UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843648_102846953del | CA251545 | PAH | c.914_1199+1del c.899_1184+1del n.673_958+1del n.576_861+1del c.74-2519_303+1del n.429_714+1del c.913-2519_1142+1del | ClinVar |
| 12 | g.102844313_102844326del | CA2620508268 | PAH | c.1065+10_1065+23del (n.1065+10_1065+23del) c.1050+10_1050+23del (n.1050+10_1050+23del) n.824+10_824+23del n.727+10_727+23del c.169+10_169+23del n.580+10_580+23del c.1008+10_1008+23del (n.1008+10_1008+23del) | gnomAD v4 |
| 12 | g.102844319T>G | CA2059447933 | PAH | c.1065+17A>C (n.1065+17A>C) c.1050+17A>C (n.1050+17A>C) n.824+17A>C n.727+17A>C c.169+17A>C n.580+17A>C c.1008+17A>C (n.1008+17A>C) | dbSNP |
| 12 | g.102844319T= | CA2059447935 | PAH | c.1065+17A= (n.1065+17A=) c.1050+17A= (n.1050+17A=) n.824+17A= n.727+17A= c.169+17A= n.580+17A= c.1008+17A= (n.1008+17A=) | |
| 12 | g.102844320C= | CA2059447941 | PAH | c.1065+16G= (n.1065+16G=) c.1050+16G= (n.1050+16G=) n.824+16G= n.727+16G= c.169+16G= n.580+16G= c.1008+16G= (n.1008+16G=) | |
| 12 | g.102844320C>T | CA2059447943 | PAH | c.1065+16G>A (n.1065+16G>A) c.1050+16G>A (n.1050+16G>A) n.824+16G>A n.727+16G>A c.169+16G>A n.580+16G>A c.1008+16G>A (n.1008+16G>A) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844321C>T | CA2575266754 | PAH | c.1065+15G>A (n.1065+15G>A) c.1050+15G>A (n.1050+15G>A) n.824+15G>A n.727+15G>A c.169+15G>A n.580+15G>A c.1008+15G>A (n.1008+15G>A) | ClinVar gnomAD v4 |
| 12 | g.102844324_102844325del | CA2620508299 | PAH | c.1065+13_1065+14del (n.1065+13_1065+14del) c.1050+13_1050+14del (n.1050+13_1050+14del) n.824+13_824+14del n.727+13_727+14del c.169+13_169+14del n.580+13_580+14del c.1008+13_1008+14del (n.1008+13_1008+14del) | gnomAD v4 |
| 12 | g.102844323G>A | CA6748761 | PAH | c.1065+13C>T (n.1065+13C>T) c.1050+13C>T (n.1050+13C>T) n.824+13C>T n.727+13C>T c.169+13C>T n.580+13C>T c.1008+13C>T (n.1008+13C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102844323G>C | CA2620508324 | PAH | c.1065+13C>G (n.1065+13C>G) c.1050+13C>G (n.1050+13C>G) n.824+13C>G n.727+13C>G c.169+13C>G n.580+13C>G c.1008+13C>G (n.1008+13C>G) | gnomAD v4 |
| 12 | g.102844323G= | CA2059447946 | PAH | c.1065+13C= (n.1065+13C=) c.1050+13C= (n.1050+13C=) n.824+13C= n.727+13C= c.169+13C= n.580+13C= c.1008+13C= (n.1008+13C=) | |
| 12 | g.102844323G>T | CA2620508328 | PAH | c.1065+13C>A (n.1065+13C>A) c.1050+13C>A (n.1050+13C>A) n.824+13C>A n.727+13C>A c.169+13C>A n.580+13C>A c.1008+13C>A (n.1008+13C>A) | gnomAD v4 |
| 12 | g.102844324T>C | CA682823109 | PAH | c.1065+12A>G (n.1065+12A>G) c.1050+12A>G (n.1050+12A>G) n.824+12A>G n.727+12A>G c.169+12A>G n.580+12A>G c.1008+12A>G (n.1008+12A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102844324T= | CA2059447949 | PAH | c.1065+12A= (n.1065+12A=) c.1050+12A= (n.1050+12A=) n.824+12A= n.727+12A= c.169+12A= n.580+12A= c.1008+12A= (n.1008+12A=) | |
| 12 | g.102844325G>T | CA2620508333 | PAH | c.1065+11C>A (n.1065+11C>A) c.1050+11C>A (n.1050+11C>A) n.824+11C>A n.727+11C>A c.169+11C>A n.580+11C>A c.1008+11C>A (n.1008+11C>A) | dbSNP gnomAD v4 |
| 12 | g.102844327del | CA2620508334 | PAH | c.1065+10del (n.1065+10del) c.1050+10del (n.1050+10del) n.824+10del n.727+10del c.169+10del n.580+10del c.1008+10del (n.1008+10del) | gnomAD v4 |
| 12 | g.102844327A= | CA2059447954 | PAH | c.1065+9T= (n.1065+9T=) c.1050+9T= (n.1050+9T=) n.824+9T= n.727+9T= c.169+9T= n.580+9T= c.1008+9T= (n.1008+9T=) | |
| 12 | g.102844327A>C | CA1139662838 | PAH | c.1065+9T>G (n.1065+9T>G) c.1050+9T>G (n.1050+9T>G) n.824+9T>G n.727+9T>G c.169+9T>G n.580+9T>G c.1008+9T>G (n.1008+9T>G) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844327A>G | CA2620508338 | PAH | c.1065+9T>C (n.1065+9T>C) c.1050+9T>C (n.1050+9T>C) n.824+9T>C n.727+9T>C c.169+9T>C n.580+9T>C c.1008+9T>C (n.1008+9T>C) | gnomAD v4 |
| 12 | g.102844328G>A | CA2499221393 | PAH | c.1065+8C>T (n.1065+8C>T) c.1050+8C>T (n.1050+8C>T) n.824+8C>T n.727+8C>T c.169+8C>T n.580+8C>T c.1008+8C>T (n.1008+8C>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844328G>T | CA2620508349 | PAH | c.1065+8C>A (n.1065+8C>A) c.1050+8C>A (n.1050+8C>A) n.824+8C>A n.727+8C>A c.169+8C>A n.580+8C>A c.1008+8C>A (n.1008+8C>A) | ClinVar gnomAD v4 |
| 12 | g.102844329G>A | CA6748762 | PAH | c.1065+7C>T (n.1065+7C>T) c.1050+7C>T (n.1050+7C>T) n.824+7C>T n.727+7C>T c.169+7C>T n.580+7C>T c.1008+7C>T (n.1008+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102844329G= | CA2059447966 | PAH | c.1065+7C= (n.1065+7C=) c.1050+7C= (n.1050+7C=) n.824+7C= n.727+7C= c.169+7C= n.580+7C= c.1008+7C= (n.1008+7C=) | |
| 12 | g.102844329G>T | CA229319 | PAH | c.1065+7C>A (n.1065+7C>A) c.1050+7C>A (n.1050+7C>A) n.824+7C>A n.727+7C>A c.169+7C>A n.580+7C>A c.1008+7C>A (n.1008+7C>A) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844333T>C | CA212751 | PAH | c.1065+3A>G (n.1065+3A>G) c.1050+3A>G (n.1050+3A>G) n.824+3A>G n.727+3A>G c.169+3A>G n.580+3A>G c.1008+3A>G (n.1008+3A>G) | ClinVar dbSNP |
| 12 | g.102844333T>G | CA229318 | PAH | c.1065+3A>C (n.1065+3A>C) c.1050+3A>C (n.1050+3A>C) n.824+3A>C n.727+3A>C c.169+3A>C n.580+3A>C c.1008+3A>C (n.1008+3A>C) | ClinVar dbSNP |
| 12 | g.102844333T= | CA2059447972 | PAH | c.1065+3A= (n.1065+3A=) c.1050+3A= (n.1050+3A=) n.824+3A= n.727+3A= c.169+3A= n.580+3A= c.1008+3A= (n.1008+3A=) | |
| 12 | g.102844334A>C | CA386493371 | PAH | c.1065+2T>G (n.1065+2T>G) c.1050+2T>G (n.1050+2T>G) n.824+2T>G n.727+2T>G c.169+2T>G n.580+2T>G c.1008+2T>G (n.1008+2T>G) | |
| 12 | g.102844334A>G | CA386493370 | PAH | c.1065+2T>C (n.1065+2T>C) c.1050+2T>C (n.1050+2T>C) n.824+2T>C n.727+2T>C c.169+2T>C n.580+2T>C c.1008+2T>C (n.1008+2T>C) | gnomAD v4 |
| 12 | g.102844334A>T | CA386493369 | PAH | c.1065+2T>A (n.1065+2T>A) c.1050+2T>A (n.1050+2T>A) n.824+2T>A n.727+2T>A c.169+2T>A n.580+2T>A c.1008+2T>A (n.1008+2T>A) | |
| 12 | g.102844335C>A | CA312806 | PAH | c.1065+1G>T (n.1065+1G>T) c.1050+1G>T (n.1050+1G>T) n.824+1G>T n.727+1G>T c.169+1G>T n.580+1G>T c.1008+1G>T (n.1008+1G>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844335C= | CA2059447984 | PAH | c.1065+1G= (n.1065+1G=) c.1050+1G= (n.1050+1G=) n.824+1G= n.727+1G= c.169+1G= n.580+1G= c.1008+1G= (n.1008+1G=) | |
| 12 | g.102844335C>G | CA386493372 | PAH | c.1065+1G>C (n.1065+1G>C) c.1050+1G>C (n.1050+1G>C) n.824+1G>C n.727+1G>C c.169+1G>C n.580+1G>C c.1008+1G>C (n.1008+1G>C) | |
| 12 | g.102844335C>T | CA229315 | PAH | c.1065+1G>A (n.1065+1G>A) c.1050+1G>A (n.1050+1G>A) n.824+1G>A n.727+1G>A c.169+1G>A n.580+1G>A c.1008+1G>A (n.1008+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102844336C>A | CA386493373 | PAH | c.1065G>T (p.Gln355His) c.1050G>T (p.Gln350His) n.824G>T n.727G>T c.169G>T n.580G>T c.1008G>T (p.Gln336His) | |
| 12 | g.102844336C= | CA2059447992 | PAH | c.1065G= (p.Gln355=) c.1050G= (p.Gln350=) n.824G= n.727G= c.169G= n.580G= c.1008G= (p.Gln336=) | |
| 12 | g.102844336C>G | CA386493374 | PAH | c.1065G>C (p.Gln355His) c.1050G>C (p.Gln350His) n.824G>C n.727G>C c.169G>C n.580G>C c.1008G>C (p.Gln336His) | dbSNP |
| 12 | g.102844336C>T | CA481375725 | PAH | c.1065G>A (p.Gln355=) c.1050G>A (p.Gln350=) n.824G>A n.727G>A c.169G>A n.580G>A c.1008G>A (p.Gln336=) | |
| 12 | g.102844337T>A | CA386493375 | PAH | c.1064A>T (p.Gln355Leu) c.1049A>T (p.Gln350Leu) n.823A>T n.726A>T c.168A>T n.579A>T c.1007A>T (p.Gln336Leu) | |
| 12 | g.102844337T>C | CA386493376 | PAH | c.1064A>G (p.Gln355Arg) c.1049A>G (p.Gln350Arg) n.823A>G n.726A>G c.168A>G n.579A>G c.1007A>G (p.Gln336Arg) | |
