Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.45508255T>A | CA340132184 | MMACHC | c.320T>A (p.Val107Glu) c.149T>A (p.Val50Glu) c.125T>A (p.Val42Glu) | |
1 | g.45508255T>C | CA340132185 | MMACHC | c.320T>C (p.Val107Ala) c.149T>C (p.Val50Ala) c.125T>C (p.Val42Ala) | |
1 | g.45508255T>G | CA340132186 | MMACHC | c.320T>G (p.Val107Gly) c.149T>G (p.Val50Gly) c.125T>G (p.Val42Gly) | |
1 | g.45508256G>A | CA285689 | MMACHC | c.321G>A (p.Val107=) c.150G>A (p.Val50=) c.126G>A (p.Val42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508256G>C | CA417705499 | MMACHC | c.321G>C (p.Val107=) c.150G>C (p.Val50=) c.126G>C (p.Val42=) | dbSNP |
1 | g.45508256G= | CA1139925561 | MMACHC | c.321G= (p.Val107=) c.150G= (p.Val50=) c.126G= (p.Val42=) | |
1 | g.45508256G>T | CA417705498 | MMACHC | c.321G>T (p.Val107=) c.150G>T (p.Val50=) c.126G>T (p.Val42=) | |
1 | g.45508256_45508264delinsACACC | CA2580611161 | MMACHC | c.321_329delinsACACC (p.Asn110AspfsTer13) c.150_158delinsACACC (p.Asn53AspfsTer13) c.126_134delinsACACC (p.Asn45AspfsTer13) | ClinVar |
1 | g.45508257C>A | CA340132187 | MMACHC | c.322C>A (p.His108Asn) c.151C>A (p.His51Asn) c.127C>A (p.His43Asn) | |
1 | g.45508257C= | CA2473783357 | MMACHC | c.322C= (p.His108=) c.151C= (p.His51=) c.127C= (p.His43=) | |
1 | g.45508257C>G | CA340132188 | MMACHC | c.322C>G (p.His108Asp) c.151C>G (p.His51Asp) c.127C>G (p.His43Asp) | |
1 | g.45508257C>T | CA340132189 | MMACHC | c.322C>T (p.His108Tyr) c.151C>T (p.His51Tyr) c.127C>T (p.His43Tyr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508258A>C | CA340132192 | MMACHC | c.323A>C (p.His108Pro) c.152A>C (p.His51Pro) c.128A>C (p.His43Pro) | |
1 | g.45508258A>G | CA340132191 | MMACHC | c.323A>G (p.His108Arg) c.152A>G (p.His51Arg) c.128A>G (p.His43Arg) | gnomAD v4 |
1 | g.45508258A>T | CA340132190 | MMACHC | c.323A>T (p.His108Leu) c.152A>T (p.His51Leu) c.128A>T (p.His43Leu) | |
1 | g.45508259C>A | CA340132193 | MMACHC | c.324C>A (p.His108Gln) c.153C>A (p.His51Gln) c.129C>A (p.His43Gln) | |
1 | g.45508259C>G | CA340132194 | MMACHC | c.324C>G (p.His108Gln) c.153C>G (p.His51Gln) c.129C>G (p.His43Gln) | |
1 | g.45508259C>T | CA417705500 | MMACHC | c.324C>T (p.His108=) c.153C>T (p.His51=) c.129C>T (p.His43=) | |
1 | g.45508262del | CA2645391254 | MMACHC | c.327del (p.Asn110ThrfsTer14) c.156del (p.Asn53ThrfsTer14) c.132del (p.Asn45ThrfsTer14) | gnomAD v4 |
1 | g.45508260C>A | CA340132195 | MMACHC | c.325C>A (p.Pro109Thr) c.154C>A (p.Pro52Thr) c.130C>A (p.Pro44Thr) | |
1 | g.45508260C= | CA2473783359 | MMACHC | c.325C= (p.Pro109=) c.154C= (p.Pro52=) c.130C= (p.Pro44=) | |
1 | g.45508260C>G | CA340132196 | MMACHC | c.325C>G (p.Pro109Ala) c.154C>G (p.Pro52Ala) c.130C>G (p.Pro44Ala) | |
1 | g.45508260C>T | CA340132197 | MMACHC | c.325C>T (p.Pro109Ser) c.154C>T (p.Pro52Ser) c.130C>T (p.Pro44Ser) | |
1 | g.45508260_45508264delinsCCCAA | CA2473783358 | MMACHC | c.325_329delinsCCCAA (p.Pro109=) c.154_158delinsCCCAA (p.Pro52=) c.130_134delinsCCCAA (p.Pro44=) | |
1 | g.45508261C>A | CA340132198 | MMACHC | c.326C>A (p.Pro109His) c.155C>A (p.Pro52His) c.131C>A (p.Pro44His) | |
1 | g.45508261C= | CA1148444789 | MMACHC | c.326C= (p.Pro109=) c.155C= (p.Pro52=) c.131C= (p.Pro44=) | |
1 | g.45508261C>G | CA340132199 | MMACHC | c.326C>G (p.Pro109Arg) c.155C>G (p.Pro52Arg) c.131C>G (p.Pro44Arg) | |
