UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.80276287A>G | CA2609913643 | MAT1A | c.768+89T>C (n.768+89T>C) c.645+89T>C (n.645+89T>C) | gnomAD v4 |
| 10 | g.80276288G>A | CA2609913644 | MAT1A | c.768+88C>T (n.768+88C>T) c.645+88C>T (n.645+88C>T) | gnomAD v4 |
| 10 | g.80276288G>T | CA2574455545 | MAT1A | c.768+88C>A (n.768+88C>A) c.645+88C>A (n.645+88C>A) | gnomAD v4 |
| 10 | g.80276289C>A | CA2609913645 | MAT1A | c.768+87G>T (n.768+87G>T) c.645+87G>T (n.645+87G>T) | gnomAD v4 |
| 10 | g.80276290T>C | CA2609913646 | MAT1A | c.768+86A>G (n.768+86A>G) c.645+86A>G (n.645+86A>G) | gnomAD v4 |
| 10 | g.80276292T>C | CA2788703109 | MAT1A | c.768+84A>G (n.768+84A>G) c.645+84A>G (n.645+84A>G) | |
| 10 | g.80276293C>G | CA2609913647 | MAT1A | c.768+83G>C (n.768+83G>C) c.645+83G>C (n.645+83G>C) | gnomAD v4 |
| 10 | g.80276294T>C | CA2574455547 | MAT1A | c.768+82A>G (n.768+82A>G) c.645+82A>G (n.645+82A>G) | |
| 10 | g.80276296T>C | CA2574455552 | MAT1A | c.768+80A>G (n.768+80A>G) c.645+80A>G (n.645+80A>G) | gnomAD v4 |
| 10 | g.80276298G>T | CA2609913648 | MAT1A | c.768+78C>A (n.768+78C>A) c.645+78C>A (n.645+78C>A) | gnomAD v4 |
| 10 | g.80276299A>T | CA2574455553 | MAT1A | c.768+77T>A (n.768+77T>A) c.645+77T>A (n.645+77T>A) | |
| 10 | g.80276300G>A | CA210323517 | MAT1A | c.768+76C>T (n.768+76C>T) c.645+76C>T (n.645+76C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80276300G= | CA1922574420 | MAT1A | c.768+76C= (n.768+76C=) c.645+76C= (n.645+76C=) | |
| 10 | g.80276300G>T | CA2574455555 | MAT1A | c.768+76C>A (n.768+76C>A) c.645+76C>A (n.645+76C>A) | gnomAD v4 |
| 10 | g.80276303T>C | CA2609913649 | MAT1A | c.768+73A>G (n.768+73A>G) c.645+73A>G (n.645+73A>G) | gnomAD v4 |
| 10 | g.80276305T>A | CA2609913651 | MAT1A | c.768+71A>T (n.768+71A>T) c.645+71A>T (n.645+71A>T) | gnomAD v4 |
| 10 | g.80276305T>C | CA2609913650 | MAT1A | c.768+71A>G (n.768+71A>G) c.645+71A>G (n.645+71A>G) | gnomAD v4 |
| 10 | g.80276305T>G | CA2609913652 | MAT1A | c.768+71A>C (n.768+71A>C) c.645+71A>C (n.645+71A>C) | gnomAD v4 |
| 10 | g.80276306C>T | CA2609913653 | MAT1A | c.768+70G>A (n.768+70G>A) c.645+70G>A (n.645+70G>A) | gnomAD v4 |
| 10 | g.80276308T>C | CA2609913654 | MAT1A | c.768+68A>G (n.768+68A>G) c.645+68A>G (n.645+68A>G) | gnomAD v4 |
| 10 | g.80276309G>T | CA2574455558 | MAT1A | c.768+67C>A (n.768+67C>A) c.645+67C>A (n.645+67C>A) | gnomAD v4 |
| 10 | g.80276310C>T | CA2574455560 | MAT1A | c.768+66G>A (n.768+66G>A) c.645+66G>A (n.645+66G>A) | gnomAD v4 |
| 10 | g.80276312C= | CA1922574423 | MAT1A | c.768+64G= (n.768+64G=) c.645+64G= (n.645+64G=) | |
