Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.42040018G>A | CA2682511704 | GLI3 | c.1028+20C>T (n.1028+20C>T) c.851+20C>T (n.851+20C>T) n.1005+20C>T c.1025+20C>T (n.1025+20C>T) | gnomAD v4 |
7 | g.42040018G>T | CA2682511705 | GLI3 | c.1028+20C>A (n.1028+20C>A) c.851+20C>A (n.851+20C>A) n.1005+20C>A c.1025+20C>A (n.1025+20C>A) | gnomAD v4 |
7 | g.42040019del | CA2578874152 | GLI3 | c.1028+20del (n.1028+20del) c.851+20del (n.851+20del) n.1005+20del c.1025+20del (n.1025+20del) | |
7 | g.42040019G>A | CA573770368 | GLI3 | c.1028+19C>T (n.1028+19C>T) c.851+19C>T (n.851+19C>T) n.1005+19C>T c.1025+19C>T (n.1025+19C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42040019G= | CA1702690979 | GLI3 | c.1028+19C= (n.1028+19C=) c.851+19C= (n.851+19C=) n.1005+19C= c.1025+19C= (n.1025+19C=) | |
7 | g.42040019G>T | CA2682511706 | GLI3 | c.1028+19C>A (n.1028+19C>A) c.851+19C>A (n.851+19C>A) n.1005+19C>A c.1025+19C>A (n.1025+19C>A) | gnomAD v4 |
7 | g.42040023C>A | CA2838166671 | GLI3 | c.1028+15G>T (n.1028+15G>T) c.851+15G>T (n.851+15G>T) n.1005+15G>T c.1025+15G>T (n.1025+15G>T) | |
7 | g.42040023C= | CA1702690982 | GLI3 | c.1028+15G= (n.1028+15G=) c.851+15G= (n.851+15G=) n.1005+15G= c.1025+15G= (n.1025+15G=) | |
7 | g.42040023C>G | CA2838166670 | GLI3 | c.1028+15G>C (n.1028+15G>C) c.851+15G>C (n.851+15G>C) n.1005+15G>C c.1025+15G>C (n.1025+15G>C) | |
7 | g.42040023C>T | CA4230991 | GLI3 | c.1028+15G>A (n.1028+15G>A) c.851+15G>A (n.851+15G>A) n.1005+15G>A c.1025+15G>A (n.1025+15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040024A= | CA1702690986 | GLI3 | c.1028+14T= (n.1028+14T=) c.851+14T= (n.851+14T=) n.1005+14T= c.1025+14T= (n.1025+14T=) | |
7 | g.42040024A>G | CA4230992 | GLI3 | c.1028+14T>C (n.1028+14T>C) c.851+14T>C (n.851+14T>C) n.1005+14T>C c.1025+14T>C (n.1025+14T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040025G>A | CA2518477544 | GLI3 | c.1028+13C>T (n.1028+13C>T) c.851+13C>T (n.851+13C>T) n.1005+13C>T c.1025+13C>T (n.1025+13C>T) | |
7 | g.42040025G>T | CA2578874153 | GLI3 | c.1028+13C>A (n.1028+13C>A) c.851+13C>A (n.851+13C>A) n.1005+13C>A c.1025+13C>A (n.1025+13C>A) | |
7 | g.42040026G>A | CA2578874154 | GLI3 | c.1028+12C>T (n.1028+12C>T) c.851+12C>T (n.851+12C>T) n.1005+12C>T c.1025+12C>T (n.1025+12C>T) | |
7 | g.42040026G= | CA1702690991 | GLI3 | c.1028+12C= (n.1028+12C=) c.851+12C= (n.851+12C=) n.1005+12C= c.1025+12C= (n.1025+12C=) | |
7 | g.42040026G>T | CA4230993 | GLI3 | c.1028+12C>A (n.1028+12C>A) c.851+12C>A (n.851+12C>A) n.1005+12C>A c.1025+12C>A (n.1025+12C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040031T>C | CA4230994 | GLI3 | c.1028+7A>G (n.1028+7A>G) c.851+7A>G (n.851+7A>G) n.1005+7A>G c.1025+7A>G (n.1025+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040031T= | CA1702690996 | GLI3 | c.1028+7A= (n.1028+7A=) c.851+7A= (n.851+7A=) n.1005+7A= c.1025+7A= (n.1025+7A=) | |
7 | g.42040033C>T | CA2682511707 | GLI3 | c.1028+5G>A (n.1028+5G>A) c.851+5G>A (n.851+5G>A) n.1005+5G>A c.1025+5G>A (n.1025+5G>A) | gnomAD v4 |
7 | g.42040034A= | CA1702690998 | GLI3 | c.1028+4T= (n.1028+4T=) c.851+4T= (n.851+4T=) n.1005+4T= c.1025+4T= (n.1025+4T=) | |
7 | g.42040034A>G | CA1702691000 | GLI3 | c.1028+4T>C (n.1028+4T>C) c.851+4T>C (n.851+4T>C) n.1005+4T>C c.1025+4T>C (n.1025+4T>C) | dbSNP gnomAD v4 |
7 | g.42040035T>A | CA4230995 | GLI3 | c.1028+3A>T (n.1028+3A>T) c.851+3A>T (n.851+3A>T) n.1005+3A>T c.1025+3A>T (n.1025+3A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040035T>C | CA4230996 | GLI3 | c.1028+3A>G (n.1028+3A>G) c.851+3A>G (n.851+3A>G) n.1005+3A>G c.1025+3A>G (n.1025+3A>G) | dbSNP ExAC gnomAD v4 |
7 | g.42040035T= | CA1702691002 | GLI3 | c.1028+3A= (n.1028+3A=) c.851+3A= (n.851+3A=) n.1005+3A= c.1025+3A= (n.1025+3A=) | |
7 | g.42040036A= | CA1702691007 | GLI3 | c.1028+2T= (n.1028+2T=) c.851+2T= (n.851+2T=) n.1005+2T= c.1025+2T= (n.1025+2T=) | |
7 | g.42040036A>C | CA367328334 | GLI3 | c.1028+2T>G (n.1028+2T>G) c.851+2T>G (n.851+2T>G) n.1005+2T>G c.1025+2T>G (n.1025+2T>G) | dbSNP |
7 | g.42040036A>G | CA367328340 | GLI3 | c.1028+2T>C (n.1028+2T>C) c.851+2T>C (n.851+2T>C) n.1005+2T>C c.1025+2T>C (n.1025+2T>C) | |
7 | g.42040036A>T | CA367328344 | GLI3 | c.1028+2T>A (n.1028+2T>A) c.851+2T>A (n.851+2T>A) n.1005+2T>A c.1025+2T>A (n.1025+2T>A) | |
7 | g.42040037C>A | CA367328348 | GLI3 | c.1028+1G>T (n.1028+1G>T) c.851+1G>T (n.851+1G>T) n.1005+1G>T c.1025+1G>T (n.1025+1G>T) | ClinVar |
7 | g.42040037C= | CA1702691018 | GLI3 | c.1028+1G= (n.1028+1G=) c.851+1G= (n.851+1G=) n.1005+1G= c.1025+1G= (n.1025+1G=) | |
7 | g.42040037C>G | CA367328351 | GLI3 | c.1028+1G>C (n.1028+1G>C) c.851+1G>C (n.851+1G>C) n.1005+1G>C c.1025+1G>C (n.1025+1G>C) | |
7 | g.42040037C>T | CA367328354 | GLI3 | c.1028+1G>A (n.1028+1G>A) c.851+1G>A (n.851+1G>A) n.1005+1G>A c.1025+1G>A (n.1025+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040038C>A | CA367328361 | GLI3 | c.1028G>T (p.Ser343Ile) c.851G>T (p.Ser284Ile) n.1005G>T c.1025G>T (p.Ser342Ile) | |
