| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64758668G>A | CA6080314 | PYGM | c.280C>T (p.Arg94Trp) c.244-402C>T (n.244-402C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758668G>C | CA381111381 | PYGM | c.280C>G (p.Arg94Gly) c.244-402C>G (n.244-402C>G) | |
| 11 | g.64758668G= | CA1978928555 | PYGM | c.280C= (p.Arg94=) c.244-402C= (n.244-402C=) | |
| 11 | g.64758668G>T | CA474961161 | PYGM | c.280C>A (p.Arg94=) c.244-402C>A (n.244-402C>A) | |
| 11 | g.64758669T>A | CA474961163 | PYGM | c.279A>T (p.Gly93=) c.244-403A>T (n.244-403A>T) | gnomAD v4 |
| 11 | g.64758669T>C | CA474961165 | PYGM | c.279A>G (p.Gly93=) c.244-403A>G (n.244-403A>G) | |
| 11 | g.64758669T>G | CA474961166 | PYGM | c.279A>C (p.Gly93=) c.244-403A>C (n.244-403A>C) | dbSNP |
| 11 | g.64758670C>A | CA381111386 | PYGM | c.278G>T (p.Gly93Val) c.244-404G>T (n.244-404G>T) | ClinVar dbSNP |
| 11 | g.64758670C= | CA1978928558 | PYGM | c.278G= (p.Gly93=) c.244-404G= (n.244-404G=) | |
| 11 | g.64758670C>G | CA381111388 | PYGM | c.278G>C (p.Gly93Ala) c.244-404G>C (n.244-404G>C) | |
| 11 | g.64758670C>T | CA381111384 | PYGM | c.278G>A (p.Gly93Glu) c.244-404G>A (n.244-404G>A) | |
| 11 | g.64758671C>A | CA381111392 | PYGM | c.277G>T (p.Gly93Ter) c.244-405G>T (n.244-405G>T) | |
| 11 | g.64758671C>G | CA381111394 | PYGM | c.277G>C (p.Gly93Arg) c.244-405G>C (n.244-405G>C) | |
| 11 | g.64758671C>T | CA381111395 | PYGM | c.277G>A (p.Gly93Arg) c.244-405G>A (n.244-405G>A) | |
| 11 | g.64758672C>A | CA381111397 | PYGM | c.276G>T (p.Met92Ile) c.244-406G>T (n.244-406G>T) | gnomAD v4 |
| 11 | g.64758672C>G | CA381111400 | PYGM | c.276G>C (p.Met92Ile) c.244-406G>C (n.244-406G>C) | dbSNP |
| 11 | g.64758672C>T | CA381111412 | PYGM | c.276G>A (p.Met92Ile) c.244-406G>A (n.244-406G>A) | |
| 11 | g.64758673A>C | CA381111421 | PYGM | c.275T>G (p.Met92Arg) c.244-407T>G (n.244-407T>G) | |
| 11 | g.64758673A>G | CA381111415 | PYGM | c.275T>C (p.Met92Thr) c.244-407T>C (n.244-407T>C) | |
| 11 | g.64758673A>T | CA381111417 | PYGM | c.275T>A (p.Met92Lys) c.244-407T>A (n.244-407T>A) | |
| 11 | g.64758674T>A | CA381111422 | PYGM | c.274A>T (p.Met92Leu) c.244-408A>T (n.244-408A>T) | |
| 11 | g.64758674T>C | CA381111424 | PYGM | c.274A>G (p.Met92Val) c.244-408A>G (n.244-408A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758674T>G | CA381111428 | PYGM | c.274A>C (p.Met92Leu) c.244-408A>C (n.244-408A>C) | |
| 11 | g.64758674T= | CA1978928619 | PYGM | c.274A= (p.Met92=) c.244-408A= (n.244-408A=) | |
