| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625936del | CA16042035 | ARSA | c.1107+1del c.849+1del | ClinVar dbSNP |
| 22 | g.50625936C>A | CA412171118 | ARSA | c.1107G>T (p.Lys369Asn) c.849G>T (p.Lys283Asn) | gnomAD v4 |
| 22 | g.50625936C= | CA2410958745 | ARSA | c.1107G= (p.Lys369=) c.849G= (p.Lys283=) | |
| 22 | g.50625936C>G | CA218980 | ARSA | c.1107G>C (p.Lys369Asn) c.849G>C (p.Lys283Asn) | ClinVar dbSNP |
| 22 | g.50625936C>T | CA515248818 | ARSA | c.1107G>A (p.Lys369=) c.849G>A (p.Lys283=) | gnomAD v4 |
| 22 | g.50625937T>A | CA412171129 | ARSA | c.1106A>T (p.Lys369Met) c.848A>T (p.Lys283Met) | gnomAD v4 |
| 22 | g.50625937T>C | CA412171132 | ARSA | c.1106A>G (p.Lys369Arg) c.848A>G (p.Lys283Arg) | |
| 22 | g.50625937T>G | CA10324832 | ARSA | c.1106A>C (p.Lys369Thr) c.848A>C (p.Lys283Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625937T= | CA2410958746 | ARSA | c.1106A= (p.Lys369=) c.848A= (p.Lys283=) | |
| 22 | g.50625938T>A | CA412171144 | ARSA | c.1105A>T (p.Lys369Ter) c.847A>T (p.Lys283Ter) | |
| 22 | g.50625938T>C | CA412171141 | ARSA | c.1105A>G (p.Lys369Glu) c.847A>G (p.Lys283Glu) | |
| 22 | g.50625938T>G | CA412171138 | ARSA | c.1105A>C (p.Lys369Gln) c.847A>C (p.Lys283Gln) | |
| 22 | g.50625939G>A | CA515248819 | ARSA | c.1104C>T (p.Gly368=) c.846C>T (p.Gly282=) | |
| 22 | g.50625939G>C | CA515248820 | ARSA | c.1104C>G (p.Gly368=) c.846C>G (p.Gly282=) | |
| 22 | g.50625939G>T | CA515248821 | ARSA | c.1104C>A (p.Gly368=) c.846C>A (p.Gly282=) | gnomAD v4 |
| 22 | g.50625940C>A | CA412171171 | ARSA | c.1103G>T (p.Gly368Val) c.845G>T (p.Gly282Val) | gnomAD v4 |
| 22 | g.50625940C>G | CA412171176 | ARSA | c.1103G>C (p.Gly368Ala) c.845G>C (p.Gly282Ala) | |
| 22 | g.50625940C>T | CA412171191 | ARSA | c.1103G>A (p.Gly368Asp) c.845G>A (p.Gly282Asp) | gnomAD v4 |
| 22 | g.50625941C>A | CA412171194 | ARSA | c.1102G>T (p.Gly368Cys) c.844G>T (p.Gly282Cys) | gnomAD v4 |
| 22 | g.50625941C= | CA2410958747 | ARSA | c.1102G= (p.Gly368=) c.844G= (p.Gly282=) | |
| 22 | g.50625941C>G | CA412171200 | ARSA | c.1102G>C (p.Gly368Arg) c.844G>C (p.Gly282Arg) | |
| 22 | g.50625941C>T | CA412171207 | ARSA | c.1102G>A (p.Gly368Ser) c.844G>A (p.Gly282Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625942T>A | CA515248824 | ARSA | c.1101A>T (p.Thr367=) c.843A>T (p.Thr281=) | gnomAD v4 |
| 22 | g.50625942T>C | CA515248823 | ARSA | c.1101A>G (p.Thr367=) c.843A>G (p.Thr281=) | gnomAD v4 |
| 22 | g.50625942T>G | CA515248822 | ARSA | c.1101A>C (p.Thr367=) c.843A>C (p.Thr281=) | |
