| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.45507400_45507415del | CA2586966630 | MMACHC | c.126_141del (p.Leu43TrpfsTer28) c.-46_-31del (n.-46_-31del) c.82-812_82-797del (n.82-812_82-797del) | ClinVar gnomAD v4 |
| 1 | g.45507414C>A | CA827648 | MMACHC | c.140C>A (p.Thr47Asn) c.-32C>A (n.-32C>A) c.82-798C>A (n.82-798C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507414C= | CA1143448906 | MMACHC | c.140C= (p.Thr47=) c.-32C= (n.-32C=) c.82-798C= (n.82-798C=) | |
| 1 | g.45507414C>G | CA340131493 | MMACHC | c.140C>G (p.Thr47Ser) c.-32C>G (n.-32C>G) c.82-798C>G (n.82-798C>G) | |
| 1 | g.45507414C>T | CA827649 | MMACHC | c.140C>T (p.Thr47Ile) c.-32C>T (n.-32C>T) c.82-798C>T (n.82-798C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507415C>A | CA417704582 | MMACHC | c.141C>A (p.Thr47=) c.-31C>A (n.-31C>A) c.82-797C>A (n.82-797C>A) | |
| 1 | g.45507415C= | CA2473783032 | MMACHC | c.141C= (p.Thr47=) c.-31C= (n.-31C=) c.82-797C= (n.82-797C=) | |
| 1 | g.45507415C>G | CA21828827 | MMACHC | c.141C>G (p.Thr47=) c.-31C>G (n.-31C>G) c.82-797C>G (n.82-797C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.45507415C>T | CA417704583 | MMACHC | c.141C>T (p.Thr47=) c.-31C>T (n.-31C>T) c.82-797C>T (n.82-797C>T) | |
| 1 | g.45507420_45507428del | CA2586966632 | MMACHC | c.146_154del (p.Ala49_Leu51del) c.-26_-18del (n.-26_-18del) c.82-792_82-784del (n.82-792_82-784del) | |
| 1 | g.45507416C>A | CA340131497 | MMACHC | c.142C>A (p.Leu48Met) c.-30C>A (n.-30C>A) c.82-796C>A (n.82-796C>A) | |
| 1 | g.45507416C>G | CA340131499 | MMACHC | c.142C>G (p.Leu48Val) c.-30C>G (n.-30C>G) c.82-796C>G (n.82-796C>G) | gnomAD v4 |
| 1 | g.45507416C>T | CA417704584 | MMACHC | c.142C>T (p.Leu48=) c.-30C>T (n.-30C>T) c.82-796C>T (n.82-796C>T) | COSMIC |
| 1 | g.45507417_45507420del | CA2580062904 | MMACHC | c.143_146del (p.Leu48ProfsTer27) c.-29_-26del (n.-29_-26del) c.82-795_82-792del (n.82-795_82-792del) | ClinVar |
| 1 | g.45507417T>A | CA340131508 | MMACHC | c.143T>A (p.Leu48Gln) c.-29T>A (n.-29T>A) c.82-795T>A (n.82-795T>A) | |
| 1 | g.45507417T>C | CA340131505 | MMACHC | c.143T>C (p.Leu48Pro) c.-29T>C (n.-29T>C) c.82-795T>C (n.82-795T>C) | |
| 1 | g.45507417T>G | CA340131503 | MMACHC | c.143T>G (p.Leu48Arg) c.-29T>G (n.-29T>G) c.82-795T>G (n.82-795T>G) | |
| 1 | g.45507418G>A | CA417704585 | MMACHC | c.144G>A (p.Leu48=) c.-28G>A (n.-28G>A) c.82-794G>A (n.82-794G>A) | gnomAD v4 |
| 1 | g.45507418G>C | CA417704586 | MMACHC | c.144G>C (p.Leu48=) c.-28G>C (n.-28G>C) c.82-794G>C (n.82-794G>C) | gnomAD v4 |
| 1 | g.45507418G>T | CA417704587 | MMACHC | c.144G>T (p.Leu48=) c.-28G>T (n.-28G>T) c.82-794G>T (n.82-794G>T) | |
| 1 | g.45507419G>A | CA827650 | MMACHC | c.145G>A (p.Ala49Thr) c.-27G>A (n.-27G>A) c.82-793G>A (n.82-793G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.45507419G>C | CA340131512 | MMACHC | c.145G>C (p.Ala49Pro) c.-27G>C (n.-27G>C) c.82-793G>C (n.82-793G>C) | ClinVar dbSNP |
| 1 | g.45507419G= | CA2473783033 | MMACHC | c.145G= (p.Ala49=) c.-27G= (n.-27G=) c.82-793G= (n.82-793G=) | |
| 1 | g.45507419G>T | CA340131514 | MMACHC | c.145G>T (p.Ala49Ser) c.-27G>T (n.-27G>T) c.82-793G>T (n.82-793G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507420C>A | CA340131518 | MMACHC | c.146C>A (p.Ala49Asp) c.-26C>A (n.-26C>A) c.82-792C>A (n.82-792C>A) | |
| 1 | g.45507420C= | CA2473783034 | MMACHC | c.146C= (p.Ala49=) c.-26C= (n.-26C=) c.82-792C= (n.82-792C=) | |
| 1 | g.45507420C>G | CA340131520 | MMACHC | c.146C>G (p.Ala49Gly) c.-26C>G (n.-26C>G) c.82-792C>G (n.82-792C>G) | |
| 1 | g.45507420C>T | CA340131523 | MMACHC | c.146C>T (p.Ala49Val) c.-26C>T (n.-26C>T) c.82-792C>T (n.82-792C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507421C>A | CA417704588 | MMACHC | c.147C>A (p.Ala49=) c.-25C>A (n.-25C>A) c.82-791C>A (n.82-791C>A) | |
| 1 | g.45507421C= | CA2473783035 | MMACHC | c.147C= (p.Ala49=) c.-25C= (n.-25C=) c.82-791C= (n.82-791C=) | |
| 1 | g.45507421C>G | CA417704589 | MMACHC | c.147C>G (p.Ala49=) c.-25C>G (n.-25C>G) c.82-791C>G (n.82-791C>G) | |
| 1 | g.45507421C>T | CA417704590 | MMACHC | c.147C>T (p.Ala49=) c.-25C>T (n.-25C>T) c.82-791C>T (n.82-791C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.45507422T>A | CA340131526 | MMACHC | c.148T>A (p.Phe50Ile) c.-24T>A (n.-24T>A) c.82-790T>A (n.82-790T>A) | |
| 1 | g.45507422T>C | CA340131530 | MMACHC | c.148T>C (p.Phe50Leu) c.-24T>C (n.-24T>C) c.82-790T>C (n.82-790T>C) | |
| 1 | g.45507422T>G | CA340131528 | MMACHC | c.148T>G (p.Phe50Val) c.-24T>G (n.-24T>G) c.82-790T>G (n.82-790T>G) | |
| 1 | g.45507423T>A | CA340131532 | MMACHC | c.149T>A (p.Phe50Tyr) c.-23T>A (n.-23T>A) c.82-789T>A (n.82-789T>A) | |
| 1 | g.45507423T>C | CA340131536 | MMACHC | c.149T>C (p.Phe50Ser) c.-23T>C (n.-23T>C) c.82-789T>C (n.82-789T>C) | |
| 1 | g.45507423T>G | CA340131534 | MMACHC | c.149T>G (p.Phe50Cys) c.-23T>G (n.-23T>G) c.82-789T>G (n.82-789T>G) | |
| 1 | g.45507424C>A | CA340131539 | MMACHC | c.150C>A (p.Phe50Leu) c.-22C>A (n.-22C>A) c.82-788C>A (n.82-788C>A) | |
| 1 | g.45507424C= | CA2473783036 | MMACHC | c.150C= (p.Phe50=) c.-22C= (n.-22C=) c.82-788C= (n.82-788C=) | |
| 1 | g.45507424C>G | CA340131543 | MMACHC | c.150C>G (p.Phe50Leu) c.-22C>G (n.-22C>G) c.82-788C>G (n.82-788C>G) | |
| 1 | g.45507424C>T | CA827651 | MMACHC | c.150C>T (p.Phe50=) c.-22C>T (n.-22C>T) c.82-788C>T (n.82-788C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.45507425C>A | CA340131546 | MMACHC | c.151C>A (p.Leu51Met) c.-21C>A (n.-21C>A) c.82-787C>A (n.82-787C>A) | |
| 1 | g.45507425C>G | CA340131547 | MMACHC | c.151C>G (p.Leu51Val) c.-21C>G (n.-21C>G) c.82-787C>G (n.82-787C>G) | |
| 1 | g.45507425C>T | CA417704591 | MMACHC | c.151C>T (p.Leu51=) c.-21C>T (n.-21C>T) c.82-787C>T (n.82-787C>T) | |