7 | g.42040038C= | CA1702691023 | GLI3 | c.1028G= (p.Ser343=) c.851G= (p.Ser284=) n.1005G= c.1025G= (p.Ser342=) | |
7 | g.42040038C>G | CA367328364 | GLI3 | c.1028G>C (p.Ser343Thr) c.851G>C (p.Ser284Thr) n.1005G>C c.1025G>C (p.Ser342Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42040038C>T | CA367328359 | GLI3 | c.1028G>A (p.Ser343Asn) c.851G>A (p.Ser284Asn) n.1005G>A c.1025G>A (p.Ser342Asn) | |
7 | g.42040039T>A | CA367328365 | GLI3 | c.1027A>T (p.Ser343Cys) c.850A>T (p.Ser284Cys) n.1004A>T c.1024A>T (p.Ser342Cys) | |
7 | g.42040039T>C | CA367328367 | GLI3 | c.1027A>G (p.Ser343Gly) c.850A>G (p.Ser284Gly) n.1004A>G c.1024A>G (p.Ser342Gly) | |
7 | g.42040039T>G | CA367328368 | GLI3 | c.1027A>C (p.Ser343Arg) c.850A>C (p.Ser284Arg) n.1004A>C c.1024A>C (p.Ser342Arg) | |
7 | g.42040040G>A | CA454532012 | GLI3 | c.1026C>T (p.Ile342=) c.849C>T (p.Ile283=) n.1003C>T c.1023C>T (p.Ile341=) | |
7 | g.42040040G>C | CA367328369 | GLI3 | c.1026C>G (p.Ile342Met) c.849C>G (p.Ile283Met) n.1003C>G c.1023C>G (p.Ile341Met) | gnomAD v4 |
7 | g.42040040G>T | CA454532019 | GLI3 | c.1026C>A (p.Ile342=) c.849C>A (p.Ile283=) n.1003C>A c.1023C>A (p.Ile341=) | |
7 | g.42040041A>C | CA367328378 | GLI3 | c.1025T>G (p.Ile342Ser) c.848T>G (p.Ile283Ser) n.1002T>G c.1022T>G (p.Ile341Ser) | |
7 | g.42040041A>G | CA367328371 | GLI3 | c.1025T>C (p.Ile342Thr) c.848T>C (p.Ile283Thr) n.1002T>C c.1022T>C (p.Ile341Thr) | |
7 | g.42040041A>T | CA367328370 | GLI3 | c.1025T>A (p.Ile342Asn) c.848T>A (p.Ile283Asn) n.1002T>A c.1022T>A (p.Ile341Asn) | |
7 | g.42040042T>A | CA367328380 | GLI3 | c.1024A>T (p.Ile342Phe) c.847A>T (p.Ile283Phe) n.1001A>T c.1021A>T (p.Ile341Phe) | |
7 | g.42040042T>C | CA4230997 | GLI3 | c.1024A>G (p.Ile342Val) c.847A>G (p.Ile283Val) n.1001A>G c.1021A>G (p.Ile341Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040042T>G | CA367328385 | GLI3 | c.1024A>C (p.Ile342Leu) c.847A>C (p.Ile283Leu) n.1001A>C c.1021A>C (p.Ile341Leu) | |
7 | g.42040042T= | CA1702691028 | GLI3 | c.1024A= (p.Ile342=) c.847A= (p.Ile283=) n.1001A= c.1021A= (p.Ile341=) | |
7 | g.42040043T>A | CA454532025 | GLI3 | c.1023A>T (p.Ala341=) c.846A>T (p.Ala282=) n.1000A>T c.1020A>T (p.Ala340=) | |
7 | g.42040043T>C | CA454532031 | GLI3 | c.1023A>G (p.Ala341=) c.846A>G (p.Ala282=) n.1000A>G c.1020A>G (p.Ala340=) | |
7 | g.42040043T>G | CA454532029 | GLI3 | c.1023A>C (p.Ala341=) c.846A>C (p.Ala282=) n.1000A>C c.1020A>C (p.Ala340=) | |
7 | g.42040044G>A | CA367328389 | GLI3 | c.1022C>T (p.Ala341Val) c.845C>T (p.Ala282Val) n.999C>T c.1019C>T (p.Ala340Val) | |
7 | g.42040044G>C | CA367328392 | GLI3 | c.1022C>G (p.Ala341Gly) c.845C>G (p.Ala282Gly) n.999C>G c.1019C>G (p.Ala340Gly) | |
7 | g.42040044G>T | CA367328395 | GLI3 | c.1022C>A (p.Ala341Glu) c.845C>A (p.Ala282Glu) n.999C>A c.1019C>A (p.Ala340Glu) | gnomAD v4 |
7 | g.42040044_42040045insT | CA645567068 | GLI3 | c.1021_1022insA (p.Ala341AspfsTer?) c.844_845insA (p.Ala282AspfsTer?) n.998_999insA c.1018_1019insA (p.Ala340AspfsTer?) | COSMIC |
7 | g.42040045C>A | CA367328400 | GLI3 | c.1021G>T (p.Ala341Ser) c.844G>T (p.Ala282Ser) n.998G>T c.1018G>T (p.Ala340Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42040045C= | CA1702691033 | GLI3 | c.1021G= (p.Ala341=) c.844G= (p.Ala282=) n.998G= c.1018G= (p.Ala340=) | |
7 | g.42040045C>G | CA367328404 | GLI3 | c.1021G>C (p.Ala341Pro) c.844G>C (p.Ala282Pro) n.998G>C c.1018G>C (p.Ala340Pro) | |
7 | g.42040045C>T | CA4230998 | GLI3 | c.1021G>A (p.Ala341Thr) c.844G>A (p.Ala282Thr) n.998G>A c.1018G>A (p.Ala340Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040046A>C | CA367328408 | GLI3 | c.1020T>G (p.Ser340Arg) c.843T>G (p.Ser281Arg) n.997T>G c.1017T>G (p.Ser339Arg) | |
7 | g.42040046A>G | CA454532044 | GLI3 | c.1020T>C (p.Ser340=) c.843T>C (p.Ser281=) n.997T>C c.1017T>C (p.Ser339=) | |
7 | g.42040046A>T | CA367328410 | GLI3 | c.1020T>A (p.Ser340Arg) c.843T>A (p.Ser281Arg) n.997T>A c.1017T>A (p.Ser339Arg) | |
7 | g.42040047C>A | CA367328414 | GLI3 | c.1019G>T (p.Ser340Ile) c.842G>T (p.Ser281Ile) n.996G>T c.1016G>T (p.Ser339Ile) | |
7 | g.42040047C>G | CA367328419 | GLI3 | c.1019G>C (p.Ser340Thr) c.842G>C (p.Ser281Thr) n.996G>C c.1016G>C (p.Ser339Thr) | |
7 | g.42040047C>T | CA367328417 | GLI3 | c.1019G>A (p.Ser340Asn) c.842G>A (p.Ser281Asn) n.996G>A c.1016G>A (p.Ser339Asn) | |
7 | g.42040047_42040048delinsCT | CA1702691043 | GLI3 | c.1018_1019delinsAG (p.Ser340=) c.841_842delinsAG (p.Ser281=) n.995_996delinsAG c.1015_1016delinsAG (p.Ser339=) | |
7 | g.42040048T>A | CA4230999 | GLI3 | c.1018A>T (p.Ser340Cys) c.841A>T (p.Ser281Cys) n.995A>T c.1015A>T (p.Ser339Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040048T>C | CA367328421 | GLI3 | c.1018A>G (p.Ser340Gly) c.841A>G (p.Ser281Gly) n.995A>G c.1015A>G (p.Ser339Gly) | gnomAD v4 |
7 | g.42040048T>G | CA367328422 | GLI3 | c.1018A>C (p.Ser340Arg) c.841A>C (p.Ser281Arg) n.995A>C c.1015A>C (p.Ser339Arg) | COSMIC |