| 12 | g.102844337T>G | CA386493377 | PAH | c.1064A>C (p.Gln355Pro) c.1049A>C (p.Gln350Pro) n.823A>C n.726A>C c.168A>C n.579A>C c.1007A>C (p.Gln336Pro) | |
| 12 | g.102844338G>A | CA229313 | PAH | c.1063C>T (p.Gln355Ter) c.1048C>T (p.Gln350Ter) n.822C>T n.725C>T c.167C>T n.578C>T c.1006C>T (p.Gln336Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844338G>C | CA386493378 | PAH | c.1063C>G (p.Gln355Glu) c.1048C>G (p.Gln350Glu) n.822C>G n.725C>G c.167C>G n.578C>G c.1006C>G (p.Gln336Glu) | |
| 12 | g.102844338G= | CA2059448001 | PAH | c.1063C= (p.Gln355=) c.1048C= (p.Gln350=) n.822C= n.725C= c.167C= n.578C= c.1006C= (p.Gln336=) | |
| 12 | g.102844338G>T | CA386493379 | PAH | c.1063C>A (p.Gln355Lys) c.1048C>A (p.Gln350Lys) n.822C>A n.725C>A c.167C>A n.578C>A c.1006C>A (p.Gln336Lys) | gnomAD v4 COSMIC |
| 12 | g.102844339T>A | CA386493380 | PAH | c.1062A>T (p.Leu354Phe) c.1047A>T (p.Leu349Phe) n.821A>T n.724A>T c.166A>T n.577A>T c.1005A>T (p.Leu335Phe) | |
| 12 | g.102844339T>C | CA481375727 | PAH | c.1062A>G (p.Leu354=) c.1047A>G (p.Leu349=) n.821A>G n.724A>G c.166A>G n.577A>G c.1005A>G (p.Leu335=) | ClinVar dbSNP |
| 12 | g.102844339T>G | CA386493381 | PAH | c.1062A>C (p.Leu354Phe) c.1047A>C (p.Leu349Phe) n.821A>C n.724A>C c.166A>C n.577A>C c.1005A>C (p.Leu335Phe) | |
| 12 | g.102844340A>C | CA386493384 | PAH | c.1061T>G (p.Leu354Ter) c.1046T>G (p.Leu349Ter) n.820T>G n.723T>G c.165T>G n.576T>G c.1004T>G (p.Leu335Ter) | |
| 12 | g.102844340A>G | CA386493382 | PAH | c.1061T>C (p.Leu354Ser) c.1046T>C (p.Leu349Ser) n.820T>C n.723T>C c.165T>C n.576T>C c.1004T>C (p.Leu335Ser) | |
| 12 | g.102844340A>T | CA386493383 | PAH | c.1061T>A (p.Leu354Ter) c.1046T>A (p.Leu349Ter) n.820T>A n.723T>A c.165T>A n.576T>A c.1004T>A (p.Leu335Ter) | |
| 12 | g.102844341dup | CA2695217227 | PAH | c.1061dup (p.Leu354PhefsTer?) c.1046dup (p.Leu349PhefsTer?) n.820dup n.723dup c.165dup n.576dup c.1004dup (p.Leu335PhefsTer?) | |
| 12 | g.102844341A>C | CA386493385 | PAH | c.1060T>G (p.Leu354Val) c.1045T>G (p.Leu349Val) n.819T>G n.722T>G c.164T>G n.575T>G c.1003T>G (p.Leu335Val) | |
| 12 | g.102844341A>G | CA481375730 | PAH | c.1060T>C (p.Leu354=) c.1045T>C (p.Leu349=) n.819T>C n.722T>C c.164T>C n.575T>C c.1003T>C (p.Leu335=) | |
| 12 | g.102844341A>T | CA386493386 | PAH | c.1060T>A (p.Leu354Ile) c.1045T>A (p.Leu349Ile) n.819T>A n.722T>A c.164T>A n.575T>A c.1003T>A (p.Leu335Ile) | |
| 12 | g.102844342T>A | CA386493387 | PAH | c.1059A>T (p.Glu353Asp) c.1044A>T (p.Glu348Asp) n.818A>T n.721A>T c.163A>T n.574A>T c.1002A>T (p.Glu334Asp) | |
| 12 | g.102844342T>C | CA481375731 | PAH | c.1059A>G (p.Glu353=) c.1044A>G (p.Glu348=) n.818A>G n.721A>G c.163A>G n.574A>G c.1002A>G (p.Glu334=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102844342T>G | CA386493388 | PAH | c.1059A>C (p.Glu353Asp) c.1044A>C (p.Glu348Asp) n.818A>C n.721A>C c.163A>C n.574A>C c.1002A>C (p.Glu334Asp) | |
| 12 | g.102844342T= | CA2059448009 | PAH | c.1059A= (p.Glu353=) c.1044A= (p.Glu348=) n.818A= n.721A= c.163A= n.574A= c.1002A= (p.Glu334=) | |
| 12 | g.102844343T>A | CA386493389 | PAH | c.1058A>T (p.Glu353Val) c.1043A>T (p.Glu348Val) n.817A>T n.720A>T c.162A>T n.573A>T c.1001A>T (p.Glu334Val) | |
| 12 | g.102844343T>C | CA386493390 | PAH | c.1058A>G (p.Glu353Gly) c.1043A>G (p.Glu348Gly) n.817A>G n.720A>G c.162A>G n.573A>G c.1001A>G (p.Glu334Gly) | |
| 12 | g.102844343T>G | CA386493391 | PAH | c.1058A>C (p.Glu353Ala) c.1043A>C (p.Glu348Ala) n.817A>C n.720A>C c.162A>C n.573A>C c.1001A>C (p.Glu334Ala) | |
| 12 | g.102844344del | CA16020923 | PAH | c.1057del (p.Glu353AsnfsTer?) c.1042del (p.Glu348AsnfsTer?) n.816del n.719del c.161del n.572del c.1000del (p.Glu334AsnfsTer?) | ClinVar dbSNP |
| 12 | g.102844344C>A | CA386493392 | PAH | c.1057G>T (p.Glu353Ter) c.1042G>T (p.Glu348Ter) n.816G>T n.719G>T c.161G>T n.572G>T c.1000G>T (p.Glu334Ter) | |
| 12 | g.102844344C>G | CA386493393 | PAH | c.1057G>C (p.Glu353Gln) c.1042G>C (p.Glu348Gln) n.816G>C n.719G>C c.161G>C n.572G>C c.1000G>C (p.Glu334Gln) | |
| 12 | g.102844344C>T | CA386493394 | PAH | c.1057G>A (p.Glu353Lys) c.1042G>A (p.Glu348Lys) n.816G>A n.719G>A c.161G>A n.572G>A c.1000G>A (p.Glu334Lys) | |
| 12 | g.102844344_102844345delinsCA | CA2059448017 | PAH | c.1056_1057delinsTG (p.Gly352=) c.1041_1042delinsTG (p.Gly347=) n.815_816delinsTG n.718_719delinsTG c.160_161delinsTG n.571_572delinsTG c.999_1000delinsTG (p.Gly333=) | |
| 12 | g.102844345del | CA229312 | PAH | c.1056del (p.Glu353AsnfsTer?) c.1041del (p.Glu348AsnfsTer?) n.815del n.718del c.160del n.571del c.999del (p.Glu334AsnfsTer?) | ClinVar dbSNP |
| 12 | g.102844345A>C | CA481375733 | PAH | c.1056T>G (p.Gly352=) c.1041T>G (p.Gly347=) n.815T>G n.718T>G c.160T>G n.571T>G c.999T>G (p.Gly333=) | |
| 12 | g.102844345A>G | CA481375737 | PAH | c.1056T>C (p.Gly352=) c.1041T>C (p.Gly347=) n.815T>C n.718T>C c.160T>C n.571T>C c.999T>C (p.Gly333=) | |
| 12 | g.102844345A>T | CA481375738 | PAH | c.1056T>A (p.Gly352=) c.1041T>A (p.Gly347=) n.815T>A n.718T>A c.160T>A n.571T>A c.999T>A (p.Gly333=) | |
| 12 | g.102844345_102844346delinsAC | CA2059448027 | PAH | c.1055_1056delinsGT (p.Gly352=) c.1040_1041delinsGT (p.Gly347=) n.814_815delinsGT n.717_718delinsGT c.159_160delinsGT n.570_571delinsGT c.998_999delinsGT (p.Gly333=) | |
| 12 | g.102844346C>A | CA386493396 | PAH | c.1055G>T (p.Gly352Val) c.1040G>T (p.Gly347Val) n.814G>T n.717G>T c.159G>T n.570G>T c.998G>T (p.Gly333Val) | |
| 12 | g.102844346C>G | CA386493395 | PAH | c.1055G>C (p.Gly352Ala) c.1040G>C (p.Gly347Ala) n.814G>C n.717G>C c.159G>C n.570G>C c.998G>C (p.Gly333Ala) | |
| 12 | g.102844346C>T | CA386493397 | PAH | c.1055G>A (p.Gly352Asp) c.1040G>A (p.Gly347Asp) n.814G>A n.717G>A c.159G>A n.570G>A c.998G>A (p.Gly333Asp) | |
| 12 | g.102844347del | CA229311 | PAH | c.1055del (p.Gly352ValfsTer?) c.1040del (p.Gly347ValfsTer?) n.814del n.717del c.159del n.570del c.998del (p.Gly333ValfsTer?) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.102844347C>A | CA229309 | PAH | c.1054G>T (p.Gly352Cys) c.1039G>T (p.Gly347Cys) n.813G>T n.716G>T c.158G>T n.569G>T c.997G>T (p.Gly333Cys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844347C= | CA2059448042 | PAH | c.1054G= (p.Gly352=) c.1039G= (p.Gly347=) n.813G= n.716G= c.158G= n.569G= c.997G= (p.Gly333=) | |
| 12 | g.102844347C>G | CA229307 | PAH | c.1054G>C (p.Gly352Arg) c.1039G>C (p.Gly347Arg) n.813G>C n.716G>C c.158G>C n.569G>C c.997G>C (p.Gly333Arg) | ClinVar dbSNP |
| 12 | g.102844347C>T | CA386493398 | PAH | c.1054G>A (p.Gly352Ser) c.1039G>A (p.Gly347Ser) n.813G>A n.716G>A c.158G>A n.569G>A c.997G>A (p.Gly333Ser) | gnomAD v4 COSMIC |
| 12 | g.102844347_102844358delinsCAAAGGATGACA | CA2059448048 | PAH | c.1043_1054delinsTGTCATCCTTTG (p.Leu348=) c.1028_1039delinsTGTCATCCTTTG (p.Leu343=) n.802_813delinsTGTCATCCTTTG n.705_716delinsTGTCATCCTTTG c.147_158delinsTGTCATCCTTTG n.558_569delinsTGTCATCCTTTG c.986_997delinsTGTCATCCTTTG (p.Leu329=) | |
| 12 | g.102844348A>C | CA386493399 | PAH | c.1053T>G (p.Phe351Leu) c.1038T>G (p.Phe346Leu) n.812T>G n.715T>G c.157T>G n.568T>G c.996T>G (p.Phe332Leu) | |
| 12 | g.102844348A>G | CA481375741 | PAH | c.1053T>C (p.Phe351=) c.1038T>C (p.Phe346=) n.812T>C n.715T>C c.157T>C n.568T>C c.996T>C (p.Phe332=) | |
| 12 | g.102844348A>T | CA386493400 | PAH | c.1053T>A (p.Phe351Leu) c.1038T>A (p.Phe346Leu) n.812T>A n.715T>A c.157T>A n.568T>A c.996T>A (p.Phe332Leu) | |
