Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.127854274_127854295del | CA2739264799 | ENG | c.65_67+19del | ClinVar |
9 | g.127854277_127854285del | CA2573053097 | ENG | c.67+6_67+14del (n.67+6_67+14del) | ClinVar dbSNP |
9 | g.127854278T>C | CA2691810571 | ENG | c.67+11A>G (n.67+11A>G) | gnomAD v4 |
9 | g.127854278T>G | CA2691810572 | ENG | c.67+11A>C (n.67+11A>C) | gnomAD v4 |
9 | g.127854279G>A | CA590606724 | ENG | c.67+10C>T (n.67+10C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127854279G>C | CA2691810573 | ENG | c.67+10C>G (n.67+10C>G) | gnomAD v4 |
9 | g.127854279G= | CA1879998631 | ENG | c.67+10C= (n.67+10C=) | |
9 | g.127854279G>T | CA2579461537 | ENG | c.67+10C>A (n.67+10C>A) | gnomAD v4 |
9 | g.127854282C>A | CA2691810574 | ENG | c.67+7G>T (n.67+7G>T) | gnomAD v4 |
9 | g.127854282C= | CA1879998634 | ENG | c.67+7G= (n.67+7G=) | |
9 | g.127854282C>T | CA590606725 | ENG | c.67+7G>A (n.67+7G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854283A>G | CA2691810575 | ENG | c.67+6T>C (n.67+6T>C) | gnomAD v4 |
9 | g.127854283A>T | CA2691810576 | ENG | c.67+6T>A (n.67+6T>A) | gnomAD v4 |
9 | g.127854284C>A | CA2691810577 | ENG | c.67+5G>T (n.67+5G>T) | ClinVar gnomAD v4 |
9 | g.127854284C= | CA1879998638 | ENG | c.67+5G= (n.67+5G=) | |
9 | g.127854284C>T | CA238556 | ENG | c.67+5G>A (n.67+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127854285C= | CA1879998642 | ENG | c.67+4G= (n.67+4G=) | |
9 | g.127854285C>T | CA860211935 | ENG | c.67+4G>A (n.67+4G>A) | ClinVar dbSNP gnomAD v4 |
9 | g.127854286T>A | CA2691810578 | ENG | c.67+3A>T (n.67+3A>T) | gnomAD v4 |
9 | g.127854286T>C | CA2691810579 | ENG | c.67+3A>G (n.67+3A>G) | gnomAD v4 |
9 | g.127854287A>C | CA374989485 | ENG | c.67+2T>G (n.67+2T>G) | |
9 | g.127854287A>G | CA374989483 | ENG | c.67+2T>C (n.67+2T>C) | ClinVar dbSNP gnomAD v4 |
9 | g.127854287A>T | CA374989481 | ENG | c.67+2T>A (n.67+2T>A) | |
9 | g.127854288C>A | CA374989487 | ENG | c.67+1G>T (n.67+1G>T) | gnomAD v4 |
9 | g.127854288C= | CA1879998651 | ENG | c.67+1G= (n.67+1G=) | |
9 | g.127854288C>G | CA374989489 | ENG | c.67+1G>C (n.67+1G>C) | |
9 | g.127854288C>T | CA374989490 | ENG | c.67+1G>A (n.67+1G>A) | ClinVar dbSNP gnomAD v4 |
9 | g.127854288_127854289delinsCT | CA1879998650 | ENG | c.67_67+1delinsAG | |
9 | g.127854289T>A | CA374989492 | ENG | c.67A>T (p.Ser23Cys) | gnomAD v4 |
9 | g.127854289T>C | CA374989494 | ENG | c.67A>G (p.Ser23Gly) | gnomAD v4 |
9 | g.127854289T>G | CA374989496 | ENG | c.67A>C (p.Ser23Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854289T= | CA1879998661 | ENG | c.67A= (p.Ser23=) | |
9 | g.127854290del | CA10582617 | ENG | c.67del (p.Ser23ValfsTer20) | ClinVar dbSNP |
9 | g.127854290T>A | CA467235197 | ENG | c.66A>T (p.Thr22=) | gnomAD v4 |
9 | g.127854290T>C | CA467235198 | ENG | c.66A>G (p.Thr22=) | |
9 | g.127854290T>G | CA467235199 | ENG | c.66A>C (p.Thr22=) | |
9 | g.127854292_127854293del | CA2739291271 | ENG | c.65_66del (p.Thr22LysfsTer9) | |
9 | g.127854291G>A | CA374989497 | ENG | c.65C>T (p.Thr22Ile) | gnomAD v4 |
9 | g.127854291G>C | CA374989499 | ENG | c.65C>G (p.Thr22Arg) | |
9 | g.127854291G>T | CA374989501 | ENG | c.65C>A (p.Thr22Lys) | gnomAD v4 |
9 | g.127854292T>A | CA374989503 | ENG | c.64A>T (p.Thr22Ser) | gnomAD v4 |
9 | g.127854292T>C | CA5253260 | ENG | c.64A>G (p.Thr22Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127854292T>G | CA374989505 | ENG | c.64A>C (p.Thr22Pro) | |
9 | g.127854292T= | CA1879998666 | ENG | c.64A= (p.Thr22=) | |
9 | g.127854293G>A | CA467235200 | ENG | c.63C>T (p.Pro21=) | gnomAD v4 |
9 | g.127854293G>C | CA467235201 | ENG | c.63C>G (p.Pro21=) | gnomAD v4 |
9 | g.127854293G>T | CA467235202 | ENG | c.63C>A (p.Pro21=) | gnomAD v4 |
9 | g.127854296dup | CA1139661232 | ENG | c.63dup (p.Thr22HisfsTer10) | ClinVar dbSNP |
9 | g.127854296del | CA2580079580 | ENG | c.63del (p.Thr22GlnfsTer21) | ClinVar |
9 | g.127854294G>A | CA374989509 | ENG | c.62C>T (p.Pro21Leu) |