7 | g.42040048T= | CA1702691054 | GLI3 | c.1018A= (p.Ser340=) c.841A= (p.Ser281=) n.995A= c.1015A= (p.Ser339=) | |
7 | g.42040049del | CA913186019 | GLI3 | c.1018del (p.Ser340ValfsTer7) c.841del (p.Ser281ValfsTer7) n.995del c.1015del (p.Ser339ValfsTer7) | ClinVar dbSNP |
7 | g.42040049T>A | CA454533025 | GLI3 | c.1017A>T (p.Ala339=) c.840A>T (p.Ala280=) n.994A>T c.1014A>T (p.Ala338=) | |
7 | g.42040049T>C | CA454533036 | GLI3 | c.1017A>G (p.Ala339=) c.840A>G (p.Ala280=) n.994A>G c.1014A>G (p.Ala338=) | |
7 | g.42040049T>G | CA454533039 | GLI3 | c.1017A>C (p.Ala339=) c.840A>C (p.Ala280=) n.994A>C c.1014A>C (p.Ala338=) | |
7 | g.42040050G>A | CA367329173 | GLI3 | c.1016C>T (p.Ala339Val) c.839C>T (p.Ala280Val) n.993C>T c.1013C>T (p.Ala338Val) | gnomAD v4 |
7 | g.42040050G>C | CA367329176 | GLI3 | c.1016C>G (p.Ala339Gly) c.839C>G (p.Ala280Gly) n.993C>G c.1013C>G (p.Ala338Gly) | |
7 | g.42040050G>T | CA367329178 | GLI3 | c.1016C>A (p.Ala339Glu) c.839C>A (p.Ala280Glu) n.993C>A c.1013C>A (p.Ala338Glu) | gnomAD v4 |
7 | g.42040051C>A | CA367329182 | GLI3 | c.1015G>T (p.Ala339Ser) c.838G>T (p.Ala280Ser) n.992G>T c.1012G>T (p.Ala338Ser) | |
7 | g.42040051C>G | CA367329184 | GLI3 | c.1015G>C (p.Ala339Pro) c.838G>C (p.Ala280Pro) n.992G>C c.1012G>C (p.Ala338Pro) | |
7 | g.42040051C>T | CA367329186 | GLI3 | c.1015G>A (p.Ala339Thr) c.838G>A (p.Ala280Thr) n.992G>A c.1012G>A (p.Ala338Thr) | COSMIC |
7 | g.42040052A>C | CA454533056 | GLI3 | c.1014T>G (p.Ser338=) c.837T>G (p.Ser279=) n.991T>G c.1011T>G (p.Ser337=) | |
7 | g.42040052A>G | CA454533050 | GLI3 | c.1014T>C (p.Ser338=) c.837T>C (p.Ser279=) n.991T>C c.1011T>C (p.Ser337=) | |
7 | g.42040052A>T | CA454533052 | GLI3 | c.1014T>A (p.Ser338=) c.837T>A (p.Ser279=) n.991T>A c.1011T>A (p.Ser337=) | |
7 | g.42040053G>A | CA367329188 | GLI3 | c.1013C>T (p.Ser338Phe) c.836C>T (p.Ser279Phe) n.990C>T c.1010C>T (p.Ser337Phe) | |
7 | g.42040053G>C | CA367329190 | GLI3 | c.1013C>G (p.Ser338Cys) c.836C>G (p.Ser279Cys) n.990C>G c.1010C>G (p.Ser337Cys) | |
7 | g.42040053G>T | CA367329192 | GLI3 | c.1013C>A (p.Ser338Tyr) c.836C>A (p.Ser279Tyr) n.990C>A c.1010C>A (p.Ser337Tyr) | |
7 | g.42040054A>C | CA367329199 | GLI3 | c.1012T>G (p.Ser338Ala) c.835T>G (p.Ser279Ala) n.989T>G c.1009T>G (p.Ser337Ala) | |
7 | g.42040054A>G | CA367329196 | GLI3 | c.1012T>C (p.Ser338Pro) c.835T>C (p.Ser279Pro) n.989T>C c.1009T>C (p.Ser337Pro) | dbSNP |
7 | g.42040054A>T | CA367329195 | GLI3 | c.1012T>A (p.Ser338Thr) c.835T>A (p.Ser279Thr) n.989T>A c.1009T>A (p.Ser337Thr) | |
7 | g.42040055T>A | CA367329201 | GLI3 | c.1011A>T (p.Leu337Phe) c.834A>T (p.Leu278Phe) n.988A>T c.1008A>T (p.Leu336Phe) | |
7 | g.42040055T>C | CA454533070 | GLI3 | c.1011A>G (p.Leu337=) c.834A>G (p.Leu278=) n.988A>G c.1008A>G (p.Leu336=) | |
7 | g.42040055T>G | CA367329203 | GLI3 | c.1011A>C (p.Leu337Phe) c.834A>C (p.Leu278Phe) n.988A>C c.1008A>C (p.Leu336Phe) | |
7 | g.42040056A>C | CA367329206 | GLI3 | c.1010T>G (p.Leu337Ter) c.833T>G (p.Leu278Ter) n.987T>G c.1007T>G (p.Leu336Ter) | |
7 | g.42040056A>G | CA367329208 | GLI3 | c.1010T>C (p.Leu337Ser) c.833T>C (p.Leu278Ser) n.987T>C c.1007T>C (p.Leu336Ser) | |
7 | g.42040056A>T | CA367329211 | GLI3 | c.1010T>A (p.Leu337Ter) c.833T>A (p.Leu278Ter) n.987T>A c.1007T>A (p.Leu336Ter) | |
7 | g.42040057A= | CA1702691060 | GLI3 | c.1009T= (p.Leu337=) c.832T= (p.Leu278=) n.986T= c.1006T= (p.Leu336=) | |
7 | g.42040057A>C | CA367329213 | GLI3 | c.1009T>G (p.Leu337Val) c.832T>G (p.Leu278Val) n.986T>G c.1006T>G (p.Leu336Val) | |
7 | g.42040057A>G | CA4231000 | GLI3 | c.1009T>C (p.Leu337=) c.832T>C (p.Leu278=) n.986T>C c.1006T>C (p.Leu336=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.42040057A>T | CA367329216 | GLI3 | c.1009T>A (p.Leu337Ile) c.832T>A (p.Leu278Ile) n.986T>A c.1006T>A (p.Leu336Ile) | |
7 | g.42040058G>A | CA454533087 | GLI3 | c.1008C>T (p.His336=) c.831C>T (p.His277=) n.985C>T c.1005C>T (p.His335=) | dbSNP |
7 | g.42040058G>C | CA367329219 | GLI3 | c.1008C>G (p.His336Gln) c.831C>G (p.His277Gln) n.985C>G c.1005C>G (p.His335Gln) | |
7 | g.42040058G= | CA1702691066 | GLI3 | c.1008C= (p.His336=) c.831C= (p.His277=) n.985C= c.1005C= (p.His335=) | |
7 | g.42040058G>T | CA367329221 | GLI3 | c.1008C>A (p.His336Gln) c.831C>A (p.His277Gln) n.985C>A c.1005C>A (p.His335Gln) | ClinVar dbSNP |
7 | g.42040059_42040060dup | CA2695207667 | GLI3 | c.1007_1008dup (p.Leu337ThrfsTer11) c.830_831dup (p.Leu278ThrfsTer11) n.984_985dup c.1004_1005dup (p.Leu336ThrfsTer11) | |
7 | g.42040059T>A | CA367329224 | GLI3 | c.1007A>T (p.His336Leu) c.830A>T (p.His277Leu) n.984A>T c.1004A>T (p.His335Leu) | |
7 | g.42040059T>C | CA367329227 | GLI3 | c.1007A>G (p.His336Arg) c.830A>G (p.His277Arg) n.984A>G c.1004A>G (p.His335Arg) | gnomAD v4 |
7 | g.42040059T>G | CA367329229 | GLI3 | c.1007A>C (p.His336Pro) c.830A>C (p.His277Pro) n.984A>C c.1004A>C (p.His335Pro) | |