| 1 | g.45507425_45507426del | CA2574352213 | MMACHC | c.151_152del (p.Leu51GlyfsTer9) c.-21_-20del (n.-21_-20del) c.82-787_82-786del (n.82-787_82-786del) | ClinVar |
| 1 | g.45507426T>A | CA340131551 | MMACHC | c.152T>A (p.Leu51Gln) c.-20T>A (n.-20T>A) c.82-786T>A (n.82-786T>A) | |
| 1 | g.45507426T>C | CA340131553 | MMACHC | c.152T>C (p.Leu51Pro) c.-20T>C (n.-20T>C) c.82-786T>C (n.82-786T>C) | |
| 1 | g.45507426T>G | CA340131555 | MMACHC | c.152T>G (p.Leu51Arg) c.-20T>G (n.-20T>G) c.82-786T>G (n.82-786T>G) | |
| 1 | g.45507427G>A | CA417704592 | MMACHC | c.153G>A (p.Leu51=) c.-19G>A (n.-19G>A) c.82-785G>A (n.82-785G>A) | ClinVar |
| 1 | g.45507427G>C | CA417704593 | MMACHC | c.153G>C (p.Leu51=) c.-19G>C (n.-19G>C) c.82-785G>C (n.82-785G>C) | dbSNP gnomAD v4 |
| 1 | g.45507427G= | CA2473783037 | MMACHC | c.153G= (p.Leu51=) c.-19G= (n.-19G=) c.82-785G= (n.82-785G=) | |
| 1 | g.45507427G>T | CA417704594 | MMACHC | c.153G>T (p.Leu51=) c.-19G>T (n.-19G>T) c.82-785G>T (n.82-785G>T) | |
| 1 | g.45507428G>A | CA340131558 | MMACHC | c.154G>A (p.Val52Ile) c.-18G>A (n.-18G>A) c.82-784G>A (n.82-784G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507428G>C | CA340131560 | MMACHC | c.154G>C (p.Val52Leu) c.-18G>C (n.-18G>C) c.82-784G>C (n.82-784G>C) | |
| 1 | g.45507428G= | CA2473783038 | MMACHC | c.154G= (p.Val52=) c.-18G= (n.-18G=) c.82-784G= (n.82-784G=) | |
| 1 | g.45507428G>T | CA340131562 | MMACHC | c.154G>T (p.Val52Leu) c.-18G>T (n.-18G>T) c.82-784G>T (n.82-784G>T) | |
| 1 | g.45507429T>A | CA340131565 | MMACHC | c.155T>A (p.Val52Glu) c.-17T>A (n.-17T>A) c.82-783T>A (n.82-783T>A) | |
| 1 | g.45507429T>C | CA340131570 | MMACHC | c.155T>C (p.Val52Ala) c.-17T>C (n.-17T>C) c.82-783T>C (n.82-783T>C) | gnomAD v4 |
| 1 | g.45507429T>G | CA340131568 | MMACHC | c.155T>G (p.Val52Gly) c.-17T>G (n.-17T>G) c.82-783T>G (n.82-783T>G) | |
| 1 | g.45507430A= | CA2473783039 | MMACHC | c.156A= (p.Val52=) c.-16A= (n.-16A=) c.82-782A= (n.82-782A=) | |
| 1 | g.45507430A>C | CA417704595 | MMACHC | c.156A>C (p.Val52=) c.-16A>C (n.-16A>C) c.82-782A>C (n.82-782A>C) | gnomAD v4 |
| 1 | g.45507430A>G | CA827652 | MMACHC | c.156A>G (p.Val52=) c.-16A>G (n.-16A>G) c.82-782A>G (n.82-782A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507430A>T | CA417704596 | MMACHC | c.156A>T (p.Val52=) c.-16A>T (n.-16A>T) c.82-782A>T (n.82-782A>T) | |
| 1 | g.45507431C>A | CA340131574 | MMACHC | c.157C>A (p.Leu53Ile) c.-15C>A (n.-15C>A) c.82-781C>A (n.82-781C>A) | |
| 1 | g.45507431C= | CA1143486690 | MMACHC | c.157C= (p.Leu53=) c.-15C= (n.-15C=) c.82-781C= (n.82-781C=) | |
| 1 | g.45507431C>G | CA21828838 | MMACHC | c.157C>G (p.Leu53Val) c.-15C>G (n.-15C>G) c.82-781C>G (n.82-781C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507431C>T | CA827653 | MMACHC | c.157C>T (p.Leu53Phe) c.-15C>T (n.-15C>T) c.82-781C>T (n.82-781C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507432T>A | CA340131579 | MMACHC | c.158T>A (p.Leu53His) c.-14T>A (n.-14T>A) c.82-780T>A (n.82-780T>A) | |
| 1 | g.45507432T>C | CA827654 | MMACHC | c.158T>C (p.Leu53Pro) c.-14T>C (n.-14T>C) c.82-780T>C (n.82-780T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.45507432T>G | CA340131581 | MMACHC | c.158T>G (p.Leu53Arg) c.-14T>G (n.-14T>G) c.82-780T>G (n.82-780T>G) | |
| 1 | g.45507432T= | CA2473783040 | MMACHC | c.158T= (p.Leu53=) c.-14T= (n.-14T=) c.82-780T= (n.82-780T=) | |
| 1 | g.45507433C>A | CA417704597 | MMACHC | c.159C>A (p.Leu53=) c.-13C>A (n.-13C>A) c.82-779C>A (n.82-779C>A) | |
| 1 | g.45507433C= | CA1143828346 | MMACHC | c.159C= (p.Leu53=) c.-13C= (n.-13C=) c.82-779C= (n.82-779C=) | |
| 1 | g.45507433C>G | CA417704598 | MMACHC | c.159C>G (p.Leu53=) c.-13C>G (n.-13C>G) c.82-779C>G (n.82-779C>G) | |
| 1 | g.45507433C>T | CA827655 | MMACHC | c.159C>T (p.Leu53=) c.-13C>T (n.-13C>T) c.82-779C>T (n.82-779C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507434A= | CA2473783041 | MMACHC | c.160A= (p.Ser54=) c.-12A= (n.-12A=) c.82-778A= (n.82-778A=) | |
| 1 | g.45507434A>C | CA340131586 | MMACHC | c.160A>C (p.Ser54Arg) c.-12A>C (n.-12A>C) c.82-778A>C (n.82-778A>C) | |
| 1 | g.45507434A>G | CA340131587 | MMACHC | c.160A>G (p.Ser54Gly) c.-12A>G (n.-12A>G) c.82-778A>G (n.82-778A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.45507434A>T | CA340131590 | MMACHC | c.160A>T (p.Ser54Cys) c.-12A>T (n.-12A>T) c.82-778A>T (n.82-778A>T) | |
| 1 | g.45507435G>A | CA340131592 | MMACHC | c.161G>A (p.Ser54Asn) c.-11G>A (n.-11G>A) c.82-777G>A (n.82-777G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.45507435G>C | CA340131594 | MMACHC | c.161G>C (p.Ser54Thr) c.-11G>C (n.-11G>C) c.82-777G>C (n.82-777G>C) | |
| 1 | g.45507435G= | CA2473783042 | MMACHC | c.161G= (p.Ser54=) c.-11G= (n.-11G=) c.82-777G= (n.82-777G=) | |
| 1 | g.45507435G>T | CA340131597 | MMACHC | c.161G>T (p.Ser54Ile) c.-11G>T (n.-11G>T) c.82-777G>T (n.82-777G>T) | |
| 1 | g.45507436C>A | CA340131600 | MMACHC | c.162C>A (p.Ser54Arg) c.-10C>A (n.-10C>A) c.82-776C>A (n.82-776C>A) | |
| 1 | g.45507436C= | CA2473783043 | MMACHC | c.162C= (p.Ser54=) c.-10C= (n.-10C=) c.82-776C= (n.82-776C=) | |
| 1 | g.45507436C>G | CA827656 | MMACHC | c.162C>G (p.Ser54Arg) c.-10C>G (n.-10C>G) c.82-776C>G (n.82-776C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.45507436C>T | CA21828854 | MMACHC | c.162C>T (p.Ser54=) c.-10C>T (n.-10C>T) c.82-776C>T (n.82-776C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.45507437A>C | CA340131602 | MMACHC | c.163A>C (p.Thr55Pro) c.-9A>C (n.-9A>C) c.82-775A>C (n.82-775A>C) | |
| 1 | g.45507437A>G | CA340131605 | MMACHC | c.163A>G (p.Thr55Ala) c.-9A>G (n.-9A>G) c.82-775A>G (n.82-775A>G) | |