| 12 | g.102844348_102844358del | CA229297 | PAH | c.1043_1053del (p.Leu348ArgfsTer2) c.1028_1038del (p.Leu343ArgfsTer2) n.802_812del n.705_715del c.147_157del n.558_568del c.986_996del (p.Leu329ArgfsTer2) | ClinVar dbSNP |
| 12 | g.102844349A>C | CA386493401 | PAH | c.1052T>G (p.Phe351Cys) c.1037T>G (p.Phe346Cys) n.811T>G n.714T>G c.156T>G n.567T>G c.995T>G (p.Phe332Cys) | |
| 12 | g.102844349A>G | CA386493402 | PAH | c.1052T>C (p.Phe351Ser) c.1037T>C (p.Phe346Ser) n.811T>C n.714T>C c.156T>C n.567T>C c.995T>C (p.Phe332Ser) | |
| 12 | g.102844349A>T | CA386493403 | PAH | c.1052T>A (p.Phe351Tyr) c.1037T>A (p.Phe346Tyr) n.811T>A n.714T>A c.156T>A n.567T>A c.995T>A (p.Phe332Tyr) | |
| 12 | g.102844350A>C | CA386493404 | PAH | c.1051T>G (p.Phe351Val) c.1036T>G (p.Phe346Val) n.810T>G n.713T>G c.155T>G n.566T>G c.994T>G (p.Phe332Val) | |
| 12 | g.102844350A>G | CA386493405 | PAH | c.1051T>C (p.Phe351Leu) c.1036T>C (p.Phe346Leu) n.810T>C n.713T>C c.155T>C n.566T>C c.994T>C (p.Phe332Leu) | gnomAD v4 |
| 12 | g.102844350A>T | CA386493406 | PAH | c.1051T>A (p.Phe351Ile) c.1036T>A (p.Phe346Ile) n.810T>A n.713T>A c.155T>A n.566T>A c.994T>A (p.Phe332Ile) | |
| 12 | g.102844351G>A | CA481375742 | PAH | c.1050C>T (p.Ser350=) c.1035C>T (p.Ser345=) n.809C>T n.712C>T c.154C>T n.565C>T c.993C>T (p.Ser331=) | COSMIC |
| 12 | g.102844351G>C | CA481375743 | PAH | c.1050C>G (p.Ser350=) c.1035C>G (p.Ser345=) n.809C>G n.712C>G c.154C>G n.565C>G c.993C>G (p.Ser331=) | ClinVar dbSNP |
| 12 | g.102844351G>T | CA481375744 | PAH | c.1050C>A (p.Ser350=) c.1035C>A (p.Ser345=) n.809C>A n.712C>A c.154C>A n.565C>A c.993C>A (p.Ser331=) | ClinVar |
| 12 | g.102844352G>A | CA386493407 | PAH | c.1049C>T (p.Ser350Phe) c.1034C>T (p.Ser345Phe) n.808C>T n.711C>T c.153C>T n.564C>T c.992C>T (p.Ser331Phe) | COSMIC |
| 12 | g.102844352G>C | CA386493408 | PAH | c.1049C>G (p.Ser350Cys) c.1034C>G (p.Ser345Cys) n.808C>G n.711C>G c.153C>G n.564C>G c.992C>G (p.Ser331Cys) | ClinVar |
| 12 | g.102844352G= | CA2059448060 | PAH | c.1049C= (p.Ser350=) c.1034C= (p.Ser345=) n.808C= n.711C= c.153C= n.564C= c.992C= (p.Ser331=) | |
| 12 | g.102844352G>T | CA229305 | PAH | c.1049C>A (p.Ser350Tyr) c.1034C>A (p.Ser345Tyr) n.808C>A n.711C>A c.153C>A n.564C>A c.992C>A (p.Ser331Tyr) | ClinVar dbSNP |
| 12 | g.102844353A= | CA2059448066 | PAH | c.1048T= (p.Ser350=) c.1033T= (p.Ser345=) n.807T= n.710T= c.152T= n.563T= c.991T= (p.Ser331=) | |
| 12 | g.102844353A>C | CA386493410 | PAH | c.1048T>G (p.Ser350Ala) c.1033T>G (p.Ser345Ala) n.807T>G n.710T>G c.152T>G n.563T>G c.991T>G (p.Ser331Ala) | |
| 12 | g.102844353A>G | CA386493409 | PAH | c.1048T>C (p.Ser350Pro) c.1033T>C (p.Ser345Pro) n.807T>C n.710T>C c.152T>C n.563T>C c.991T>C (p.Ser331Pro) | |
| 12 | g.102844353A>T | CA229304 | PAH | c.1048T>A (p.Ser350Thr) c.1033T>A (p.Ser345Thr) n.807T>A n.710T>A c.152T>A n.563T>A c.991T>A (p.Ser331Thr) | ClinVar dbSNP |
| 12 | g.102844354T>A | CA6748763 | PAH | c.1047A>T (p.Ser349=) c.1032A>T (p.Ser344=) n.806A>T n.709A>T c.151A>T n.562A>T c.990A>T (p.Ser330=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102844354T>C | CA481375745 | PAH | c.1047A>G (p.Ser349=) c.1032A>G (p.Ser344=) n.806A>G n.709A>G c.151A>G n.562A>G c.990A>G (p.Ser330=) | |
| 12 | g.102844354T>G | CA481375746 | PAH | c.1047A>C (p.Ser349=) c.1032A>C (p.Ser344=) n.806A>C n.709A>C c.151A>C n.562A>C c.990A>C (p.Ser330=) | |
| 12 | g.102844354T= | CA2059448077 | PAH | c.1047A= (p.Ser349=) c.1032A= (p.Ser344=) n.806A= n.709A= c.151A= n.562A= c.990A= (p.Ser330=) | |
| 12 | g.102844354_102844357dup | CA229303 | PAH | c.1044_1047dup (p.Ser350ValfsTer5) c.1029_1032dup (p.Ser345ValfsTer5) n.803_806dup n.706_709dup c.148_151dup n.559_562dup c.987_990dup (p.Ser331ValfsTer5) | ClinVar dbSNP |
| 12 | g.102844355G>A | CA229302 | PAH | c.1046C>T (p.Ser349Leu) c.1031C>T (p.Ser344Leu) n.805C>T n.708C>T c.150C>T n.561C>T c.989C>T (p.Ser330Leu) | ClinVar dbSNP |
| 12 | g.102844355G>C | CA386493411 | PAH | c.1046C>G (p.Ser349Ter) c.1031C>G (p.Ser344Ter) n.805C>G n.708C>G c.150C>G n.561C>G c.989C>G (p.Ser330Ter) | |
| 12 | g.102844355G= | CA2059448088 | PAH | c.1046C= (p.Ser349=) c.1031C= (p.Ser344=) n.805C= n.708C= c.150C= n.561C= c.989C= (p.Ser330=) | |
| 12 | g.102844355G>T | CA229300 | PAH | c.1046C>A (p.Ser349Ter) c.1031C>A (p.Ser344Ter) n.805C>A n.708C>A c.150C>A n.561C>A c.989C>A (p.Ser330Ter) | ClinVar dbSNP |
| 12 | g.102844355_102844356delinsCG | CA913187351 | PAH | c.1045_1046delinsCG (p.Ser349Arg) c.1030_1031delinsCG (p.Ser344Arg) n.804_805delinsCG n.707_708delinsCG c.149_150delinsCG n.560_561delinsCG c.988_989delinsCG (p.Ser330Arg) | |
| 12 | g.102844356A= | CA2059448099 | PAH | c.1045T= (p.Ser349=) c.1030T= (p.Ser344=) n.804T= n.707T= c.149T= n.560T= c.988T= (p.Ser330=) | |
| 12 | g.102844356A>C | CA229298 | PAH | c.1045T>G (p.Ser349Ala) c.1030T>G (p.Ser344Ala) n.804T>G n.707T>G c.149T>G n.560T>G c.988T>G (p.Ser330Ala) | ClinVar dbSNP |
| 12 | g.102844356A>G | CA251542 | PAH | c.1045T>C (p.Ser349Pro) c.1030T>C (p.Ser344Pro) n.804T>C n.707T>C c.149T>C n.560T>C c.988T>C (p.Ser330Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844356A>T | CA386493412 | PAH | c.1045T>A (p.Ser349Thr) c.1030T>A (p.Ser344Thr) n.804T>A n.707T>A c.149T>A n.560T>A c.988T>A (p.Ser330Thr) | |
| 12 | g.102844357C>A | CA481375749 | PAH | c.1044G>T (p.Leu348=) c.1029G>T (p.Leu343=) n.803G>T n.706G>T c.148G>T n.559G>T c.987G>T (p.Leu329=) | |
| 12 | g.102844357C>G | CA481375750 | PAH | c.1044G>C (p.Leu348=) c.1029G>C (p.Leu343=) n.803G>C n.706G>C c.148G>C n.559G>C c.987G>C (p.Leu329=) | |
| 12 | g.102844357C>T | CA481375751 | PAH | c.1044G>A (p.Leu348=) c.1029G>A (p.Leu343=) n.803G>A n.706G>A c.148G>A n.559G>A c.987G>A (p.Leu329=) | gnomAD v4 |
| 12 | g.102844360_102844367del | CA2695217228 | PAH | c.1037_1044del (p.Gly346ValfsTer5) c.1022_1029del (p.Gly341ValfsTer5) n.796_803del n.699_706del c.141_148del n.552_559del c.980_987del (p.Gly327ValfsTer5) | |
| 12 | g.102844358A= | CA2059448111 | PAH | c.1043T= (p.Leu348=) c.1028T= (p.Leu343=) n.802T= n.705T= c.147T= n.558T= c.986T= (p.Leu329=) | |
| 12 | g.102844358A>C | CA386493413 | PAH | c.1043T>G (p.Leu348Arg) c.1028T>G (p.Leu343Arg) n.802T>G n.705T>G c.147T>G n.558T>G c.986T>G (p.Leu329Arg) | |
| 12 | g.102844358A>G | CA16020922 | PAH | c.1043T>C (p.Leu348Pro) c.1028T>C (p.Leu343Pro) n.802T>C n.705T>C c.147T>C n.558T>C c.986T>C (p.Leu329Pro) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844358A>T | CA386493414 | PAH | c.1043T>A (p.Leu348Gln) c.1028T>A (p.Leu343Gln) n.802T>A n.705T>A c.147T>A n.558T>A c.986T>A (p.Leu329Gln) | gnomAD v4 |
| 12 | g.102844359G>A | CA481375752 | PAH | c.1042C>T (p.Leu348=) c.1027C>T (p.Leu343=) n.801C>T n.704C>T c.146C>T n.557C>T c.985C>T (p.Leu329=) | |
| 12 | g.102844359G>C | CA220576 | PAH | c.1042C>G (p.Leu348Val) c.1027C>G (p.Leu343Val) n.801C>G n.704C>G c.146C>G n.557C>G c.985C>G (p.Leu329Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844359G= | CA2059448115 | PAH | c.1042C= (p.Leu348=) c.1027C= (p.Leu343=) n.801C= n.704C= c.146C= n.557C= c.985C= (p.Leu329=) | |
| 12 | g.102844359G>T | CA386493415 | PAH | c.1042C>A (p.Leu348Met) c.1027C>A (p.Leu343Met) n.801C>A n.704C>A c.146C>A n.557C>A c.985C>A (p.Leu329Met) | |
| 12 | g.102844360G>A | CA481375753 | PAH | c.1041C>T (p.Leu347=) c.1026C>T (p.Leu342=) n.800C>T n.703C>T c.145C>T n.556C>T c.984C>T (p.Leu328=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102844360G>C | CA481375754 | PAH | c.1041C>G (p.Leu347=) c.1026C>G (p.Leu342=) n.800C>G n.703C>G c.145C>G n.556C>G c.984C>G (p.Leu328=) | |
