| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101421813_101421833del | CA645547390 | ALDOB | c.1073_1093del (p.Phe358Ter) c.*85_*105del (n.*85_*105del) | COSMIC COSMIC |
| 9 | g.101421825G>A | CA5161384 | ALDOB | c.1079C>T (p.Ala360Val) c.*91C>T (n.*91C>T) | dbSNP ExAC gnomAD v2 |
| 9 | g.101421825G>C | CA374263978 | ALDOB | c.1079C>G (p.Ala360Gly) c.*91C>G (n.*91C>G) | |
| 9 | g.101421825G= | CA1868275604 | ALDOB | c.1079C= (p.Ala360=) c.*91C= (n.*91C=) | |
| 9 | g.101421825G>T | CA374263979 | ALDOB | c.1079C>A (p.Ala360Asp) c.*91C>A (n.*91C>A) | |
| 9 | g.101421826C>A | CA374263980 | ALDOB | c.1078G>T (p.Ala360Ser) c.*90G>T (n.*90G>T) | |
| 9 | g.101421826C= | CA1868275606 | ALDOB | c.1078G= (p.Ala360=) c.*90G= (n.*90G=) | |
| 9 | g.101421826C>G | CA374263981 | ALDOB | c.1078G>C (p.Ala360Pro) c.*90G>C (n.*90G>C) | |
| 9 | g.101421826C>T | CA374263982 | ALDOB | c.1078G>A (p.Ala360Thr) c.*90G>A (n.*90G>A) | dbSNP |
| 9 | g.101421827T>A | CA466461799 | ALDOB | c.1077A>T (p.Thr359=) c.*89A>T (n.*89A>T) | |
| 9 | g.101421827T>C | CA466461800 | ALDOB | c.1077A>G (p.Thr359=) c.*89A>G (n.*89A>G) | dbSNP |
| 9 | g.101421827T>G | CA466461801 | ALDOB | c.1077A>C (p.Thr359=) c.*89A>C (n.*89A>C) | gnomAD v4 |
| 9 | g.101421827T= | CA1868275608 | ALDOB | c.1077A= (p.Thr359=) c.*89A= (n.*89A=) | |
| 9 | g.101421828G>A | CA374263983 | ALDOB | c.1076C>T (p.Thr359Ile) c.*88C>T (n.*88C>T) | |
| 9 | g.101421828G>C | CA374263984 | ALDOB | c.1076C>G (p.Thr359Arg) c.*88C>G (n.*88C>G) | |
| 9 | g.101421828G>T | CA374263985 | ALDOB | c.1076C>A (p.Thr359Lys) c.*88C>A (n.*88C>A) | |
| 9 | g.101421829T>A | CA374263986 | ALDOB | c.1075A>T (p.Thr359Ser) c.*87A>T (n.*87A>T) | |
| 9 | g.101421829T>C | CA374263987 | ALDOB | c.1075A>G (p.Thr359Ala) c.*87A>G (n.*87A>G) | |
| 9 | g.101421829T>G | CA374263988 | ALDOB | c.1075A>C (p.Thr359Pro) c.*87A>C (n.*87A>C) | |
| 9 | g.101421830G>A | CA466461802 | ALDOB | c.1074C>T (p.Phe358=) c.*86C>T (n.*86C>T) | COSMIC |
| 9 | g.101421830G>C | CA374263989 | ALDOB | c.1074C>G (p.Phe358Leu) c.*86C>G (n.*86C>G) | |
| 9 | g.101421830G>T | CA374263990 | ALDOB | c.1074C>A (p.Phe358Leu) c.*86C>A (n.*86C>A) | |
| 9 | g.101421831A>C | CA374263991 | ALDOB | c.1073T>G (p.Phe358Cys) c.*85T>G (n.*85T>G) | |
| 9 | g.101421831A>G | CA374263992 | ALDOB | c.1073T>C (p.Phe358Ser) c.*85T>C (n.*85T>C) | |
| 9 | g.101421831A>T | CA374263993 | ALDOB | c.1073T>A (p.Phe358Tyr) c.*85T>A (n.*85T>A) | |
| 9 | g.101421832A>C | CA374263994 | ALDOB | c.1072T>G (p.Phe358Val) c.*84T>G (n.*84T>G) | |
| 9 | g.101421832A>G | CA374263995 | ALDOB | c.1072T>C (p.Phe358Leu) c.*84T>C (n.*84T>C) | |
| 9 | g.101421832A>T | CA374263996 | ALDOB | c.1072T>A (p.Phe358Ile) c.*84T>A (n.*84T>A) | |
| 9 | g.101421833G>A | CA466461805 | ALDOB | c.1071C>T (p.Leu357=) c.*83C>T (n.*83C>T) | |
| 9 | g.101421833G>C | CA466461804 | ALDOB | c.1071C>G (p.Leu357=) c.*83C>G (n.*83C>G) | |
| 9 | g.101421833G= | CA1868275610 | ALDOB | c.1071C= (p.Leu357=) c.*83C= (n.*83C=) | |
| 9 | g.101421833G>T | CA466461803 | ALDOB | c.1071C>A (p.Leu357=) c.*83C>A (n.*83C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421834A>C | CA374263997 | ALDOB | c.1070T>G (p.Leu357Arg) c.*82T>G (n.*82T>G) | |
| 9 | g.101421834A>G | CA374263998 | ALDOB | c.1070T>C (p.Leu357Pro) c.*82T>C (n.*82T>C) | |
| 9 | g.101421834A>T | CA374263999 | ALDOB | c.1070T>A (p.Leu357His) c.*82T>A (n.*82T>A) | |
| 9 | g.101421835G>A | CA374264000 | ALDOB | c.1069C>T (p.Leu357Phe) c.*81C>T (n.*81C>T) | |
| 9 | g.101421835G>C | CA196955806 | ALDOB | c.1069C>G (p.Leu357Val) c.*81C>G (n.*81C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101421835G= | CA1868275614 | ALDOB | c.1069C= (p.Leu357=) c.*81C= (n.*81C=) | |
| 9 | g.101421835G>T | CA374264001 | ALDOB | c.1069C>A (p.Leu357Ile) c.*81C>A (n.*81C>A) | |
| 9 | g.101421835_101421837del | CA2508682165 | ALDOB | c.1067_1069del (p.Ser356_Leu357delinsPhe) c.*79_*81del (n.*79_*81del) | |
| 9 | g.101421836C>A | CA466461806 | ALDOB | c.1068G>T (p.Ser356=) c.*80G>T (n.*80G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101421836C= | CA1868275616 | ALDOB | c.1068G= (p.Ser356=) c.*80G= (n.*80G=) | |
| 9 | g.101421836C>G | CA466461807 | ALDOB | c.1068G>C (p.Ser356=) c.*80G>C (n.*80G>C) | |