| 11 | g.64758675A= | CA1978928621 | PYGM | c.273T= (p.Tyr91=) c.244-409T= (n.244-409T=) | |
| 11 | g.64758675A>C | CA381111429 | PYGM | c.273T>G (p.Tyr91Ter) c.244-409T>G (n.244-409T>G) | |
| 11 | g.64758675A>G | CA474961179 | PYGM | c.273T>C (p.Tyr91=) c.244-409T>C (n.244-409T>C) | dbSNP |
| 11 | g.64758675A>T | CA381111430 | PYGM | c.273T>A (p.Tyr91Ter) c.244-409T>A (n.244-409T>A) | |
| 11 | g.64758676T>A | CA381111432 | PYGM | c.272A>T (p.Tyr91Phe) c.244-410A>T (n.244-410A>T) | dbSNP |
| 11 | g.64758676T>C | CA381111437 | PYGM | c.272A>G (p.Tyr91Cys) c.244-410A>G (n.244-410A>G) | gnomAD v4 |
| 11 | g.64758676T>G | CA381111433 | PYGM | c.272A>C (p.Tyr91Ser) c.244-410A>C (n.244-410A>C) | dbSNP |
| 11 | g.64758676T= | CA1978928623 | PYGM | c.272A= (p.Tyr91=) c.244-410A= (n.244-410A=) | |
| 11 | g.64758677A>C | CA381111441 | PYGM | c.271T>G (p.Tyr91Asp) c.244-411T>G (n.244-411T>G) | |
| 11 | g.64758677A>G | CA381111442 | PYGM | c.271T>C (p.Tyr91His) c.244-411T>C (n.244-411T>C) | |
| 11 | g.64758677A>T | CA381111443 | PYGM | c.271T>A (p.Tyr91Asn) c.244-411T>A (n.244-411T>A) | |
| 11 | g.64758678G>A | CA474961186 | PYGM | c.270C>T (p.Phe90=) c.244-412C>T (n.244-412C>T) | |
| 11 | g.64758678G>C | CA381111445 | PYGM | c.270C>G (p.Phe90Leu) c.244-412C>G (n.244-412C>G) | |
| 11 | g.64758678G>T | CA381111447 | PYGM | c.270C>A (p.Phe90Leu) c.244-412C>A (n.244-412C>A) | |
| 11 | g.64758679A>C | CA381111448 | PYGM | c.269T>G (p.Phe90Cys) c.244-413T>G (n.244-413T>G) | |
| 11 | g.64758679A>G | CA381111450 | PYGM | c.269T>C (p.Phe90Ser) c.244-413T>C (n.244-413T>C) | |
| 11 | g.64758679A>T | CA381111455 | PYGM | c.269T>A (p.Phe90Tyr) c.244-413T>A (n.244-413T>A) | |
| 11 | g.64758680A>C | CA381111457 | PYGM | c.268T>G (p.Phe90Val) c.244-414T>G (n.244-414T>G) | |
| 11 | g.64758680A>G | CA381111458 | PYGM | c.268T>C (p.Phe90Leu) c.244-414T>C (n.244-414T>C) | |
| 11 | g.64758680A>T | CA381111461 | PYGM | c.268T>A (p.Phe90Ile) c.244-414T>A (n.244-414T>A) | |
| 11 | g.64758681C>A | CA381111463 | PYGM | c.267G>T (p.Glu89Asp) c.244-415G>T (n.244-415G>T) | |
| 11 | g.64758681C>G | CA381111465 | PYGM | c.267G>C (p.Glu89Asp) c.244-415G>C (n.244-415G>C) | |
| 11 | g.64758681C>T | CA474961194 | PYGM | c.267G>A (p.Glu89=) c.244-415G>A (n.244-415G>A) | dbSNP gnomAD v4 |
| 11 | g.64758682T>A | CA381111470 | PYGM | c.266A>T (p.Glu89Val) c.244-416A>T (n.244-416A>T) | |
| 11 | g.64758682T>C | CA381111476 | PYGM | c.266A>G (p.Glu89Gly) c.244-416A>G (n.244-416A>G) | |
| 11 | g.64758682T>G | CA381111467 | PYGM | c.266A>C (p.Glu89Ala) c.244-416A>C (n.244-416A>C) |