| 10 | g.80276312C>G | CA2609913655 | MAT1A | c.768+64G>C (n.768+64G>C) c.645+64G>C (n.645+64G>C) | gnomAD v4 |
| 10 | g.80276312C>T | CA1922574424 | MAT1A | c.768+64G>A (n.768+64G>A) c.645+64G>A (n.645+64G>A) | dbSNP |
| 10 | g.80276314G>A | CA210323524 | MAT1A | c.768+62C>T (n.768+62C>T) c.645+62C>T (n.645+62C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276314G= | CA1922574425 | MAT1A | c.768+62C= (n.768+62C=) c.645+62C= (n.645+62C=) | |
| 10 | g.80276314G>T | CA2609913656 | MAT1A | c.768+62C>A (n.768+62C>A) c.645+62C>A (n.645+62C>A) | gnomAD v4 |
| 10 | g.80276315A>C | CA653620336 | MAT1A | c.768+61T>G (n.768+61T>G) c.645+61T>G (n.645+61T>G) | COSMIC |
| 10 | g.80276315A>G | CA2609913657 | MAT1A | c.768+61T>C (n.768+61T>C) c.645+61T>C (n.645+61T>C) | gnomAD v4 |
| 10 | g.80276316G>A | CA2609913658 | MAT1A | c.768+60C>T (n.768+60C>T) c.645+60C>T (n.645+60C>T) | gnomAD v4 |
| 10 | g.80276318C>T | CA2609913659 | MAT1A | c.768+58G>A (n.768+58G>A) c.645+58G>A (n.645+58G>A) | gnomAD v4 |
| 10 | g.80276320T>C | CA2574455563 | MAT1A | c.768+56A>G (n.768+56A>G) c.645+56A>G (n.645+56A>G) | gnomAD v4 |
| 10 | g.80276321A>G | CA2609913660 | MAT1A | c.768+55T>C (n.768+55T>C) c.645+55T>C (n.645+55T>C) | gnomAD v4 |
| 10 | g.80276321A>T | CA2574455565 | MAT1A | c.768+55T>A (n.768+55T>A) c.645+55T>A (n.645+55T>A) | |
| 10 | g.80276324C= | CA1922574427 | MAT1A | c.768+52G= (n.768+52G=) c.645+52G= (n.645+52G=) | |
| 10 | g.80276324C>T | CA668886134 | MAT1A | c.768+52G>A (n.768+52G>A) c.645+52G>A (n.645+52G>A) | dbSNP gnomAD v4 |
| 10 | g.80276325A= | CA1922574429 | MAT1A | c.768+51T= (n.768+51T=) c.645+51T= (n.645+51T=) | |
| 10 | g.80276325A>T | CA594711873 | MAT1A | c.768+51T>A (n.768+51T>A) c.645+51T>A (n.645+51T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80276327C= | CA1922574431 | MAT1A | c.768+49G= (n.768+49G=) c.645+49G= (n.645+49G=) | |
| 10 | g.80276327C>T | CA5576709 | MAT1A | c.768+49G>A (n.768+49G>A) c.645+49G>A (n.645+49G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276328C>T | CA2574455568 | MAT1A | c.768+48G>A (n.768+48G>A) c.645+48G>A (n.645+48G>A) | |
| 10 | g.80276329C>A | CA5576710 | MAT1A | c.768+47G>T (n.768+47G>T) c.645+47G>T (n.645+47G>T) | dbSNP ExAC gnomAD v2 |
| 10 | g.80276329C= | CA1922574432 | MAT1A | c.768+47G= (n.768+47G=) c.645+47G= (n.645+47G=) | |
| 10 | g.80276330C= | CA1922574433 | MAT1A | c.768+46G= (n.768+46G=) c.645+46G= (n.645+46G=) | |