| 12 | g.102844360G= | CA2059448126 | PAH | c.1041C= (p.Leu347=) c.1026C= (p.Leu342=) n.800C= n.703C= c.145C= n.556C= c.984C= (p.Leu328=) | |
| 12 | g.102844360G>T | CA481375755 | PAH | c.1041C>A (p.Leu347=) c.1026C>A (p.Leu342=) n.800C>A n.703C>A c.145C>A n.556C>A c.984C>A (p.Leu328=) | |
| 12 | g.102844361A= | CA2059448130 | PAH | c.1040T= (p.Leu347=) c.1025T= (p.Leu342=) n.799T= n.702T= c.144T= n.555T= c.983T= (p.Leu328=) | |
| 12 | g.102844361A>C | CA242744442 | PAH | c.1040T>G (p.Leu347Arg) c.1025T>G (p.Leu342Arg) n.799T>G n.702T>G c.144T>G n.555T>G c.983T>G (p.Leu328Arg) | dbSNP |
| 12 | g.102844361A>G | CA386493416 | PAH | c.1040T>C (p.Leu347Pro) c.1025T>C (p.Leu342Pro) n.799T>C n.702T>C c.144T>C n.555T>C c.983T>C (p.Leu328Pro) | |
| 12 | g.102844361A>T | CA386493417 | PAH | c.1040T>A (p.Leu347His) c.1025T>A (p.Leu342His) n.799T>A n.702T>A c.144T>A n.555T>A c.983T>A (p.Leu328His) | |
| 12 | g.102844362G>A | CA229296 | PAH | c.1039C>T (p.Leu347Phe) c.1024C>T (p.Leu342Phe) n.798C>T n.701C>T c.143C>T n.554C>T c.982C>T (p.Leu328Phe) | ClinVar dbSNP |
| 12 | g.102844362G>C | CA386493418 | PAH | c.1039C>G (p.Leu347Val) c.1024C>G (p.Leu342Val) n.798C>G n.701C>G c.143C>G n.554C>G c.982C>G (p.Leu328Val) | |
| 12 | g.102844362G= | CA2059448140 | PAH | c.1039C= (p.Leu347=) c.1024C= (p.Leu342=) n.798C= n.701C= c.143C= n.554C= c.982C= (p.Leu328=) | |
| 12 | g.102844362G>T | CA386493419 | PAH | c.1039C>A (p.Leu347Ile) c.1024C>A (p.Leu342Ile) n.798C>A n.701C>A c.143C>A n.554C>A c.982C>A (p.Leu328Ile) | |
| 12 | g.102844362_102844363delinsGC | CA2059448138 | PAH | c.1038_1039delinsGC (p.Gly346=) c.1023_1024delinsGC (p.Gly341=) n.797_798delinsGC n.700_701delinsGC c.142_143delinsGC n.553_554delinsGC c.981_982delinsGC (p.Gly327=) | |
| 12 | g.102844363C>A | CA481375756 | PAH | c.1038G>T (p.Gly346=) c.1023G>T (p.Gly341=) n.797G>T n.700G>T c.142G>T n.553G>T c.981G>T (p.Gly327=) | |
| 12 | g.102844363C>G | CA481375757 | PAH | c.1038G>C (p.Gly346=) c.1023G>C (p.Gly341=) n.797G>C n.700G>C c.142G>C n.553G>C c.981G>C (p.Gly327=) | |
| 12 | g.102844363C>T | CA481375758 | PAH | c.1038G>A (p.Gly346=) c.1023G>A (p.Gly341=) n.797G>A n.700G>A c.142G>A n.553G>A c.981G>A (p.Gly327=) | |
| 12 | g.102844365del | CA229295 | PAH | c.1038del (p.Leu347SerfsTer?) c.1023del (p.Leu342SerfsTer?) n.797del n.700del c.142del n.553del c.981del (p.Leu328SerfsTer?) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844364C>A | CA386493420 | PAH | c.1037G>T (p.Gly346Val) c.1022G>T (p.Gly341Val) n.796G>T n.699G>T c.141G>T n.552G>T c.980G>T (p.Gly327Val) | gnomAD v4 |
| 12 | g.102844364C= | CA2059448155 | PAH | c.1037G= (p.Gly346=) c.1022G= (p.Gly341=) n.796G= n.699G= c.141G= n.552G= c.980G= (p.Gly327=) | |
| 12 | g.102844364C>G | CA386493421 | PAH | c.1037G>C (p.Gly346Ala) c.1022G>C (p.Gly341Ala) n.796G>C n.699G>C c.141G>C n.552G>C c.980G>C (p.Gly327Ala) | COSMIC |
| 12 | g.102844364C>T | CA16020921 | PAH | c.1037G>A (p.Gly346Glu) c.1022G>A (p.Gly341Glu) n.796G>A n.699G>A c.141G>A n.552G>A c.980G>A (p.Gly327Glu) | ClinVar dbSNP |
| 12 | g.102844365C>A | CA386493422 | PAH | c.1036G>T (p.Gly346Trp) c.1021G>T (p.Gly341Trp) n.795G>T n.698G>T c.140G>T n.551G>T c.979G>T (p.Gly327Trp) | |
| 12 | g.102844365C= | CA2059448169 | PAH | c.1036G= (p.Gly346=) c.1021G= (p.Gly341=) n.795G= n.698G= c.140G= n.551G= c.979G= (p.Gly327=) | |
| 12 | g.102844365C>G | CA229294 | PAH | c.1036G>C (p.Gly346Arg) c.1021G>C (p.Gly341Arg) n.795G>C n.698G>C c.140G>C n.551G>C c.979G>C (p.Gly327Arg) | ClinVar dbSNP |
| 12 | g.102844365C>T | CA229292 | PAH | c.1036G>A (p.Gly346Arg) c.1021G>A (p.Gly341Arg) n.795G>A n.698G>A c.140G>A n.551G>A c.979G>A (p.Gly327Arg) | ClinVar dbSNP |
| 12 | g.102844366A>C | CA481375759 | PAH | c.1035T>G (p.Ala345=) c.1020T>G (p.Ala340=) n.794T>G n.697T>G c.139T>G n.550T>G c.978T>G (p.Ala326=) | |
| 12 | g.102844366A>G | CA481375760 | PAH | c.1035T>C (p.Ala345=) c.1020T>C (p.Ala340=) n.794T>C n.697T>C c.139T>C n.550T>C c.978T>C (p.Ala326=) | |
| 12 | g.102844366A>T | CA481375761 | PAH | c.1035T>A (p.Ala345=) c.1020T>A (p.Ala340=) n.794T>A n.697T>A c.139T>A n.550T>A c.978T>A (p.Ala326=) | COSMIC |
| 12 | g.102844367G>A | CA386493425 | PAH | c.1034C>T (p.Ala345Val) c.1019C>T (p.Ala340Val) n.793C>T n.696C>T c.138C>T n.549C>T c.977C>T (p.Ala326Val) | |
| 12 | g.102844367G>C | CA386493423 | PAH | c.1034C>G (p.Ala345Gly) c.1019C>G (p.Ala340Gly) n.793C>G n.696C>G c.138C>G n.549C>G c.977C>G (p.Ala326Gly) | |
| 12 | g.102844367G>T | CA386493424 | PAH | c.1034C>A (p.Ala345Asp) c.1019C>A (p.Ala340Asp) n.793C>A n.696C>A c.138C>A n.549C>A c.977C>A (p.Ala326Asp) | |
| 12 | g.102844368C>A | CA286497 | PAH | c.1033G>T (p.Ala345Ser) c.1018G>T (p.Ala340Ser) n.792G>T n.695G>T c.137G>T n.548G>T c.976G>T (p.Ala326Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844368C= | CA2059448188 | PAH | c.1033G= (p.Ala345=) c.1018G= (p.Ala340=) n.792G= n.695G= c.137G= n.548G= c.976G= (p.Ala326=) | |
| 12 | g.102844368C>G | CA386493426 | PAH | c.1033G>C (p.Ala345Pro) c.1018G>C (p.Ala340Pro) n.792G>C n.695G>C c.137G>C n.548G>C c.976G>C (p.Ala326Pro) | |
| 12 | g.102844368C>T | CA229291 | PAH | c.1033G>A (p.Ala345Thr) c.1018G>A (p.Ala340Thr) n.792G>A n.695G>A c.137G>A n.548G>A c.976G>A (p.Ala326Thr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844369A= | CA2059448205 | PAH | c.1032T= (p.Gly344=) c.1017T= (p.Gly339=) n.791T= n.694T= c.136T= n.547T= c.975T= (p.Gly325=) | |
| 12 | g.102844369A>C | CA481375762 | PAH | c.1032T>G (p.Gly344=) c.1017T>G (p.Gly339=) n.791T>G n.694T>G c.136T>G n.547T>G c.975T>G (p.Gly325=) | |
| 12 | g.102844369A>G | CA6748764 | PAH | c.1032T>C (p.Gly344=) c.1017T>C (p.Gly339=) n.791T>C n.694T>C c.136T>C n.547T>C c.975T>C (p.Gly325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102844369A>T | CA481375763 | PAH | c.1032T>A (p.Gly344=) c.1017T>A (p.Gly339=) n.791T>A n.694T>A c.136T>A n.547T>A c.975T>A (p.Gly325=) | |
| 12 | g.102844370C>A | CA229290 | PAH | c.1031G>T (p.Gly344Val) c.1016G>T (p.Gly339Val) n.790G>T n.693G>T c.135G>T n.546G>T c.974G>T (p.Gly325Val) | ClinVar dbSNP |
| 12 | g.102844370C= | CA2059448215 | PAH | c.1031G= (p.Gly344=) c.1016G= (p.Gly339=) n.790G= n.693G= c.135G= n.546G= c.974G= (p.Gly325=) | |
| 12 | g.102844370C>G | CA386493427 | PAH | c.1031G>C (p.Gly344Ala) c.1016G>C (p.Gly339Ala) n.790G>C n.693G>C c.135G>C n.546G>C c.974G>C (p.Gly325Ala) | |
| 12 | g.102844370C>T | CA229288 | PAH | c.1031G>A (p.Gly344Asp) c.1016G>A (p.Gly339Asp) n.790G>A n.693G>A c.135G>A n.546G>A c.974G>A (p.Gly325Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844371C>A | CA386493428 | PAH | c.1030G>T (p.Gly344Cys) c.1015G>T (p.Gly339Cys) n.789G>T n.692G>T c.134G>T n.545G>T c.973G>T (p.Gly325Cys) | |
| 12 | g.102844371C= | CA2059448233 | PAH | c.1030G= (p.Gly344=) c.1015G= (p.Gly339=) n.789G= n.692G= c.134G= n.545G= c.973G= (p.Gly325=) | |
| 12 | g.102844371C>G | CA229287 | PAH | c.1030G>C (p.Gly344Arg) c.1015G>C (p.Gly339Arg) n.789G>C n.692G>C c.134G>C n.545G>C c.973G>C (p.Gly325Arg) | ClinVar dbSNP |
| 12 | g.102844371C>T | CA229285 | PAH | c.1030G>A (p.Gly344Ser) c.1015G>A (p.Gly339Ser) n.789G>A n.692G>A c.134G>A n.545G>A c.973G>A (p.Gly325Ser) | ClinVar dbSNP COSMIC |
| 12 | g.102844372A= | CA2059448243 | PAH | c.1029T= (p.Tyr343=) c.1014T= (p.Tyr338=) n.788T= n.691T= c.133T= n.544T= c.972T= (p.Tyr324=) | |
