| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64758686_64758697delinsAAGACAGGTAGT | CA1978928633 | PYGM | c.251_262delinsACTACCTGTCTT (p.Tyr84=) c.244-431_244-420delinsACTACCTGTCTT (n.244-431_244-420delinsACTACCTGTCTT) | |
| 11 | g.64758690_64758700del | CA16041503 | PYGM | c.251_261del (p.Tyr84PhefsTer23) c.244-431_244-421del (n.244-431_244-421del) | ClinVar dbSNP |
| 11 | g.64758689_64758709delinsACAGGTAGTAGATCCTCTGCC | CA1978928637 | PYGM | c.244-5_259delinsGGCAGAGGATCTACTACCTGT c.244-443_244-423delinsGGCAGAGGATCTACTACCTGT (n.244-443_244-423delinsGGCAGAGGATCTACTACCTGT) | |
| 11 | g.64758693_64758712del | CA6080316 | PYGM | c.244-5_258del c.244-443_244-424del (n.244-443_244-424del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64758693_64758696del | CA2573053536 | PYGM | c.254_257del (p.Tyr85CysfsTer3) c.244-428_244-425del (n.244-428_244-425del) | ClinVar dbSNP |
| 11 | g.64758693G>A | CA474961228 | PYGM | c.255C>T (p.Tyr85=) c.244-427C>T (n.244-427C>T) | |
| 11 | g.64758693G>C | CA381111569 | PYGM | c.255C>G (p.Tyr85Ter) c.244-427C>G (n.244-427C>G) | |
| 11 | g.64758693G= | CA1978928643 | PYGM | c.255C= (p.Tyr85=) c.244-427C= (n.244-427C=) | |
| 11 | g.64758693G>T | CA345696 | PYGM | c.255C>A (p.Tyr85Ter) c.244-427C>A (n.244-427C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64758694T>A | CA381111573 | PYGM | c.254A>T (p.Tyr85Phe) c.244-428A>T (n.244-428A>T) | |
| 11 | g.64758694T>C | CA381111574 | PYGM | c.254A>G (p.Tyr85Cys) c.244-428A>G (n.244-428A>G) | |
| 11 | g.64758694T>G | CA381111575 | PYGM | c.254A>C (p.Tyr85Ser) c.244-428A>C (n.244-428A>C) | |
| 11 | g.64758694_64758695delinsTA | CA1978928647 | PYGM | c.253_254delinsTA (p.Tyr85=) c.244-429_244-428delinsTA (n.244-429_244-428delinsTA) | |
| 11 | g.64758695del | CA16041504 | PYGM | c.253del (p.Tyr85ThrfsTer4) c.244-429del (n.244-429del) | ClinVar dbSNP |
| 11 | g.64758695A= | CA1978928650 | PYGM | c.253T= (p.Tyr85=) c.244-429T= (n.244-429T=) | |
| 11 | g.64758695A>C | CA381111579 | PYGM | c.253T>G (p.Tyr85Asp) c.244-429T>G (n.244-429T>G) | gnomAD v4 |
| 11 | g.64758695A>G | CA6080318 | PYGM | c.253T>C (p.Tyr85His) c.244-429T>C (n.244-429T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64758695A>T | CA381111581 | PYGM | c.253T>A (p.Tyr85Asn) c.244-429T>A (n.244-429T>A) | gnomAD v4 |
| 11 | g.64758696G>A | CA474961237 | PYGM | c.252C>T (p.Tyr84=) c.244-430C>T (n.244-430C>T) | |
| 11 | g.64758696G>C | CA16041505 | PYGM | c.252C>G (p.Tyr84Ter) c.244-430C>G (n.244-430C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758696G= | CA1978928654 | PYGM | c.252C= (p.Tyr84=) c.244-430C= (n.244-430C=) | |
| 11 | g.64758696G>T | CA381111586 | PYGM | c.252C>A (p.Tyr84Ter) c.244-430C>A (n.244-430C>A) | |
| 11 | g.64758697T>A | CA381111589 | PYGM | c.251A>T (p.Tyr84Phe) c.244-431A>T (n.244-431A>T) | |