| 10 | g.80276330C>T | CA5576711 | MAT1A | c.768+46G>A (n.768+46G>A) c.645+46G>A (n.645+46G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276331A= | CA1922574435 | MAT1A | c.768+45T= (n.768+45T=) c.645+45T= (n.645+45T=) | |
| 10 | g.80276331A>C | CA2574455573 | MAT1A | c.768+45T>G (n.768+45T>G) c.645+45T>G (n.645+45T>G) | |
| 10 | g.80276331A>G | CA5576712 | MAT1A | c.768+45T>C (n.768+45T>C) c.645+45T>C (n.645+45T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80276331A>T | CA594711874 | MAT1A | c.768+45T>A (n.768+45T>A) c.645+45T>A (n.645+45T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80276332G>A | CA2609913661 | MAT1A | c.768+44C>T (n.768+44C>T) c.645+44C>T (n.645+44C>T) | gnomAD v4 |
| 10 | g.80276336C>A | CA2609913662 | MAT1A | c.768+40G>T (n.768+40G>T) c.645+40G>T (n.645+40G>T) | gnomAD v4 |
| 10 | g.80276336C= | CA1922574437 | MAT1A | c.768+40G= (n.768+40G=) c.645+40G= (n.645+40G=) | |
| 10 | g.80276336C>T | CA1922574438 | MAT1A | c.768+40G>A (n.768+40G>A) c.645+40G>A (n.645+40G>A) | dbSNP |
| 10 | g.80276340G>T | CA653620337 | MAT1A | c.768+36C>A (n.768+36C>A) c.645+36C>A (n.645+36C>A) | COSMIC |
| 10 | g.80276346C>T | CA2609913663 | MAT1A | c.768+30G>A (n.768+30G>A) c.645+30G>A (n.645+30G>A) | gnomAD v4 |
| 10 | g.80276347C>A | CA1922574442 | MAT1A | c.768+29G>T (n.768+29G>T) c.645+29G>T (n.645+29G>T) | dbSNP gnomAD v4 |
| 10 | g.80276347C= | CA1922574441 | MAT1A | c.768+29G= (n.768+29G=) c.645+29G= (n.645+29G=) | |
| 10 | g.80276347C>T | CA2574455576 | MAT1A | c.768+29G>A (n.768+29G>A) c.645+29G>A (n.645+29G>A) | |
| 10 | g.80276348A= | CA1922574443 | MAT1A | c.768+28T= (n.768+28T=) c.645+28T= (n.645+28T=) | |
| 10 | g.80276348A>G | CA668886150 | MAT1A | c.768+28T>C (n.768+28T>C) c.645+28T>C (n.645+28T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80276349G>A | CA210323575 | MAT1A | c.768+27C>T (n.768+27C>T) c.645+27C>T (n.645+27C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80276349G= | CA1922574445 | MAT1A | c.768+27C= (n.768+27C=) c.645+27C= (n.645+27C=) | |
| 10 | g.80276350G>C | CA668886171 | MAT1A | c.768+26C>G (n.768+26C>G) c.645+26C>G (n.645+26C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80276350G= | CA1922574447 | MAT1A | c.768+26C= (n.768+26C=) c.645+26C= (n.645+26C=) | |
| 10 | g.80276351G>A | CA210323581 | MAT1A | c.768+25C>T (n.768+25C>T) c.645+25C>T (n.645+25C>T) | dbSNP |
| 10 | g.80276351G= | CA1922574449 | MAT1A | c.768+25C= (n.768+25C=) c.645+25C= (n.645+25C=) | |
| 10 | g.80276353T>G | CA2609913664 | MAT1A | c.768+23A>C (n.768+23A>C) c.645+23A>C (n.645+23A>C) | gnomAD v4 |
| 10 | g.80276355C= | CA1922574451 | MAT1A | c.768+21G= (n.768+21G=) c.645+21G= (n.645+21G=) | |
