1024dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240874073C>T | CA2536380177 | AGXT | c.680+11C>T (n.680+11C>T) n.332+1024C>T | |
2 | g.240874074A>C | CA2664007950 | AGXT | c.680+12A>C (n.680+12A>C) n.332+1025A>C | ClinVar gnomAD v4 |
2 | g.240874075C= | CA1339333609 | AGXT | c.680+13C= (n.680+13C=) n.332+1026C= | |
2 | g.240874075C>G | CA68179299 | AGXT | c.680+13C>G (n.680+13C>G) n.332+1026C>G | ClinVar dbSNP gnomAD v4 |
2 | g.240874075C>T | CA2664007954 | AGXT | c.680+13C>T (n.680+13C>T) n.332+1026C>T | gnomAD v4 |
2 | g.240874079C>A | CA1339333611 | AGXT | c.680+17C>A (n.680+17C>A) n.333-1030C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240874079C= | CA1339333610 | AGXT | c.680+17C= (n.680+17C=) n.333-1030C= | |
2 | g.240874079C>G | CA1044068564 | AGXT | c.680+17C>G (n.680+17C>G) n.333-1030C>G | gnomAD v3 gnomAD v4 |
2 | g.240874079C>T | CA275581 | AGXT | c.680+17C>T (n.680+17C>T) n.333-1030C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874081C>A | CA2664007962 | AGXT | c.680+19C>A (n.680+19C>A) n.333-1028C>A | gnomAD v4 |
2 | g.240874081C= | CA1339333612 | AGXT | c.680+19C= (n.680+19C=) n.333-1028C= | |
2 | g.240874081C>G | CA2664007963 | AGXT | c.680+19C>G (n.680+19C>G) n.333-1028C>G | gnomAD v4 |
2 | g.240874081C>T | CA68179303 | AGXT | c.680+19C>T (n.680+19C>T) n.333-1028C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240874083C= | CA1339333613 | AGXT | c.680+21C= (n.680+21C=) n.333-1026C= | |
2 | g.240874083C>T | CA1339333614 | AGXT | c.680+21C>T (n.680+21C>T) n.333-1026C>T | dbSNP |
2 | g.240874084A= | CA1339333615 | AGXT | c.680+22A= (n.680+22A=) n.333-1025A= | |
2 | g.240874084A>C | CA2577302627 | AGXT | c.680+22A>C (n.680+22A>C) n.333-1025A>C | gnomAD v4 |
2 | g.240874084A>G | CA2209188 | AGXT | c.680+22A>G (n.680+22A>G) n.333-1025A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874085C= | CA1339333616 | AGXT | c.680+23C= (n.680+23C=) n.333-1024C= | |
2 | g.240874085C>T | CA2209189 | AGXT | c.680+23C>T (n.680+23C>T) n.333-1024C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240874086C>A | CA2577302628 | AGXT | c.680+24C>A (n.680+24C>A) n.333-1023C>A | gnomAD v4 |
2 | g.240874086C= | CA1339333617 | AGXT | c.680+24C= (n.680+24C=) n.333-1023C= | |
2 | g.240874086C>T | CA2209190 | AGXT | c.680+24C>T (n.680+24C>T) n.333-1023C>T | dbSNP ExAC gnomAD v4 |
2 | g.240874089T>A | CA2664007980 | AGXT | c.680+27T>A (n.680+27T>A) n.333-1020T>A | gnomAD v4 |
2 | g.240874090G>A | CA540536292 | AGXT | c.680+28G>A (n.680+28G>A) n.333-1019G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240874090G>C | CA2664007982 | AGXT | c.680+28G>C (n.680+28G>C) n.333-1019G>C | gnomAD v4 |
2 | g.240874090G= | CA1339333618 | AGXT | c.680+28G= (n.680+28G=) n.333-1019G= | |
2 | g.240874090G>T | CA2664007985 | AGXT | c.680+28G>T (n.680+28G>T) n.333-1019G>T | gnomAD v4 |
2 | g.240874091T>C | CA2664007989 | AGXT | c.680+29T>C (n.680+29T>C) n.333-1018T>C | gnomAD v4 |
2 | g.240874092G>A | CA2209191 | AGXT | c.680+30G>A (n.680+30G>A) n.333-1017G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874092G= | CA1339333619 | AGXT | c.680+30G= (n.680+30G=) n.333-1017G= | |
2 | g.240874092G>T | CA540536293 | AGXT | c.680+30G>T (n.680+30G>T) n.333-1017G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240874093C= | CA1339333620 | AGXT | c.680+31C= (n.680+31C=) n.333-1016C= | |
2 | g.240874093C>T | CA2209192 | AGXT | c.680+31C>T (n.680+31C>T) n.333-1016C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.240874095G>A | CA2664008036 | AGXT | c.680+33G>A (n.680+33G>A) n.333-1014G>A | gnomAD v4 |
2 | g.240874095G>C | CA2577302629 | AGXT | c.680+33G>C (n.680+33G>C) n.333-1014G>C | |
2 | g.240874096G>C | CA2664008038 | AGXT | c.680+34G>C (n.680+34G>C) n.333-1013G>C | gnomAD v4 |
2 | g.240874096_240874097insCCCA | CA2664008041 | AGXT | c.680+34_680+35insCCCA (n.680+34_680+35insCCCA) n.333-1013_333-1012insCCCA | gnomAD v4 |
2 | g.240874097G>A | CA766964405 | AGXT | c.680+35G>A (n.680+35G>A) n.333-1012G>A | dbSNP gnomAD v4 |