7 | g.42040060G>A | CA367329234 | GLI3 | c.1006C>T (p.His336Tyr) c.829C>T (p.His277Tyr) n.983C>T c.1003C>T (p.His335Tyr) | |
7 | g.42040060G>C | CA367329235 | GLI3 | c.1006C>G (p.His336Asp) c.829C>G (p.His277Asp) n.983C>G c.1003C>G (p.His335Asp) | |
7 | g.42040060G>T | CA367329232 | GLI3 | c.1006C>A (p.His336Asn) c.829C>A (p.His277Asn) n.983C>A c.1003C>A (p.His335Asn) | gnomAD v4 |
7 | g.42040061A>C | CA454533115 | GLI3 | c.1005T>G (p.Gly335=) c.828T>G (p.Gly276=) n.982T>G c.1002T>G (p.Gly334=) | |
7 | g.42040061A>G | CA454533118 | GLI3 | c.1005T>C (p.Gly335=) c.828T>C (p.Gly276=) n.982T>C c.1002T>C (p.Gly334=) | |
7 | g.42040061A>T | CA454533121 | GLI3 | c.1005T>A (p.Gly335=) c.828T>A (p.Gly276=) n.982T>A c.1002T>A (p.Gly334=) | |
7 | g.42040062C>A | CA367329238 | GLI3 | c.1004G>T (p.Gly335Val) c.827G>T (p.Gly276Val) n.981G>T c.1001G>T (p.Gly334Val) | |
7 | g.42040062C>G | CA367329240 | GLI3 | c.1004G>C (p.Gly335Ala) c.827G>C (p.Gly276Ala) n.981G>C c.1001G>C (p.Gly334Ala) | |
7 | g.42040062C>T | CA367329242 | GLI3 | c.1004G>A (p.Gly335Asp) c.827G>A (p.Gly276Asp) n.981G>A c.1001G>A (p.Gly334Asp) | |
7 | g.42040063del | CA2682511708 | GLI3 | c.1004del (p.Gly335ValfsTer12) c.827del (p.Gly276ValfsTer12) n.981del c.1001del (p.Gly334ValfsTer12) | gnomAD v4 |
7 | g.42040063C>A | CA367329245 | GLI3 | c.1003G>T (p.Gly335Cys) c.826G>T (p.Gly276Cys) n.980G>T c.1000G>T (p.Gly334Cys) | |
7 | g.42040063C>G | CA367329247 | GLI3 | c.1003G>C (p.Gly335Arg) c.826G>C (p.Gly276Arg) n.980G>C c.1000G>C (p.Gly334Arg) | |
7 | g.42040063C>T | CA367329249 | GLI3 | c.1003G>A (p.Gly335Ser) c.826G>A (p.Gly276Ser) n.980G>A c.1000G>A (p.Gly334Ser) | |
7 | g.42040064A= | CA1702691078 | GLI3 | c.1002T= (p.Tyr334=) c.825T= (p.Tyr275=) n.979T= c.999T= (p.Tyr333=) | |
7 | g.42040064A>C | CA367329252 | GLI3 | c.1002T>G (p.Tyr334Ter) c.825T>G (p.Tyr275Ter) n.979T>G c.999T>G (p.Tyr333Ter) | |
7 | g.42040064A>G | CA4231001 | GLI3 | c.1002T>C (p.Tyr334=) c.825T>C (p.Tyr275=) n.979T>C c.999T>C (p.Tyr333=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040064A>T | CA367329256 | GLI3 | c.1002T>A (p.Tyr334Ter) c.825T>A (p.Tyr275Ter) n.979T>A c.999T>A (p.Tyr333Ter) | ClinVar dbSNP |
7 | g.42040065T>A | CA367329258 | GLI3 | c.1001A>T (p.Tyr334Phe) c.824A>T (p.Tyr275Phe) n.978A>T c.998A>T (p.Tyr333Phe) | |
7 | g.42040065T>C | CA4231002 | GLI3 | c.1001A>G (p.Tyr334Cys) c.824A>G (p.Tyr275Cys) n.978A>G c.998A>G (p.Tyr333Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040065T>G | CA367329262 | GLI3 | c.1001A>C (p.Tyr334Ser) c.824A>C (p.Tyr275Ser) n.978A>C c.998A>C (p.Tyr333Ser) | |
7 | g.42040065T= | CA1702691082 | GLI3 | c.1001A= (p.Tyr334=) c.824A= (p.Tyr275=) n.978A= c.998A= (p.Tyr333=) | |
7 | g.42040066A>C | CA367329269 | GLI3 | c.1000T>G (p.Tyr334Asp) c.823T>G (p.Tyr275Asp) n.977T>G c.997T>G (p.Tyr333Asp) | |
7 | g.42040066A>G | CA367329266 | GLI3 | c.1000T>C (p.Tyr334His) c.823T>C (p.Tyr275His) n.977T>C c.997T>C (p.Tyr333His) | |
7 | g.42040066A>T | CA367329268 | GLI3 | c.1000T>A (p.Tyr334Asn) c.823T>A (p.Tyr275Asn) n.977T>A c.997T>A (p.Tyr333Asn) | |
7 | g.42040067G>A | CA4231003 | GLI3 | c.999C>T (p.Ser333=) c.822C>T (p.Ser274=) n.976C>T c.996C>T (p.Ser332=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040067G>C | CA454533164 | GLI3 | c.999C>G (p.Ser333=) c.822C>G (p.Ser274=) n.976C>G c.996C>G (p.Ser332=) | |
7 | g.42040067G= | CA1702691088 | GLI3 | c.999C= (p.Ser333=) c.822C= (p.Ser274=) n.976C= c.996C= (p.Ser332=) | |
7 | g.42040067G>T | CA454533169 | GLI3 | c.999C>A (p.Ser333=) c.822C>A (p.Ser274=) n.976C>A c.996C>A (p.Ser332=) | |
7 | g.42040068G>A | CA367329279 | GLI3 | c.998C>T (p.Ser333Phe) c.821C>T (p.Ser274Phe) n.975C>T c.995C>T (p.Ser332Phe) | |
7 | g.42040068G>C | CA367329282 | GLI3 | c.998C>G (p.Ser333Cys) c.821C>G (p.Ser274Cys) n.975C>G c.995C>G (p.Ser332Cys) | |
7 | g.42040068G>T | CA367329283 | GLI3 | c.998C>A (p.Ser333Tyr) c.821C>A (p.Ser274Tyr) n.975C>A c.995C>A (p.Ser332Tyr) | |
7 | g.42040069_42040070dup | CA2695207668 | GLI3 | c.997_998dup (p.Tyr334ProfsTer14) c.820_821dup (p.Tyr275ProfsTer14) n.974_975dup c.994_995dup (p.Tyr333ProfsTer14) | |
7 | g.42040069A>C | CA367329286 | GLI3 | c.997T>G (p.Ser333Ala) c.820T>G (p.Ser274Ala) n.974T>G c.994T>G (p.Ser332Ala) | |
7 | g.42040069A>G | CA367329288 | GLI3 | c.997T>C (p.Ser333Pro) c.820T>C (p.Ser274Pro) n.974T>C c.994T>C (p.Ser332Pro) | |
7 | g.42040069A>T | CA367329290 | GLI3 | c.997T>A (p.Ser333Thr) c.820T>A (p.Ser274Thr) n.974T>A c.994T>A (p.Ser332Thr) | |
7 | g.42040070G>A | CA454533188 | GLI3 | c.996C>T (p.Gly332=) c.819C>T (p.Gly273=) n.973C>T c.993C>T (p.Gly331=) | gnomAD v4 |
7 | g.42040070G>C | CA454533191 | GLI3 | c.996C>G (p.Gly332=) c.819C>G (p.Gly273=) n.973C>G c.993C>G (p.Gly331=) | |
7 | g.42040070G>T | CA454533193 | GLI3 | c.996C>A (p.Gly332=) c.819C>A (p.Gly273=) n.973C>A c.993C>A (p.Gly331=) | |
7 | g.42040071C>A | CA367329292 | GLI3 | c.995G>T (p.Gly332Val) c.818G>T (p.Gly273Val) n.972G>T c.992G>T (p.Gly331Val) | COSMIC |