| 10 | g.80276355C>T | CA5576713 | MAT1A | c.768+21G>A (n.768+21G>A) c.645+21G>A (n.645+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276356G>A | CA5576714 | MAT1A | c.768+20C>T (n.768+20C>T) c.645+20C>T (n.645+20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276356G= | CA1922574454 | MAT1A | c.768+20C= (n.768+20C=) c.645+20C= (n.645+20C=) | |
| 10 | g.80276356G>T | CA1922574456 | MAT1A | c.768+20C>A (n.768+20C>A) c.645+20C>A (n.645+20C>A) | dbSNP gnomAD v4 |
| 10 | g.80276357T>A | CA2609913666 | MAT1A | c.768+19A>T (n.768+19A>T) c.645+19A>T (n.645+19A>T) | gnomAD v4 |
| 10 | g.80276359C>T | CA2609913667 | MAT1A | c.768+17G>A (n.768+17G>A) c.645+17G>A (n.645+17G>A) | gnomAD v4 |
| 10 | g.80276360A>C | CA2788703110 | MAT1A | c.768+16T>G (n.768+16T>G) c.645+16T>G (n.645+16T>G) | |
| 10 | g.80276363_80276364del | CA2574455612 | MAT1A | c.768+15_768+16del (n.768+15_768+16del) c.645+15_645+16del (n.645+15_645+16del) | |
| 10 | g.80276361G>A | CA2574455614 | MAT1A | c.768+15C>T (n.768+15C>T) c.645+15C>T (n.645+15C>T) | |
| 10 | g.80276361_80276366delinsGAGACA | CA1922574457 | MAT1A | c.768+10_768+15delinsTGTCTC (n.768+10_768+15delinsTGTCTC) c.645+10_645+15delinsTGTCTC (n.645+10_645+15delinsTGTCTC) | |
| 10 | g.80276362A>T | CA2609913668 | MAT1A | c.768+14T>A (n.768+14T>A) c.645+14T>A (n.645+14T>A) | gnomAD v4 |
| 10 | g.80276365_80276369del | CA594711875 | MAT1A | c.768+10_768+14del (n.768+10_768+14del) c.645+10_645+14del (n.645+10_645+14del) | dbSNP gnomAD v2 |
| 10 | g.80276363G>A | CA5576715 | MAT1A | c.768+13C>T (n.768+13C>T) c.645+13C>T (n.645+13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276363G= | CA1922574461 | MAT1A | c.768+13C= (n.768+13C=) c.645+13C= (n.645+13C=) | |
| 10 | g.80276364A>C | CA2609913669 | MAT1A | c.768+12T>G (n.768+12T>G) c.645+12T>G (n.645+12T>G) | gnomAD v4 |
| 10 | g.80276366A>C | CA2580082045 | MAT1A | c.768+10T>G (n.768+10T>G) c.645+10T>G (n.645+10T>G) | ClinVar |
| 10 | g.80276368G>A | CA210323613 | MAT1A | c.768+8C>T (n.768+8C>T) c.645+8C>T (n.645+8C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80276368G>C | CA1922574465 | MAT1A | c.768+8C>G (n.768+8C>G) c.645+8C>G (n.645+8C>G) | dbSNP |
| 10 | g.80276368G= | CA1922574463 | MAT1A | c.768+8C= (n.768+8C=) c.645+8C= (n.645+8C=) | |
| 10 | g.80276368G>T | CA5576716 | MAT1A | c.768+8C>A (n.768+8C>A) c.645+8C>A (n.645+8C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276370A>G | CA2609913670 | MAT1A | c.768+6T>C (n.768+6T>C) c.645+6T>C (n.645+6T>C) | gnomAD v4 |