| 9 | g.101421836C>T | CA5161385 | ALDOB | c.1068G>A (p.Ser356=) c.*80G>A (n.*80G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421837G>A | CA5161386 | ALDOB | c.1067C>T (p.Ser356Leu) c.*79C>T (n.*79C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421837G>C | CA374264002 | ALDOB | c.1067C>G (p.Ser356Trp) c.*79C>G (n.*79C>G) | |
| 9 | g.101421837G= | CA1868275622 | ALDOB | c.1067C= (p.Ser356=) c.*79C= (n.*79C=) | |
| 9 | g.101421837G>T | CA374264003 | ALDOB | c.1067C>A (p.Ser356Ter) c.*79C>A (n.*79C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101421838A>C | CA374264004 | ALDOB | c.1066T>G (p.Ser356Ala) c.*78T>G (n.*78T>G) | |
| 9 | g.101421838A>G | CA374264005 | ALDOB | c.1066T>C (p.Ser356Pro) c.*78T>C (n.*78T>C) | gnomAD v4 |
| 9 | g.101421838A>T | CA374264006 | ALDOB | c.1066T>A (p.Ser356Thr) c.*78T>A (n.*78T>A) | |
| 9 | g.101421839C>A | CA374264007 | ALDOB | c.1065G>T (p.Gln355His) c.*77G>T (n.*77G>T) | |
| 9 | g.101421839C= | CA1868275626 | ALDOB | c.1065G= (p.Gln355=) c.*77G= (n.*77G=) | |
| 9 | g.101421839C>G | CA374264008 | ALDOB | c.1065G>C (p.Gln355His) c.*77G>C (n.*77G>C) | |
| 9 | g.101421839C>T | CA466461808 | ALDOB | c.1065G>A (p.Gln355=) c.*77G>A (n.*77G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101421840T>A | CA374264009 | ALDOB | c.1064A>T (p.Gln355Leu) c.*76A>T (n.*76A>T) | |
| 9 | g.101421840T>C | CA5161387 | ALDOB | c.1064A>G (p.Gln355Arg) c.*76A>G (n.*76A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101421840T>G | CA374264010 | ALDOB | c.1064A>C (p.Gln355Pro) c.*76A>C (n.*76A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101421840T= | CA1868275628 | ALDOB | c.1064A= (p.Gln355=) c.*76A= (n.*76A=) | |
| 9 | g.101421841G>A | CA374264011 | ALDOB | c.1063C>T (p.Gln355Ter) c.*75C>T (n.*75C>T) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101421841G>C | CA374264012 | ALDOB | c.1063C>G (p.Gln355Glu) c.*75C>G (n.*75C>G) | |
| 9 | g.101421841G= | CA1868275636 | ALDOB | c.1063C= (p.Gln355=) c.*75C= (n.*75C=) | |
| 9 | g.101421841G>T | CA374264013 | ALDOB | c.1063C>A (p.Gln355Lys) c.*75C>A (n.*75C>A) | gnomAD v4 |
| 9 | g.101421842G>A | CA466461809 | ALDOB | c.1062C>T (p.Thr354=) c.*74C>T (n.*74C>T) | ClinVar dbSNP |
| 9 | g.101421842G>C | CA5161388 | ALDOB | c.1062C>G (p.Thr354=) c.*74C>G (n.*74C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421842G= | CA1868275643 | ALDOB | c.1062C= (p.Thr354=) c.*74C= (n.*74C=) | |
| 9 | g.101421842G>T | CA466461810 | ALDOB | c.1062C>A (p.Thr354=) c.*74C>A (n.*74C>A) | |
| 9 | g.101421843G>A | CA374264014 | ALDOB | c.1061C>T (p.Thr354Ile) c.*73C>T (n.*73C>T) | |
| 9 | g.101421843G>C | CA374264016 | ALDOB | c.1061C>G (p.Thr354Ser) c.*73C>G (n.*73C>G) | |
| 9 | g.101421843G>T | CA374264015 | ALDOB | c.1061C>A (p.Thr354Asn) c.*73C>A (n.*73C>A) | |
| 9 | g.101421844T>A | CA374264017 | ALDOB | c.1060A>T (p.Thr354Ser) c.*72A>T (n.*72A>T) | |
| 9 | g.101421844T>C | CA374264019 | ALDOB | c.1060A>G (p.Thr354Ala) c.*72A>G (n.*72A>G) | |
| 9 | g.101421844T>G | CA374264018 | ALDOB | c.1060A>C (p.Thr354Pro) c.*72A>C (n.*72A>C) | dbSNP |
| 9 | g.101421844T= | CA1868275645 | ALDOB | c.1060A= (p.Thr354=) c.*72A= (n.*72A=) | |
| 9 | g.101421845G>A | CA466461811 | ALDOB | c.1059C>T (p.Ser353=) c.*71C>T (n.*71C>T) | ClinVar |
| 9 | g.101421845G>C | CA466461812 | ALDOB | c.1059C>G (p.Ser353=) c.*71C>G (n.*71C>G) | |
| 9 | g.101421845G>T | CA466461813 | ALDOB | c.1059C>A (p.Ser353=) c.*71C>A (n.*71C>A) | |
| 9 | g.101421846G>A | CA374264020 | ALDOB | c.1058C>T (p.Ser353Phe) c.*70C>T (n.*70C>T) | |
| 9 | g.101421846G>C | CA374264021 | ALDOB | c.1058C>G (p.Ser353Cys) c.*70C>G (n.*70C>G) | |
| 9 | g.101421846G>T | CA374264022 | ALDOB | c.1058C>A (p.Ser353Tyr) c.*70C>A (n.*70C>A) | |
| 9 | g.101421847A= | CA1868275648 | ALDOB | c.1057T= (p.Ser353=) c.*69T= (n.*69T=) | |
| 9 | g.101421847A>C | CA374264023 | ALDOB | c.1057T>G (p.Ser353Ala) c.*69T>G (n.*69T>G) | dbSNP |
| 9 | g.101421847A>G | CA5161389 | ALDOB | c.1057T>C (p.Ser353Pro) c.*69T>C (n.*69T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101421847A>T | CA374264024 | ALDOB | c.1057T>A (p.Ser353Thr) c.*69T>A (n.*69T>A) | |
| 9 | g.101421847_101421851del | CA2533753277 | ALDOB | c.1053_1057del (p.Ala352HisfsTer?) c.*65_*69del (n.*65_*69del) | |