| 1 | g.45507437A>T | CA340131607 | MMACHC | c.163A>T (p.Thr55Ser) c.-9A>T (n.-9A>T) c.82-775A>T (n.82-775A>T) | |
| 1 | g.45507438C>A | CA340131610 | MMACHC | c.164C>A (p.Thr55Lys) c.-8C>A (n.-8C>A) c.82-774C>A (n.82-774C>A) | |
| 1 | g.45507438C= | CA1144052671 | MMACHC | c.164C= (p.Thr55=) c.-8C= (n.-8C=) c.82-774C= (n.82-774C=) | |
| 1 | g.45507438C>G | CA340131612 | MMACHC | c.164C>G (p.Thr55Arg) c.-8C>G (n.-8C>G) c.82-774C>G (n.82-774C>G) | |
| 1 | g.45507438C>T | CA827657 | MMACHC | c.164C>T (p.Thr55Met) c.-8C>T (n.-8C>T) c.82-774C>T (n.82-774C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.45507439G>A | CA827658 | MMACHC | c.165G>A (p.Thr55=) c.-7G>A (n.-7G>A) c.82-773G>A (n.82-773G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507439G>C | CA417704599 | MMACHC | c.165G>C (p.Thr55=) c.-7G>C (n.-7G>C) c.82-773G>C (n.82-773G>C) | dbSNP gnomAD v2 |
| 1 | g.45507439G= | CA1143692974 | MMACHC | c.165G= (p.Thr55=) c.-7G= (n.-7G=) c.82-773G= (n.82-773G=) | |
| 1 | g.45507439G>T | CA827659 | MMACHC | c.165G>T (p.Thr55=) c.-7G>T (n.-7G>T) c.82-773G>T (n.82-773G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507440C>A | CA340131619 | MMACHC | c.166C>A (p.Pro56Thr) c.-6C>A (n.-6C>A) c.82-772C>A (n.82-772C>A) | dbSNP gnomAD v4 |
| 1 | g.45507440C= | CA2473783044 | MMACHC | c.166C= (p.Pro56=) c.-6C= (n.-6C=) c.82-772C= (n.82-772C=) | |
| 1 | g.45507440C>G | CA340131621 | MMACHC | c.166C>G (p.Pro56Ala) c.-6C>G (n.-6C>G) c.82-772C>G (n.82-772C>G) | |
| 1 | g.45507440C>T | CA340131623 | MMACHC | c.166C>T (p.Pro56Ser) c.-6C>T (n.-6C>T) c.82-772C>T (n.82-772C>T) | COSMIC |
| 1 | g.45507441del | CA2645390885 | MMACHC | c.167del (p.Pro56LeufsTer20) c.-5del (n.-5del) c.82-771del (n.82-771del) | gnomAD v4 |
| 1 | g.45507441C>A | CA340131624 | MMACHC | c.167C>A (p.Pro56His) c.-5C>A (n.-5C>A) c.82-771C>A (n.82-771C>A) | |
| 1 | g.45507441C>G | CA340131626 | MMACHC | c.167C>G (p.Pro56Arg) c.-5C>G (n.-5C>G) c.82-771C>G (n.82-771C>G) | |
| 1 | g.45507441C>T | CA340131627 | MMACHC | c.167C>T (p.Pro56Leu) c.-5C>T (n.-5C>T) c.82-771C>T (n.82-771C>T) | |
| 1 | g.45507442T>A | CA417704600 | MMACHC | c.168T>A (p.Pro56=) c.-4T>A (n.-4T>A) c.82-770T>A (n.82-770T>A) | |
| 1 | g.45507442T>C | CA417704601 | MMACHC | c.168T>C (p.Pro56=) c.-4T>C (n.-4T>C) c.82-770T>C (n.82-770T>C) | |
| 1 | g.45507442T>G | CA417704602 | MMACHC | c.168T>G (p.Pro56=) c.-4T>G (n.-4T>G) c.82-770T>G (n.82-770T>G) | |
| 1 | g.45507443G>A | CA340131630 | MMACHC | c.169G>A (p.Ala57Thr) c.-3G>A (n.-3G>A) c.82-769G>A (n.82-769G>A) | |
| 1 | g.45507443G>C | CA340131632 | MMACHC | c.169G>C (p.Ala57Pro) c.-3G>C (n.-3G>C) c.82-769G>C (n.82-769G>C) | |
| 1 | g.45507443G>T | CA340131634 | MMACHC | c.169G>T (p.Ala57Ser) c.-3G>T (n.-3G>T) c.82-769G>T (n.82-769G>T) | |
| 1 | g.45507444C>A | CA340131642 | MMACHC | c.170C>A (p.Ala57Asp) c.-2C>A (n.-2C>A) c.82-768C>A (n.82-768C>A) | |
| 1 | g.45507444C>G | CA340131639 | MMACHC | c.170C>G (p.Ala57Gly) c.-2C>G (n.-2C>G) c.82-768C>G (n.82-768C>G) | |
| 1 | g.45507444C>T | CA340131637 | MMACHC | c.170C>T (p.Ala57Val) c.-2C>T (n.-2C>T) c.82-768C>T (n.82-768C>T) | |
| 1 | g.45507445C>A | CA417704605 | MMACHC | c.171C>A (p.Ala57=) c.-1C>A (n.-1C>A) c.82-767C>A (n.82-767C>A) | |
| 1 | g.45507445C>G | CA417704604 | MMACHC | c.171C>G (p.Ala57=) c.-1C>G (n.-1C>G) c.82-767C>G (n.82-767C>G) | |
| 1 | g.45507445C>T | CA417704603 | MMACHC | c.171C>T (p.Ala57=) c.-1C>T (n.-1C>T) c.82-767C>T (n.82-767C>T) | |
| 1 | g.45507446A>C | CA340131644 | MMACHC | c.172A>C (p.Met58Leu) c.1A>C (p.Met1Leu) c.82-766A>C (n.82-766A>C) | |
| 1 | g.45507446A>G | CA340131646 | MMACHC | c.172A>G (p.Met58Val) c.1A>G (p.Met1Val) c.82-766A>G (n.82-766A>G) | gnomAD v4 |
| 1 | g.45507446A>T | CA340131648 | MMACHC | c.172A>T (p.Met58Leu) c.1A>T (p.Met1Leu) c.82-766A>T (n.82-766A>T) | |
| 1 | g.45507447T>A | CA340131652 | MMACHC | c.173T>A (p.Met58Lys) c.2T>A (p.Met1Lys) c.82-765T>A (n.82-765T>A) | |
| 1 | g.45507447T>C | CA827660 | MMACHC | c.173T>C (p.Met58Thr) c.2T>C (p.Met1Thr) c.82-765T>C (n.82-765T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.45507447T>G | CA340131654 | MMACHC | c.173T>G (p.Met58Arg) c.2T>G (p.Met1Arg) c.82-765T>G (n.82-765T>G) | |
| 1 | g.45507447T= | CA2473783045 | MMACHC | c.173T= (p.Met58=) c.2T= (p.Met1=) c.82-765T= (n.82-765T=) | |
| 1 | g.45507448G>A | CA340131657 | MMACHC | c.174G>A (p.Met58Ile) c.3G>A (p.Met1Ile) c.82-764G>A (n.82-764G>A) | |
| 1 | g.45507448G>C | CA340131659 | MMACHC | c.174G>C (p.Met58Ile) c.3G>C (p.Met1Ile) c.82-764G>C (n.82-764G>C) | gnomAD v4 |
| 1 | g.45507448G>T | CA340131661 | MMACHC | c.174G>T (p.Met58Ile) c.3G>T (p.Met1Ile) c.82-764G>T (n.82-764G>T) | |
| 1 | g.45507449T>A | CA340131664 | MMACHC | c.175T>A (p.Phe59Ile) c.4T>A (p.Phe2Ile) c.82-763T>A (n.82-763T>A) | |
| 1 | g.45507449T>C | CA827661 | MMACHC | c.175T>C (p.Phe59Leu) c.4T>C (p.Phe2Leu) c.82-763T>C (n.82-763T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.45507449T>G | CA340131667 | MMACHC | c.175T>G (p.Phe59Val) c.4T>G (p.Phe2Val) c.82-763T>G (n.82-763T>G) | |
| 1 | g.45507449T= | CA2473783046 | MMACHC | c.175T= (p.Phe59=) c.4T= (p.Phe2=) c.82-763T= (n.82-763T=) | |
| 1 | g.45507450T>A | CA340131670 | MMACHC | c.176T>A (p.Phe59Tyr) c.5T>A (p.Phe2Tyr) c.82-762T>A (n.82-762T>A) | |
| 1 | g.45507450T>C | CA340131675 | MMACHC | c.176T>C (p.Phe59Ser) c.5T>C (p.Phe2Ser) c.82-762T>C (n.82-762T>C) | |
| 1 | g.45507450T>G | CA340131673 | MMACHC | c.176T>G (p.Phe59Cys) c.5T>G (p.Phe2Cys) c.82-762T>G (n.82-762T>G) | |
| 1 | g.45507451T>A | CA340131677 | MMACHC | c.177T>A (p.Phe59Leu) c.6T>A (p.Phe2Leu) c.82-761T>A (n.82-761T>A) | |
| 1 | g.45507451T>C | CA417704606 | MMACHC | c.177T>C (p.Phe59=) c.6T>C (p.Phe2=) c.82-761T>C (n.82-761T>C) | |
