Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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) |