| 9 | g.101421848A>C | CA466461814 | ALDOB | c.1056T>G (p.Ala352=) c.*68T>G (n.*68T>G) | |
| 9 | g.101421848A>G | CA466461815 | ALDOB | c.1056T>C (p.Ala352=) c.*68T>C (n.*68T>C) | |
| 9 | g.101421848A>T | CA466461816 | ALDOB | c.1056T>A (p.Ala352=) c.*68T>A (n.*68T>A) | |
| 9 | g.101421849G>A | CA374264025 | ALDOB | c.1055C>T (p.Ala352Val) c.*67C>T (n.*67C>T) | gnomAD v4 |
| 9 | g.101421849G>C | CA374264026 | ALDOB | c.1055C>G (p.Ala352Gly) c.*67C>G (n.*67C>G) | |
| 9 | g.101421849G>T | CA374264027 | ALDOB | c.1055C>A (p.Ala352Asp) c.*67C>A (n.*67C>A) | |
| 9 | g.101421850C>A | CA5161390 | ALDOB | c.1054G>T (p.Ala352Ser) c.*66G>T (n.*66G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101421850C= | CA1868275650 | ALDOB | c.1054G= (p.Ala352=) c.*66G= (n.*66G=) | |
| 9 | g.101421850C>G | CA374264028 | ALDOB | c.1054G>C (p.Ala352Pro) c.*66G>C (n.*66G>C) | |
| 9 | g.101421850C>T | CA374264029 | ALDOB | c.1054G>A (p.Ala352Thr) c.*66G>A (n.*66G>A) | |
| 9 | g.101421851A>C | CA466461817 | ALDOB | c.1053T>G (p.Ala351=) c.*65T>G (n.*65T>G) | |
| 9 | g.101421851A>G | CA466461819 | ALDOB | c.1053T>C (p.Ala351=) c.*65T>C (n.*65T>C) | |
| 9 | g.101421851A>T | CA466461818 | ALDOB | c.1053T>A (p.Ala351=) c.*65T>A (n.*65T>A) | |
| 9 | g.101421852G>A | CA374264032 | ALDOB | c.1052C>T (p.Ala351Val) c.*64C>T (n.*64C>T) | gnomAD v4 |
| 9 | g.101421852G>C | CA374264030 | ALDOB | c.1052C>G (p.Ala351Gly) c.*64C>G (n.*64C>G) | |
| 9 | g.101421852G>T | CA374264031 | ALDOB | c.1052C>A (p.Ala351Asp) c.*64C>A (n.*64C>A) | |
| 9 | g.101421853C>A | CA374264033 | ALDOB | c.1051G>T (p.Ala351Ser) c.*63G>T (n.*63G>T) | |
| 9 | g.101421853C= | CA1868275652 | ALDOB | c.1051G= (p.Ala351=) c.*63G= (n.*63G=) | |
| 9 | g.101421853C>G | CA374264034 | ALDOB | c.1051G>C (p.Ala351Pro) c.*63G>C (n.*63G>C) | |
| 9 | g.101421853C>T | CA374264035 | ALDOB | c.1051G>A (p.Ala351Thr) c.*63G>A (n.*63G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101421854C>A | CA466461820 | ALDOB | c.1050G>T (p.Gly350=) c.*62G>T (n.*62G>T) | dbSNP |
| 9 | g.101421854C= | CA1868275660 | ALDOB | c.1050G= (p.Gly350=) c.*62G= (n.*62G=) | |
| 9 | g.101421854C>G | CA466461821 | ALDOB | c.1050G>C (p.Gly350=) c.*62G>C (n.*62G>C) | |
| 9 | g.101421854C>T | CA466461822 | ALDOB | c.1050G>A (p.Gly350=) c.*62G>A (n.*62G>A) | |
| 9 | g.101421854_101421855delinsTT | CA645547391 | ALDOB | c.1049_1050delinsAA (p.Gly350Glu) c.*61_*62delinsAA (n.*61_*62delinsAA) | COSMIC |
| 9 | g.101421854_101421863delinsCCCAGAAGAA | CA1868275658 | ALDOB | c.1041_1050delinsTTCTTCTGGG (p.Gly347=) c.*53_*62delinsTTCTTCTGGG (n.*53_*62delinsTTCTTCTGGG) | |
| 9 | g.101421855C>A | CA374264036 | ALDOB | c.1049G>T (p.Gly350Val) c.*61G>T (n.*61G>T) | gnomAD v4 |
| 9 | g.101421855C= | CA1868275663 | ALDOB | c.1049G= (p.Gly350=) c.*61G= (n.*61G=) | |
| 9 | g.101421855C>G | CA5161391 | ALDOB | c.1049G>C (p.Gly350Ala) c.*61G>C (n.*61G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421855C>T | CA196955818 | ALDOB | c.1049G>A (p.Gly350Glu) c.*61G>A (n.*61G>A) | dbSNP |
| 9 | g.101421855_101421860delinsAGTGT | CA2499219510 | ALDOB | c.1044_1049delinsACACT (p.Ser349HisfsTer24) c.*56_*61delinsACACT (n.*56_*61delinsACACT) | ClinVar dbSNP |
| 9 | g.101421857_101421865del | CA589815522 | ALDOB | c.1041_1049del (p.Ser348_Gly350del) c.*53_*61del (n.*53_*61del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421856C>A | CA374264037 | ALDOB | c.1048G>T (p.Gly350Trp) c.*60G>T (n.*60G>T) | |
| 9 | g.101421856C= | CA1868275666 | ALDOB | c.1048G= (p.Gly350=) c.*60G= (n.*60G=) | |
| 9 | g.101421856C>G | CA374264038 | ALDOB | c.1048G>C (p.Gly350Arg) c.*60G>C (n.*60G>C) | |
| 9 | g.101421856C>T | CA374264039 | ALDOB | c.1048G>A (p.Gly350Arg) c.*60G>A (n.*60G>A) | dbSNP |
| 9 | g.101421856_101421857insGTATCATT | CA2569935629 | ALDOB | c.1047_1048insAATGATAC (p.Gly350AsnfsTer26) c.*59_*60insAATGATAC (n.*59_*60insAATGATAC) | |
| 9 | g.101421857A= | CA1868275668 | ALDOB | c.1047T= (p.Ser349=) c.*59T= (n.*59T=) | |
| 9 | g.101421857A>C | CA466461823 | ALDOB | c.1047T>G (p.Ser349=) c.*59T>G (n.*59T>G) | |
| 9 | g.101421857A>G | CA5161392 | ALDOB | c.1047T>C (p.Ser349=) c.*59T>C (n.*59T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421857A>T | CA466461824 | ALDOB | c.1047T>A (p.Ser349=) c.*59T>A (n.*59T>A) | dbSNP |
