| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54844137_54844139delinsCAT | CA2138218219 | GCH1 | c.631_633delinsATG (p.Met211=) n.779_781delinsATG n.293-1085_293-1083delinsATG c.627-1085_627-1083delinsATG (n.627-1085_627-1083delinsATG) c.627-270_627-268delinsATG (n.627-270_627-268delinsATG) c.337_339delinsATG (p.Met113=) | |
| 14 | g.54844138A= | CA2138218220 | GCH1 | c.632T= (p.Met211=) n.780T= n.293-1084T= c.627-1084T= (n.627-1084T=) c.627-269T= (n.627-269T=) c.338T= (p.Met113=) | |
| 14 | g.54844138A>C | CA389787234 | GCH1 | c.632T>G (p.Met211Arg) n.780T>G n.293-1084T>G c.627-1084T>G (n.627-1084T>G) c.627-269T>G (n.627-269T>G) c.338T>G (p.Met113Arg) | |
| 14 | g.54844138A>G | CA389787235 | GCH1 | c.632T>C (p.Met211Thr) n.780T>C n.293-1084T>C c.627-1084T>C (n.627-1084T>C) c.627-269T>C (n.627-269T>C) c.338T>C (p.Met113Thr) | ClinVar dbSNP gnomAD v4 |
| 14 | g.54844138A>T | CA389787236 | GCH1 | c.632T>A (p.Met211Lys) n.780T>A n.293-1084T>A c.627-1084T>A (n.627-1084T>A) c.627-269T>A (n.627-269T>A) c.338T>A (p.Met113Lys) | |
| 14 | g.54844138_54844139del | CA10588575 | GCH1 | c.631_632del (p.Met211ValfsTer?) n.779_780del n.293-1085_293-1084del c.627-1085_627-1084del (n.627-1085_627-1084del) c.627-270_627-269del (n.627-270_627-269del) c.337_338del (p.Met113ValfsTer?) | ClinVar dbSNP gnomAD v4 |
| 14 | g.54844139T>A | CA389787237 | GCH1 | c.631A>T (p.Met211Leu) n.779A>T n.293-1085A>T c.627-1085A>T (n.627-1085A>T) c.627-270A>T (n.627-270A>T) c.337A>T (p.Met113Leu) | dbSNP |
| 14 | g.54844139T>C | CA389787238 | GCH1 | c.631A>G (p.Met211Val) n.779A>G n.293-1085A>G c.627-1085A>G (n.627-1085A>G) c.627-270A>G (n.627-270A>G) c.337A>G (p.Met113Val) | |
| 14 | g.54844139T>G | CA389787239 | GCH1 | c.631A>C (p.Met211Leu) n.779A>C n.293-1085A>C c.627-1085A>C (n.627-1085A>C) c.627-270A>C (n.627-270A>C) c.337A>C (p.Met113Leu) | gnomAD v4 |
| 14 | g.54844142_54844143del | CA2580618004 | GCH1 | c.630_631del (p.Met211ValfsTer?) n.778_779del n.293-1086_293-1085del c.627-1086_627-1085del (n.627-1086_627-1085del) c.627-271_627-270del (n.627-271_627-270del) c.336_337del (p.Met113ValfsTer?) | |
| 14 | g.54844140G>A | CA486482232 | GCH1 | c.630C>T (p.His210=) n.778C>T n.293-1086C>T c.627-1086C>T (n.627-1086C>T) c.627-271C>T (n.627-271C>T) c.336C>T (p.His112=) | gnomAD v4 |
| 14 | g.54844140G>C | CA389787240 | GCH1 | c.630C>G (p.His210Gln) n.778C>G n.293-1086C>G c.627-1086C>G (n.627-1086C>G) c.627-271C>G (n.627-271C>G) c.336C>G (p.His112Gln) | |
| 14 | g.54844140G= | CA2138218221 | GCH1 | c.630C= (p.His210=) n.778C= n.293-1086C= c.627-1086C= (n.627-1086C=) c.627-271C= (n.627-271C=) c.336C= (p.His112=) | |
| 14 | g.54844140G>T | CA389787241 | GCH1 | c.630C>A (p.His210Gln) n.778C>A n.293-1086C>A c.627-1086C>A (n.627-1086C>A) c.627-271C>A (n.627-271C>A) c.336C>A (p.His112Gln) | dbSNP |
| 14 | g.54844141T>A | CA389787242 | GCH1 | c.629A>T (p.His210Leu) n.777A>T n.293-1087A>T c.627-1087A>T (n.627-1087A>T) c.627-272A>T (n.627-272A>T) c.335A>T (p.His112Leu) | |