| 1 | g.45507451T>G | CA340131679 | MMACHC | c.177T>G (p.Phe59Leu) c.6T>G (p.Phe2Leu) c.82-761T>G (n.82-761T>G) | |
| 1 | g.45507451T= | CA2473783047 | MMACHC | c.177T= (p.Phe59=) c.6T= (p.Phe2=) c.82-761T= (n.82-761T=) | |
| 1 | g.45507452G>A | CA340131682 | MMACHC | c.178G>A (p.Asp60Asn) c.7G>A (p.Asp3Asn) c.82-760G>A (n.82-760G>A) | dbSNP gnomAD v4 |
| 1 | g.45507452G>C | CA292117 | MMACHC | c.178G>C (p.Asp60His) c.7G>C (p.Asp3His) c.82-760G>C (n.82-760G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507452G= | CA1140076030 | MMACHC | c.178G= (p.Asp60=) c.7G= (p.Asp3=) c.82-760G= (n.82-760G=) | |
| 1 | g.45507452G>T | CA340131685 | MMACHC | c.178G>T (p.Asp60Tyr) c.7G>T (p.Asp3Tyr) c.82-760G>T (n.82-760G>T) | |
| 1 | g.45507452dup | CA915941282 | MMACHC | c.178dup (p.Asp60GlyfsTer18) c.7dup (p.Asp3GlyfsTer18) c.82-760dup (n.82-760dup) | ClinVar dbSNP |
| 1 | g.45507453A>C | CA340131689 | MMACHC | c.179A>C (p.Asp60Ala) c.8A>C (p.Asp3Ala) c.82-759A>C (n.82-759A>C) | |
| 1 | g.45507453A>G | CA340131690 | MMACHC | c.179A>G (p.Asp60Gly) c.8A>G (p.Asp3Gly) c.82-759A>G (n.82-759A>G) | |
| 1 | g.45507453A>T | CA340131691 | MMACHC | c.179A>T (p.Asp60Val) c.8A>T (p.Asp3Val) c.82-759A>T (n.82-759A>T) | |
| 1 | g.45507454C>A | CA340131694 | MMACHC | c.180C>A (p.Asp60Glu) c.9C>A (p.Asp3Glu) c.82-758C>A (n.82-758C>A) | |
| 1 | g.45507454C= | CA1144840599 | MMACHC | c.180C= (p.Asp60=) c.9C= (p.Asp3=) c.82-758C= (n.82-758C=) | |
| 1 | g.45507454C>G | CA340131696 | MMACHC | c.180C>G (p.Asp60Glu) c.9C>G (p.Asp3Glu) c.82-758C>G (n.82-758C>G) | |
| 1 | g.45507454C>T | CA21828872 | MMACHC | c.180C>T (p.Asp60=) c.9C>T (p.Asp3=) c.82-758C>T (n.82-758C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507455C>A | CA417704607 | MMACHC | c.181C>A (p.Arg61=) c.10C>A (p.Arg4=) c.82-757C>A (n.82-757C>A) | |
| 1 | g.45507455C= | CA1143420533 | MMACHC | c.181C= (p.Arg61=) c.10C= (p.Arg4=) c.82-757C= (n.82-757C=) | |
| 1 | g.45507455C>G | CA340131699 | MMACHC | c.181C>G (p.Arg61Gly) c.10C>G (p.Arg4Gly) c.82-757C>G (n.82-757C>G) | gnomAD v4 |
| 1 | g.45507455C>T | CA312726 | MMACHC | c.181C>T (p.Arg61Trp) c.10C>T (p.Arg4Trp) c.82-757C>T (n.82-757C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507455_45507456delinsCG | CA2473783048 | MMACHC | c.181_182delinsCG (p.Arg61=) c.10_11delinsCG (p.Arg4=) c.82-757_82-756delinsCG (n.82-757_82-756delinsCG) | |
| 1 | g.45507456G>A | CA827662 | MMACHC | c.182G>A (p.Arg61Gln) c.11G>A (p.Arg4Gln) c.82-756G>A (n.82-756G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507456G>C | CA340131703 | MMACHC | c.182G>C (p.Arg61Pro) c.11G>C (p.Arg4Pro) c.82-756G>C (n.82-756G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507456G= | CA1143504687 | MMACHC | c.182G= (p.Arg61=) c.11G= (p.Arg4=) c.82-756G= (n.82-756G=) | |
| 1 | g.45507456G>T | CA340131705 | MMACHC | c.182G>T (p.Arg61Leu) c.11G>T (p.Arg4Leu) c.82-756G>T (n.82-756G>T) | |
| 1 | g.45507458del | CA2473783049 | MMACHC | c.184del (p.Ala62ProfsTer14) c.13del (p.Ala5ProfsTer14) c.82-754del (n.82-754del) | dbSNP |
| 1 | g.45507457G>A | CA417704608 | MMACHC | c.183G>A (p.Arg61=) c.12G>A (p.Arg4=) c.82-755G>A (n.82-755G>A) | |
| 1 | g.45507457G>C | CA417704609 | MMACHC | c.183G>C (p.Arg61=) c.12G>C (p.Arg4=) c.82-755G>C (n.82-755G>C) | |
| 1 | g.45507457G>T | CA417704610 | MMACHC | c.183G>T (p.Arg61=) c.12G>T (p.Arg4=) c.82-755G>T (n.82-755G>T) | |
| 1 | g.45507458G>A | CA340131709 | MMACHC | c.184G>A (p.Ala62Thr) c.13G>A (p.Ala5Thr) c.82-754G>A (n.82-754G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.45507458G>C | CA340131711 | MMACHC | c.184G>C (p.Ala62Pro) c.13G>C (p.Ala5Pro) c.82-754G>C (n.82-754G>C) | |
| 1 | g.45507458G= | CA2473783051 | MMACHC | c.184G= (p.Ala62=) c.13G= (p.Ala5=) c.82-754G= (n.82-754G=) | |
| 1 | g.45507458G>T | CA340131712 | MMACHC | c.184G>T (p.Ala62Ser) c.13G>T (p.Ala5Ser) c.82-754G>T (n.82-754G>T) | |
| 1 | g.45507458_45507459delinsGC | CA2473783050 | MMACHC | c.184_185delinsGC (p.Ala62=) c.13_14delinsGC (p.Ala5=) c.82-754_82-753delinsGC (n.82-754_82-753delinsGC) | |
| 1 | g.45507463_45507470dup | CA2695198015 | MMACHC | c.189_196dup (p.Phe66SerfsTer13) c.18_25dup (p.Phe9SerfsTer13) c.82-749_82-742dup (n.82-749_82-742dup) | ClinVar |
| 1 | g.45507459C>A | CA340131714 | MMACHC | c.185C>A (p.Ala62Asp) c.14C>A (p.Ala5Asp) c.82-753C>A (n.82-753C>A) | gnomAD v4 |
| 1 | g.45507459C>G | CA340131716 | MMACHC | c.185C>G (p.Ala62Gly) c.14C>G (p.Ala5Gly) c.82-753C>G (n.82-753C>G) | |
| 1 | g.45507459C>T | CA340131718 | MMACHC | c.185C>T (p.Ala62Val) c.14C>T (p.Ala5Val) c.82-753C>T (n.82-753C>T) | gnomAD v4 |
| 1 | g.45507461del | CA522810652 | MMACHC | c.187del (p.Leu63SerfsTer13) c.16del (p.Leu6SerfsTer13) c.82-751del (n.82-751del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.45507460C>A | CA417704611 | MMACHC | c.186C>A (p.Ala62=) c.15C>A (p.Ala5=) c.82-752C>A (n.82-752C>A) | |
| 1 | g.45507460C>G | CA417704612 | MMACHC | c.186C>G (p.Ala62=) c.15C>G (p.Ala5=) c.82-752C>G (n.82-752C>G) | |
| 1 | g.45507460C>T | CA417704613 | MMACHC | c.186C>T (p.Ala62=) c.15C>T (p.Ala5=) c.82-752C>T (n.82-752C>T) | |
| 1 | g.45507461C>A | CA340131721 | MMACHC | c.187C>A (p.Leu63Ile) c.16C>A (p.Leu6Ile) c.82-751C>A (n.82-751C>A) | |
| 1 | g.45507461C>G | CA340131724 | MMACHC | c.187C>G (p.Leu63Val) c.16C>G (p.Leu6Val) c.82-751C>G (n.82-751C>G) | |
| 1 | g.45507461C>T | CA340131726 | MMACHC | c.187C>T (p.Leu63Phe) c.16C>T (p.Leu6Phe) c.82-751C>T (n.82-751C>T) | |
| 1 | g.45507462T>A | CA340131729 | MMACHC | c.188T>A (p.Leu63His) c.17T>A (p.Leu6His) c.82-750T>A (n.82-750T>A) | |
| 1 | g.45507462T>C | CA340131731 | MMACHC | c.188T>C (p.Leu63Pro) c.17T>C (p.Leu6Pro) c.82-750T>C (n.82-750T>C) | |