| 9 | g.101421858G>A | CA374264042 | ALDOB | c.1046C>T (p.Ser349Phe) c.*58C>T (n.*58C>T) | |
| 9 | g.101421858G>C | CA374264041 | ALDOB | c.1046C>G (p.Ser349Cys) c.*58C>G (n.*58C>G) | |
| 9 | g.101421858G>T | CA374264040 | ALDOB | c.1046C>A (p.Ser349Tyr) c.*58C>A (n.*58C>A) | |
| 9 | g.101421859A>C | CA374264043 | ALDOB | c.1045T>G (p.Ser349Ala) c.*57T>G (n.*57T>G) | |
| 9 | g.101421859A>G | CA374264044 | ALDOB | c.1045T>C (p.Ser349Pro) c.*57T>C (n.*57T>C) | |
| 9 | g.101421859A>T | CA374264045 | ALDOB | c.1045T>A (p.Ser349Thr) c.*57T>A (n.*57T>A) | |
| 9 | g.101421860A>C | CA466461825 | ALDOB | c.1044T>G (p.Ser348=) c.*56T>G (n.*56T>G) | |
| 9 | g.101421860A>G | CA466461826 | ALDOB | c.1044T>C (p.Ser348=) c.*56T>C (n.*56T>C) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101421860A>T | CA466461827 | ALDOB | c.1044T>A (p.Ser348=) c.*56T>A (n.*56T>A) | |
| 9 | g.101421861G>A | CA374264046 | ALDOB | c.1043C>T (p.Ser348Phe) c.*55C>T (n.*55C>T) | COSMIC |
| 9 | g.101421861G>C | CA374264047 | ALDOB | c.1043C>G (p.Ser348Cys) c.*55C>G (n.*55C>G) | |
| 9 | g.101421861G>T | CA374264048 | ALDOB | c.1043C>A (p.Ser348Tyr) c.*55C>A (n.*55C>A) | |
| 9 | g.101421862A>C | CA374264049 | ALDOB | c.1042T>G (p.Ser348Ala) c.*54T>G (n.*54T>G) | |
| 9 | g.101421862A>G | CA374264050 | ALDOB | c.1042T>C (p.Ser348Pro) c.*54T>C (n.*54T>C) | |
| 9 | g.101421862A>T | CA374264051 | ALDOB | c.1042T>A (p.Ser348Thr) c.*54T>A (n.*54T>A) | |
| 9 | g.101421863A= | CA1868275672 | ALDOB | c.1041T= (p.Gly347=) c.*53T= (n.*53T=) | |
| 9 | g.101421863A>C | CA466461828 | ALDOB | c.1041T>G (p.Gly347=) c.*53T>G (n.*53T>G) | |
| 9 | g.101421863A>G | CA466461829 | ALDOB | c.1041T>C (p.Gly347=) c.*53T>C (n.*53T>C) | dbSNP |
| 9 | g.101421863A>T | CA466461830 | ALDOB | c.1041T>A (p.Gly347=) c.*53T>A (n.*53T>A) | |
| 9 | g.101421864C>A | CA374264052 | ALDOB | c.1040G>T (p.Gly347Val) c.*52G>T (n.*52G>T) | |
| 9 | g.101421864C>G | CA374264053 | ALDOB | c.1040G>C (p.Gly347Ala) c.*52G>C (n.*52G>C) | |
| 9 | g.101421864C>T | CA374264054 | ALDOB | c.1040G>A (p.Gly347Asp) c.*52G>A (n.*52G>A) | |
| 9 | g.101421866del | CA2691006413 | ALDOB | c.1040del (p.Gly347ValfsTer26) c.*52del (n.*52del) | gnomAD v4 |
| 9 | g.101421865C>A | CA374264057 | ALDOB | c.1039G>T (p.Gly347Cys) c.*51G>T (n.*51G>T) | gnomAD v4 |
| 9 | g.101421865C>G | CA374264056 | ALDOB | c.1039G>C (p.Gly347Arg) c.*51G>C (n.*51G>C) | |
| 9 | g.101421865C>T | CA374264055 | ALDOB | c.1039G>A (p.Gly347Ser) c.*51G>A (n.*51G>A) | gnomAD v4 |
| 9 | g.101421866C>A | CA466461831 | ALDOB | c.1038G>T (p.Thr346=) c.*50G>T (n.*50G>T) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101421866C= | CA1868275675 | ALDOB | c.1038G= (p.Thr346=) c.*50G= (n.*50G=) | |
| 9 | g.101421866C>G | CA466461832 | ALDOB | c.1038G>C (p.Thr346=) c.*50G>C (n.*50G>C) | |
| 9 | g.101421866C>T | CA5161393 | ALDOB | c.1038G>A (p.Thr346=) c.*50G>A (n.*50G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421867G>A | CA5161394 | ALDOB | c.1037C>T (p.Thr346Met) c.*49C>T (n.*49C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421867G>C | CA374264058 | ALDOB | c.1037C>G (p.Thr346Arg) c.*49C>G (n.*49C>G) | |
| 9 | g.101421867G= | CA1868275679 | ALDOB | c.1037C= (p.Thr346=) c.*49C= (n.*49C=) | |
| 9 | g.101421867G>T | CA374264059 | ALDOB | c.1037C>A (p.Thr346Lys) c.*49C>A (n.*49C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101421868T>A | CA374264060 | ALDOB | c.1036A>T (p.Thr346Ser) c.*48A>T (n.*48A>T) | |
| 9 | g.101421868T>C | CA374264061 | ALDOB | c.1036A>G (p.Thr346Ala) c.*48A>G (n.*48A>G) | |
| 9 | g.101421868T>G | CA374264062 | ALDOB | c.1036A>C (p.Thr346Pro) c.*48A>C (n.*48A>C) | |
| 9 | g.101421869G>A | CA5161395 | ALDOB | c.1035C>T (p.His345=) c.*47C>T (n.*47C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421869G>C | CA374264063 | ALDOB | c.1035C>G (p.His345Gln) c.*47C>G (n.*47C>G) | |
| 9 | g.101421869G= | CA1868275684 | ALDOB | c.1035C= (p.His345=) c.*47C= (n.*47C=) | |
| 9 | g.101421869G>T | CA374264064 | ALDOB | c.1035C>A (p.His345Gln) c.*47C>A (n.*47C>A) | dbSNP |
| 9 | g.101421870T>A | CA374264065 | ALDOB | c.1034A>T (p.His345Leu) c.*46A>T (n.*46A>T) | |