| 10 | g.80276373C>A | CA2609913671 | MAT1A | c.768+3G>T (n.768+3G>T) c.645+3G>T (n.645+3G>T) | gnomAD v4 |
| 10 | g.80276373C= | CA1922574467 | MAT1A | c.768+3G= (n.768+3G=) c.645+3G= (n.645+3G=) | |
| 10 | g.80276373C>G | CA2574455620 | MAT1A | c.768+3G>C (n.768+3G>C) c.645+3G>C (n.645+3G>C) | |
| 10 | g.80276373C>T | CA594711876 | MAT1A | c.768+3G>A (n.768+3G>A) c.645+3G>A (n.645+3G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276374A>C | CA377361480 | MAT1A | c.768+2T>G (n.768+2T>G) c.645+2T>G (n.645+2T>G) | |
| 10 | g.80276374A>G | CA377361476 | MAT1A | c.768+2T>C (n.768+2T>C) c.645+2T>C (n.645+2T>C) | |
| 10 | g.80276374A>T | CA377361479 | MAT1A | c.768+2T>A (n.768+2T>A) c.645+2T>A (n.645+2T>A) | ClinVar |
| 10 | g.80276375C>A | CA377361484 | MAT1A | c.768+1G>T (n.768+1G>T) c.645+1G>T (n.645+1G>T) | dbSNP gnomAD v4 |
| 10 | g.80276375C= | CA1922574469 | MAT1A | c.768+1G= (n.768+1G=) c.645+1G= (n.645+1G=) | |
| 10 | g.80276375C>G | CA377361487 | MAT1A | c.768+1G>C (n.768+1G>C) c.645+1G>C (n.645+1G>C) | |
| 10 | g.80276375C>T | CA377361489 | MAT1A | c.768+1G>A (n.768+1G>A) c.645+1G>A (n.645+1G>A) | |
| 10 | g.80276376C>A | CA377361492 | MAT1A | c.768G>T (p.Gln256His) c.645G>T (p.Gln215His) | |
| 10 | g.80276376C>G | CA377361494 | MAT1A | c.768G>C (p.Gln256His) c.645G>C (p.Gln215His) | |
| 10 | g.80276376C>T | CA470467425 | MAT1A | c.768G>A (p.Gln256=) c.645G>A (p.Gln215=) | |
| 10 | g.80276376_80276379del | CA2739291352 | MAT1A | c.765_768del (p.Gln256GlyfsTer?) c.642_645del (p.Gln215GlyfsTer?) | |
| 10 | g.80276377T>A | CA377361497 | MAT1A | c.767A>T (p.Gln256Leu) c.644A>T (p.Gln215Leu) | |
| 10 | g.80276377T>C | CA377361498 | MAT1A | c.767A>G (p.Gln256Arg) c.644A>G (p.Gln215Arg) | dbSNP |
| 10 | g.80276377T>G | CA377361500 | MAT1A | c.767A>C (p.Gln256Pro) c.644A>C (p.Gln215Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80276377T= | CA1922574471 | MAT1A | c.767A= (p.Gln256=) c.644A= (p.Gln215=) | |
| 10 | g.80276378G>A | CA377361503 | MAT1A | c.766C>T (p.Gln256Ter) c.643C>T (p.Gln215Ter) | |
| 10 | g.80276378G>C | CA377361516 | MAT1A | c.766C>G (p.Gln256Glu) c.643C>G (p.Gln215Glu) | |
| 10 | g.80276378G>T | CA377361519 | MAT1A | c.766C>A (p.Gln256Lys) c.643C>A (p.Gln215Lys) | |
| 10 | g.80276379G>A | CA5576717 | MAT1A | c.765C>T (p.Pro255=) c.642C>T (p.Pro214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80276379G>C | CA470467426 | MAT1A | c.765C>G (p.Pro255=) c.642C>G (p.Pro214=) | |
| 10 | g.80276379G= | CA1922574473 | MAT1A | c.765C= (p.Pro255=) c.642C= (p.Pro214=) | |