| 1 | g.45507462T>G | CA340131733 | MMACHC | c.188T>G (p.Leu63Arg) c.17T>G (p.Leu6Arg) c.82-750T>G (n.82-750T>G) | |
| 1 | g.45507463C>A | CA417704614 | MMACHC | c.189C>A (p.Leu63=) c.18C>A (p.Leu6=) c.82-749C>A (n.82-749C>A) | |
| 1 | g.45507463C= | CA2473783053 | MMACHC | c.189C= (p.Leu63=) c.18C= (p.Leu6=) c.82-749C= (n.82-749C=) | |
| 1 | g.45507463C>G | CA417704615 | MMACHC | c.189C>G (p.Leu63=) c.18C>G (p.Leu6=) c.82-749C>G (n.82-749C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.45507463C>T | CA417704616 | MMACHC | c.189C>T (p.Leu63=) c.18C>T (p.Leu6=) c.82-749C>T (n.82-749C>T) | ClinVar |
| 1 | g.45507463_45507464delinsCA | CA2473783052 | MMACHC | c.189_190delinsCA (p.Leu63=) c.18_19delinsCA (p.Leu6=) c.82-749_82-748delinsCA (n.82-749_82-748delinsCA) | |
| 1 | g.45507464A>C | CA340131737 | MMACHC | c.190A>C (p.Lys64Gln) c.19A>C (p.Lys7Gln) c.82-748A>C (n.82-748A>C) | |
| 1 | g.45507464A>G | CA340131742 | MMACHC | c.190A>G (p.Lys64Glu) c.19A>G (p.Lys7Glu) c.82-748A>G (n.82-748A>G) | |
| 1 | g.45507464A>T | CA340131739 | MMACHC | c.190A>T (p.Lys64Ter) c.19A>T (p.Lys7Ter) c.82-748A>T (n.82-748A>T) | |
| 1 | g.45507465del | CA522810653 | MMACHC | c.191del (p.Lys64SerfsTer12) c.20del (p.Lys7SerfsTer12) c.82-747del (n.82-747del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.45507465A>C | CA340131746 | MMACHC | c.191A>C (p.Lys64Thr) c.20A>C (p.Lys7Thr) c.82-747A>C (n.82-747A>C) | |
| 1 | g.45507465A>G | CA340131748 | MMACHC | c.191A>G (p.Lys64Arg) c.20A>G (p.Lys7Arg) c.82-747A>G (n.82-747A>G) | |
| 1 | g.45507465A>T | CA340131750 | MMACHC | c.191A>T (p.Lys64Met) c.20A>T (p.Lys7Met) c.82-747A>T (n.82-747A>T) | |
| 1 | g.45507466G>A | CA417704617 | MMACHC | c.192G>A (p.Lys64=) c.21G>A (p.Lys7=) c.82-746G>A (n.82-746G>A) | |
| 1 | g.45507466G>C | CA340131751 | MMACHC | c.192G>C (p.Lys64Asn) c.21G>C (p.Lys7Asn) c.82-746G>C (n.82-746G>C) | |
| 1 | g.45507466G>T | CA340131752 | MMACHC | c.192G>T (p.Lys64Asn) c.21G>T (p.Lys7Asn) c.82-746G>T (n.82-746G>T) | |
| 1 | g.45507467C>A | CA340131755 | MMACHC | c.193C>A (p.Pro65Thr) c.22C>A (p.Pro8Thr) c.82-745C>A (n.82-745C>A) | |
| 1 | g.45507467C>G | CA340131757 | MMACHC | c.193C>G (p.Pro65Ala) c.22C>G (p.Pro8Ala) c.82-745C>G (n.82-745C>G) | |
| 1 | g.45507467C>T | CA340131759 | MMACHC | c.193C>T (p.Pro65Ser) c.22C>T (p.Pro8Ser) c.82-745C>T (n.82-745C>T) | |
| 1 | g.45507468C>A | CA340131760 | MMACHC | c.194C>A (p.Pro65His) c.23C>A (p.Pro8His) c.82-744C>A (n.82-744C>A) | |
| 1 | g.45507468C>G | CA340131761 | MMACHC | c.194C>G (p.Pro65Arg) c.23C>G (p.Pro8Arg) c.82-744C>G (n.82-744C>G) | |
| 1 | g.45507468C>T | CA340131762 | MMACHC | c.194C>T (p.Pro65Leu) c.23C>T (p.Pro8Leu) c.82-744C>T (n.82-744C>T) | |
| 1 | g.45507469C>A | CA417704620 | MMACHC | c.195C>A (p.Pro65=) c.24C>A (p.Pro8=) c.82-743C>A (n.82-743C>A) | |
| 1 | g.45507469C= | CA2473783054 | MMACHC | c.195C= (p.Pro65=) c.24C= (p.Pro8=) c.82-743C= (n.82-743C=) | |
| 1 | g.45507469C>G | CA417704619 | MMACHC | c.195C>G (p.Pro65=) c.24C>G (p.Pro8=) c.82-743C>G (n.82-743C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507469C>T | CA417704618 | MMACHC | c.195C>T (p.Pro65=) c.24C>T (p.Pro8=) c.82-743C>T (n.82-743C>T) | gnomAD v4 |
| 1 | g.45507470T>A | CA340131769 | MMACHC | c.196T>A (p.Phe66Ile) c.25T>A (p.Phe9Ile) c.82-742T>A (n.82-742T>A) | |
| 1 | g.45507470T>C | CA340131768 | MMACHC | c.196T>C (p.Phe66Leu) c.25T>C (p.Phe9Leu) c.82-742T>C (n.82-742T>C) | |
| 1 | g.45507470T>G | CA340131765 | MMACHC | c.196T>G (p.Phe66Val) c.25T>G (p.Phe9Val) c.82-742T>G (n.82-742T>G) | |
| 1 | g.45507471T>A | CA340131771 | MMACHC | c.197T>A (p.Phe66Tyr) c.26T>A (p.Phe9Tyr) c.82-741T>A (n.82-741T>A) | COSMIC |
| 1 | g.45507471T>C | CA340131778 | MMACHC | c.197T>C (p.Phe66Ser) c.26T>C (p.Phe9Ser) c.82-741T>C (n.82-741T>C) | |
| 1 | g.45507471T>G | CA340131781 | MMACHC | c.197T>G (p.Phe66Cys) c.26T>G (p.Phe9Cys) c.82-741T>G (n.82-741T>G) | |
| 1 | g.45507472C>A | CA340131784 | MMACHC | c.198C>A (p.Phe66Leu) c.27C>A (p.Phe9Leu) c.82-740C>A (n.82-740C>A) | |
| 1 | g.45507472C>G | CA340131786 | MMACHC | c.198C>G (p.Phe66Leu) c.27C>G (p.Phe9Leu) c.82-740C>G (n.82-740C>G) | gnomAD v4 |
| 1 | g.45507472C>T | CA417704621 | MMACHC | c.198C>T (p.Phe66=) c.27C>T (p.Phe9=) c.82-740C>T (n.82-740C>T) | |
| 1 | g.45507473T>A | CA340131789 | MMACHC | c.199T>A (p.Leu67Met) c.28T>A (p.Leu10Met) c.82-739T>A (n.82-739T>A) | |
| 1 | g.45507473T>C | CA417704622 | MMACHC | c.199T>C (p.Leu67=) c.28T>C (p.Leu10=) c.82-739T>C (n.82-739T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.45507473T>G | CA340131790 | MMACHC | c.199T>G (p.Leu67Val) c.28T>G (p.Leu10Val) c.82-739T>G (n.82-739T>G) | |
| 1 | g.45507473T= | CA2473783055 | MMACHC | c.199T= (p.Leu67=) c.28T= (p.Leu10=) c.82-739T= (n.82-739T=) | |
| 1 | g.45507474T>A | CA340131792 | MMACHC | c.200T>A (p.Leu67Ter) c.29T>A (p.Leu10Ter) c.82-738T>A (n.82-738T>A) | |
| 1 | g.45507474T>C | CA340131796 | MMACHC | c.200T>C (p.Leu67Ser) c.29T>C (p.Leu10Ser) c.82-738T>C (n.82-738T>C) | |
| 1 | g.45507474T>G | CA340131798 | MMACHC | c.200T>G (p.Leu67Trp) c.29T>G (p.Leu10Trp) c.82-738T>G (n.82-738T>G) | |
| 1 | g.45507475G>A | CA417704623 | MMACHC | c.201G>A (p.Leu67=) c.30G>A (p.Leu10=) c.82-737G>A (n.82-737G>A) | dbSNP gnomAD v2 |
| 1 | g.45507475G>C | CA340131800 | MMACHC | c.201G>C (p.Leu67Phe) c.30G>C (p.Leu10Phe) c.82-737G>C (n.82-737G>C) | |
| 1 | g.45507475G= | CA2473783056 | MMACHC | c.201G= (p.Leu67=) c.30G= (p.Leu10=) c.82-737G= (n.82-737G=) | |
| 1 | g.45507475G>T | CA340131802 | MMACHC | c.201G>T (p.Leu67Phe) c.30G>T (p.Leu10Phe) c.82-737G>T (n.82-737G>T) | |