7 | g.42040071C>G | CA367329295 | GLI3 | c.995G>C (p.Gly332Ala) c.818G>C (p.Gly273Ala) n.972G>C c.992G>C (p.Gly331Ala) | gnomAD v4 |
7 | g.42040071C>T | CA367329297 | GLI3 | c.995G>A (p.Gly332Asp) c.818G>A (p.Gly273Asp) n.972G>A c.992G>A (p.Gly331Asp) | |
7 | g.42040072C>A | CA367329308 | GLI3 | c.994G>T (p.Gly332Cys) c.817G>T (p.Gly273Cys) n.971G>T c.991G>T (p.Gly331Cys) | |
7 | g.42040072C>G | CA367329306 | GLI3 | c.994G>C (p.Gly332Arg) c.817G>C (p.Gly273Arg) n.971G>C c.991G>C (p.Gly331Arg) | COSMIC |
7 | g.42040072C>T | CA367329300 | GLI3 | c.994G>A (p.Gly332Ser) c.817G>A (p.Gly273Ser) n.971G>A c.991G>A (p.Gly331Ser) | COSMIC |
7 | g.42040073A>C | CA367329311 | GLI3 | c.993T>G (p.Ser331Arg) c.816T>G (p.Ser272Arg) n.970T>G c.990T>G (p.Ser330Arg) | |
7 | g.42040073A>G | CA454533216 | GLI3 | c.993T>C (p.Ser331=) c.816T>C (p.Ser272=) n.970T>C c.990T>C (p.Ser330=) | |
7 | g.42040073A>T | CA367329312 | GLI3 | c.993T>A (p.Ser331Arg) c.816T>A (p.Ser272Arg) n.970T>A c.990T>A (p.Ser330Arg) | |
7 | g.42040074C>A | CA367329316 | GLI3 | c.992G>T (p.Ser331Ile) c.815G>T (p.Ser272Ile) n.969G>T c.989G>T (p.Ser330Ile) | |
7 | g.42040074C= | CA1702691097 | GLI3 | c.992G= (p.Ser331=) c.815G= (p.Ser272=) n.969G= c.989G= (p.Ser330=) | |
7 | g.42040074C>G | CA367329318 | GLI3 | c.992G>C (p.Ser331Thr) c.815G>C (p.Ser272Thr) n.969G>C c.989G>C (p.Ser330Thr) | |
7 | g.42040074C>T | CA4231004 | GLI3 | c.992G>A (p.Ser331Asn) c.815G>A (p.Ser272Asn) n.969G>A c.989G>A (p.Ser330Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040075T>A | CA367329322 | GLI3 | c.991A>T (p.Ser331Cys) c.814A>T (p.Ser272Cys) n.968A>T c.988A>T (p.Ser330Cys) | |
7 | g.42040075T>C | CA4231005 | GLI3 | c.991A>G (p.Ser331Gly) c.814A>G (p.Ser272Gly) n.968A>G c.988A>G (p.Ser330Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040075T>G | CA367329326 | GLI3 | c.991A>C (p.Ser331Arg) c.814A>C (p.Ser272Arg) n.968A>C c.988A>C (p.Ser330Arg) | |
7 | g.42040075T= | CA1702691102 | GLI3 | c.991A= (p.Ser331=) c.814A= (p.Ser272=) n.968A= c.988A= (p.Ser330=) | |
7 | g.42040076T>A | CA454533240 | GLI3 | c.990A>T (p.Ala330=) c.813A>T (p.Ala271=) n.967A>T c.987A>T (p.Ala329=) | |
7 | g.42040076T>C | CA454533242 | GLI3 | c.990A>G (p.Ala330=) c.813A>G (p.Ala271=) n.967A>G c.987A>G (p.Ala329=) | |
7 | g.42040076T>G | CA454533246 | GLI3 | c.990A>C (p.Ala330=) c.813A>C (p.Ala271=) n.967A>C c.987A>C (p.Ala329=) | |
7 | g.42040077G>A | CA367329328 | GLI3 | c.989C>T (p.Ala330Val) c.812C>T (p.Ala271Val) n.966C>T c.986C>T (p.Ala329Val) | |
7 | g.42040077G>C | CA367329329 | GLI3 | c.989C>G (p.Ala330Gly) c.812C>G (p.Ala271Gly) n.966C>G c.986C>G (p.Ala329Gly) | |
7 | g.42040077G>T | CA367329334 | GLI3 | c.989C>A (p.Ala330Glu) c.812C>A (p.Ala271Glu) n.966C>A c.986C>A (p.Ala329Glu) | |
7 | g.42040078C>A | CA367329337 | GLI3 | c.988G>T (p.Ala330Ser) c.811G>T (p.Ala271Ser) n.965G>T c.985G>T (p.Ala329Ser) | |
7 | g.42040078C>G | CA367329338 | GLI3 | c.988G>C (p.Ala330Pro) c.811G>C (p.Ala271Pro) n.965G>C c.985G>C (p.Ala329Pro) | |
7 | g.42040078C>T | CA367329339 | GLI3 | c.988G>A (p.Ala330Thr) c.811G>A (p.Ala271Thr) n.965G>A c.985G>A (p.Ala329Thr) | |
7 | g.42040079T>A | CA454533266 | GLI3 | c.987A>T (p.Ser329=) c.810A>T (p.Ser270=) n.964A>T c.984A>T (p.Ser328=) | |
7 | g.42040079T>C | CA454533272 | GLI3 | c.987A>G (p.Ser329=) c.810A>G (p.Ser270=) n.964A>G c.984A>G (p.Ser328=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42040079T>G | CA454533269 | GLI3 | c.987A>C (p.Ser329=) c.810A>C (p.Ser270=) n.964A>C c.984A>C (p.Ser328=) | gnomAD v4 |
7 | g.42040079T= | CA1702691106 | GLI3 | c.987A= (p.Ser329=) c.810A= (p.Ser270=) n.964A= c.984A= (p.Ser328=) | |
7 | g.42040080G>A | CA367329342 | GLI3 | c.986C>T (p.Ser329Leu) c.809C>T (p.Ser270Leu) n.963C>T c.983C>T (p.Ser328Leu) | |
7 | g.42040080G>C | CA367329340 | GLI3 | c.986C>G (p.Ser329Ter) c.809C>G (p.Ser270Ter) n.963C>G c.983C>G (p.Ser328Ter) | |
7 | g.42040080G>T | CA367329341 | GLI3 | c.986C>A (p.Ser329Ter) c.809C>A (p.Ser270Ter) n.963C>A c.983C>A (p.Ser328Ter) | COSMIC |
7 | g.42040081A>C | CA367329344 | GLI3 | c.985T>G (p.Ser329Ala) c.808T>G (p.Ser270Ala) n.962T>G c.982T>G (p.Ser328Ala) | |
7 | g.42040081A>G | CA367329346 | GLI3 | c.985T>C (p.Ser329Pro) c.808T>C (p.Ser270Pro) n.962T>C c.982T>C (p.Ser328Pro) | |
7 | g.42040081A>T | CA367329348 | GLI3 | c.985T>A (p.Ser329Thr) c.808T>A (p.Ser270Thr) n.962T>A c.982T>A (p.Ser328Thr) | |
7 | g.42040082A= | CA1702691109 | GLI3 | c.984T= (p.Ser328=) c.807T= (p.Ser269=) n.961T= c.981T= (p.Ser327=) | |
7 | g.42040082A>C | CA454533292 | GLI3 | c.984T>G (p.Ser328=) c.807T>G (p.Ser269=) n.961T>G c.981T>G (p.Ser327=) | gnomAD v4 |
7 | g.42040082A>G | CA454533296 | GLI3 | c.984T>C (p.Ser328=) c.807T>C (p.Ser269=) n.961T>C c.981T>C (p.Ser327=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42040082A>T | CA454533299 | GLI3 | c.984T>A (p.Ser328=) c.807T>A (p.Ser269=) n.961T>A c.981T>A (p.Ser327=) | |