| 14 | g.54844141T>C | CA389787244 | GCH1 | c.629A>G (p.His210Arg) n.777A>G n.293-1087A>G c.627-1087A>G (n.627-1087A>G) c.627-272A>G (n.627-272A>G) c.335A>G (p.His112Arg) | |
| 14 | g.54844141T>G | CA389787243 | GCH1 | c.629A>C (p.His210Pro) n.777A>C n.293-1087A>C c.627-1087A>C (n.627-1087A>C) c.627-272A>C (n.627-272A>C) c.335A>C (p.His112Pro) | |
| 14 | g.54844142del | CA2695219301 | GCH1 | c.628del (p.His210ThrfsTer5) n.776del n.293-1088del c.627-1088del (n.627-1088del) c.627-273del (n.627-273del) c.334del (p.His112ThrfsTer5) | |
| 14 | g.54844142G>A | CA389787245 | GCH1 | c.628C>T (p.His210Tyr) n.776C>T n.293-1088C>T c.627-1088C>T (n.627-1088C>T) c.627-273C>T (n.627-273C>T) c.334C>T (p.His112Tyr) | |
| 14 | g.54844142G>C | CA389787247 | GCH1 | c.628C>G (p.His210Asp) n.776C>G n.293-1088C>G c.627-1088C>G (n.627-1088C>G) c.627-273C>G (n.627-273C>G) c.334C>G (p.His112Asp) | |
| 14 | g.54844142G>T | CA389787246 | GCH1 | c.628C>A (p.His210Asn) n.776C>A n.293-1088C>A c.627-1088C>A (n.627-1088C>A) c.627-273C>A (n.627-273C>A) c.334C>A (p.His112Asn) | |
| 14 | g.54844142_54844143insAACTTTA | CA2553543085 | GCH1 | c.627_628insTAAAGTT (p.His210Ter) n.775_776insTAAAGTT n.293-1089_293-1088insTAAAGTT c.627-1089_627-1088insTAAAGTT (n.627-1089_627-1088insTAAAGTT) c.627-274_627-273insTAAAGTT (n.627-274_627-273insTAAAGTT) c.333_334insTAAAGTT (p.His112Ter) | |
| 14 | g.54844143T>A | CA486482233 | GCH1 | c.627A>T (p.Thr209=) n.775A>T n.293-1089A>T c.627-1089A>T (n.627-1089A>T) c.627-274A>T (n.627-274A>T) c.333A>T (p.Thr111=) | |
| 14 | g.54844143T>C | CA486482235 | GCH1 | c.627A>G (p.Thr209=) n.775A>G n.293-1089A>G c.627-1089A>G (n.627-1089A>G) c.627-274A>G (n.627-274A>G) c.333A>G (p.Thr111=) | |
| 14 | g.54844143T>G | CA486482234 | GCH1 | c.627A>C (p.Thr209=) n.775A>C n.293-1089A>C c.627-1089A>C (n.627-1089A>C) c.627-274A>C (n.627-274A>C) c.333A>C (p.Thr111=) | |
| 14 | g.54844143_54844144insGTTGCTTCAACCA | CA2624944704 | GCH1 | c.627-1_627insTGGTTGAAGCAAC (n.627-1_627insTGGTTGAAGCAAC) n.775-1_775insTGGTTGAAGCAAC n.293-1090_293-1089insTGGTTGAAGCAAC c.627-1090_627-1089insTGGTTGAAGCAAC (n.627-1090_627-1089insTGGTTGAAGCAAC) c.627-275_627-274insTGGTTGAAGCAAC (n.627-275_627-274insTGGTTGAAGCAAC) c.333-1_333insTGGTTGAAGCAAC (n.333-1_333insTGGTTGAAGCAAC) | gnomAD v4 |
| 14 | g.54844143_54844144insGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTC | CA2624944703 | GCH1 | c.627-1_627insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC (n.627-1_627insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC) n.775-1_775insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC n.293-1090_293-1089insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC c.627-1090_627-1089insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC (n.627-1090_627-1089insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC) c.627-275_627-274insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC (n.627-275_627-274insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC) c.333-1_333insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC (n.333-1_333insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC) | gnomAD v4 |