| 1 | g.45507476C>A | CA340131808 | MMACHC | c.202C>A (p.Gln68Lys) c.31C>A (p.Gln11Lys) c.82-736C>A (n.82-736C>A) | |
| 1 | g.45507476C= | CA2473783057 | MMACHC | c.202C= (p.Gln68=) c.31C= (p.Gln11=) c.82-736C= (n.82-736C=) | |
| 1 | g.45507476C>G | CA340131810 | MMACHC | c.202C>G (p.Gln68Glu) c.31C>G (p.Gln11Glu) c.82-736C>G (n.82-736C>G) | |
| 1 | g.45507476C>T | CA340131805 | MMACHC | c.202C>T (p.Gln68Ter) c.31C>T (p.Gln11Ter) c.82-736C>T (n.82-736C>T) | ClinVar dbSNP |
| 1 | g.45507477A>C | CA340131815 | MMACHC | c.203A>C (p.Gln68Pro) c.32A>C (p.Gln11Pro) c.82-735A>C (n.82-735A>C) | |
| 1 | g.45507477A>G | CA340131812 | MMACHC | c.203A>G (p.Gln68Arg) c.32A>G (p.Gln11Arg) c.82-735A>G (n.82-735A>G) | |
| 1 | g.45507477A>T | CA340131817 | MMACHC | c.203A>T (p.Gln68Leu) c.32A>T (p.Gln11Leu) c.82-735A>T (n.82-735A>T) | |
| 1 | g.45507478G>A | CA417704624 | MMACHC | c.204G>A (p.Gln68=) c.33G>A (p.Gln11=) c.82-734G>A (n.82-734G>A) | |
| 1 | g.45507478G>C | CA340131820 | MMACHC | c.204G>C (p.Gln68His) c.33G>C (p.Gln11His) c.82-734G>C (n.82-734G>C) | gnomAD v4 |
| 1 | g.45507478G>T | CA340131821 | MMACHC | c.204G>T (p.Gln68His) c.33G>T (p.Gln11His) c.82-734G>T (n.82-734G>T) | |
| 1 | g.45507479A>C | CA340131823 | MMACHC | c.205A>C (p.Ser69Arg) c.34A>C (p.Ser12Arg) c.82-733A>C (n.82-733A>C) | |
| 1 | g.45507479A>G | CA340131825 | MMACHC | c.205A>G (p.Ser69Gly) c.34A>G (p.Ser12Gly) c.82-733A>G (n.82-733A>G) | |
| 1 | g.45507479A>T | CA340131827 | MMACHC | c.205A>T (p.Ser69Cys) c.34A>T (p.Ser12Cys) c.82-733A>T (n.82-733A>T) | |
| 1 | g.45507480G>A | CA21828878 | MMACHC | c.206G>A (p.Ser69Asn) c.35G>A (p.Ser12Asn) c.82-732G>A (n.82-732G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.45507480G>C | CA340131831 | MMACHC | c.206G>C (p.Ser69Thr) c.35G>C (p.Ser12Thr) c.82-732G>C (n.82-732G>C) | |
| 1 | g.45507480G= | CA1147374438 | MMACHC | c.206G= (p.Ser69=) c.35G= (p.Ser12=) c.82-732G= (n.82-732G=) | |
| 1 | g.45507480G>T | CA340131833 | MMACHC | c.206G>T (p.Ser69Ile) c.35G>T (p.Ser12Ile) c.82-732G>T (n.82-732G>T) | |
| 1 | g.45507481C>A | CA340131835 | MMACHC | c.207C>A (p.Ser69Arg) c.36C>A (p.Ser12Arg) c.82-731C>A (n.82-731C>A) | |
| 1 | g.45507481C= | CA2473783058 | MMACHC | c.207C= (p.Ser69=) c.36C= (p.Ser12=) c.82-731C= (n.82-731C=) | |
| 1 | g.45507481C>G | CA340131836 | MMACHC | c.207C>G (p.Ser69Arg) c.36C>G (p.Ser12Arg) c.82-731C>G (n.82-731C>G) | dbSNP |
| 1 | g.45507481C>T | CA417704625 | MMACHC | c.207C>T (p.Ser69=) c.36C>T (p.Ser12=) c.82-731C>T (n.82-731C>T) | |
| 1 | g.45507482T>A | CA340131839 | MMACHC | c.208T>A (p.Cys70Ser) c.37T>A (p.Cys13Ser) c.82-730T>A (n.82-730T>A) | |
| 1 | g.45507482T>C | CA340131841 | MMACHC | c.208T>C (p.Cys70Arg) c.37T>C (p.Cys13Arg) c.82-730T>C (n.82-730T>C) | |
| 1 | g.45507482T>G | CA340131843 | MMACHC | c.208T>G (p.Cys70Gly) c.37T>G (p.Cys13Gly) c.82-730T>G (n.82-730T>G) | |
| 1 | g.45507483G>A | CA340131849 | MMACHC | c.209G>A (p.Cys70Tyr) c.38G>A (p.Cys13Tyr) c.82-729G>A (n.82-729G>A) | gnomAD v4 COSMIC |
| 1 | g.45507483G>C | CA340131844 | MMACHC | c.209G>C (p.Cys70Ser) c.38G>C (p.Cys13Ser) c.82-729G>C (n.82-729G>C) | |
| 1 | g.45507483G>T | CA340131847 | MMACHC | c.209G>T (p.Cys70Phe) c.38G>T (p.Cys13Phe) c.82-729G>T (n.82-729G>T) | |
| 1 | g.45507484C>A | CA340131851 | MMACHC | c.210C>A (p.Cys70Ter) c.39C>A (p.Cys13Ter) c.82-728C>A (n.82-728C>A) | |
| 1 | g.45507484C>G | CA340131853 | MMACHC | c.210C>G (p.Cys70Trp) c.39C>G (p.Cys13Trp) c.82-728C>G (n.82-728C>G) | |
| 1 | g.45507484C>T | CA417704626 | MMACHC | c.210C>T (p.Cys70=) c.39C>T (p.Cys13=) c.82-728C>T (n.82-728C>T) | ClinVar dbSNP |
| 1 | g.45507485C>A | CA340131855 | MMACHC | c.211C>A (p.His71Asn) c.40C>A (p.His14Asn) c.82-727C>A (n.82-727C>A) | |
| 1 | g.45507485C>G | CA340131857 | MMACHC | c.211C>G (p.His71Asp) c.40C>G (p.His14Asp) c.82-727C>G (n.82-727C>G) | |
| 1 | g.45507485C>T | CA340131859 | MMACHC | c.211C>T (p.His71Tyr) c.40C>T (p.His14Tyr) c.82-727C>T (n.82-727C>T) | |
| 1 | g.45507486A>C | CA340131862 | MMACHC | c.212A>C (p.His71Pro) c.41A>C (p.His14Pro) c.82-726A>C (n.82-726A>C) | |
| 1 | g.45507486A>G | CA340131865 | MMACHC | c.212A>G (p.His71Arg) c.41A>G (p.His14Arg) c.82-726A>G (n.82-726A>G) | |
| 1 | g.45507486A>T | CA340131867 | MMACHC | c.212A>T (p.His71Leu) c.41A>T (p.His14Leu) c.82-726A>T (n.82-726A>T) | |
| 1 | g.45507487C>A | CA340131870 | MMACHC | c.213C>A (p.His71Gln) c.42C>A (p.His14Gln) c.82-725C>A (n.82-725C>A) | |
| 1 | g.45507487C= | CA1148285957 | MMACHC | c.213C= (p.His71=) c.42C= (p.His14=) c.82-725C= (n.82-725C=) | |
| 1 | g.45507487C>G | CA340131872 | MMACHC | c.213C>G (p.His71Gln) c.42C>G (p.His14Gln) c.82-725C>G (n.82-725C>G) | |
| 1 | g.45507487C>T | CA827663 | MMACHC | c.213C>T (p.His71=) c.42C>T (p.His14=) c.82-725C>T (n.82-725C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507488C>A | CA340131880 | MMACHC | c.214C>A (p.Leu72Ile) c.43C>A (p.Leu15Ile) c.82-724C>A (n.82-724C>A) | |
| 1 | g.45507488C>G | CA340131878 | MMACHC | c.214C>G (p.Leu72Val) c.43C>G (p.Leu15Val) c.82-724C>G (n.82-724C>G) | |
| 1 | g.45507488C>T | CA340131876 | MMACHC | c.214C>T (p.Leu72Phe) c.43C>T (p.Leu15Phe) c.82-724C>T (n.82-724C>T) | |
| 1 | g.45507489T>A | CA340131883 | MMACHC | c.215T>A (p.Leu72His) c.44T>A (p.Leu15His) c.82-723T>A (n.82-723T>A) | |
| 1 | g.45507489T>C | CA340131885 | MMACHC | c.215T>C (p.Leu72Pro) c.44T>C (p.Leu15Pro) c.82-723T>C (n.82-723T>C) | |
| 1 | g.45507489T>G | CA340131887 | MMACHC | c.215T>G (p.Leu72Arg) c.44T>G (p.Leu15Arg) c.82-723T>G (n.82-723T>G) | |
| 1 | g.45507490C>A | CA417704627 | MMACHC | c.216C>A (p.Leu72=) c.45C>A (p.Leu15=) c.82-722C>A (n.82-722C>A) | |
| 1 | g.45507490C= | CA2473783059 | MMACHC | c.216C= (p.Leu72=) c.45C= (p.Leu15=) c.82-722C= (n.82-722C=) | |