2 | g.240874097G>C | CA2664008042 | AGXT | c.680+35G>C (n.680+35G>C) n.333-1012G>C | gnomAD v4 |
2 | g.240874097G= | CA1339333621 | AGXT | c.680+35G= (n.680+35G=) n.333-1012G= | |
2 | g.240874097G>T | CA2664008044 | AGXT | c.680+35G>T (n.680+35G>T) n.333-1012G>T | gnomAD v4 |
2 | g.240874098C>A | CA2577302630 | AGXT | c.680+36C>A (n.680+36C>A) n.333-1011C>A | gnomAD v4 |
2 | g.240874098C>T | CA2577302631 | AGXT | c.680+36C>T (n.680+36C>T) n.333-1011C>T | gnomAD v4 |
2 | g.240874099T>C | CA2209193 | AGXT | c.680+37T>C (n.680+37T>C) n.333-1010T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240874099T>G | CA2664008073 | AGXT | c.680+37T>G (n.680+37T>G) n.333-1010T>G | gnomAD v4 |
2 | g.240874099T= | CA1339333622 | AGXT | c.680+37T= (n.680+37T=) n.333-1010T= | |
2 | g.240874099_240874102del | CA2664008071 | AGXT | c.680+37_680+40del (n.680+37_680+40del) n.333-1010_333-1007del | gnomAD v4 |
2 | g.240874101G>A | CA2209194 | AGXT | c.680+39G>A (n.680+39G>A) n.333-1008G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240874101G= | CA1339333623 | AGXT | c.680+39G= (n.680+39G=) n.333-1008G= | |
2 | g.240874101G>T | CA2664008078 | AGXT | c.680+39G>T (n.680+39G>T) n.333-1008G>T | gnomAD v4 |
2 | g.240874103C>A | CA2664008081 | AGXT | c.680+41C>A (n.680+41C>A) n.333-1006C>A | gnomAD v4 |
2 | g.240874103C= | CA1339333624 | AGXT | c.680+41C= (n.680+41C=) n.333-1006C= | |
2 | g.240874103C>T | CA540536294 | AGXT | c.680+41C>T (n.680+41C>T) n.333-1006C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874104T>C | CA2664008084 | AGXT | c.680+42T>C (n.680+42T>C) n.333-1005T>C | gnomAD v4 |
2 | g.240874105T>G | CA2664008085 | AGXT | c.680+43T>G (n.680+43T>G) n.333-1004T>G | gnomAD v4 |
2 | g.240874106G>A | CA2577302632 | AGXT | c.680+44G>A (n.680+44G>A) n.333-1003G>A | gnomAD v4 |
2 | g.240874106G= | CA1339333625 | AGXT | c.680+44G= (n.680+44G=) n.333-1003G= | |
2 | g.240874106G>T | CA540536295 | AGXT | c.680+44G>T (n.680+44G>T) n.333-1003G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240874107C>A | CA2664008090 | AGXT | c.680+45C>A (n.680+45C>A) n.333-1002C>A | gnomAD v4 |
2 | g.240874107C>G | CA432024274 | AGXT | c.680+45C>G (n.680+45C>G) n.333-1002C>G | |
2 | g.240874107C>T | CA2664008091 | AGXT | c.680+45C>T (n.680+45C>T) n.333-1002C>T | gnomAD v4 |
2 | g.240874108A>T | CA2664008092 | AGXT | c.680+46A>T (n.680+46A>T) n.333-1001A>T | gnomAD v4 |
2 | g.240874108_240874109delinsAG | CA1339333626 | AGXT | c.680+46_680+47delinsAG (n.680+46_680+47delinsAG) n.333-1001_333-1000delinsAG | |
2 | g.240874109G>C | CA2664008094 | AGXT | c.680+47G>C (n.680+47G>C) n.333-1000G>C | gnomAD v4 |
2 | g.240874109G>T | CA2664008093 | AGXT | c.680+47G>T (n.680+47G>T) n.333-1000G>T | gnomAD v4 |
2 | g.240874111del | CA2209195 | AGXT | c.680+49del (n.680+49del) n.333-998del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240874109_240874115del | CA2664008095 | AGXT | c.680+47_680+53del (n.680+47_680+53del) n.333-1000_333-994del | gnomAD v4 |
2 | g.240874110G>A | CA2664008097 | AGXT | c.680+48G>A (n.680+48G>A) n.333-999G>A | gnomAD v4 |
2 | g.240874110G>T | CA2664008096 | AGXT | c.680+48G>T (n.680+48G>T) n.333-999G>T | gnomAD v4 |
2 | g.240874111G>A | CA2577302633 | AGXT | c.680+49G>A (n.680+49G>A) n.333-998G>A | |
2 | g.240874111G= | CA1339333628 | AGXT | c.680+49G= (n.680+49G=) n.333-998G= | |
2 | g.240874111G>T | CA1339333627 | AGXT | c.680+49G>T (n.680+49G>T) n.333-998G>T | dbSNP |
2 | g.240874112A= | CA1339333629 | AGXT | c.680+50A= (n.680+50A=) n.333-997A= | |
2 | g.240874112A>G | CA2209196 | AGXT | c.680+50A>G (n.680+50A>G) n.333-997A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240874113G>T | CA2664008098 | AGXT | c.680+51G>T (n.680+51G>T) n.333-996G>T | gnomAD v4 |
2 | g.240874114C>A | CA2664008100 | AGXT | c.680+52C>A (n.680+52C>A) n.333-995C>A | gnomAD v4 |
2 | g.240874114C>G | CA2664008099 | AGXT | c.680+52C>G (n.680+52C>G) n.333-995C>G | gnomAD v4 |
2 | g.240874114C>T | CA2664008101 | AGXT | c.680+52C>T (n.680+52C>T) n.333-995C>T | gnomAD v4 |