| 14 | g.54844143_54844144insGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTCCGTGATTG | CA614283917 | GCH1 | c.627-1_627insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC (n.627-1_627insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC) n.775-1_775insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC n.293-1090_293-1089insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC c.627-1090_627-1089insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC (n.627-1090_627-1089insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC) c.627-275_627-274insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC (n.627-275_627-274insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC) c.333-1_333insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC (n.333-1_333insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC) | gnomAD v2 |
| 14 | g.54844144C>A | CA389787248 | GCH1 | c.627-1G>T (n.627-1G>T) n.775-1G>T n.293-1090G>T c.627-1090G>T (n.627-1090G>T) c.627-275G>T (n.627-275G>T) c.333-1G>T (n.333-1G>T) | |
| 14 | g.54844144C>G | CA389787250 | GCH1 | c.627-1G>C (n.627-1G>C) n.775-1G>C n.293-1090G>C c.627-1090G>C (n.627-1090G>C) c.627-275G>C (n.627-275G>C) c.333-1G>C (n.333-1G>C) | |
| 14 | g.54844144C>T | CA389787249 | GCH1 | c.627-1G>A (n.627-1G>A) n.775-1G>A n.293-1090G>A c.627-1090G>A (n.627-1090G>A) c.627-275G>A (n.627-275G>A) c.333-1G>A (n.333-1G>A) | |
| 14 | g.54844145T>A | CA389787251 | GCH1 | c.627-2A>T (n.627-2A>T) n.775-2A>T n.293-1091A>T c.627-1091A>T (n.627-1091A>T) c.627-276A>T (n.627-276A>T) c.333-2A>T (n.333-2A>T) | |
| 14 | g.54844145T>C | CA389787252 | GCH1 | c.627-2A>G (n.627-2A>G) n.775-2A>G n.293-1091A>G c.627-1091A>G (n.627-1091A>G) c.627-276A>G (n.627-276A>G) c.333-2A>G (n.333-2A>G) | |
| 14 | g.54844145T>G | CA389787253 | GCH1 | c.627-2A>C (n.627-2A>C) n.775-2A>C n.293-1091A>C c.627-1091A>C (n.627-1091A>C) c.627-276A>C (n.627-276A>C) c.333-2A>C (n.333-2A>C) | |
| 14 | g.54844145dup | CA2695219302 | GCH1 | c.627-2dup (n.627-2dup) n.775-2dup n.293-1091dup c.627-1091dup (n.627-1091dup) c.627-276dup (n.627-276dup) c.333-2dup (n.333-2dup) | |
| 14 | g.54844146A= | CA2138218222 | GCH1 | c.627-3T= (n.627-3T=) n.775-3T= n.293-1092T= c.627-1092T= (n.627-1092T=) c.627-277T= (n.627-277T=) c.333-3T= (n.333-3T=) | |
| 14 | g.54844146A>G | CA7193512 | GCH1 | c.627-3T>C (n.627-3T>C) n.775-3T>C n.293-1092T>C c.627-1092T>C (n.627-1092T>C) c.627-277T>C (n.627-277T>C) c.333-3T>C (n.333-3T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.54844147C= | CA2138218223 | GCH1 | c.627-4G= (n.627-4G=) n.775-4G= n.293-1093G= c.627-1093G= (n.627-1093G=) c.627-278G= (n.627-278G=) c.333-4G= (n.333-4G=) | |