7 | g.42040083G>A | CA367329352 | GLI3 | c.983C>T (p.Ser328Phe) c.806C>T (p.Ser269Phe) n.960C>T c.980C>T (p.Ser327Phe) | |
7 | g.42040083G>C | CA367329353 | GLI3 | c.983C>G (p.Ser328Cys) c.806C>G (p.Ser269Cys) n.960C>G c.980C>G (p.Ser327Cys) | |
7 | g.42040083G>T | CA367329356 | GLI3 | c.983C>A (p.Ser328Tyr) c.806C>A (p.Ser269Tyr) n.960C>A c.980C>A (p.Ser327Tyr) | |
7 | g.42040084A>C | CA367329358 | GLI3 | c.982T>G (p.Ser328Ala) c.805T>G (p.Ser269Ala) n.959T>G c.979T>G (p.Ser327Ala) | |
7 | g.42040084A>G | CA367329359 | GLI3 | c.982T>C (p.Ser328Pro) c.805T>C (p.Ser269Pro) n.959T>C c.979T>C (p.Ser327Pro) | |
7 | g.42040084A>T | CA367329360 | GLI3 | c.982T>A (p.Ser328Thr) c.805T>A (p.Ser269Thr) n.959T>A c.979T>A (p.Ser327Thr) | |
7 | g.42040085G>A | CA454533316 | GLI3 | c.981C>T (p.Ser327=) c.804C>T (p.Ser268=) n.958C>T c.978C>T (p.Ser326=) | dbSNP |
7 | g.42040085G>C | CA367329363 | GLI3 | c.981C>G (p.Ser327Arg) c.804C>G (p.Ser268Arg) n.958C>G c.978C>G (p.Ser326Arg) | |
7 | g.42040085G= | CA1702691112 | GLI3 | c.981C= (p.Ser327=) c.804C= (p.Ser268=) n.958C= c.978C= (p.Ser326=) | |
7 | g.42040085G>T | CA367329375 | GLI3 | c.981C>A (p.Ser327Arg) c.804C>A (p.Ser268Arg) n.958C>A c.978C>A (p.Ser326Arg) | |
7 | g.42040086C>A | CA367329390 | GLI3 | c.980G>T (p.Ser327Ile) c.803G>T (p.Ser268Ile) n.957G>T c.977G>T (p.Ser326Ile) | |
7 | g.42040086C>G | CA367329386 | GLI3 | c.980G>C (p.Ser327Thr) c.803G>C (p.Ser268Thr) n.957G>C c.977G>C (p.Ser326Thr) | |
7 | g.42040086C>T | CA367329383 | GLI3 | c.980G>A (p.Ser327Asn) c.803G>A (p.Ser268Asn) n.957G>A c.977G>A (p.Ser326Asn) | |
7 | g.42040087T>A | CA367329394 | GLI3 | c.979A>T (p.Ser327Cys) c.802A>T (p.Ser268Cys) n.956A>T c.976A>T (p.Ser326Cys) | |
7 | g.42040087T>C | CA367329396 | GLI3 | c.979A>G (p.Ser327Gly) c.802A>G (p.Ser268Gly) n.956A>G c.976A>G (p.Ser326Gly) | |
7 | g.42040087T>G | CA367329398 | GLI3 | c.979A>C (p.Ser327Arg) c.802A>C (p.Ser268Arg) n.956A>C c.976A>C (p.Ser326Arg) | |
7 | g.42040088G>A | CA454533343 | GLI3 | c.978C>T (p.Ser326=) c.801C>T (p.Ser267=) n.955C>T c.975C>T (p.Ser325=) | |
7 | g.42040088G>C | CA367329401 | GLI3 | c.978C>G (p.Ser326Arg) c.801C>G (p.Ser267Arg) n.955C>G c.975C>G (p.Ser325Arg) | |
7 | g.42040088G>T | CA367329405 | GLI3 | c.978C>A (p.Ser326Arg) c.801C>A (p.Ser267Arg) n.955C>A c.975C>A (p.Ser325Arg) | |
7 | g.42040089C>A | CA367329411 | GLI3 | c.977G>T (p.Ser326Ile) c.800G>T (p.Ser267Ile) n.954G>T c.974G>T (p.Ser325Ile) | |
7 | g.42040089C= | CA1702691115 | GLI3 | c.977G= (p.Ser326=) c.800G= (p.Ser267=) n.954G= c.974G= (p.Ser325=) | |
7 | g.42040089C>G | CA367329409 | GLI3 | c.977G>C (p.Ser326Thr) c.800G>C (p.Ser267Thr) n.954G>C c.974G>C (p.Ser325Thr) | |
7 | g.42040089C>T | CA4231006 | GLI3 | c.977G>A (p.Ser326Asn) c.800G>A (p.Ser267Asn) n.954G>A c.974G>A (p.Ser325Asn) | dbSNP ExAC gnomAD v4 |
7 | g.42040090T>A | CA367329414 | GLI3 | c.976A>T (p.Ser326Cys) c.799A>T (p.Ser267Cys) n.953A>T c.973A>T (p.Ser325Cys) | |
7 | g.42040090T>C | CA367329416 | GLI3 | c.976A>G (p.Ser326Gly) c.799A>G (p.Ser267Gly) n.953A>G c.973A>G (p.Ser325Gly) | gnomAD v4 |
7 | g.42040090T>G | CA367329418 | GLI3 | c.976A>C (p.Ser326Arg) c.799A>C (p.Ser267Arg) n.953A>C c.973A>C (p.Ser325Arg) | |
7 | g.42040091A>C | CA454533364 | GLI3 | c.975T>G (p.Arg325=) c.798T>G (p.Arg266=) n.952T>G c.972T>G (p.Arg324=) | |
7 | g.42040091A>G | CA454533366 | GLI3 | c.975T>C (p.Arg325=) c.798T>C (p.Arg266=) n.952T>C c.972T>C (p.Arg324=) | |
7 | g.42040091A>T | CA454533369 | GLI3 | c.975T>A (p.Arg325=) c.798T>A (p.Arg266=) n.952T>A c.972T>A (p.Arg324=) | |
7 | g.42040092C>A | CA367329421 | GLI3 | c.974G>T (p.Arg325Leu) c.797G>T (p.Arg266Leu) n.951G>T c.971G>T (p.Arg324Leu) | |
7 | g.42040092C= | CA1702691120 | GLI3 | c.974G= (p.Arg325=) c.797G= (p.Arg266=) n.951G= c.971G= (p.Arg324=) | |
7 | g.42040092C>G | CA367329423 | GLI3 | c.974G>C (p.Arg325Pro) c.797G>C (p.Arg266Pro) n.951G>C c.971G>C (p.Arg324Pro) | gnomAD v4 |
7 | g.42040092C>T | CA4231007 | GLI3 | c.974G>A (p.Arg325His) c.797G>A (p.Arg266His) n.951G>A c.971G>A (p.Arg324His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040093G>A | CA156907358 | GLI3 | c.973C>T (p.Arg325Cys) c.796C>T (p.Arg266Cys) n.950C>T c.970C>T (p.Arg324Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040093G>C | CA367329431 | GLI3 | c.973C>G (p.Arg325Gly) c.796C>G (p.Arg266Gly) n.950C>G c.970C>G (p.Arg324Gly) | |
7 | g.42040093G= | CA1702691124 | GLI3 | c.973C= (p.Arg325=) c.796C= (p.Arg266=) n.950C= c.970C= (p.Arg324=) | |
7 | g.42040093G>T | CA367329429 | GLI3 | c.973C>A (p.Arg325Ser) c.796C>A (p.Arg266Ser) n.950C>A c.970C>A (p.Arg324Ser) | dbSNP COSMIC |
7 | g.42040094G>A | CA454533382 | GLI3 | c.972C>T (p.Ser324=) c.795C>T (p.Ser265=) n.949C>T c.969C>T (p.Ser323=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.42040094G>C | CA454533379 | GLI3 | c.972C>G (p.Ser324=) c.795C>G (p.Ser265=) n.949C>G c.969C>G (p.Ser323=) | |
7 | g.42040094G= | CA1702691130 | GLI3 | c.972C= (p.Ser324=) c.795C= (p.Ser265=) n.949C= c.969C= (p.Ser323=) | |