| 10 | g.80276379G>T | CA470467427 | MAT1A | c.765C>A (p.Pro255=) c.642C>A (p.Pro214=) | |
| 10 | g.80276380G>A | CA377361527 | MAT1A | c.764C>T (p.Pro255Leu) c.641C>T (p.Pro214Leu) | |
| 10 | g.80276380G>C | CA377361529 | MAT1A | c.764C>G (p.Pro255Arg) c.641C>G (p.Pro214Arg) | |
| 10 | g.80276380G>T | CA377361523 | MAT1A | c.764C>A (p.Pro255His) c.641C>A (p.Pro214His) | |
| 10 | g.80276380_80276382delinsGGA | CA1922574476 | MAT1A | c.762_764delinsTCC (p.Gly254=) c.639_641delinsTCC (p.Gly213=) | |
| 10 | g.80276381G>A | CA16605940 | MAT1A | c.763C>T (p.Pro255Ser) c.640C>T (p.Pro214Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80276381G>C | CA377361534 | MAT1A | c.763C>G (p.Pro255Ala) c.640C>G (p.Pro214Ala) | |
| 10 | g.80276381G= | CA1922574481 | MAT1A | c.763C= (p.Pro255=) c.640C= (p.Pro214=) | |
| 10 | g.80276381G>T | CA377361535 | MAT1A | c.763C>A (p.Pro255Thr) c.640C>A (p.Pro214Thr) | |
| 10 | g.80276381_80276382del | CA668886214 | MAT1A | c.762_763del (p.Gln256GlyfsTer9) c.639_640del (p.Gln215GlyfsTer9) | dbSNP |
| 10 | g.80276382A>C | CA470467428 | MAT1A | c.762T>G (p.Gly254=) c.639T>G (p.Gly213=) | |
| 10 | g.80276382A>G | CA470467429 | MAT1A | c.762T>C (p.Gly254=) c.639T>C (p.Gly213=) | gnomAD v4 |
| 10 | g.80276382A>T | CA470467430 | MAT1A | c.762T>A (p.Gly254=) c.639T>A (p.Gly213=) | |
| 10 | g.80276383C>A | CA377361539 | MAT1A | c.761G>T (p.Gly254Val) c.638G>T (p.Gly213Val) | |
| 10 | g.80276383C>G | CA377361541 | MAT1A | c.761G>C (p.Gly254Ala) c.638G>C (p.Gly213Ala) | |
| 10 | g.80276383C>T | CA377361544 | MAT1A | c.761G>A (p.Gly254Asp) c.638G>A (p.Gly213Asp) | gnomAD v4 |
| 10 | g.80276384C>A | CA377361555 | MAT1A | c.760G>T (p.Gly254Cys) c.637G>T (p.Gly213Cys) | |
| 10 | g.80276384C= | CA1922574487 | MAT1A | c.760G= (p.Gly254=) c.637G= (p.Gly213=) | |
| 10 | g.80276384C>G | CA377361556 | MAT1A | c.760G>C (p.Gly254Arg) c.637G>C (p.Gly213Arg) | |
| 10 | g.80276384C>T | CA377361560 | MAT1A | c.760G>A (p.Gly254Ser) c.637G>A (p.Gly213Ser) | ClinVar dbSNP |
| 10 | g.80276385T>A | CA470467431 | MAT1A | c.759A>T (p.Gly253=) c.636A>T (p.Gly212=) | |
| 10 | g.80276385T>C | CA470467432 | MAT1A | c.759A>G (p.Gly253=) c.636A>G (p.Gly212=) | |
| 10 | g.80276385T>G | CA470467433 | MAT1A | c.759A>C (p.Gly253=) c.636A>C (p.Gly212=) | |
| 10 | g.80276386C>A | CA377361564 | MAT1A | c.758G>T (p.Gly253Val) c.635G>T (p.Gly212Val) | |
| 10 | g.80276386C>G | CA377361565 | MAT1A | c.758G>C (p.Gly253Ala) c.635G>C (p.Gly212Ala) | |
| 10 | g.80276386C>T | CA377361568 | MAT1A | c.758G>A (p.Gly253Glu) c.635G>A (p.Gly212Glu) |