| 14 | g.54844147C>T | CA706904482 | GCH1 | c.627-4G>A (n.627-4G>A) n.775-4G>A n.293-1093G>A c.627-1093G>A (n.627-1093G>A) c.627-278G>A (n.627-278G>A) c.333-4G>A (n.333-4G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.54844147_54844148insCCCGACTCCAGCAGGCCGCAAGGCTTC | CA2624944705 | GCH1 | c.627-4_627-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG (n.627-4_627-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG) n.775-4_775-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG n.293-1093_293-1092insAAGCCTTGCGGCCTGCTGGAGTCGGGG c.627-1093_627-1092insAAGCCTTGCGGCCTGCTGGAGTCGGGG (n.627-1093_627-1092insAAGCCTTGCGGCCTGCTGGAGTCGGGG) c.627-278_627-277insAAGCCTTGCGGCCTGCTGGAGTCGGGG (n.627-278_627-277insAAGCCTTGCGGCCTGCTGGAGTCGGGG) c.333-4_333-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG (n.333-4_333-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG) | gnomAD v4 |
| 14 | g.54844147_54844148delinsCA | CA2138218224 | GCH1 | c.627-5_627-4delinsTG (n.627-5_627-4delinsTG) n.775-5_775-4delinsTG n.293-1094_293-1093delinsTG c.627-1094_627-1093delinsTG (n.627-1094_627-1093delinsTG) c.627-279_627-278delinsTG (n.627-279_627-278delinsTG) c.333-5_333-4delinsTG (n.333-5_333-4delinsTG) | |
| 14 | g.54844151del | CA963329185 | GCH1 | c.627-5del (n.627-5del) n.775-5del n.293-1094del c.627-1094del (n.627-1094del) c.627-279del (n.627-279del) c.333-5del (n.333-5del) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.54844149A>C | CA2695219303 | GCH1 | c.627-6T>G (n.627-6T>G) n.775-6T>G n.293-1095T>G c.627-1095T>G (n.627-1095T>G) c.627-280T>G (n.627-280T>G) c.333-6T>G (n.333-6T>G) | |
| 14 | g.54844152_54844154del | CA2580088250 | GCH1 | c.627-9_627-7del (n.627-9_627-7del) n.775-9_775-7del n.293-1098_293-1096del c.627-1098_627-1096del (n.627-1098_627-1096del) c.627-283_627-281del (n.627-283_627-281del) c.333-9_333-7del (n.333-9_333-7del) | ClinVar |
| 14 | g.54844154del | CA2740097082 | GCH1 | c.627-10del (n.627-10del) n.775-10del n.293-1099del c.627-1099del (n.627-1099del) c.627-284del (n.627-284del) c.333-10del (n.333-10del) | |
| 14 | g.54844155_54844159del | CA2740097083 | GCH1 | c.627-14_627-10del (n.627-14_627-10del) n.775-14_775-10del n.293-1103_293-1099del c.627-1103_627-1099del (n.627-1103_627-1099del) c.627-288_627-284del (n.627-288_627-284del) c.333-14_333-10del (n.333-14_333-10del) | |
| 14 | g.54844155G>A | CA10640318 | GCH1 | c.627-12C>T (n.627-12C>T) n.775-12C>T n.293-1101C>T c.627-1101C>T (n.627-1101C>T) c.627-286C>T (n.627-286C>T) c.333-12C>T (n.333-12C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.54844155G= | CA2138218225 | GCH1 | c.627-12C= (n.627-12C=) n.775-12C= n.293-1101C= c.627-1101C= (n.627-1101C=) c.627-286C= (n.627-286C=) c.333-12C= (n.333-12C=) | |
| 14 | g.54844156G>T | CA2624944706 | GCH1 | c.627-13C>A (n.627-13C>A) n.775-13C>A n.293-1102C>A c.627-1102C>A (n.627-1102C>A) c.627-287C>A (n.627-287C>A) c.333-13C>A (n.333-13C>A) | gnomAD v4 |
| 14 | g.54844157C= | CA2138218226 | GCH1 | c.627-14G= (n.627-14G=) n.775-14G= n.293-1103G= c.627-1103G= (n.627-1103G=) c.627-288G= (n.627-288G=) c.333-14G= (n.333-14G=) |