7 | g.42040094G>T | CA454533380 | GLI3 | c.972C>A (p.Ser324=) c.795C>A (p.Ser265=) n.949C>A c.969C>A (p.Ser323=) | |
7 | g.42040095G>A | CA367329434 | GLI3 | c.971C>T (p.Ser324Phe) c.794C>T (p.Ser265Phe) n.948C>T c.968C>T (p.Ser323Phe) | gnomAD v4 COSMIC |
7 | g.42040095G>C | CA367329436 | GLI3 | c.971C>G (p.Ser324Cys) c.794C>G (p.Ser265Cys) n.948C>G c.968C>G (p.Ser323Cys) | |
7 | g.42040095G>T | CA367329438 | GLI3 | c.971C>A (p.Ser324Tyr) c.794C>A (p.Ser265Tyr) n.948C>A c.968C>A (p.Ser323Tyr) | |
7 | g.42040096A>C | CA367329441 | GLI3 | c.970T>G (p.Ser324Ala) c.793T>G (p.Ser265Ala) n.947T>G c.967T>G (p.Ser323Ala) | |
7 | g.42040096A>G | CA367329443 | GLI3 | c.970T>C (p.Ser324Pro) c.793T>C (p.Ser265Pro) n.947T>C c.967T>C (p.Ser323Pro) | |
7 | g.42040096A>T | CA367329445 | GLI3 | c.970T>A (p.Ser324Thr) c.793T>A (p.Ser265Thr) n.947T>A c.967T>A (p.Ser323Thr) | |
7 | g.42040097A>C | CA367329448 | GLI3 | c.969T>G (p.Asn323Lys) c.792T>G (p.Asn264Lys) n.946T>G c.966T>G (p.Asn322Lys) | |
7 | g.42040097A>G | CA454533392 | GLI3 | c.969T>C (p.Asn323=) c.792T>C (p.Asn264=) n.946T>C c.966T>C (p.Asn322=) | gnomAD v4 |
7 | g.42040097A>T | CA367329451 | GLI3 | c.969T>A (p.Asn323Lys) c.792T>A (p.Asn264Lys) n.946T>A c.966T>A (p.Asn322Lys) | |
7 | g.42040098T>A | CA367329454 | GLI3 | c.968A>T (p.Asn323Ile) c.791A>T (p.Asn264Ile) n.945A>T c.965A>T (p.Asn322Ile) | |
7 | g.42040098T>C | CA367329456 | GLI3 | c.968A>G (p.Asn323Ser) c.791A>G (p.Asn264Ser) n.945A>G c.965A>G (p.Asn322Ser) | |
7 | g.42040098T>G | CA367329458 | GLI3 | c.968A>C (p.Asn323Thr) c.791A>C (p.Asn264Thr) n.945A>C c.965A>C (p.Asn322Thr) | |
7 | g.42040099T>A | CA367329464 | GLI3 | c.967A>T (p.Asn323Tyr) c.790A>T (p.Asn264Tyr) n.944A>T c.964A>T (p.Asn322Tyr) | |
7 | g.42040099T>C | CA367329467 | GLI3 | c.967A>G (p.Asn323Asp) c.790A>G (p.Asn264Asp) n.944A>G c.964A>G (p.Asn322Asp) | |
7 | g.42040099T>G | CA367329462 | GLI3 | c.967A>C (p.Asn323His) c.790A>C (p.Asn264His) n.944A>C c.964A>C (p.Asn322His) | |
7 | g.42040100A>C | CA367329472 | GLI3 | c.966T>G (p.Asn322Lys) c.789T>G (p.Asn263Lys) n.943T>G c.963T>G (p.Asn321Lys) | |
7 | g.42040100A>G | CA454533401 | GLI3 | c.966T>C (p.Asn322=) c.789T>C (p.Asn263=) n.943T>C c.963T>C (p.Asn321=) | |
7 | g.42040100A>T | CA367329470 | GLI3 | c.966T>A (p.Asn322Lys) c.789T>A (p.Asn263Lys) n.943T>A c.963T>A (p.Asn321Lys) | |
7 | g.42040101T>A | CA367329475 | GLI3 | c.965A>T (p.Asn322Ile) c.788A>T (p.Asn263Ile) n.942A>T c.962A>T (p.Asn321Ile) | |
7 | g.42040101T>C | CA4231008 | GLI3 | c.965A>G (p.Asn322Ser) c.788A>G (p.Asn263Ser) n.942A>G c.962A>G (p.Asn321Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040101T>G | CA367329479 | GLI3 | c.965A>C (p.Asn322Thr) c.788A>C (p.Asn263Thr) n.942A>C c.962A>C (p.Asn321Thr) | |
7 | g.42040101T= | CA1702691134 | GLI3 | c.965A= (p.Asn322=) c.788A= (p.Asn263=) n.942A= c.962A= (p.Asn321=) | |
7 | g.42040102T>A | CA367329481 | GLI3 | c.964A>T (p.Asn322Tyr) c.787A>T (p.Asn263Tyr) n.941A>T c.961A>T (p.Asn321Tyr) | gnomAD v4 |
7 | g.42040102T>C | CA367329485 | GLI3 | c.964A>G (p.Asn322Asp) c.787A>G (p.Asn263Asp) n.941A>G c.961A>G (p.Asn321Asp) | |
7 | g.42040102T>G | CA367329488 | GLI3 | c.964A>C (p.Asn322His) c.787A>C (p.Asn263His) n.941A>C c.961A>C (p.Asn321His) | dbSNP gnomAD v4 |
7 | g.42040102T= | CA1702691138 | GLI3 | c.964A= (p.Asn322=) c.787A= (p.Asn263=) n.941A= c.961A= (p.Asn321=) | |
7 | g.42040103G>A | CA4231009 | GLI3 | c.963C>T (p.Leu321=) c.786C>T (p.Leu262=) n.940C>T c.960C>T (p.Leu320=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040103G>C | CA454533413 | GLI3 | c.963C>G (p.Leu321=) c.786C>G (p.Leu262=) n.940C>G c.960C>G (p.Leu320=) | |
7 | g.42040103G= | CA1702691146 | GLI3 | c.963C= (p.Leu321=) c.786C= (p.Leu262=) n.940C= c.960C= (p.Leu320=) | |
7 | g.42040103G>T | CA454533415 | GLI3 | c.963C>A (p.Leu321=) c.786C>A (p.Leu262=) n.940C>A c.960C>A (p.Leu320=) | |
7 | g.42040104A>C | CA367329493 | GLI3 | c.962T>G (p.Leu321Arg) c.785T>G (p.Leu262Arg) n.939T>G c.959T>G (p.Leu320Arg) | |
7 | g.42040104A>G | CA367329498 | GLI3 | c.962T>C (p.Leu321Pro) c.785T>C (p.Leu262Pro) n.939T>C c.959T>C (p.Leu320Pro) | |
7 | g.42040104A>T | CA367329495 | GLI3 | c.962T>A (p.Leu321His) c.785T>A (p.Leu262His) n.939T>A c.959T>A (p.Leu320His) | |
7 | g.42040105G>A | CA4231010 | GLI3 | c.961C>T (p.Leu321Phe) c.784C>T (p.Leu262Phe) n.938C>T c.958C>T (p.Leu320Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040105G>C | CA367329502 | GLI3 | c.961C>G (p.Leu321Val) c.784C>G (p.Leu262Val) n.938C>G c.958C>G (p.Leu320Val) | gnomAD v4 |
7 | g.42040105G= | CA1702691156 | GLI3 | c.961C= (p.Leu321=) c.784C= (p.Leu262=) n.938C= c.958C= (p.Leu320=) | |
7 | g.42040105G>T | CA367329503 | GLI3 | c.961C>A (p.Leu321Ile) c.784C>A (p.Leu262Ile) n.938C>A c.958C>A (p.Leu320Ile) | |
7 | g.42040106A>C | CA367329507 | GLI3 | c.960T>G (p.Ile320Met) c.783T>G (p.Ile261Met) n.937T>G c.957T>G (p.Ile319Met) | |