| 9 | g.101421870T>C | CA374264066 | ALDOB | c.1034A>G (p.His345Arg) c.*46A>G (n.*46A>G) | |
| 9 | g.101421870T>G | CA374264067 | ALDOB | c.1034A>C (p.His345Pro) c.*46A>C (n.*46A>C) | |
| 9 | g.101421871G>A | CA5161396 | ALDOB | c.1033C>T (p.His345Tyr) c.*45C>T (n.*45C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101421871G>C | CA374264069 | ALDOB | c.1033C>G (p.His345Asp) c.*45C>G (n.*45C>G) | |
| 9 | g.101421871G= | CA1868275688 | ALDOB | c.1033C= (p.His345=) c.*45C= (n.*45C=) | |
| 9 | g.101421871G>T | CA374264068 | ALDOB | c.1033C>A (p.His345Asn) c.*45C>A (n.*45C>A) | |
| 9 | g.101421872A>C | CA466461834 | ALDOB | c.1032T>G (p.Val344=) c.*44T>G (n.*44T>G) | |
| 9 | g.101421872A>G | CA466461835 | ALDOB | c.1032T>C (p.Val344=) c.*44T>C (n.*44T>C) | |
| 9 | g.101421872A>T | CA466461833 | ALDOB | c.1032T>A (p.Val344=) c.*44T>A (n.*44T>A) | |
| 9 | g.101421873A>C | CA374264071 | ALDOB | c.1031T>G (p.Val344Gly) c.*43T>G (n.*43T>G) | |
| 9 | g.101421873A>G | CA374264070 | ALDOB | c.1031T>C (p.Val344Ala) c.*43T>C (n.*43T>C) | |
| 9 | g.101421873A>T | CA374264072 | ALDOB | c.1031T>A (p.Val344Asp) c.*43T>A (n.*43T>A) | |
| 9 | g.101421874C>A | CA374264073 | ALDOB | c.1030G>T (p.Val344Phe) c.*42G>T (n.*42G>T) | |
| 9 | g.101421874C= | CA1868275691 | ALDOB | c.1030G= (p.Val344=) c.*42G= (n.*42G=) | |
| 9 | g.101421874C>G | CA374264075 | ALDOB | c.1030G>C (p.Val344Leu) c.*42G>C (n.*42G>C) | |
| 9 | g.101421874C>T | CA374264074 | ALDOB | c.1030G>A (p.Val344Ile) c.*42G>A (n.*42G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101421875A= | CA1868275695 | ALDOB | c.1029T= (p.Tyr343=) c.*41T= (n.*41T=) | |
| 9 | g.101421875A>C | CA374264076 | ALDOB | c.1029T>G (p.Tyr343Ter) c.*41T>G (n.*41T>G) | |
| 9 | g.101421875A>G | CA466461836 | ALDOB | c.1029T>C (p.Tyr343=) c.*41T>C (n.*41T>C) | dbSNP gnomAD v4 |
| 9 | g.101421875A>T | CA374264077 | ALDOB | c.1029T>A (p.Tyr343Ter) c.*41T>A (n.*41T>A) | |
| 9 | g.101421876T>A | CA374264078 | ALDOB | c.1028A>T (p.Tyr343Phe) c.*40A>T (n.*40A>T) | |
| 9 | g.101421876T>C | CA374264080 | ALDOB | c.1028A>G (p.Tyr343Cys) c.*40A>G (n.*40A>G) | dbSNP gnomAD v4 |
| 9 | g.101421876T>G | CA374264079 | ALDOB | c.1028A>C (p.Tyr343Ser) c.*40A>C (n.*40A>C) | |
| 9 | g.101421876T= | CA1868275698 | ALDOB | c.1028A= (p.Tyr343=) c.*40A= (n.*40A=) | |
| 9 | g.101421877A= | CA1868275701 | ALDOB | c.1027T= (p.Tyr343=) c.*39T= (n.*39T=) | |
| 9 | g.101421877A>C | CA374264081 | ALDOB | c.1027T>G (p.Tyr343Asp) c.*39T>G (n.*39T>G) | |
| 9 | g.101421877A>G | CA129581 | ALDOB | c.1027T>C (p.Tyr343His) c.*39T>C (n.*39T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421877A>T | CA374264082 | ALDOB | c.1027T>A (p.Tyr343Asn) c.*39T>A (n.*39T>A) | |
| 9 | g.101421878C>A | CA374264083 | ALDOB | c.1026G>T (p.Gln342His) c.*38G>T (n.*38G>T) | |
| 9 | g.101421878C= | CA1868275706 | ALDOB | c.1026G= (p.Gln342=) c.*38G= (n.*38G=) | |
| 9 | g.101421878C>G | CA374264084 | ALDOB | c.1026G>C (p.Gln342His) c.*38G>C (n.*38G>C) | gnomAD v4 |
| 9 | g.101421878C>T | CA196955827 | ALDOB | c.1026G>A (p.Gln342=) c.*38G>A (n.*38G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101421879T>A | CA374264085 | ALDOB | c.1025A>T (p.Gln342Leu) c.*37A>T (n.*37A>T) | |
| 9 | g.101421879T>C | CA374264086 | ALDOB | c.1025A>G (p.Gln342Arg) c.*37A>G (n.*37A>G) | gnomAD v4 |
| 9 | g.101421879T>G | CA374264087 | ALDOB | c.1025A>C (p.Gln342Pro) c.*37A>C (n.*37A>C) | |
| 9 | g.101421880G>A | CA374264088 | ALDOB | c.1024C>T (p.Gln342Ter) c.*36C>T (n.*36C>T) | |
| 9 | g.101421880G>C | CA374264089 | ALDOB | c.1024C>G (p.Gln342Glu) c.*36C>G (n.*36C>G) | gnomAD v4 |
| 9 | g.101421880G>T | CA374264090 | ALDOB | c.1024C>A (p.Gln342Lys) c.*36C>A (n.*36C>A) | |
| 9 | g.101421881T>A | CA466461837 | ALDOB | c.1023A>T (p.Gly341=) c.*35A>T (n.*35A>T) | |
| 9 | g.101421881T>C | CA466461838 | ALDOB | c.1023A>G (p.Gly341=) c.*35A>G (n.*35A>G) | gnomAD v4 |
| 9 | g.101421881T>G | CA466461839 | ALDOB | c.1023A>C (p.Gly341=) c.*35A>C (n.*35A>C) | |
| 9 | g.101421882C>A | CA374264093 | ALDOB | c.1022G>T (p.Gly341Val) c.*34G>T (n.*34G>T) | |
| 9 | g.101421882C>G | CA374264092 | ALDOB | c.1022G>C (p.Gly341Ala) c.*34G>C (n.*34G>C) | |
