Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.73196735G>A | CA400884072 | COG1 | c.544G>A (p.Ala182Thr) c.542G>A c.541G>A | gnomAD v4 |
17 | g.73196735G>C | CA400884075 | COG1 | c.544G>C (p.Ala182Pro) c.542G>C c.541G>C | gnomAD v2 gnomAD v4 |
17 | g.73196735G= | CA2274432029 | COG1 | c.544G= (p.Ala182=) c.542G= c.541G= | |
17 | g.73196735G>T | CA400884078 | COG1 | c.544G>T (p.Ala182Ser) c.542G>T c.541G>T | gnomAD v4 |
17 | g.73196736C>A | CA400884079 | COG1 | c.545C>A (p.Ala182Asp) c.543C>A c.542C>A | |
17 | g.73196736C>G | CA400884080 | COG1 | c.545C>G (p.Ala182Gly) c.543C>G c.542C>G | gnomAD v4 |
17 | g.73196736C>T | CA400884084 | COG1 | c.545C>T (p.Ala182Val) c.543C>T c.542C>T | gnomAD v4 |
17 | g.73196737dup | CA8739986 | COG1 | c.546dup (p.Ala183ArgfsTer11) c.544dup c.543dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196737C>A | CA502026250 | COG1 | c.546C>A (p.Ala182=) c.544C>A c.543C>A | |
17 | g.73196737C= | CA2274432030 | COG1 | c.546C= (p.Ala182=) c.544C= c.543C= | |
17 | g.73196737C>G | CA502026249 | COG1 | c.546C>G (p.Ala182=) c.544C>G c.543C>G | |
17 | g.73196737C>T | CA8739987 | COG1 | c.546C>T (p.Ala182=) c.544C>T c.543C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196738G>A | CA8739989 | COG1 | c.547G>A (p.Ala183Thr) c.545G>A c.544G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196738G>C | CA8739988 | COG1 | c.547G>C (p.Ala183Pro) c.545G>C c.544G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196738G= | CA2274432031 | COG1 | c.547G= (p.Ala183=) c.545G= c.544G= | |
17 | g.73196738G>T | CA400884103 | COG1 | c.547G>T (p.Ala183Ser) c.545G>T c.544G>T | |
17 | g.73196739C>A | CA400884108 | COG1 | c.548C>A (p.Ala183Asp) c.546C>A c.545C>A | |
17 | g.73196739C= | CA2274432032 | COG1 | c.548C= (p.Ala183=) c.546C= c.545C= | |
17 | g.73196739C>G | CA400884112 | COG1 | c.548C>G (p.Ala183Gly) c.546C>G c.545C>G | |
17 | g.73196739C>T | CA293799541 | COG1 | c.548C>T (p.Ala183Val) c.546C>T c.545C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196740C>A | CA502026255 | COG1 | c.549C>A (p.Ala183=) c.547C>A c.546C>A | |
17 | g.73196740C= | CA2274432033 | COG1 | c.549C= (p.Ala183=) c.547C= c.546C= | |
17 | g.73196740C>G | CA502026254 | COG1 | c.549C>G (p.Ala183=) c.547C>G c.546C>G | |
17 | g.73196740C>T | CA502026253 | COG1 | c.549C>T (p.Ala183=) c.547C>T c.546C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.73196741A>C | CA400884121 | COG1 | c.550A>C (p.Ser184Arg) c.548A>C c.547A>C | |
17 | g.73196741A>G | CA400884127 | COG1 | c.550A>G (p.Ser184Gly) c.548A>G c.547A>G | |
17 | g.73196741A>T | CA400884117 | COG1 | c.550A>T (p.Ser184Cys) c.548A>T c.547A>T | |
17 | g.73196742G>A | CA400884139 | COG1 | c.551G>A (p.Ser184Asn) c.549G>A c.548G>A | |
17 | g.73196742G>C | CA293799544 | COG1 | c.551G>C (p.Ser184Thr) c.549G>C c.548G>C | dbSNP gnomAD v4 |
17 | g.73196742G= | CA2274432034 | COG1 | c.551G= (p.Ser184=) c.549G= c.548G= | |
17 | g.73196742G>T | CA400884134 | COG1 | c.551G>T (p.Ser184Ile) c.549G>T c.548G>T | |
17 | g.73196743C>A | CA400884143 | COG1 | c.552C>A (p.Ser184Arg) c.550C>A c.549C>A | |
17 | g.73196743C= | CA2274432035 | COG1 | c.552C= (p.Ser184=) c.550C= c.549C= | |
17 | g.73196743C>G | CA400884145 | COG1 | c.552C>G (p.Ser184Arg) c.550C>G c.549C>G | |
17 | g.73196743C>T | CA502026256 | COG1 | c.552C>T (p.Ser184=) c.550C>T c.549C>T | ClinVar dbSNP gnomAD v4 |
17 | g.73196744C>A | CA8739990 | COG1 | c.553C>A (p.His185Asn) c.551C>A c.550C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196744C= | CA2274432036 | COG1 | c.553C= (p.His185=) c.551C= c.550C= | |
17 | g.73196744C>G | CA400884146 | COG1 | c.553C>G (p.His185Asp) c.551C>G c.550C>G | |
17 | g.73196744C>T | CA400884147 | COG1 | c.553C>T (p.His185Tyr) c.551C>T c.550C>T | gnomAD v4 |