7 | g.42040106A>G | CA454533424 | GLI3 | c.960T>C (p.Ile320=) c.783T>C (p.Ile261=) n.937T>C c.957T>C (p.Ile319=) | |
7 | g.42040106A>T | CA454533427 | GLI3 | c.960T>A (p.Ile320=) c.783T>A (p.Ile261=) n.937T>A c.957T>A (p.Ile319=) | |
7 | g.42040107A= | CA1702691159 | GLI3 | c.959T= (p.Ile320=) c.782T= (p.Ile261=) n.936T= c.956T= (p.Ile319=) | |
7 | g.42040107A>C | CA367329511 | GLI3 | c.959T>G (p.Ile320Ser) c.782T>G (p.Ile261Ser) n.936T>G c.956T>G (p.Ile319Ser) | |
7 | g.42040107A>G | CA367329515 | GLI3 | c.959T>C (p.Ile320Thr) c.782T>C (p.Ile261Thr) n.936T>C c.956T>C (p.Ile319Thr) | dbSNP |
7 | g.42040107A>T | CA367329513 | GLI3 | c.959T>A (p.Ile320Asn) c.782T>A (p.Ile261Asn) n.936T>A c.956T>A (p.Ile319Asn) | |
7 | g.42040108T>A | CA367329518 | GLI3 | c.958A>T (p.Ile320Phe) c.781A>T (p.Ile261Phe) n.935A>T c.955A>T (p.Ile319Phe) | |
7 | g.42040108T>C | CA367329520 | GLI3 | c.958A>G (p.Ile320Val) c.781A>G (p.Ile261Val) n.935A>G c.955A>G (p.Ile319Val) | |
7 | g.42040108T>G | CA367329523 | GLI3 | c.958A>C (p.Ile320Leu) c.781A>C (p.Ile261Leu) n.935A>C c.955A>C (p.Ile319Leu) | |
7 | g.42040109C>A | CA454533434 | GLI3 | c.957G>T (p.Thr319=) c.780G>T (p.Thr260=) n.934G>T c.954G>T (p.Thr318=) | |
7 | g.42040109C= | CA1702691164 | GLI3 | c.957G= (p.Thr319=) c.780G= (p.Thr260=) n.934G= c.954G= (p.Thr318=) | |
7 | g.42040109C>G | CA454533435 | GLI3 | c.957G>C (p.Thr319=) c.780G>C (p.Thr260=) n.934G>C c.954G>C (p.Thr318=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42040109C>T | CA4231011 | GLI3 | c.957G>A (p.Thr319=) c.780G>A (p.Thr260=) n.934G>A c.954G>A (p.Thr318=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040110G>A | CA4231012 | GLI3 | c.956C>T (p.Thr319Met) c.779C>T (p.Thr260Met) n.933C>T c.953C>T (p.Thr318Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040110G>C | CA367329525 | GLI3 | c.956C>G (p.Thr319Arg) c.779C>G (p.Thr260Arg) n.933C>G c.953C>G (p.Thr318Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040110G= | CA1702691172 | GLI3 | c.956C= (p.Thr319=) c.779C= (p.Thr260=) n.933C= c.953C= (p.Thr318=) | |
7 | g.42040110G>T | CA367329528 | GLI3 | c.956C>A (p.Thr319Lys) c.779C>A (p.Thr260Lys) n.933C>A c.953C>A (p.Thr318Lys) | dbSNP |
7 | g.42040111T>A | CA367329530 | GLI3 | c.955A>T (p.Thr319Ser) c.778A>T (p.Thr260Ser) n.932A>T c.952A>T (p.Thr318Ser) | |
7 | g.42040111T>C | CA367329532 | GLI3 | c.955A>G (p.Thr319Ala) c.778A>G (p.Thr260Ala) n.932A>G c.952A>G (p.Thr318Ala) | |
7 | g.42040111T>G | CA367329534 | GLI3 | c.955A>C (p.Thr319Pro) c.778A>C (p.Thr260Pro) n.932A>C c.952A>C (p.Thr318Pro) | |
7 | g.42040112G>A | CA4231013 | GLI3 | c.954C>T (p.Val318=) c.777C>T (p.Val259=) n.931C>T c.951C>T (p.Val317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040112G>C | CA454533447 | GLI3 | c.954C>G (p.Val318=) c.777C>G (p.Val259=) n.931C>G c.951C>G (p.Val317=) | |
7 | g.42040112G= | CA1702691179 | GLI3 | c.954C= (p.Val318=) c.777C= (p.Val259=) n.931C= c.951C= (p.Val317=) | |
7 | g.42040112G>T | CA454533449 | GLI3 | c.954C>A (p.Val318=) c.777C>A (p.Val259=) n.931C>A c.951C>A (p.Val317=) | |
7 | g.42040113A>C | CA367329539 | GLI3 | c.953T>G (p.Val318Gly) c.776T>G (p.Val259Gly) n.930T>G c.950T>G (p.Val317Gly) | |
7 | g.42040113A>G | CA367329545 | GLI3 | c.953T>C (p.Val318Ala) c.776T>C (p.Val259Ala) n.930T>C c.950T>C (p.Val317Ala) | |
7 | g.42040113A>T | CA367329542 | GLI3 | c.953T>A (p.Val318Asp) c.776T>A (p.Val259Asp) n.930T>A c.950T>A (p.Val317Asp) | |
7 | g.42040114C>A | CA367329548 | GLI3 | c.952G>T (p.Val318Phe) c.775G>T (p.Val259Phe) n.929G>T c.949G>T (p.Val317Phe) | |
7 | g.42040114C>G | CA367329549 | GLI3 | c.952G>C (p.Val318Leu) c.775G>C (p.Val259Leu) n.929G>C c.949G>C (p.Val317Leu) | |
7 | g.42040114C>T | CA367329551 | GLI3 | c.952G>A (p.Val318Ile) c.775G>A (p.Val259Ile) n.929G>A c.949G>A (p.Val317Ile) | |
7 | g.42040115C>A | CA367329555 | GLI3 | c.951G>T (p.Leu317Phe) c.774G>T (p.Leu258Phe) n.928G>T c.948G>T (p.Leu316Phe) | |
7 | g.42040115C>G | CA367329557 | GLI3 | c.951G>C (p.Leu317Phe) c.774G>C (p.Leu258Phe) n.928G>C c.948G>C (p.Leu316Phe) | |
7 | g.42040115C>T | CA454533458 | GLI3 | c.951G>A (p.Leu317=) c.774G>A (p.Leu258=) n.928G>A c.948G>A (p.Leu316=) | |
7 | g.42040116A>C | CA367329560 | GLI3 | c.950T>G (p.Leu317Trp) c.773T>G (p.Leu258Trp) n.927T>G c.947T>G (p.Leu316Trp) | gnomAD v4 |
7 | g.42040116A>G | CA367329563 | GLI3 | c.950T>C (p.Leu317Ser) c.773T>C (p.Leu258Ser) n.927T>C c.947T>C (p.Leu316Ser) | |
7 | g.42040116A>T | CA367329565 | GLI3 | c.950T>A (p.Leu317Ter) c.773T>A (p.Leu258Ter) n.927T>A c.947T>A (p.Leu316Ter) | |
7 | g.42040117A>C | CA367329568 | GLI3 | c.949T>G (p.Leu317Val) c.772T>G (p.Leu258Val) n.926T>G c.946T>G (p.Leu316Val) | |
7 | g.42040117A>G | CA454533466 | GLI3 | c.949T>C (p.Leu317=) c.772T>C (p.Leu258=) n.926T>C c.946T>C (p.Leu316=) | |
7 | g.42040117A>T | CA367329570 | GLI3 | c.949T>A (p.Leu317Met) c.772T>A (p.Leu258Met) n.926T>A c.946T>A (p.Leu316Met) |