1 | g.45508261C>T | CA827702 | MMACHC | c.326C>T (p.Pro109Leu) c.155C>T (p.Pro52Leu) c.131C>T (p.Pro44Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.45508261_45508262insATTGCTGAC | CA736190161 | MMACHC | c.326_327insATTGCTGAC (p.Pro109_Asn110insLeuLeuThr) c.155_156insATTGCTGAC (p.Pro52_Asn53insLeuLeuThr) c.131_132insATTGCTGAC (p.Pro44_Asn45insLeuLeuThr) | dbSNP |
1 | g.45508263_45508266del | CA312742 | MMACHC | c.328_331del (p.Asn110AspfsTer13) c.157_160del (p.Asn53AspfsTer13) c.133_136del (p.Asn45AspfsTer13) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508261_45508262insATTG | CA1001243618 | MMACHC | c.326_327insATTG (p.Asn110LeufsTer30) c.155_156insATTG (p.Asn53LeufsTer30) c.131_132insATTG (p.Asn45LeufsTer30) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508262C>A | CA417705501 | MMACHC | c.327C>A (p.Pro109=) c.156C>A (p.Pro52=) c.132C>A (p.Pro44=) | |
1 | g.45508262C= | CA2473783360 | MMACHC | c.327C= (p.Pro109=) c.156C= (p.Pro52=) c.132C= (p.Pro44=) | |
1 | g.45508262C>G | CA417705502 | MMACHC | c.327C>G (p.Pro109=) c.156C>G (p.Pro52=) c.132C>G (p.Pro44=) | |
1 | g.45508262C>T | CA417705503 | MMACHC | c.327C>T (p.Pro109=) c.156C>T (p.Pro52=) c.132C>T (p.Pro44=) | dbSNP |
1 | g.45508262_45508264delinsATTGCTGACTAC | CA2573051583 | MMACHC | c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr) c.156_158delinsATTGCTGACTAC (p.Asn53delinsLeuLeuThrThr) c.132_134delinsATTGCTGACTAC (p.Asn45delinsLeuLeuThrThr) | ClinVar dbSNP |
1 | g.45508262_45508263insTGACT | CA1001243631 | MMACHC | c.327_328insTGACT (p.Asn110Ter) c.156_157insTGACT (p.Asn53Ter) c.132_133insTGACT (p.Asn45Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508263A= | CA1144988325 | MMACHC | c.328A= (p.Asn110=) c.157A= (p.Asn53=) c.133A= (p.Asn45=) | |
1 | g.45508263A>C | CA827703 | MMACHC | c.328A>C (p.Asn110His) c.157A>C (p.Asn53His) c.133A>C (p.Asn45His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508263A>G | CA340132200 | MMACHC | c.328A>G (p.Asn110Asp) c.157A>G (p.Asn53Asp) c.133A>G (p.Asn45Asp) | |
1 | g.45508263A>T | CA340132201 | MMACHC | c.328A>T (p.Asn110Tyr) c.157A>T (p.Asn53Tyr) c.133A>T (p.Asn45Tyr) | |
1 | g.45508264A= | CA2473783361 | MMACHC | c.329A= (p.Asn110=) c.158A= (p.Asn53=) c.134A= (p.Asn45=) | |
1 | g.45508264A>C | CA340132203 | MMACHC | c.329A>C (p.Asn110Thr) c.158A>C (p.Asn53Thr) c.134A>C (p.Asn45Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508264A>G | CA827704 | MMACHC | c.329A>G (p.Asn110Ser) c.158A>G (p.Asn53Ser) c.134A>G (p.Asn45Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508264A>T | CA340132202 | MMACHC | c.329A>T (p.Asn110Ile) c.158A>T (p.Asn53Ile) c.134A>T (p.Asn45Ile) | |
1 | g.45508265C>A | CA340132204 | MMACHC | c.330C>A (p.Asn110Lys) c.159C>A (p.Asn53Lys) c.135C>A (p.Asn45Lys) | |
1 | g.45508265C>G | CA340132205 | MMACHC | c.330C>G (p.Asn110Lys) c.159C>G (p.Asn53Lys) c.135C>G (p.Asn45Lys) | |
1 | g.45508265C>T | CA417705504 | MMACHC | c.330C>T (p.Asn110=) c.159C>T (p.Asn53=) c.135C>T (p.Asn45=) | |
1 | g.45508266C>A | CA417705505 | MMACHC | c.331C>A (p.Arg111=) c.160C>A (p.Arg54=) c.136C>A (p.Arg46=) | |
1 | g.45508266C= | CA1141580768 | MMACHC | c.331C= (p.Arg111=) c.160C= (p.Arg54=) c.136C= (p.Arg46=) |