| 1 | g.45507490C>G | CA417704628 | MMACHC | c.216C>G (p.Leu72=) c.45C>G (p.Leu15=) c.82-722C>G (n.82-722C>G) | |
| 1 | g.45507490C>T | CA417704629 | MMACHC | c.216C>T (p.Leu72=) c.45C>T (p.Leu15=) c.82-722C>T (n.82-722C>T) | dbSNP |
| 1 | g.45507491C>A | CA417704630 | MMACHC | c.217C>A (p.Arg73=) c.46C>A (p.Arg16=) c.82-721C>A (n.82-721C>A) | |
| 1 | g.45507491C= | CA2473783060 | MMACHC | c.217C= (p.Arg73=) c.46C= (p.Arg16=) c.82-721C= (n.82-721C=) | |
| 1 | g.45507491C>G | CA340131890 | MMACHC | c.217C>G (p.Arg73Gly) c.46C>G (p.Arg16Gly) c.82-721C>G (n.82-721C>G) | |
| 1 | g.45507491C>T | CA312728 | MMACHC | c.217C>T (p.Arg73Ter) c.46C>T (p.Arg16Ter) c.82-721C>T (n.82-721C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507492G>A | CA827664 | MMACHC | c.218G>A (p.Arg73Gln) c.47G>A (p.Arg16Gln) c.82-720G>A (n.82-720G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.45507492G>C | CA340131894 | MMACHC | c.218G>C (p.Arg73Pro) c.47G>C (p.Arg16Pro) c.82-720G>C (n.82-720G>C) | |
| 1 | g.45507492G= | CA2473783062 | MMACHC | c.218G= (p.Arg73=) c.47G= (p.Arg16=) c.82-720G= (n.82-720G=) | |
| 1 | g.45507492G>T | CA340131896 | MMACHC | c.218G>T (p.Arg73Leu) c.47G>T (p.Arg16Leu) c.82-720G>T (n.82-720G>T) | |
| 1 | g.45507492_45507493delinsGA | CA2473783061 | MMACHC | c.218_219delinsGA (p.Arg73=) c.47_48delinsGA (p.Arg16=) c.82-720_82-719delinsGA (n.82-720_82-719delinsGA) | |
| 1 | g.45507493A>C | CA417704634 | MMACHC | c.219A>C (p.Arg73=) c.48A>C (p.Arg16=) c.82-719A>C (n.82-719A>C) | |
| 1 | g.45507493A>G | CA417704633 | MMACHC | c.219A>G (p.Arg73=) c.48A>G (p.Arg16=) c.82-719A>G (n.82-719A>G) | |
| 1 | g.45507493A>T | CA417704631 | MMACHC | c.219A>T (p.Arg73=) c.48A>T (p.Arg16=) c.82-719A>T (n.82-719A>T) | |
| 1 | g.45507494del | CA827665 | MMACHC | c.220del (p.Met74CysfsTer2) c.49del (p.Met17CysfsTer2) c.82-718del (n.82-718del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.45507494A>C | CA340131900 | MMACHC | c.220A>C (p.Met74Leu) c.49A>C (p.Met17Leu) c.82-718A>C (n.82-718A>C) | |
| 1 | g.45507494A>G | CA340131901 | MMACHC | c.220A>G (p.Met74Val) c.49A>G (p.Met17Val) c.82-718A>G (n.82-718A>G) | gnomAD v4 |
| 1 | g.45507494A>T | CA340131904 | MMACHC | c.220A>T (p.Met74Leu) c.49A>T (p.Met17Leu) c.82-718A>T (n.82-718A>T) | |
| 1 | g.45507495T>A | CA340131913 | MMACHC | c.221T>A (p.Met74Lys) c.50T>A (p.Met17Lys) c.82-717T>A (n.82-717T>A) | |
| 1 | g.45507495T>C | CA340131910 | MMACHC | c.221T>C (p.Met74Thr) c.50T>C (p.Met17Thr) c.82-717T>C (n.82-717T>C) | gnomAD v4 |
| 1 | g.45507495T>G | CA340131907 | MMACHC | c.221T>G (p.Met74Arg) c.50T>G (p.Met17Arg) c.82-717T>G (n.82-717T>G) | |
| 1 | g.45507496del | CA2645390911 | MMACHC | c.222del (p.Met74IlefsTer2) c.51del (p.Met17IlefsTer2) c.82-716del (n.82-716del) | gnomAD v4 |
| 1 | g.45507496G>A | CA340131915 | MMACHC | c.222G>A (p.Met74Ile) c.51G>A (p.Met17Ile) c.82-716G>A (n.82-716G>A) | |
| 1 | g.45507496G>C | CA827666 | MMACHC | c.222G>C (p.Met74Ile) c.51G>C (p.Met17Ile) c.82-716G>C (n.82-716G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.45507496G= | CA2473783063 | MMACHC | c.222G= (p.Met74=) c.51G= (p.Met17=) c.82-716G= (n.82-716G=) | |
| 1 | g.45507496G>T | CA827667 | MMACHC | c.222G>T (p.Met74Ile) c.51G>T (p.Met17Ile) c.82-716G>T (n.82-716G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.45507496_45507500delinsGCTGA | CA2473783064 | MMACHC | c.222_226delinsGCTGA (p.Met74=) c.51_55delinsGCTGA (p.Met17=) c.82-716_82-712delinsGCTGA (n.82-716_82-712delinsGCTGA) | |
| 1 | g.45507497C>A | CA340131919 | MMACHC | c.223C>A (p.Leu75Met) c.52C>A (p.Leu18Met) c.82-715C>A (n.82-715C>A) | |
| 1 | g.45507497C>G | CA340131922 | MMACHC | c.223C>G (p.Leu75Val) c.52C>G (p.Leu18Val) c.82-715C>G (n.82-715C>G) | |
| 1 | g.45507497C>T | CA417704636 | MMACHC | c.223C>T (p.Leu75=) c.52C>T (p.Leu18=) c.82-715C>T (n.82-715C>T) | COSMIC |
| 1 | g.45507502_45507505del | CA736189248 | MMACHC | c.228_231del (p.Asp77GlnfsTer22) c.57_60del (p.Asp20GlnfsTer22) c.82-710_82-707del (n.82-710_82-707del) | ClinVar dbSNP |
| 1 | g.45507498T>A | CA340131925 | MMACHC | c.224T>A (p.Leu75Gln) c.53T>A (p.Leu18Gln) c.82-714T>A (n.82-714T>A) | |
| 1 | g.45507498T>C | CA340131928 | MMACHC | c.224T>C (p.Leu75Pro) c.53T>C (p.Leu18Pro) c.82-714T>C (n.82-714T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.45507498T>G | CA340131930 | MMACHC | c.224T>G (p.Leu75Arg) c.53T>G (p.Leu18Arg) c.82-714T>G (n.82-714T>G) | |
| 1 | g.45507498T= | CA2473783065 | MMACHC | c.224T= (p.Leu75=) c.53T= (p.Leu18=) c.82-714T= (n.82-714T=) | |
| 1 | g.45507499G>A | CA827668 | MMACHC | c.225G>A (p.Leu75=) c.54G>A (p.Leu18=) c.82-713G>A (n.82-713G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507499G>C | CA417704637 | MMACHC | c.225G>C (p.Leu75=) c.54G>C (p.Leu18=) c.82-713G>C (n.82-713G>C) | |
| 1 | g.45507499G= | CA2473783066 | MMACHC | c.225G= (p.Leu75=) c.54G= (p.Leu18=) c.82-713G= (n.82-713G=) | |
| 1 | g.45507499G>T | CA417704638 | MMACHC | c.225G>T (p.Leu75=) c.54G>T (p.Leu18=) c.82-713G>T (n.82-713G>T) | |
| 1 | g.45507500A>C | CA340131935 | MMACHC | c.226A>C (p.Thr76Pro) c.55A>C (p.Thr19Pro) c.82-712A>C (n.82-712A>C) | |
| 1 | g.45507500A>G | CA340131938 | MMACHC | c.226A>G (p.Thr76Ala) c.55A>G (p.Thr19Ala) c.82-712A>G (n.82-712A>G) | |
| 1 | g.45507500A>T | CA340131940 | MMACHC | c.226A>T (p.Thr76Ser) c.55A>T (p.Thr19Ser) c.82-712A>T (n.82-712A>T) | |
| 1 | g.45507501C>A | CA340131948 | MMACHC | c.227C>A (p.Thr76Asn) c.56C>A (p.Thr19Asn) c.82-711C>A (n.82-711C>A) | gnomAD v4 |
| 1 | g.45507501C= | CA2473783067 | MMACHC | c.227C= (p.Thr76=) c.56C= (p.Thr19=) c.82-711C= (n.82-711C=) | |