| 12 | g.102844372A>C | CA386493429 | PAH | c.1029T>G (p.Tyr343Ter) c.1014T>G (p.Tyr338Ter) n.788T>G n.691T>G c.133T>G n.544T>G c.972T>G (p.Tyr324Ter) | ClinVar dbSNP |
| 12 | g.102844372A>G | CA481375764 | PAH | c.1029T>C (p.Tyr343=) c.1014T>C (p.Tyr338=) n.788T>C n.691T>C c.133T>C n.544T>C c.972T>C (p.Tyr324=) | ClinVar |
| 12 | g.102844372A>T | CA16020920 | PAH | c.1029T>A (p.Tyr343Ter) c.1014T>A (p.Tyr338Ter) n.788T>A n.691T>A c.133T>A n.544T>A c.972T>A (p.Tyr324Ter) | ClinVar dbSNP |
| 12 | g.102844373T>A | CA229283 | PAH | c.1028A>T (p.Tyr343Phe) c.1013A>T (p.Tyr338Phe) n.787A>T n.690A>T c.132A>T n.543A>T c.971A>T (p.Tyr324Phe) | ClinVar dbSNP |
| 12 | g.102844373T>C | CA229282 | PAH | c.1028A>G (p.Tyr343Cys) c.1013A>G (p.Tyr338Cys) n.787A>G n.690A>G c.132A>G n.543A>G c.971A>G (p.Tyr324Cys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844373T>G | CA386493430 | PAH | c.1028A>C (p.Tyr343Ser) c.1013A>C (p.Tyr338Ser) n.787A>C n.690A>C c.132A>C n.543A>C c.971A>C (p.Tyr324Ser) | |
| 12 | g.102844373T= | CA2059448252 | PAH | c.1028A= (p.Tyr343=) c.1013A= (p.Tyr338=) n.787A= n.690A= c.132A= n.543A= c.971A= (p.Tyr324=) | |
| 12 | g.102844374A= | CA2059448265 | PAH | c.1027T= (p.Tyr343=) c.1012T= (p.Tyr338=) n.786T= n.689T= c.131T= n.542T= c.970T= (p.Tyr324=) | |
| 12 | g.102844374A>C | CA229280 | PAH | c.1027T>G (p.Tyr343Asp) c.1012T>G (p.Tyr338Asp) n.786T>G n.689T>G c.131T>G n.542T>G c.970T>G (p.Tyr324Asp) | ClinVar dbSNP |
| 12 | g.102844374A>G | CA386493431 | PAH | c.1027T>C (p.Tyr343His) c.1012T>C (p.Tyr338His) n.786T>C n.689T>C c.131T>C n.542T>C c.970T>C (p.Tyr324His) | |
| 12 | g.102844374A>T | CA16020919 | PAH | c.1027T>A (p.Tyr343Asn) c.1012T>A (p.Tyr338Asn) n.786T>A n.689T>A c.131T>A n.542T>A c.970T>A (p.Tyr324Asn) | ClinVar dbSNP |
| 12 | g.102844375T>A | CA481375765 | PAH | c.1026A>T (p.Ala342=) c.1011A>T (p.Ala337=) n.785A>T n.688A>T c.130A>T n.541A>T c.969A>T (p.Ala323=) | |
| 12 | g.102844375T>C | CA242744456 | PAH | c.1026A>G (p.Ala342=) c.1011A>G (p.Ala337=) n.785A>G n.688A>G c.130A>G n.541A>G c.969A>G (p.Ala323=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844375T>G | CA6748765 | PAH | c.1026A>C (p.Ala342=) c.1011A>C (p.Ala337=) n.785A>C n.688A>C c.130A>C n.541A>C c.969A>C (p.Ala323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102844375T= | CA2059448277 | PAH | c.1026A= (p.Ala342=) c.1011A= (p.Ala337=) n.785A= n.688A= c.130A= n.541A= c.969A= (p.Ala323=) | |
| 12 | g.102844376G>A | CA386493432 | PAH | c.1025C>T (p.Ala342Val) c.1010C>T (p.Ala337Val) n.784C>T n.687C>T c.129C>T n.540C>T c.968C>T (p.Ala323Val) | |
| 12 | g.102844376G>C | CA386493433 | PAH | c.1025C>G (p.Ala342Gly) c.1010C>G (p.Ala337Gly) n.784C>G n.687C>G c.129C>G n.540C>G c.968C>G (p.Ala323Gly) | |
| 12 | g.102844376G= | CA2059448286 | PAH | c.1025C= (p.Ala342=) c.1010C= (p.Ala337=) n.784C= n.687C= c.129C= n.540C= c.968C= (p.Ala323=) | |
| 12 | g.102844376G>T | CA275935 | PAH | c.1025C>A (p.Ala342Glu) c.1010C>A (p.Ala337Glu) n.784C>A n.687C>A c.129C>A n.540C>A c.968C>A (p.Ala323Glu) | ClinVar dbSNP |
| 12 | g.102844376_102844377delinsGC | CA2059448283 | PAH | c.1024_1025delinsGC (p.Ala342=) c.1009_1010delinsGC (p.Ala337=) n.783_784delinsGC n.686_687delinsGC c.128_129delinsGC n.539_540delinsGC c.967_968delinsGC (p.Ala323=) | |
| 12 | g.102844377C>A | CA386493434 | PAH | c.1024G>T (p.Ala342Ser) c.1009G>T (p.Ala337Ser) n.783G>T n.686G>T c.128G>T n.539G>T c.967G>T (p.Ala323Ser) | |
| 12 | g.102844377C= | CA2059448307 | PAH | c.1024G= (p.Ala342=) c.1009G= (p.Ala337=) n.783G= n.686G= c.128G= n.539G= c.967G= (p.Ala323=) | |
| 12 | g.102844377C>G | CA229277 | PAH | c.1024G>C (p.Ala342Pro) c.1009G>C (p.Ala337Pro) n.783G>C n.686G>C c.128G>C n.539G>C c.967G>C (p.Ala323Pro) | ClinVar dbSNP |
| 12 | g.102844377C>T | CA229276 | PAH | c.1024G>A (p.Ala342Thr) c.1009G>A (p.Ala337Thr) n.783G>A n.686G>A c.128G>A n.539G>A c.967G>A (p.Ala323Thr) | ClinVar dbSNP |
| 12 | g.102844378del | CA229279 | PAH | c.1024del (p.Ala342HisfsTer?) c.1009del (p.Ala337HisfsTer?) n.783del n.686del c.128del n.539del c.967del (p.Ala323HisfsTer?) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844381_102844394dup | CA2739277285 | PAH | c.1011_1024dup (p.Ala342GlufsTer4) c.996_1009dup (p.Ala337GlufsTer4) n.770_783dup n.673_686dup c.115_128dup n.526_539dup c.954_967dup (p.Ala323GlufsTer4) | ClinVar |
| 12 | g.102844378C>A | CA386493435 | PAH | c.1023G>T (p.Lys341Asn) c.1008G>T (p.Lys336Asn) n.782G>T n.685G>T c.127G>T n.538G>T c.966G>T (p.Lys322Asn) | |
| 12 | g.102844378C= | CA2059448320 | PAH | c.1023G= (p.Lys341=) c.1008G= (p.Lys336=) n.782G= n.685G= c.127G= n.538G= c.966G= (p.Lys322=) | |
| 12 | g.102844378C>G | CA386493436 | PAH | c.1023G>C (p.Lys341Asn) c.1008G>C (p.Lys336Asn) n.782G>C n.685G>C c.127G>C n.538G>C c.966G>C (p.Lys322Asn) | ClinVar |
| 12 | g.102844378C>T | CA6748766 | PAH | c.1023G>A (p.Lys341=) c.1008G>A (p.Lys336=) n.782G>A n.685G>A c.127G>A n.538G>A c.966G>A (p.Lys322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844379T>A | CA386493437 | PAH | c.1022A>T (p.Lys341Met) c.1007A>T (p.Lys336Met) n.781A>T n.684A>T c.126A>T n.537A>T c.965A>T (p.Lys322Met) | |
| 12 | g.102844379T>C | CA229275 | PAH | c.1022A>G (p.Lys341Arg) c.1007A>G (p.Lys336Arg) n.781A>G n.684A>G c.126A>G n.537A>G c.965A>G (p.Lys322Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844379T>G | CA229274 | PAH | c.1022A>C (p.Lys341Thr) c.1007A>C (p.Lys336Thr) n.781A>C n.684A>C c.126A>C n.537A>C c.965A>C (p.Lys322Thr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844379T= | CA2059448331 | PAH | c.1022A= (p.Lys341=) c.1007A= (p.Lys336=) n.781A= n.684A= c.126A= n.537A= c.965A= (p.Lys322=) | |
| 12 | g.102844381del | CA2620508480 | PAH | c.1022del (p.Lys341ArgfsTer?) c.1007del (p.Lys336ArgfsTer?) n.781del n.684del c.126del n.537del c.965del (p.Lys322ArgfsTer?) | gnomAD v4 |
| 12 | g.102844380_102844381del | CA2620508481 | PAH | c.1021_1022del (p.Lys341GlyfsTer12) c.1006_1007del (p.Lys336GlyfsTer12) n.780_781del n.683_684del c.125_126del n.536_537del c.964_965del (p.Lys322GlyfsTer12) | gnomAD v4 |
| 12 | g.102844380T>A | CA229272 | PAH | c.1021A>T (p.Lys341Ter) c.1006A>T (p.Lys336Ter) n.780A>T n.683A>T c.125A>T n.536A>T c.964A>T (p.Lys322Ter) | ClinVar dbSNP |
| 12 | g.102844380T>C | CA386493438 | PAH | c.1021A>G (p.Lys341Glu) c.1006A>G (p.Lys336Glu) n.780A>G n.683A>G c.125A>G n.536A>G c.964A>G (p.Lys322Glu) | |
| 12 | g.102844380T>G | CA386493439 | PAH | c.1021A>C (p.Lys341Gln) c.1006A>C (p.Lys336Gln) n.780A>C n.683A>C c.125A>C n.536A>C c.964A>C (p.Lys322Gln) | |
| 12 | g.102844380T= | CA2059448342 | PAH | c.1021A= (p.Lys341=) c.1006A= (p.Lys336=) n.780A= n.683A= c.125A= n.536A= c.964A= (p.Lys322=) | |
| 12 | g.102844381T>A | CA481375767 | PAH | c.1020A>T (p.Ile340=) c.1005A>T (p.Ile335=) n.779A>T n.682A>T c.124A>T n.535A>T c.963A>T (p.Ile321=) | |
| 12 | g.102844381T>C | CA386493440 | PAH | c.1020A>G (p.Ile340Met) c.1005A>G (p.Ile335Met) n.779A>G n.682A>G c.124A>G n.535A>G c.963A>G (p.Ile321Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844381T>G | CA481375768 | PAH | c.1020A>C (p.Ile340=) c.1005A>C (p.Ile335=) n.779A>C n.682A>C c.124A>C n.535A>C c.963A>C (p.Ile321=) | |
| 12 | g.102844381T= | CA2059448348 | PAH | c.1020A= (p.Ile340=) c.1005A= (p.Ile335=) n.779A= n.682A= c.124A= n.535A= c.963A= (p.Ile321=) | |
