| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80108386_80108456del | CA2695227076 | GAA | c.1052_1076-33del | |
| 17 | g.80108387G>A | CA294891845 | GAA | c.1053G>A (p.Val351=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80108387G>C | CA502402313 | GAA | c.1053G>C (p.Val351=) | |
| 17 | g.80108387G= | CA2277812704 | GAA | c.1053G= (p.Val351=) | |
| 17 | g.80108387G>T | CA8815134 | GAA | c.1053G>T (p.Val351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80108388C>A | CA401364751 | GAA | c.1054C>A (p.Gln352Lys) | ClinVar |
| 17 | g.80108388C= | CA2277812705 | GAA | c.1054C= (p.Gln352=) | |
| 17 | g.80108388C>G | CA401364752 | GAA | c.1054C>G (p.Gln352Glu) | |
| 17 | g.80108388C>T | CA294891876 | GAA | c.1054C>T (p.Gln352Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80108389A>C | CA401364755 | GAA | c.1055A>C (p.Gln352Pro) | gnomAD v4 |
| 17 | g.80108389A>G | CA401364758 | GAA | c.1055A>G (p.Gln352Arg) | |
| 17 | g.80108389A>T | CA401364756 | GAA | c.1055A>T (p.Gln352Leu) | |
| 17 | g.80108390G>A | CA502402314 | GAA | c.1056G>A (p.Gln352=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80108390G>C | CA401364759 | GAA | c.1056G>C (p.Gln352His) | |
| 17 | g.80108390G= | CA2277812706 | GAA | c.1056G= (p.Gln352=) | |
| 17 | g.80108390G>T | CA401364760 | GAA | c.1056G>T (p.Gln352His) | |
| 17 | g.80108391del | CA891862619 | GAA | c.1057del (p.Gln353SerfsTer?) | ClinVar dbSNP |
| 17 | g.80108391C>A | CA401364763 | GAA | c.1057C>A (p.Gln353Lys) | |
| 17 | g.80108391C>G | CA401364765 | GAA | c.1057C>G (p.Gln353Glu) | |
| 17 | g.80108391C>T | CA401364766 | GAA | c.1057C>T (p.Gln353Ter) | |
| 17 | g.80108392A= | CA2277812707 | GAA | c.1058A= (p.Gln353=) | |
| 17 | g.80108392A>C | CA401364769 | GAA | c.1058A>C (p.Gln353Pro) | |
| 17 | g.80108392A>G | CA8815135 | GAA | c.1058A>G (p.Gln353Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80108392A>T | CA401364771 | GAA | c.1058A>T (p.Gln353Leu) | |
| 17 | g.80108393G>A | CA294891888 | GAA | c.1059G>A (p.Gln353=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80108393G>C | CA401364773 | GAA | c.1059G>C (p.Gln353His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80108393G= | CA2277812708 | GAA | c.1059G= (p.Gln353=) | |
| 17 | g.80108393G>T | CA401364775 | GAA | c.1059G>T (p.Gln353His) | |
| 17 | g.80108394T>A | CA401364777 | GAA | c.1060T>A (p.Tyr354Asn) | |
| 17 | g.80108394T>C | CA401364781 | GAA | c.1060T>C (p.Tyr354His) | |
| 17 | g.80108394T>G | CA401364779 | GAA | c.1060T>G (p.Tyr354Asp) | |
| 17 | g.80108395A= | CA2277812709 | GAA | c.1061A= (p.Tyr354=) | |
| 17 | g.80108395A>C | CA401364783 | GAA | c.1061A>C (p.Tyr354Ser) | dbSNP |
| 17 | g.80108395A>G | CA401364785 | GAA | c.1061A>G (p.Tyr354Cys) | |
| 17 | g.80108395A>T | CA401364786 | GAA | c.1061A>T (p.Tyr354Phe) | gnomAD v4 |
| 17 | g.80108396C>A | CA16620645 | GAA | c.1062C>A (p.Tyr354Ter) | ClinVar dbSNP |
| 17 | g.80108396C= | CA2277812710 | GAA | c.1062C= (p.Tyr354=) | |
| 17 | g.80108396C>G | CA401364789 | GAA | c.1062C>G (p.Tyr354Ter) | |
| 17 | g.80108396C>T | CA502402325 | GAA | c.1062C>T (p.Tyr354=) | ClinVar dbSNP |
| 17 | g.80108397C>A | CA401364791 | GAA | c.1063C>A (p.Leu355Met) | |
| 17 | g.80108397C>G | CA401364792 | GAA | c.1063C>G (p.Leu355Val) | |
| 17 | g.80108397C>T | CA502402327 | GAA | c.1063C>T (p.Leu355=) | |
| 17 | g.80108398T>A | CA401364793 | GAA | c.1064T>A (p.Leu355Gln) | |
| 17 | g.80108398T>C | CA8815136 | GAA | c.1064T>C (p.Leu355Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80108398T>G | CA401364795 | GAA | c.1064T>G (p.Leu355Arg) | dbSNP gnomAD v4 |
| 17 | g.80108398T= | CA2277812711 | GAA | c.1064T= (p.Leu355=) | |
| 17 | g.80108399G>A | CA502402332 | GAA | c.1065G>A (p.Leu355=) | ClinVar dbSNP |
| 17 | g.80108399G>C | CA502402328 | GAA | c.1065G>C (p.Leu355=) | |
| 17 | g.80108399G>T | CA502402329 | GAA | c.1065G>T (p.Leu355=) | |
| 17 | g.80108400G>A | CA401364801 | GAA | c.1066G>A (p.Asp356Asn) |