| 9 | g.101421882C>T | CA374264091 | ALDOB | c.1022G>A (p.Gly341Glu) c.*34G>A (n.*34G>A) | gnomAD v4 |
| 9 | g.101421883C>A | CA374264094 | ALDOB | c.1021G>T (p.Gly341Ter) c.*33G>T (n.*33G>T) | |
| 9 | g.101421883C= | CA1868275709 | ALDOB | c.1021G= (p.Gly341=) c.*33G= (n.*33G=) | |
| 9 | g.101421883C>G | CA374264095 | ALDOB | c.1021G>C (p.Gly341Arg) c.*33G>C (n.*33G>C) | |
| 9 | g.101421883C>T | CA5161397 | ALDOB | c.1021G>A (p.Gly341Arg) c.*33G>A (n.*33G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.101421884T>A | CA374264096 | ALDOB | c.1020A>T (p.Lys340Asn) c.*32A>T (n.*32A>T) | |
| 9 | g.101421884T>C | CA466461840 | ALDOB | c.1020A>G (p.Lys340=) c.*32A>G (n.*32A>G) | |
| 9 | g.101421884T>G | CA374264097 | ALDOB | c.1020A>C (p.Lys340Asn) c.*32A>C (n.*32A>C) | |
| 9 | g.101421885T>A | CA374264098 | ALDOB | c.1019A>T (p.Lys340Ile) c.*31A>T (n.*31A>T) | dbSNP |
| 9 | g.101421885T>C | CA374264099 | ALDOB | c.1019A>G (p.Lys340Arg) c.*31A>G (n.*31A>G) | |
| 9 | g.101421885T>G | CA374264100 | ALDOB | c.1019A>C (p.Lys340Thr) c.*31A>C (n.*31A>C) | gnomAD v4 |
| 9 | g.101421885T= | CA1868275713 | ALDOB | c.1019A= (p.Lys340=) c.*31A= (n.*31A=) | |
| 9 | g.101421886T>A | CA374264101 | ALDOB | c.1018A>T (p.Lys340Ter) c.*30A>T (n.*30A>T) | |
| 9 | g.101421886T>C | CA374264102 | ALDOB | c.1018A>G (p.Lys340Glu) c.*30A>G (n.*30A>G) | |
| 9 | g.101421886T>G | CA374264103 | ALDOB | c.1018A>C (p.Lys340Gln) c.*30A>C (n.*30A>C) | dbSNP |
| 9 | g.101421886T= | CA1868275717 | ALDOB | c.1018A= (p.Lys340=) c.*30A= (n.*30A=) | |
| 9 | g.101421887G>A | CA466461841 | ALDOB | c.1017C>T (p.Ala339=) c.*29C>T (n.*29C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421887G>C | CA466461842 | ALDOB | c.1017C>G (p.Ala339=) c.*29C>G (n.*29C>G) | |
| 9 | g.101421887G= | CA1868275719 | ALDOB | c.1017C= (p.Ala339=) c.*29C= (n.*29C=) | |
| 9 | g.101421887G>T | CA466461843 | ALDOB | c.1017C>A (p.Ala339=) c.*29C>A (n.*29C>A) | |
| 9 | g.101421888G>A | CA374264106 | ALDOB | c.1016C>T (p.Ala339Val) c.*28C>T (n.*28C>T) | |
| 9 | g.101421888G>C | CA374264105 | ALDOB | c.1016C>G (p.Ala339Gly) c.*28C>G (n.*28C>G) | |
| 9 | g.101421888G>T | CA374264104 | ALDOB | c.1016C>A (p.Ala339Asp) c.*28C>A (n.*28C>A) | |
| 9 | g.101421889C>A | CA374264107 | ALDOB | c.1015G>T (p.Ala339Ser) c.*27G>T (n.*27G>T) | |
| 9 | g.101421889C>G | CA374264108 | ALDOB | c.1015G>C (p.Ala339Pro) c.*27G>C (n.*27G>C) | |
| 9 | g.101421889C>T | CA374264109 | ALDOB | c.1015G>A (p.Ala339Thr) c.*27G>A (n.*27G>A) | gnomAD v4 |
| 9 | g.101421890C>A | CA466461844 | ALDOB | c.1014G>T (p.Ala338=) c.*26G>T (n.*26G>T) | |
| 9 | g.101421890C= | CA1868275724 | ALDOB | c.1014G= (p.Ala338=) c.*26G= (n.*26G=) | |
| 9 | g.101421890C>G | CA466461845 | ALDOB | c.1014G>C (p.Ala338=) c.*26G>C (n.*26G>C) | |
| 9 | g.101421890C>T | CA5161398 | ALDOB | c.1014G>A (p.Ala338=) c.*26G>A (n.*26G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421891G>A | CA199050 | ALDOB | c.1013C>T (p.Ala338Val) c.*25C>T (n.*25C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101421891G>C | CA5161399 | ALDOB | c.1013C>G (p.Ala338Gly) c.*25C>G (n.*25C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421891G= | CA1868275732 | ALDOB | c.1013C= (p.Ala338=) c.*25C= (n.*25C=) | |
| 9 | g.101421891G>T | CA374264110 | ALDOB | c.1013C>A (p.Ala338Glu) c.*25C>A (n.*25C>A) | dbSNP gnomAD v4 |
| 9 | g.101421892C>A | CA374264111 | ALDOB | c.1012G>T (p.Ala338Ser) c.*24G>T (n.*24G>T) | COSMIC |
| 9 | g.101421892C>G | CA374264112 | ALDOB | c.1012G>C (p.Ala338Pro) c.*24G>C (n.*24G>C) | |
| 9 | g.101421892C>T | CA374264113 | ALDOB | c.1012G>A (p.Ala338Thr) c.*24G>A (n.*24G>A) | gnomAD v4 |
| 9 | g.101421893C>A | CA374264114 | ALDOB | c.1011G>T (p.Gln337His) c.*23G>T (n.*23G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101421893C= | CA1868275737 | ALDOB | c.1011G= (p.Gln337=) c.*23G= (n.*23G=) | |
| 9 | g.101421893C>G | CA374264115 | ALDOB | c.1011G>C (p.Gln337His) c.*23G>C (n.*23G>C) | |
| 9 | g.101421893C>T | CA5161400 | ALDOB | c.1011G>A (p.Gln337=) c.*23G>A (n.*23G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421894T>A | CA374264116 | ALDOB | c.1010A>T (p.Gln337Leu) c.*22A>T (n.*22A>T) | |
| 9 | g.101421894T>C | CA374264118 | ALDOB | c.1010A>G (p.Gln337Arg) c.*22A>G (n.*22A>G) | |