| 12 | g.102844382A= | CA2059448359 | PAH | c.1019T= (p.Ile340=) c.1004T= (p.Ile335=) n.778T= n.681T= c.123T= n.534T= c.962T= (p.Ile321=) | |
| 12 | g.102844382A>C | CA386493441 | PAH | c.1019T>G (p.Ile340Arg) c.1004T>G (p.Ile335Arg) n.778T>G n.681T>G c.123T>G n.534T>G c.962T>G (p.Ile321Arg) | |
| 12 | g.102844382A>G | CA229270 | PAH | c.1019T>C (p.Ile340Thr) c.1004T>C (p.Ile335Thr) n.778T>C n.681T>C c.123T>C n.534T>C c.962T>C (p.Ile321Thr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844382A>T | CA386493442 | PAH | c.1019T>A (p.Ile340Lys) c.1004T>A (p.Ile335Lys) n.778T>A n.681T>A c.123T>A n.534T>A c.962T>A (p.Ile321Lys) | |
| 12 | g.102844383T>A | CA386493443 | PAH | c.1018A>T (p.Ile340Leu) c.1003A>T (p.Ile335Leu) n.777A>T n.680A>T c.122A>T n.533A>T c.961A>T (p.Ile321Leu) | |
| 12 | g.102844383T>C | CA386493444 | PAH | c.1018A>G (p.Ile340Val) c.1003A>G (p.Ile335Val) n.777A>G n.680A>G c.122A>G n.533A>G c.961A>G (p.Ile321Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844383T>G | CA386493445 | PAH | c.1018A>C (p.Ile340Leu) c.1003A>C (p.Ile335Leu) n.777A>C n.680A>C c.122A>C n.533A>C c.961A>C (p.Ile321Leu) | gnomAD v4 |
| 12 | g.102844383T= | CA2059448367 | PAH | c.1018A= (p.Ile340=) c.1003A= (p.Ile335=) n.777A= n.680A= c.122A= n.533A= c.961A= (p.Ile321=) | |
| 12 | g.102844384G>A | CA481375770 | PAH | c.1017C>T (p.Ser339=) c.1002C>T (p.Ser334=) n.776C>T n.679C>T c.121C>T n.532C>T c.960C>T (p.Ser320=) | ClinVar |
| 12 | g.102844384G>C | CA481375769 | PAH | c.1017C>G (p.Ser339=) c.1002C>G (p.Ser334=) n.776C>G n.679C>G c.121C>G n.532C>G c.960C>G (p.Ser320=) | |
| 12 | g.102844384G>T | CA481375771 | PAH | c.1017C>A (p.Ser339=) c.1002C>A (p.Ser334=) n.776C>A n.679C>A c.121C>A n.532C>A c.960C>A (p.Ser320=) | |
| 12 | g.102844385G>A | CA386493446 | PAH | c.1016C>T (p.Ser339Phe) c.1001C>T (p.Ser334Phe) n.775C>T n.678C>T c.120C>T n.531C>T c.959C>T (p.Ser320Phe) | ClinVar |
| 12 | g.102844385G>C | CA386493447 | PAH | c.1016C>G (p.Ser339Cys) c.1001C>G (p.Ser334Cys) n.775C>G n.678C>G c.120C>G n.531C>G c.959C>G (p.Ser320Cys) | gnomAD v4 |
| 12 | g.102844385G>T | CA386493448 | PAH | c.1016C>A (p.Ser339Tyr) c.1001C>A (p.Ser334Tyr) n.775C>A n.678C>A c.120C>A n.531C>A c.959C>A (p.Ser320Tyr) | |
| 12 | g.102844386A>C | CA386493449 | PAH | c.1015T>G (p.Ser339Ala) c.1000T>G (p.Ser334Ala) n.774T>G n.677T>G c.119T>G n.530T>G c.958T>G (p.Ser320Ala) | |
| 12 | g.102844386A>G | CA386493451 | PAH | c.1015T>C (p.Ser339Pro) c.1000T>C (p.Ser334Pro) n.774T>C n.677T>C c.119T>C n.530T>C c.958T>C (p.Ser320Pro) | |
| 12 | g.102844386A>T | CA386493450 | PAH | c.1015T>A (p.Ser339Thr) c.1000T>A (p.Ser334Thr) n.774T>A n.677T>A c.119T>A n.530T>A c.958T>A (p.Ser320Thr) | |
| 12 | g.102844387G>A | CA481375772 | PAH | c.1014C>T (p.Asp338=) c.999C>T (p.Asp333=) n.773C>T n.676C>T c.118C>T n.529C>T c.957C>T (p.Asp319=) | |
| 12 | g.102844387G>C | CA386493452 | PAH | c.1014C>G (p.Asp338Glu) c.999C>G (p.Asp333Glu) n.773C>G n.676C>G c.118C>G n.529C>G c.957C>G (p.Asp319Glu) | |
| 12 | g.102844387G>T | CA386493453 | PAH | c.1014C>A (p.Asp338Glu) c.999C>A (p.Asp333Glu) n.773C>A n.676C>A c.118C>A n.529C>A c.957C>A (p.Asp319Glu) | |
| 12 | g.102844388T>A | CA386493454 | PAH | c.1013A>T (p.Asp338Val) c.998A>T (p.Asp333Val) n.772A>T n.675A>T c.117A>T n.528A>T c.956A>T (p.Asp319Val) | ClinVar gnomAD v4 |
| 12 | g.102844388T>C | CA386493455 | PAH | c.1013A>G (p.Asp338Gly) c.998A>G (p.Asp333Gly) n.772A>G n.675A>G c.117A>G n.528A>G c.956A>G (p.Asp319Gly) | gnomAD v4 |
| 12 | g.102844388T>G | CA386493456 | PAH | c.1013A>C (p.Asp338Ala) c.998A>C (p.Asp333Ala) n.772A>C n.675A>C c.117A>C n.528A>C c.956A>C (p.Asp319Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102844388T= | CA2059448372 | PAH | c.1013A= (p.Asp338=) c.998A= (p.Asp333=) n.772A= n.675A= c.117A= n.528A= c.956A= (p.Asp319=) | |
| 12 | g.102844389C>A | CA229269 | PAH | c.1012G>T (p.Asp338Tyr) c.997G>T (p.Asp333Tyr) n.771G>T n.674G>T c.116G>T n.527G>T c.955G>T (p.Asp319Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102844389C= | CA2059448375 | PAH | c.1012G= (p.Asp338=) c.997G= (p.Asp333=) n.771G= n.674G= c.116G= n.527G= c.955G= (p.Asp319=) | |
| 12 | g.102844389C>G | CA386493457 | PAH | c.1012G>C (p.Asp338His) c.997G>C (p.Asp333His) n.771G>C n.674G>C c.116G>C n.527G>C c.955G>C (p.Asp319His) | |
| 12 | g.102844389C>T | CA386493458 | PAH | c.1012G>A (p.Asp338Asn) c.997G>A (p.Asp333Asn) n.771G>A n.674G>A c.116G>A n.527G>A c.955G>A (p.Asp319Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102844390T>A | CA481375773 | PAH | c.1011A>T (p.Gly337=) c.996A>T (p.Gly332=) n.770A>T n.673A>T c.115A>T n.526A>T c.954A>T (p.Gly318=) | |
| 12 | g.102844390T>C | CA481375774 | PAH | c.1011A>G (p.Gly337=) c.996A>G (p.Gly332=) n.770A>G n.673A>G c.115A>G n.526A>G c.954A>G (p.Gly318=) | |
| 12 | g.102844390T>G | CA481375775 | PAH | c.1011A>C (p.Gly337=) c.996A>C (p.Gly332=) n.770A>C n.673A>C c.115A>C n.526A>C c.954A>C (p.Gly318=) | |
| 12 | g.102844391C>A | CA229268 | PAH | c.1010G>T (p.Gly337Val) c.995G>T (p.Gly332Val) n.769G>T n.672G>T c.114G>T n.525G>T c.953G>T (p.Gly318Val) | ClinVar dbSNP |
| 12 | g.102844391C= | CA2059448379 | PAH | c.1010G= (p.Gly337=) c.995G= (p.Gly332=) n.769G= n.672G= c.114G= n.525G= c.953G= (p.Gly318=) | |
| 12 | g.102844391C>G | CA386493459 | PAH | c.1010G>C (p.Gly337Ala) c.995G>C (p.Gly332Ala) n.769G>C n.672G>C c.114G>C n.525G>C c.953G>C (p.Gly318Ala) | |
| 12 | g.102844391C>T | CA6748767 | PAH | c.1010G>A (p.Gly337Glu) c.995G>A (p.Gly332Glu) n.769G>A n.672G>A c.114G>A n.525G>A c.953G>A (p.Gly318Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844392C>A | CA386493460 | PAH | c.1009G>T (p.Gly337Ter) c.994G>T (p.Gly332Ter) n.768G>T n.671G>T c.113G>T n.524G>T c.952G>T (p.Gly318Ter) | gnomAD v4 |
| 12 | g.102844392C>G | CA386493461 | PAH | c.1009G>C (p.Gly337Arg) c.994G>C (p.Gly332Arg) n.768G>C n.671G>C c.113G>C n.524G>C c.952G>C (p.Gly318Arg) | |
| 12 | g.102844392C>T | CA386493462 | PAH | c.1009G>A (p.Gly337Arg) c.994G>A (p.Gly332Arg) n.768G>A n.671G>A c.113G>A n.524G>A c.952G>A (p.Gly318Arg) | |
| 12 | g.102844393T>A | CA386493463 | PAH | c.1008A>T (p.Gln336His) c.993A>T (p.Gln331His) n.767A>T n.670A>T c.112A>T n.523A>T c.951A>T (p.Gln317His) | |
| 12 | g.102844393T>C | CA481375776 | PAH | c.1008A>G (p.Gln336=) c.993A>G (p.Gln331=) n.767A>G n.670A>G c.112A>G n.523A>G c.951A>G (p.Gln317=) | |
| 12 | g.102844393T>G | CA386493464 | PAH | c.1008A>C (p.Gln336His) c.993A>C (p.Gln331His) n.767A>C n.670A>C c.112A>C n.523A>C c.951A>C (p.Gln317His) | |
| 12 | g.102844394T>A | CA386493465 | PAH | c.1007A>T (p.Gln336Leu) c.992A>T (p.Gln331Leu) n.766A>T n.669A>T c.111A>T n.522A>T c.950A>T (p.Gln317Leu) | |
| 12 | g.102844394T>C | CA229266 | PAH | c.1007A>G (p.Gln336Arg) c.992A>G (p.Gln331Arg) n.766A>G n.669A>G c.111A>G n.522A>G c.950A>G (p.Gln317Arg) | ClinVar dbSNP |
| 12 | g.102844394T>G | CA386493466 | PAH | c.1007A>C (p.Gln336Pro) c.992A>C (p.Gln331Pro) n.766A>C n.669A>C c.111A>C n.522A>C c.950A>C (p.Gln317Pro) | |
| 12 | g.102844394T= | CA2059448389 | PAH | c.1007A= (p.Gln336=) c.992A= (p.Gln331=) n.766A= n.669A= c.111A= n.522A= c.950A= (p.Gln317=) | |
| 12 | g.102844395G>A | CA229264 | PAH | c.1006C>T (p.Gln336Ter) c.991C>T (p.Gln331Ter) n.765C>T n.668C>T c.110C>T n.521C>T c.949C>T (p.Gln317Ter) | ClinVar dbSNP |
| 12 | g.102844395G>C | CA6748768 | PAH | c.1006C>G (p.Gln336Glu) c.991C>G (p.Gln331Glu) n.765C>G n.668C>G c.110C>G n.521C>G c.949C>G (p.Gln317Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844395G= | CA2059448398 | PAH | c.1006C= (p.Gln336=) c.991C= (p.Gln331=) n.765C= n.668C= c.110C= n.521C= c.949C= (p.Gln317=) | |