| 22 | g.50625943G>A | CA412171214 | ARSA | c.1100C>T (p.Thr367Ile) c.842C>T (p.Thr281Ile) | gnomAD v4 |
| 22 | g.50625943G>C | CA412171217 | ARSA | c.1100C>G (p.Thr367Arg) c.842C>G (p.Thr281Arg) | dbSNP gnomAD v2 |
| 22 | g.50625943G= | CA2410958748 | ARSA | c.1100C= (p.Thr367=) c.842C= (p.Thr281=) | |
| 22 | g.50625943G>T | CA412171219 | ARSA | c.1100C>A (p.Thr367Lys) c.842C>A (p.Thr281Lys) | |
| 22 | g.50625944T>A | CA412171225 | ARSA | c.1099A>T (p.Thr367Ser) c.841A>T (p.Thr281Ser) | gnomAD v4 |
| 22 | g.50625944T>C | CA412171226 | ARSA | c.1099A>G (p.Thr367Ala) c.841A>G (p.Thr281Ala) | dbSNP gnomAD v4 |
| 22 | g.50625944T>G | CA412171227 | ARSA | c.1099A>C (p.Thr367Pro) c.841A>C (p.Thr281Pro) | |
| 22 | g.50625944T= | CA2410958749 | ARSA | c.1099A= (p.Thr367=) c.841A= (p.Thr281=) | |
| 22 | g.50625945G>A | CA515248825 | ARSA | c.1098C>T (p.Gly366=) c.840C>T (p.Gly280=) | gnomAD v4 |
| 22 | g.50625945G>C | CA515248826 | ARSA | c.1098C>G (p.Gly366=) c.840C>G (p.Gly280=) | |
| 22 | g.50625945G>T | CA515248827 | ARSA | c.1098C>A (p.Gly366=) c.840C>A (p.Gly280=) | gnomAD v4 |
| 22 | g.50625946C>A | CA412171255 | ARSA | c.1097G>T (p.Gly366Val) c.839G>T (p.Gly280Val) | gnomAD v4 |
| 22 | g.50625946C= | CA2410958750 | ARSA | c.1097G= (p.Gly366=) c.839G= (p.Gly280=) | |
| 22 | g.50625946C>G | CA412171244 | ARSA | c.1097G>C (p.Gly366Ala) c.839G>C (p.Gly280Ala) | gnomAD v4 |
| 22 | g.50625946C>T | CA412171239 | ARSA | c.1097G>A (p.Gly366Asp) c.839G>A (p.Gly280Asp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50625947C>A | CA412171257 | ARSA | c.1096G>T (p.Gly366Cys) c.838G>T (p.Gly280Cys) | gnomAD v4 |
| 22 | g.50625947C>G | CA412171259 | ARSA | c.1096G>C (p.Gly366Arg) c.838G>C (p.Gly280Arg) | |
| 22 | g.50625947C>T | CA412171262 | ARSA | c.1096G>A (p.Gly366Ser) c.838G>A (p.Gly280Ser) | gnomAD v4 COSMIC |
| 22 | g.50625948C>A | CA515248828 | ARSA | c.1095G>T (p.Leu365=) c.837G>T (p.Leu279=) | gnomAD v4 |
| 22 | g.50625948C= | CA2410958751 | ARSA | c.1095G= (p.Leu365=) c.837G= (p.Leu279=) | |
| 22 | g.50625948C>G | CA515248829 | ARSA | c.1095G>C (p.Leu365=) c.837G>C (p.Leu279=) | |
| 22 | g.50625948C>T | CA10324833 | ARSA | c.1095G>A (p.Leu365=) c.837G>A (p.Leu279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625949A>C | CA412171279 | ARSA | c.1094T>G (p.Leu365Arg) c.836T>G (p.Leu279Arg) | |
| 22 | g.50625949A>G | CA412171285 | ARSA | c.1094T>C (p.Leu365Pro) c.836T>C (p.Leu279Pro) | gnomAD v4 |
| 22 | g.50625949A>T | CA412171291 | ARSA | c.1094T>A (p.Leu365Gln) c.836T>A (p.Leu279Gln) | gnomAD v4 |