| 9 | g.101421894T>G | CA374264117 | ALDOB | c.1010A>C (p.Gln337Pro) c.*22A>C (n.*22A>C) | |
| 9 | g.101421895G>A | CA374264119 | ALDOB | c.1009C>T (p.Gln337Ter) c.*21C>T (n.*21C>T) | |
| 9 | g.101421895G>C | CA374264120 | ALDOB | c.1009C>G (p.Gln337Glu) c.*21C>G (n.*21C>G) | |
| 9 | g.101421895G>T | CA374264121 | ALDOB | c.1009C>A (p.Gln337Lys) c.*21C>A (n.*21C>A) | |
| 9 | g.101421895_101421897delinsGGC | CA1868275744 | ALDOB | c.1007_1009delinsGCC (p.Cys336=) c.*19_*21delinsGCC (n.*19_*21delinsGCC) | |
| 9 | g.101421896G>A | CA466461846 | ALDOB | c.1008C>T (p.Cys336=) c.*20C>T (n.*20C>T) | ClinVar |
| 9 | g.101421896G>C | CA374264122 | ALDOB | c.1008C>G (p.Cys336Trp) c.*20C>G (n.*20C>G) | |
| 9 | g.101421896G>T | CA374264123 | ALDOB | c.1008C>A (p.Cys336Ter) c.*20C>A (n.*20C>A) | |
| 9 | g.101421896_101421897delinsA | CA1139661093 | ALDOB | c.1007_1008delinsT (p.Cys336PhefsTer?) c.*19_*20delinsT (n.*19_*20delinsT) | ClinVar dbSNP |
| 9 | g.101421897C>A | CA374264124 | ALDOB | c.1007G>T (p.Cys336Phe) c.*19G>T (n.*19G>T) | |
| 9 | g.101421897C>G | CA374264125 | ALDOB | c.1007G>C (p.Cys336Ser) c.*19G>C (n.*19G>C) | |
| 9 | g.101421897C>T | CA374264126 | ALDOB | c.1007G>A (p.Cys336Tyr) c.*19G>A (n.*19G>A) | |
| 9 | g.101421898A>C | CA374264127 | ALDOB | c.1006T>G (p.Cys336Gly) c.*18T>G (n.*18T>G) | |
| 9 | g.101421898A>G | CA374264128 | ALDOB | c.1006T>C (p.Cys336Arg) c.*18T>C (n.*18T>C) | |
| 9 | g.101421898A>T | CA374264129 | ALDOB | c.1006T>A (p.Cys336Ser) c.*18T>A (n.*18T>A) | |
| 9 | g.101421898_101421903del | CA2691006430 | ALDOB | c.1001_1006del (p.Ala334_Cys336delinsGly) c.*13_*18del (n.*13_*18del) | gnomAD v4 |
| 9 | g.101421898_101421905delinsCA | CA2499219511 | ALDOB | c.1000-1_1006delinsTG c.*12-1_*18delinsTG | ClinVar dbSNP |
| 9 | g.101421899G>A | CA5161401 | ALDOB | c.1005C>T (p.Asn335=) c.*17C>T (n.*17C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421899G>C | CA339812 | ALDOB | c.1005C>G (p.Asn335Lys) c.*17C>G (n.*17C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421899G= | CA1868275754 | ALDOB | c.1005C= (p.Asn335=) c.*17C= (n.*17C=) | |
| 9 | g.101421899G>T | CA374264130 | ALDOB | c.1005C>A (p.Asn335Lys) c.*17C>A (n.*17C>A) | |
| 9 | g.101421900T>A | CA374264133 | ALDOB | c.1004A>T (p.Asn335Ile) c.*16A>T (n.*16A>T) | |
| 9 | g.101421900T>C | CA374264131 | ALDOB | c.1004A>G (p.Asn335Ser) c.*16A>G (n.*16A>G) | |
| 9 | g.101421900T>G | CA374264132 | ALDOB | c.1004A>C (p.Asn335Thr) c.*16A>C (n.*16A>C) | |
| 9 | g.101421901T>A | CA374264134 | ALDOB | c.1003A>T (p.Asn335Tyr) c.*15A>T (n.*15A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101421901T>C | CA374264135 | ALDOB | c.1003A>G (p.Asn335Asp) c.*15A>G (n.*15A>G) | gnomAD v4 |
| 9 | g.101421901T>G | CA374264136 | ALDOB | c.1003A>C (p.Asn335His) c.*15A>C (n.*15A>C) | |
| 9 | g.101421901T= | CA1868275757 | ALDOB | c.1003A= (p.Asn335=) c.*15A= (n.*15A=) | |
| 9 | g.101421902A>C | CA466461847 | ALDOB | c.1002T>G (p.Ala334=) c.*14T>G (n.*14T>G) | |
| 9 | g.101421902A>G | CA466461849 | ALDOB | c.1002T>C (p.Ala334=) c.*14T>C (n.*14T>C) | gnomAD v4 |
| 9 | g.101421902A>T | CA466461848 | ALDOB | c.1002T>A (p.Ala334=) c.*14T>A (n.*14T>A) | |
| 9 | g.101421903G>A | CA374264139 | ALDOB | c.1001C>T (p.Ala334Val) c.*13C>T (n.*13C>T) | gnomAD v4 |
| 9 | g.101421903G>C | CA374264138 | ALDOB | c.1001C>G (p.Ala334Gly) c.*13C>G (n.*13C>G) | |
| 9 | g.101421903G>T | CA374264137 | ALDOB | c.1001C>A (p.Ala334Asp) c.*13C>A (n.*13C>A) | |
| 9 | g.101421904C>A | CA374264140 | ALDOB | c.1000G>T (p.Ala334Ser) c.*12G>T (n.*12G>T) | |
| 9 | g.101421904C>G | CA374264141 | ALDOB | c.1000G>C (p.Ala334Pro) c.*12G>C (n.*12G>C) | |
| 9 | g.101421904C>T | CA374264142 | ALDOB | c.1000G>A (p.Ala334Thr) c.*12G>A (n.*12G>A) | |
| 9 | g.101421905C>A | CA374264143 | ALDOB | c.1000-1G>T (n.1000-1G>T) c.*12-1G>T (n.*12-1G>T) | dbSNP gnomAD v4 |
| 9 | g.101421905C= | CA1868275761 | ALDOB | c.1000-1G= (n.1000-1G=) c.*12-1G= (n.*12-1G=) | |
| 9 | g.101421905C>G | CA374264144 | ALDOB | c.1000-1G>C (n.1000-1G>C) c.*12-1G>C (n.*12-1G>C) | |
| 9 | g.101421905C>T | CA374264145 | ALDOB | c.1000-1G>A (n.1000-1G>A) c.*12-1G>A (n.*12-1G>A) | |