| 12 | g.102844395G>T | CA386493467 | PAH | c.1006C>A (p.Gln336Lys) c.991C>A (p.Gln331Lys) n.765C>A n.668C>A c.110C>A n.521C>A c.949C>A (p.Gln317Lys) | |
| 12 | g.102844396T>A | CA386493468 | PAH | c.1005A>T (p.Lys335Asn) c.990A>T (p.Lys330Asn) n.764A>T n.667A>T c.109A>T n.520A>T c.948A>T (p.Lys316Asn) | gnomAD v4 |
| 12 | g.102844396T>C | CA481375777 | PAH | c.1005A>G (p.Lys335=) c.990A>G (p.Lys330=) n.764A>G n.667A>G c.109A>G n.520A>G c.948A>G (p.Lys316=) | |
| 12 | g.102844396T>G | CA386493469 | PAH | c.1005A>C (p.Lys335Asn) c.990A>C (p.Lys330Asn) n.764A>C n.667A>C c.109A>C n.520A>C c.948A>C (p.Lys316Asn) | |
| 12 | g.102844397T>A | CA386493470 | PAH | c.1004A>T (p.Lys335Ile) c.989A>T (p.Lys330Ile) n.763A>T n.666A>T c.108A>T n.519A>T c.947A>T (p.Lys316Ile) | |
| 12 | g.102844397T>C | CA386493471 | PAH | c.1004A>G (p.Lys335Arg) c.989A>G (p.Lys330Arg) n.763A>G n.666A>G c.108A>G n.519A>G c.947A>G (p.Lys316Arg) | |
| 12 | g.102844397T>G | CA267623 | PAH | c.1004A>C (p.Lys335Thr) c.989A>C (p.Lys330Thr) n.763A>C n.666A>C c.108A>C n.519A>C c.947A>C (p.Lys316Thr) | ClinVar dbSNP |
| 12 | g.102844397T= | CA2059448406 | PAH | c.1004A= (p.Lys335=) c.989A= (p.Lys330=) n.763A= n.666A= c.108A= n.519A= c.947A= (p.Lys316=) | |
| 12 | g.102844398T>A | CA386493473 | PAH | c.1003A>T (p.Lys335Ter) c.988A>T (p.Lys330Ter) n.762A>T n.665A>T c.107A>T n.518A>T c.946A>T (p.Lys316Ter) | |
| 12 | g.102844398T>C | CA10603769 | PAH | c.1003A>G (p.Lys335Glu) c.988A>G (p.Lys330Glu) n.762A>G n.665A>G c.107A>G n.518A>G c.946A>G (p.Lys316Glu) | ClinVar dbSNP |
| 12 | g.102844398T>G | CA386493472 | PAH | c.1003A>C (p.Lys335Gln) c.988A>C (p.Lys330Gln) n.762A>C n.665A>C c.107A>C n.518A>C c.946A>C (p.Lys316Gln) | |
| 12 | g.102844398T= | CA2059448415 | PAH | c.1003A= (p.Lys335=) c.988A= (p.Lys330=) n.762A= n.665A= c.107A= n.518A= c.946A= (p.Lys316=) | |
| 12 | g.102844399G>A | CA6748769 | PAH | c.1002C>T (p.Cys334=) c.987C>T (p.Cys329=) n.761C>T n.664C>T c.106C>T n.517C>T c.945C>T (p.Cys315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844399G>C | CA386493474 | PAH | c.1002C>G (p.Cys334Trp) c.987C>G (p.Cys329Trp) n.761C>G n.664C>G c.106C>G n.517C>G c.945C>G (p.Cys315Trp) | |
| 12 | g.102844399G= | CA2059448419 | PAH | c.1002C= (p.Cys334=) c.987C= (p.Cys329=) n.761C= n.664C= c.106C= n.517C= c.945C= (p.Cys315=) | |
| 12 | g.102844399G>T | CA16020918 | PAH | c.1002C>A (p.Cys334Ter) c.987C>A (p.Cys329Ter) n.761C>A n.664C>A c.106C>A n.517C>A c.945C>A (p.Cys315Ter) | ClinVar dbSNP |
| 12 | g.102844400C>A | CA386493475 | PAH | c.1001G>T (p.Cys334Phe) c.986G>T (p.Cys329Phe) n.760G>T n.663G>T c.105G>T n.516G>T c.944G>T (p.Cys315Phe) | |
| 12 | g.102844400C= | CA2059448426 | PAH | c.1001G= (p.Cys334=) c.986G= (p.Cys329=) n.760G= n.663G= c.105G= n.516G= c.944G= (p.Cys315=) | |
| 12 | g.102844400C>G | CA229263 | PAH | c.1001G>C (p.Cys334Ser) c.986G>C (p.Cys329Ser) n.760G>C n.663G>C c.105G>C n.516G>C c.944G>C (p.Cys315Ser) | ClinVar dbSNP |
| 12 | g.102844400C>T | CA386493476 | PAH | c.1001G>A (p.Cys334Tyr) c.986G>A (p.Cys329Tyr) n.760G>A n.663G>A c.105G>A n.516G>A c.944G>A (p.Cys315Tyr) | |
| 12 | g.102844401A>C | CA386493477 | PAH | c.1000T>G (p.Cys334Gly) c.985T>G (p.Cys329Gly) n.759T>G n.662T>G c.104T>G n.515T>G c.943T>G (p.Cys315Gly) | |
| 12 | g.102844401A>G | CA386493478 | PAH | c.1000T>C (p.Cys334Arg) c.985T>C (p.Cys329Arg) n.759T>C n.662T>C c.104T>C n.515T>C c.943T>C (p.Cys315Arg) | |
| 12 | g.102844401A>T | CA386493479 | PAH | c.1000T>A (p.Cys334Ser) c.985T>A (p.Cys329Ser) n.759T>A n.662T>A c.104T>A n.515T>A c.943T>A (p.Cys315Ser) | |
| 12 | g.102844402G>A | CA6748770 | PAH | c.999C>T (p.Leu333=) c.984C>T (p.Leu328=) n.758C>T n.661C>T c.103C>T n.514C>T c.942C>T (p.Leu314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102844402G>C | CA481375778 | PAH | c.999C>G (p.Leu333=) c.984C>G (p.Leu328=) n.758C>G n.661C>G c.103C>G n.514C>G c.942C>G (p.Leu314=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102844402G= | CA2059448429 | PAH | c.999C= (p.Leu333=) c.984C= (p.Leu328=) n.758C= n.661C= c.103C= n.514C= c.942C= (p.Leu314=) | |
| 12 | g.102844402G>T | CA481375779 | PAH | c.999C>A (p.Leu333=) c.984C>A (p.Leu328=) n.758C>A n.661C>A c.103C>A n.514C>A c.942C>A (p.Leu314=) | |
| 12 | g.102844403A= | CA2059448434 | PAH | c.998T= (p.Leu333=) c.983T= (p.Leu328=) n.757T= n.660T= c.102T= n.513T= c.941T= (p.Leu314=) | |
| 12 | g.102844403A>C | CA386493480 | PAH | c.998T>G (p.Leu333Arg) c.983T>G (p.Leu328Arg) n.757T>G n.660T>G c.102T>G n.513T>G c.941T>G (p.Leu314Arg) | |
| 12 | g.102844403A>G | CA16020917 | PAH | c.998T>C (p.Leu333Pro) c.983T>C (p.Leu328Pro) n.757T>C n.660T>C c.102T>C n.513T>C c.941T>C (p.Leu314Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102844403A>T | CA386493481 | PAH | c.998T>A (p.Leu333His) c.983T>A (p.Leu328His) n.757T>A n.660T>A c.102T>A n.513T>A c.941T>A (p.Leu314His) | |
| 12 | g.102844404G>A | CA114366 | PAH | c.997C>T (p.Leu333Phe) c.982C>T (p.Leu328Phe) n.756C>T n.659C>T c.101C>T n.512C>T c.940C>T (p.Leu314Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102844404G>C | CA386493482 | PAH | c.997C>G (p.Leu333Val) c.982C>G (p.Leu328Val) n.756C>G n.659C>G c.101C>G n.512C>G c.940C>G (p.Leu314Val) | |
| 12 | g.102844404G= | CA2059448438 | PAH | c.997C= (p.Leu333=) c.982C= (p.Leu328=) n.756C= n.659C= c.101C= n.512C= c.940C= (p.Leu314=) | |
| 12 | g.102844404G>T | CA386493483 | PAH | c.997C>A (p.Leu333Ile) c.982C>A (p.Leu328Ile) n.756C>A n.659C>A c.101C>A n.512C>A c.940C>A (p.Leu314Ile) | |
| 12 | g.102844405C>A | CA481375782 | PAH | c.996G>T (p.Gly332=) c.981G>T (p.Gly327=) n.755G>T n.658G>T c.100G>T n.511G>T c.939G>T (p.Gly313=) | |
| 12 | g.102844405C>G | CA481375783 | PAH | c.996G>C (p.Gly332=) c.981G>C (p.Gly327=) n.755G>C n.658G>C c.100G>C n.511G>C c.939G>C (p.Gly313=) | |
| 12 | g.102844405C>T | CA481375780 | PAH | c.996G>A (p.Gly332=) c.981G>A (p.Gly327=) n.755G>A n.658G>A c.100G>A n.511G>A c.939G>A (p.Gly313=) | |
| 12 | g.102844406C>A | CA16020916 | PAH | c.995G>T (p.Gly332Val) c.980G>T (p.Gly327Val) n.754G>T n.657G>T c.99G>T n.510G>T c.938G>T (p.Gly313Val) | |
| 12 | g.102844406C= | CA2059448448 | PAH | c.995G= (p.Gly332=) c.980G= (p.Gly327=) n.754G= n.657G= c.99G= n.510G= c.938G= (p.Gly313=) | |
| 12 | g.102844406C>G | CA386493484 | PAH | c.995G>C (p.Gly332Ala) c.980G>C (p.Gly327Ala) n.754G>C n.657G>C c.99G>C n.510G>C c.938G>C (p.Gly313Ala) | |
| 12 | g.102844406C>T | CA229897 | PAH | c.995G>A (p.Gly332Glu) c.980G>A (p.Gly327Glu) n.754G>A n.657G>A c.99G>A n.510G>A c.938G>A (p.Gly313Glu) | ClinVar dbSNP |
| 12 | g.102844407C>A | CA386493485 | PAH | c.994G>T (p.Gly332Trp) c.979G>T (p.Gly327Trp) n.753G>T n.656G>T c.98G>T n.509G>T c.937G>T (p.Gly313Trp) | |
| 12 | g.102844407C= | CA2059448455 | PAH | c.994G= (p.Gly332=) c.979G= (p.Gly327=) n.753G= n.656G= c.98G= n.509G= c.937G= (p.Gly313=) | |
| 12 | g.102844407C>G | CA386493487 | PAH | c.994G>C (p.Gly332Arg) c.979G>C (p.Gly327Arg) n.753G>C n.656G>C c.98G>C n.509G>C c.937G>C (p.Gly313Arg) | |
| 12 | g.102844407C>T | CA386493486 | PAH | c.994G>A (p.Gly332Arg) c.979G>A (p.Gly327Arg) n.753G>A n.656G>A c.98G>A n.509G>A c.937G>A (p.Gly313Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844408A>C | CA386493488 | PAH | c.993T>G (p.Phe331Leu) c.978T>G (p.Phe326Leu) n.752T>G n.655T>G c.97T>G n.508T>G c.936T>G (p.Phe312Leu) | |