| 11 | g.64758697T>C | CA6080319 | PYGM | c.251A>G (p.Tyr84Cys) c.244-431A>G (n.244-431A>G) | dbSNP ExAC gnomAD v2 |
| 11 | g.64758697T>G | CA381111590 | PYGM | c.251A>C (p.Tyr84Ser) c.244-431A>C (n.244-431A>C) | gnomAD v4 |
| 11 | g.64758697T= | CA1978928657 | PYGM | c.251A= (p.Tyr84=) c.244-431A= (n.244-431A=) | |
| 11 | g.64758698A= | CA1978928659 | PYGM | c.250T= (p.Tyr84=) c.244-432T= (n.244-432T=) | |
| 11 | g.64758698A>C | CA381111591 | PYGM | c.250T>G (p.Tyr84Asp) c.244-432T>G (n.244-432T>G) | |
| 11 | g.64758698A>G | CA381111592 | PYGM | c.250T>C (p.Tyr84His) c.244-432T>C (n.244-432T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64758698A>T | CA381111593 | PYGM | c.250T>A (p.Tyr84Asn) c.244-432T>A (n.244-432T>A) | gnomAD v4 |
| 11 | g.64758699G>A | CA474961245 | PYGM | c.249C>T (p.Ile83=) c.244-433C>T (n.244-433C>T) | gnomAD v4 |
| 11 | g.64758699G>C | CA381111594 | PYGM | c.249C>G (p.Ile83Met) c.244-433C>G (n.244-433C>G) | |
| 11 | g.64758699G>T | CA474961247 | PYGM | c.249C>A (p.Ile83=) c.244-433C>A (n.244-433C>A) | gnomAD v4 |
| 11 | g.64758700A>C | CA381111596 | PYGM | c.248T>G (p.Ile83Ser) c.244-434T>G (n.244-434T>G) | |
| 11 | g.64758700A>G | CA381111598 | PYGM | c.248T>C (p.Ile83Thr) c.244-434T>C (n.244-434T>C) | |
| 11 | g.64758700A>T | CA381111599 | PYGM | c.248T>A (p.Ile83Asn) c.244-434T>A (n.244-434T>A) | |
| 11 | g.64758701T>A | CA6080320 | PYGM | c.247A>T (p.Ile83Phe) c.244-435A>T (n.244-435A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758701T>C | CA381111600 | PYGM | c.247A>G (p.Ile83Val) c.244-435A>G (n.244-435A>G) | |
| 11 | g.64758701T>G | CA381111601 | PYGM | c.247A>C (p.Ile83Leu) c.244-435A>C (n.244-435A>C) | |
| 11 | g.64758701T= | CA1978928661 | PYGM | c.247A= (p.Ile83=) c.244-435A= (n.244-435A=) | |
| 11 | g.64758702C>A | CA381111604 | PYGM | c.246G>T (p.Arg82Ser) c.244-436G>T (n.244-436G>T) | gnomAD v4 |
| 11 | g.64758702C>G | CA381111605 | PYGM | c.246G>C (p.Arg82Ser) c.244-436G>C (n.244-436G>C) | |
| 11 | g.64758702C>T | CA474961253 | PYGM | c.246G>A (p.Arg82=) c.244-436G>A (n.244-436G>A) | gnomAD v4 |
| 11 | g.64758703C>A | CA381111610 | PYGM | c.245G>T (p.Arg82Met) c.244-437G>T (n.244-437G>T) | |
| 11 | g.64758703C>G | CA381111614 | PYGM | c.245G>C (p.Arg82Thr) c.244-437G>C (n.244-437G>C) | |
| 11 | g.64758703C>T | CA381111617 | PYGM | c.245G>A (p.Arg82Lys) c.244-437G>A (n.244-437G>A) | COSMIC |
| 11 | g.64758704T>A | CA381111621 | PYGM | c.244A>T (p.Arg82Trp) c.244-438A>T (n.244-438A>T) | |
| 11 | g.64758704T>C | CA381111623 | PYGM | c.244A>G (p.Arg82Gly) c.244-438A>G (n.244-438A>G) | gnomAD v4 |
| 11 | g.64758704T>G | CA474961257 | PYGM | c.244A>C (p.Arg82=) c.244-438A>C (n.244-438A>C) | |
| 11 | g.64758705C>A | CA381111629 | PYGM | c.244-1G>T (n.244-1G>T) c.244-439G>T (n.244-439G>T) |