| 9 | g.101421905_101421906insATGGCCCGCTTCA | CA918520752 | ALDOB | c.1000-2_1000-1insTGAAGCGGGCCAT (n.1000-2_1000-1insTGAAGCGGGCCAT) c.*12-2_*12-1insTGAAGCGGGCCAT (n.*12-2_*12-1insTGAAGCGGGCCAT) | dbSNP |
| 9 | g.101421906T>A | CA196955843 | ALDOB | c.1000-2A>T (n.1000-2A>T) c.*12-2A>T (n.*12-2A>T) | dbSNP |
| 9 | g.101421906T>C | CA374264147 | ALDOB | c.1000-2A>G (n.1000-2A>G) c.*12-2A>G (n.*12-2A>G) | |
| 9 | g.101421906T>G | CA374264146 | ALDOB | c.1000-2A>C (n.1000-2A>C) c.*12-2A>C (n.*12-2A>C) | |
| 9 | g.101421906T= | CA1868275766 | ALDOB | c.1000-2A= (n.1000-2A=) c.*12-2A= (n.*12-2A=) | |
| 9 | g.101421907A= | CA1868275770 | ALDOB | c.1000-3T= (n.1000-3T=) c.*12-3T= (n.*12-3T=) | |
| 9 | g.101421907A>G | CA5161402 | ALDOB | c.1000-3T>C (n.1000-3T>C) c.*12-3T>C (n.*12-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101421907_101421908insAAAGCCTCCTGGGTTGCCTCCTTGTTT | CA918520753 | ALDOB | c.1000-4_1000-3insAAACAAGGAGGCAACCCAGGAGGCTTT (n.1000-4_1000-3insAAACAAGGAGGCAACCCAGGAGGCTTT) c.*12-4_*12-3insAAACAAGGAGGCAACCCAGGAGGCTTT (n.*12-4_*12-3insAAACAAGGAGGCAACCCAGGAGGCTTT) | dbSNP |
| 9 | g.101421908G>A | CA466461850 | ALDOB | c.1000-4C>T (n.1000-4C>T) c.*12-4C>T (n.*12-4C>T) | dbSNP COSMIC |
| 9 | g.101421908G>C | CA466461851 | ALDOB | c.1000-4C>G (n.1000-4C>G) c.*12-4C>G (n.*12-4C>G) | COSMIC |
| 9 | g.101421908G= | CA1868275774 | ALDOB | c.1000-4C= (n.1000-4C=) c.*12-4C= (n.*12-4C=) | |
| 9 | g.101421909A= | CA1868275777 | ALDOB | c.1000-5T= (n.1000-5T=) c.*12-5T= (n.*12-5T=) | |
| 9 | g.101421909A>C | CA1868275779 | ALDOB | c.1000-5T>G (n.1000-5T>G) c.*12-5T>G (n.*12-5T>G) | dbSNP |
| 9 | g.101421910A>G | CA2739264882 | ALDOB | c.1000-6T>C (n.1000-6T>C) c.*12-6T>C (n.*12-6T>C) | ClinVar |
| 9 | g.101421911G>A | CA2691006441 | ALDOB | c.1000-7C>T (n.1000-7C>T) c.*12-7C>T (n.*12-7C>T) | gnomAD v4 |
| 9 | g.101421911G= | CA1868275783 | ALDOB | c.1000-7C= (n.1000-7C=) c.*12-7C= (n.*12-7C=) | |
| 9 | g.101421911G>T | CA857728869 | ALDOB | c.1000-7C>A (n.1000-7C>A) c.*12-7C>A (n.*12-7C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101421912A= | CA1868275785 | ALDOB | c.1000-8T= (n.1000-8T=) c.*12-8T= (n.*12-8T=) | |
| 9 | g.101421912A>G | CA466461852 | ALDOB | c.1000-8T>C (n.1000-8T>C) c.*12-8T>C (n.*12-8T>C) | dbSNP |
| 9 | g.101421912A>T | CA196955845 | ALDOB | c.1000-8T>A (n.1000-8T>A) c.*12-8T>A (n.*12-8T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421913C= | CA1868275789 | ALDOB | c.1000-9G= (n.1000-9G=) c.*12-9G= (n.*12-9G=) | |
| 9 | g.101421913C>T | CA589815523 | ALDOB | c.1000-9G>A (n.1000-9G>A) c.*12-9G>A (n.*12-9G>A) | dbSNP gnomAD v2 |
| 9 | g.101421916A= | CA1868275791 | ALDOB | c.1000-12T= (n.1000-12T=) c.*12-12T= (n.*12-12T=) | |
| 9 | g.101421916A>G | CA5161403 | ALDOB | c.1000-12T>C (n.1000-12T>C) c.*12-12T>C (n.*12-12T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101421917T>C | CA5161404 | ALDOB | c.1000-13A>G (n.1000-13A>G) c.*12-13A>G (n.*12-13A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421917T= | CA1868275793 | ALDOB | c.1000-13A= (n.1000-13A=) c.*12-13A= (n.*12-13A=) | |
| 9 | g.101421918A= | CA1868275796 | ALDOB | c.1000-14T= (n.1000-14T=) c.*12-14T= (n.*12-14T=) | |
| 9 | g.101421918A>C | CA589815525 | ALDOB | c.1000-14T>G (n.1000-14T>G) c.*12-14T>G (n.*12-14T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101421918A>G | CA589815524 | ALDOB | c.1000-14T>C (n.1000-14T>C) c.*12-14T>C (n.*12-14T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101421919T>G | CA5161405 | ALDOB | c.1000-15A>C (n.1000-15A>C) c.*12-15A>C (n.*12-15A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101421919T= | CA1868275799 | ALDOB | c.1000-15A= (n.1000-15A=) c.*12-15A= (n.*12-15A=) | |
| 9 | g.101421920G>T | CA2691006452 | ALDOB | c.1000-16C>A (n.1000-16C>A) c.*12-16C>A (n.*12-16C>A) | gnomAD v4 |
| 9 | g.101421921A= | CA1868275801 | ALDOB | c.1000-17T= (n.1000-17T=) c.*12-17T= (n.*12-17T=) | |
| 9 | g.101421921A>G | CA5161406 | ALDOB | c.1000-17T>C (n.1000-17T>C) c.*12-17T>C (n.*12-17T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421924G>C | CA2740095546 | ALDOB | c.1000-20C>G (n.1000-20C>G) c.*12-20C>G (n.*12-20C>G) | ClinVar |
| 9 | g.101421925A>G | CA653204432 | ALDOB | c.1000-21T>C (n.1000-21T>C) c.*12-21T>C (n.*12-21T>C) | COSMIC COSMIC |