| 12 | g.102844408A>G | CA481375784 | PAH | c.993T>C (p.Phe331=) c.978T>C (p.Phe326=) n.752T>C n.655T>C c.97T>C n.508T>C c.936T>C (p.Phe312=) | ClinVar gnomAD v4 |
| 12 | g.102844408A>T | CA386493489 | PAH | c.993T>A (p.Phe331Leu) c.978T>A (p.Phe326Leu) n.752T>A n.655T>A c.97T>A n.508T>A c.936T>A (p.Phe312Leu) | |
| 12 | g.102844409A= | CA2059448462 | PAH | c.992T= (p.Phe331=) c.977T= (p.Phe326=) n.751T= n.654T= c.96T= n.507T= c.935T= (p.Phe312=) | |
| 12 | g.102844409A>C | CA229895 | PAH | c.992T>G (p.Phe331Cys) c.977T>G (p.Phe326Cys) n.751T>G n.654T>G c.96T>G n.507T>G c.935T>G (p.Phe312Cys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844409A>G | CA16020915 | PAH | c.992T>C (p.Phe331Ser) c.977T>C (p.Phe326Ser) n.751T>C n.654T>C c.96T>C n.507T>C c.935T>C (p.Phe312Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102844409A>T | CA386493490 | PAH | c.992T>A (p.Phe331Tyr) c.977T>A (p.Phe326Tyr) n.751T>A n.654T>A c.96T>A n.507T>A c.935T>A (p.Phe312Tyr) | |
| 12 | g.102844410A= | CA2059448478 | PAH | c.991T= (p.Phe331=) c.976T= (p.Phe326=) n.750T= n.653T= c.95T= n.506T= c.934T= (p.Phe312=) | |
| 12 | g.102844410A>C | CA386493491 | PAH | c.991T>G (p.Phe331Val) c.976T>G (p.Phe326Val) n.750T>G n.653T>G c.95T>G n.506T>G c.934T>G (p.Phe312Val) | |
| 12 | g.102844410A>G | CA229894 | PAH | c.991T>C (p.Phe331Leu) c.976T>C (p.Phe326Leu) n.750T>C n.653T>C c.95T>C n.506T>C c.934T>C (p.Phe312Leu) | ClinVar dbSNP COSMIC |
| 12 | g.102844410A>T | CA386493492 | PAH | c.991T>A (p.Phe331Ile) c.976T>A (p.Phe326Ile) n.750T>A n.653T>A c.95T>A n.506T>A c.934T>A (p.Phe312Ile) | |
| 12 | g.102844411C>A | CA386493493 | PAH | c.990G>T (p.Glu330Asp) c.975G>T (p.Glu325Asp) n.749G>T n.652G>T c.94G>T n.505G>T c.933G>T (p.Glu311Asp) | |
| 12 | g.102844411C= | CA2059448480 | PAH | c.990G= (p.Glu330=) c.975G= (p.Glu325=) n.749G= n.652G= c.94G= n.505G= c.933G= (p.Glu311=) | |
| 12 | g.102844411C>G | CA229893 | PAH | c.990G>C (p.Glu330Asp) c.975G>C (p.Glu325Asp) n.749G>C n.652G>C c.94G>C n.505G>C c.933G>C (p.Glu311Asp) | ClinVar dbSNP |
| 12 | g.102844411C>T | CA481375785 | PAH | c.990G>A (p.Glu330=) c.975G>A (p.Glu325=) n.749G>A n.652G>A c.94G>A n.505G>A c.933G>A (p.Glu311=) | ClinVar |
| 12 | g.102844412T>A | CA386493496 | PAH | c.989A>T (p.Glu330Val) c.974A>T (p.Glu325Val) n.748A>T n.651A>T c.93A>T n.504A>T c.932A>T (p.Glu311Val) | |
| 12 | g.102844412T>C | CA386493495 | PAH | c.989A>G (p.Glu330Gly) c.974A>G (p.Glu325Gly) n.748A>G n.651A>G c.93A>G n.504A>G c.932A>G (p.Glu311Gly) | |
| 12 | g.102844412T>G | CA386493494 | PAH | c.989A>C (p.Glu330Ala) c.974A>C (p.Glu325Ala) n.748A>C n.651A>C c.93A>C n.504A>C c.932A>C (p.Glu311Ala) | |
| 12 | g.102844413C>A | CA386493499 | PAH | c.988G>T (p.Glu330Ter) c.973G>T (p.Glu325Ter) n.747G>T n.650G>T c.92G>T n.503G>T c.931G>T (p.Glu311Ter) | |
| 12 | g.102844413C= | CA2059448483 | PAH | c.988G= (p.Glu330=) c.973G= (p.Glu325=) n.747G= n.650G= c.92G= n.503G= c.931G= (p.Glu311=) | |
| 12 | g.102844413C>G | CA386493497 | PAH | c.988G>C (p.Glu330Gln) c.973G>C (p.Glu325Gln) n.747G>C n.650G>C c.92G>C n.503G>C c.931G>C (p.Glu311Gln) | |
| 12 | g.102844413C>T | CA386493498 | PAH | c.988G>A (p.Glu330Lys) c.973G>A (p.Glu325Lys) n.747G>A n.650G>A c.92G>A n.503G>A c.931G>A (p.Glu311Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102844413_102844414insACCCAA | CA2797243630 | PAH | c.987_988insTTGGGT (p.Val329_Glu330insLeuGly) c.972_973insTTGGGT (p.Val324_Glu325insLeuGly) n.746_747insTTGGGT n.649_650insTTGGGT c.91_92insTTGGGT n.502_503insTTGGGT c.930_931insTTGGGT (p.Val310_Glu311insLeuGly) | |
| 12 | g.102844414C>A | CA481375786 | PAH | c.987G>T (p.Val329=) c.972G>T (p.Val324=) n.746G>T n.649G>T c.91G>T n.502G>T c.930G>T (p.Val310=) | |
| 12 | g.102844414C= | CA2059448490 | PAH | c.987G= (p.Val329=) c.972G= (p.Val324=) n.746G= n.649G= c.91G= n.502G= c.930G= (p.Val310=) | |
| 12 | g.102844414C>G | CA481375787 | PAH | c.987G>C (p.Val329=) c.972G>C (p.Val324=) n.746G>C n.649G>C c.91G>C n.502G>C c.930G>C (p.Val310=) | |
| 12 | g.102844414C>T | CA481375788 | PAH | c.987G>A (p.Val329=) c.972G>A (p.Val324=) n.746G>A n.649G>A c.91G>A n.502G>A c.930G>A (p.Val310=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102844416_102844417del | CA2695217229 | PAH | c.986_987del (p.Val329GlyfsTer24) c.971_972del (p.Val324GlyfsTer24) n.745_746del n.648_649del c.90_91del n.501_502del c.929_930del (p.Val310GlyfsTer24) | |
| 12 | g.102844415A= | CA2059448493 | PAH | c.986T= (p.Val329=) c.971T= (p.Val324=) n.745T= n.648T= c.90T= n.501T= c.929T= (p.Val310=) | |
| 12 | g.102844415A>C | CA386493500 | PAH | c.986T>G (p.Val329Gly) c.971T>G (p.Val324Gly) n.745T>G n.648T>G c.90T>G n.501T>G c.929T>G (p.Val310Gly) | |
| 12 | g.102844415A>G | CA6748771 | PAH | c.986T>C (p.Val329Ala) c.971T>C (p.Val324Ala) n.745T>C n.648T>C c.90T>C n.501T>C c.929T>C (p.Val310Ala) | dbSNP ExAC gnomAD v2 |
| 12 | g.102844415A>T | CA386493501 | PAH | c.986T>A (p.Val329Glu) c.971T>A (p.Val324Glu) n.745T>A n.648T>A c.90T>A n.501T>A c.929T>A (p.Val310Glu) | |
| 12 | g.102844416C>A | CA386493502 | PAH | c.985G>T (p.Val329Leu) c.970G>T (p.Val324Leu) n.744G>T n.647G>T c.89G>T n.500G>T c.928G>T (p.Val310Leu) | COSMIC |
| 12 | g.102844416C= | CA2059448499 | PAH | c.985G= (p.Val329=) c.970G= (p.Val324=) n.744G= n.647G= c.89G= n.500G= c.928G= (p.Val310=) | |
| 12 | g.102844416C>G | CA386493503 | PAH | c.985G>C (p.Val329Leu) c.970G>C (p.Val324Leu) n.744G>C n.647G>C c.89G>C n.500G>C c.928G>C (p.Val310Leu) | |
| 12 | g.102844416C>T | CA242744487 | PAH | c.985G>A (p.Val329Met) c.970G>A (p.Val324Met) n.744G>A n.647G>A c.89G>A n.500G>A c.928G>A (p.Val310Met) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102844417A>C | CA481375789 | PAH | c.984T>G (p.Thr328=) c.969T>G (p.Thr323=) n.743T>G n.646T>G c.88T>G n.499T>G c.927T>G (p.Thr309=) | gnomAD v4 |
| 12 | g.102844417A>G | CA481375790 | PAH | c.984T>C (p.Thr328=) c.969T>C (p.Thr323=) n.743T>C n.646T>C c.88T>C n.499T>C c.927T>C (p.Thr309=) | |
| 12 | g.102844417A>T | CA481375791 | PAH | c.984T>A (p.Thr328=) c.969T>A (p.Thr323=) n.743T>A n.646T>A c.88T>A n.499T>A c.927T>A (p.Thr309=) | |
| 12 | g.102844418G>A | CA10603804 | PAH | c.983C>T (p.Thr328Ile) c.968C>T (p.Thr323Ile) n.742C>T n.645C>T c.87C>T n.498C>T c.926C>T (p.Thr309Ile) | ClinVar dbSNP |
| 12 | g.102844418G>C | CA386493504 | PAH | c.983C>G (p.Thr328Ser) c.968C>G (p.Thr323Ser) n.742C>G n.645C>G c.87C>G n.498C>G c.926C>G (p.Thr309Ser) | |
| 12 | g.102844418G= | CA2059448507 | PAH | c.983C= (p.Thr328=) c.968C= (p.Thr323=) n.742C= n.645C= c.87C= n.498C= c.926C= (p.Thr309=) | |
| 12 | g.102844418G>T | CA16020914 | PAH | c.983C>A (p.Thr328Asn) c.968C>A (p.Thr323Asn) n.742C>A n.645C>A c.87C>A n.498C>A c.926C>A (p.Thr309Asn) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844419T>A | CA386493505 | PAH | c.982A>T (p.Thr328Ser) c.967A>T (p.Thr323Ser) n.741A>T n.644A>T c.86A>T n.497A>T c.925A>T (p.Thr309Ser) | |
| 12 | g.102844419T>C | CA229891 | PAH | c.982A>G (p.Thr328Ala) c.967A>G (p.Thr323Ala) n.741A>G n.644A>G c.86A>G n.497A>G c.925A>G (p.Thr309Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102844419T>G | CA386493506 | PAH | c.982A>C (p.Thr328Pro) c.967A>C (p.Thr323Pro) n.741A>C n.644A>C c.86A>C n.497A>C c.925A>C (p.Thr309Pro) | |
| 12 | g.102844419T= | CA2059448514 | PAH | c.982A= (p.Thr328=) c.967A= (p.Thr323=) n.741A= n.644A= c.86A= n.497A= c.925A= (p.Thr309=) |