| 1 | g.45507501C>G | CA340131945 | MMACHC | c.227C>G (p.Thr76Ser) c.56C>G (p.Thr19Ser) c.82-711C>G (n.82-711C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.45507501C>T | CA340131943 | MMACHC | c.227C>T (p.Thr76Ile) c.56C>T (p.Thr19Ile) c.82-711C>T (n.82-711C>T) | |
| 1 | g.45507502T>A | CA417704639 | MMACHC | c.228T>A (p.Thr76=) c.57T>A (p.Thr19=) c.82-710T>A (n.82-710T>A) | gnomAD v4 |
| 1 | g.45507502T>C | CA417704640 | MMACHC | c.228T>C (p.Thr76=) c.57T>C (p.Thr19=) c.82-710T>C (n.82-710T>C) | |
| 1 | g.45507502T>G | CA417704641 | MMACHC | c.228T>G (p.Thr76=) c.57T>G (p.Thr19=) c.82-710T>G (n.82-710T>G) | |
| 1 | g.45507503G>A | CA340131951 | MMACHC | c.229G>A (p.Asp77Asn) c.58G>A (p.Asp20Asn) c.82-709G>A (n.82-709G>A) | gnomAD v4 |
| 1 | g.45507503G>C | CA340131955 | MMACHC | c.229G>C (p.Asp77His) c.58G>C (p.Asp20His) c.82-709G>C (n.82-709G>C) | |
| 1 | g.45507503G>T | CA340131952 | MMACHC | c.229G>T (p.Asp77Tyr) c.58G>T (p.Asp20Tyr) c.82-709G>T (n.82-709G>T) | |
| 1 | g.45507504A= | CA2473783068 | MMACHC | c.230A= (p.Asp77=) c.59A= (p.Asp20=) c.82-708A= (n.82-708A=) | |
| 1 | g.45507504A>C | CA340131959 | MMACHC | c.230A>C (p.Asp77Ala) c.59A>C (p.Asp20Ala) c.82-708A>C (n.82-708A>C) | |
| 1 | g.45507504A>G | CA340131961 | MMACHC | c.230A>G (p.Asp77Gly) c.59A>G (p.Asp20Gly) c.82-708A>G (n.82-708A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.45507504A>T | CA340131963 | MMACHC | c.230A>T (p.Asp77Val) c.59A>T (p.Asp20Val) c.82-708A>T (n.82-708A>T) | |
| 1 | g.45507505C>A | CA340131966 | MMACHC | c.231C>A (p.Asp77Glu) c.60C>A (p.Asp20Glu) c.82-707C>A (n.82-707C>A) | |
| 1 | g.45507505C>G | CA340131969 | MMACHC | c.231C>G (p.Asp77Glu) c.60C>G (p.Asp20Glu) c.82-707C>G (n.82-707C>G) | |
| 1 | g.45507505C>T | CA417704642 | MMACHC | c.231C>T (p.Asp77=) c.60C>T (p.Asp20=) c.82-707C>T (n.82-707C>T) | ClinVar dbSNP |
| 1 | g.45507506C>A | CA21828902 | MMACHC | c.232C>A (p.Pro78Thr) c.61C>A (p.Pro21Thr) c.82-706C>A (n.82-706C>A) | dbSNP gnomAD v4 |
| 1 | g.45507506C= | CA2473783069 | MMACHC | c.232C= (p.Pro78=) c.61C= (p.Pro21=) c.82-706C= (n.82-706C=) | |
| 1 | g.45507506C>G | CA340131974 | MMACHC | c.232C>G (p.Pro78Ala) c.61C>G (p.Pro21Ala) c.82-706C>G (n.82-706C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507506C>T | CA340131977 | MMACHC | c.232C>T (p.Pro78Ser) c.61C>T (p.Pro21Ser) c.82-706C>T (n.82-706C>T) | |
| 1 | g.45507512_45507519del | CA2645390920 | MMACHC | c.238_245del (p.Asp80CysfsTer9) c.67_74del (p.Asp23CysfsTer9) c.82-700_82-693del (n.82-700_82-693del) | gnomAD v4 |
| 1 | g.45507507C>A | CA340131979 | MMACHC | c.233C>A (p.Pro78Gln) c.62C>A (p.Pro21Gln) c.82-705C>A (n.82-705C>A) | |
| 1 | g.45507507C>G | CA340131982 | MMACHC | c.233C>G (p.Pro78Arg) c.62C>G (p.Pro21Arg) c.82-705C>G (n.82-705C>G) | dbSNP gnomAD v4 |
| 1 | g.45507507C>T | CA340131985 | MMACHC | c.233C>T (p.Pro78Leu) c.62C>T (p.Pro21Leu) c.82-705C>T (n.82-705C>T) | gnomAD v4 |
| 1 | g.45507508A= | CA2473783070 | MMACHC | c.234A= (p.Pro78=) c.63A= (p.Pro21=) c.82-704A= (n.82-704A=) | |
| 1 | g.45507508A>C | CA417704643 | MMACHC | c.234A>C (p.Pro78=) c.63A>C (p.Pro21=) c.82-704A>C (n.82-704A>C) | ClinVar |
| 1 | g.45507508A>G | CA417704644 | MMACHC | c.234A>G (p.Pro78=) c.63A>G (p.Pro21=) c.82-704A>G (n.82-704A>G) | dbSNP |
| 1 | g.45507508A>T | CA417704645 | MMACHC | c.234A>T (p.Pro78=) c.63A>T (p.Pro21=) c.82-704A>T (n.82-704A>T) | |
| 1 | g.45507509G>A | CA340131990 | MMACHC | c.235G>A (p.Val79Met) c.64G>A (p.Val22Met) c.82-703G>A (n.82-703G>A) | |
| 1 | g.45507509G>C | CA340131989 | MMACHC | c.235G>C (p.Val79Leu) c.64G>C (p.Val22Leu) c.82-703G>C (n.82-703G>C) | |
| 1 | g.45507509G>T | CA340131988 | MMACHC | c.235G>T (p.Val79Leu) c.64G>T (p.Val22Leu) c.82-703G>T (n.82-703G>T) | |
| 1 | g.45507510T>A | CA340131991 | MMACHC | c.236T>A (p.Val79Glu) c.65T>A (p.Val22Glu) c.82-702T>A (n.82-702T>A) | |
| 1 | g.45507510T>C | CA340131992 | MMACHC | c.236T>C (p.Val79Ala) c.65T>C (p.Val22Ala) c.82-702T>C (n.82-702T>C) | dbSNP |
| 1 | g.45507510T>G | CA340131993 | MMACHC | c.236T>G (p.Val79Gly) c.65T>G (p.Val22Gly) c.82-702T>G (n.82-702T>G) | |
| 1 | g.45507510T= | CA2473783071 | MMACHC | c.236T= (p.Val79=) c.65T= (p.Val22=) c.82-702T= (n.82-702T=) | |
| 1 | g.45507511G>A | CA417704646 | MMACHC | c.237G>A (p.Val79=) c.66G>A (p.Val22=) c.82-701G>A (n.82-701G>A) | |
| 1 | g.45507511G>C | CA417704647 | MMACHC | c.237G>C (p.Val79=) c.66G>C (p.Val22=) c.82-701G>C (n.82-701G>C) | |
| 1 | g.45507511G>T | CA417704649 | MMACHC | c.237G>T (p.Val79=) c.66G>T (p.Val22=) c.82-701G>T (n.82-701G>T) | |
| 1 | g.45507512G>A | CA340131994 | MMACHC | c.238G>A (p.Asp80Asn) c.67G>A (p.Asp23Asn) c.82-700G>A (n.82-700G>A) | |
| 1 | g.45507512G>C | CA340131995 | MMACHC | c.238G>C (p.Asp80His) c.67G>C (p.Asp23His) c.82-700G>C (n.82-700G>C) | |
| 1 | g.45507512G>T | CA340131996 | MMACHC | c.238G>T (p.Asp80Tyr) c.67G>T (p.Asp23Tyr) c.82-700G>T (n.82-700G>T) | |
| 1 | g.45507513A>C | CA340131997 | MMACHC | c.239A>C (p.Asp80Ala) c.68A>C (p.Asp23Ala) c.82-699A>C (n.82-699A>C) | |
| 1 | g.45507513A>G | CA340131998 | MMACHC | c.239A>G (p.Asp80Gly) c.68A>G (p.Asp23Gly) c.82-699A>G (n.82-699A>G) | gnomAD v4 |
| 1 | g.45507513A>T | CA340131999 | MMACHC | c.239A>T (p.Asp80Val) c.68A>T (p.Asp23Val) c.82-699A>T (n.82-699A>T) | |
| 1 | g.45507514C>A | CA340132000 | MMACHC | c.240C>A (p.Asp80Glu) c.69C>A (p.Asp23Glu) c.82-698C>A (n.82-698C>A) | |
| 1 | g.45507514C= | CA1144206713 | MMACHC | c.240C= (p.Asp80=) c.69C= (p.Asp23=) c.82-698C= (n.82-698C=) | |
| 1 | g.45507514C>G | CA340132001 | MMACHC | c.240C>G (p.Asp80Glu) c.69C>G (p.Asp23Glu) c.82-698C>G (n.82-698C>G) | gnomAD v4 |
| 1 | g.45507514C>T | CA21828905 | MMACHC | c.240C>T (p.Asp80=) c.69C>T (p.Asp23=) c.82-698C>T (n.82-698C>T) | dbSNP gnomAD v4 |