Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50625929G>A | CA1026680549 | ARSA | c.1107+7C>T (n.1107+7C>T) c.849+7C>T (n.849+7C>T) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625929G= | CA2410958741 | ARSA | c.1107+7C= (n.1107+7C=) c.849+7C= (n.849+7C=) | |
22 | g.50625929G>T | CA2657591694 | ARSA | c.1107+7C>A (n.1107+7C>A) c.849+7C>A (n.849+7C>A) | gnomAD v4 |
22 | g.50625930C>A | CA2657591702 | ARSA | c.1107+6G>T (n.1107+6G>T) c.849+6G>T (n.849+6G>T) | gnomAD v4 |
22 | g.50625930C= | CA2410958742 | ARSA | c.1107+6G= (n.1107+6G=) c.849+6G= (n.849+6G=) | |
22 | g.50625930C>T | CA640358652 | ARSA | c.1107+6G>A (n.1107+6G>A) c.849+6G>A (n.849+6G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625932del | CA2657591701 | ARSA | c.1107+6del (n.1107+6del) c.849+6del (n.849+6del) | gnomAD v4 |
22 | g.50625931C>A | CA2657591705 | ARSA | c.1107+5G>T (n.1107+5G>T) c.849+5G>T (n.849+5G>T) | gnomAD v4 |
22 | g.50625931C>G | CA2657591708 | ARSA | c.1107+5G>C (n.1107+5G>C) c.849+5G>C (n.849+5G>C) | gnomAD v4 |
22 | g.50625931C>T | CA2657591709 | ARSA | c.1107+5G>A (n.1107+5G>A) c.849+5G>A (n.849+5G>A) | gnomAD v4 |
22 | g.50625932C>A | CA2657591713 | ARSA | c.1107+4G>T (n.1107+4G>T) c.849+4G>T (n.849+4G>T) | gnomAD v4 |
22 | g.50625932C= | CA2410958743 | ARSA | c.1107+4G= (n.1107+4G=) c.849+4G= (n.849+4G=) | |
22 | g.50625932C>T | CA640358653 | ARSA | c.1107+4G>A (n.1107+4G>A) c.849+4G>A (n.849+4G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625933T>C | CA2577767896 | ARSA | c.1107+3A>G (n.1107+3A>G) c.849+3A>G (n.849+3A>G) | |
22 | g.50625934A>C | CA412171075 | ARSA | c.1107+2T>G (n.1107+2T>G) c.849+2T>G (n.849+2T>G) | |
22 | g.50625934A>G | CA412171073 | ARSA | c.1107+2T>C (n.1107+2T>C) c.849+2T>C (n.849+2T>C) | |
22 | g.50625934A>T | CA412171074 | ARSA | c.1107+2T>A (n.1107+2T>A) c.849+2T>A (n.849+2T>A) | |
22 | g.50625934_50625935delinsAC | CA2410958744 | ARSA | c.1107+1_1107+2delinsGT (n.1107+1_1107+2delinsGT) c.849+1_849+2delinsGT (n.849+1_849+2delinsGT) | |
22 | g.50625935C>A | CA412171081 | ARSA | c.1107+1G>T (n.1107+1G>T) c.849+1G>T (n.849+1G>T) | ClinVar dbSNP gnomAD v4 |
22 | g.50625935C>G | CA412171099 | ARSA | c.1107+1G>C (n.1107+1G>C) c.849+1G>C (n.849+1G>C) | ClinVar |
22 | g.50625935C>T | CA412171105 | ARSA | c.1107+1G>A (n.1107+1G>A) c.849+1G>A (n.849+1G>A) | ClinVar dbSNP gnomAD v4 |
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) |