17 | g.73196745A>C | CA400884152 | COG1 | c.554A>C (p.His185Pro) c.552A>C c.551A>C | |
17 | g.73196745A>G | CA400884157 | COG1 | c.554A>G (p.His185Arg) c.552A>G c.551A>G | |
17 | g.73196745A>T | CA400884159 | COG1 | c.554A>T (p.His185Leu) c.552A>T c.551A>T | |
17 | g.73196746C>A | CA400884163 | COG1 | c.555C>A (p.His185Gln) c.553C>A c.552C>A | |
17 | g.73196746C>G | CA400884166 | COG1 | c.555C>G (p.His185Gln) c.553C>G c.552C>G | |
17 | g.73196746C>T | CA502026257 | COG1 | c.555C>T (p.His185=) c.553C>T c.552C>T | |
17 | g.73196747T>A | CA400884176 | COG1 | c.556T>A (p.Phe186Ile) c.554T>A c.553T>A | |
17 | g.73196747T>C | CA400884172 | COG1 | c.556T>C (p.Phe186Leu) c.554T>C c.553T>C | |
17 | g.73196747T>G | CA400884169 | COG1 | c.556T>G (p.Phe186Val) c.554T>G c.553T>G | |
17 | g.73196748T>A | CA400884180 | COG1 | c.557T>A (p.Phe186Tyr) c.555T>A c.554T>A | |
17 | g.73196748T>C | CA400884181 | COG1 | c.557T>C (p.Phe186Ser) c.555T>C c.554T>C | |
17 | g.73196748T>G | CA400884184 | COG1 | c.557T>G (p.Phe186Cys) c.555T>G c.554T>G | |
17 | g.73196749C>A | CA400884189 | COG1 | c.558C>A (p.Phe186Leu) c.556C>A c.555C>A | |
17 | g.73196749C>G | CA400884193 | COG1 | c.558C>G (p.Phe186Leu) c.556C>G c.555C>G | |
17 | g.73196749C>T | CA502026287 | COG1 | c.558C>T (p.Phe186=) c.556C>T c.555C>T | gnomAD v4 |
17 | g.73196750C>A | CA502026288 | COG1 | c.559C>A (p.Arg187=) c.557C>A c.556C>A | |
17 | g.73196750C= | CA2274432037 | COG1 | c.559C= (p.Arg187=) c.557C= c.556C= | |
17 | g.73196750C>G | CA400884194 | COG1 | c.559C>G (p.Arg187Gly) c.557C>G c.556C>G | |
17 | g.73196750C>T | CA8739991 | COG1 | c.559C>T (p.Arg187Trp) c.557C>T c.556C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196751G>A | CA293799548 | COG1 | c.560G>A (p.Arg187Gln) c.558G>A c.557G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196751G>C | CA400884200 | COG1 | c.560G>C (p.Arg187Pro) c.558G>C c.557G>C | |
17 | g.73196751G= | CA2274432038 | COG1 | c.560G= (p.Arg187=) c.558G= c.557G= | |
17 | g.73196751G>T | CA8739992 | COG1 | c.560G>T (p.Arg187Leu) c.558G>T c.557G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196752G>A | CA400884201 | COG1 | c.560+1G>A (n.560+1G>A) c.558+1G>A c.557+1G>A | |
17 | g.73196752G>C | CA400884203 | COG1 | c.560+1G>C (n.560+1G>C) c.558+1G>C c.557+1G>C | |
17 | g.73196752G>T | CA400884207 | COG1 | c.560+1G>T (n.560+1G>T) c.558+1G>T c.557+1G>T | |
17 | g.73196753T>A | CA400884221 | COG1 | c.560+2T>A (n.560+2T>A) c.558+2T>A c.557+2T>A | |
17 | g.73196753T>C | CA400884216 | COG1 | c.560+2T>C (n.560+2T>C) c.558+2T>C c.557+2T>C | |
17 | g.73196753T>G | CA400884212 | COG1 | c.560+2T>G (n.560+2T>G) c.558+2T>G c.557+2T>G | |
17 | g.73196754A= | CA2274432039 | COG1 | c.560+3A= (n.560+3A=) c.558+3A= c.557+3A= | |
17 | g.73196754A>C | CA8739994 | COG1 | c.560+3A>C (n.560+3A>C) c.558+3A>C c.557+3A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196754A>G | CA8739993 | COG1 | c.560+3A>G (n.560+3A>G) c.558+3A>G c.557+3A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196755A= | CA2274432040 | COG1 | c.560+4A= (n.560+4A=) c.558+4A= c.557+4A= | |
17 | g.73196755A>G | CA8739995 | COG1 | c.560+4A>G (n.560+4A>G) c.558+4A>G c.557+4A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196756G>A | CA2639623370 | COG1 | c.560+5G>A (n.560+5G>A) c.558+5G>A c.557+5G>A | gnomAD v4 |
17 | g.73196757T>C | CA627590156 | COG1 | c.560+6T>C (n.560+6T>C) c.558+6T>C c.557+6T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196757T= | CA2274432041 | COG1 | c.560+6T= (n.560+6T=) c.558+6T= c.557+6T= | |
17 | g.73196758G>T | CA2639623371 | COG1 | c.560+7G>T (n.560+7G>T) c.558+7G>T c.557+7G>T | gnomAD v4 |
17 | g.73196759G>A | CA8739996 | COG1 | c.560+8G>A (n.560+8G>A) c.558+8G>A c.557+8G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196759G= | CA2274432042 | COG1 | c.560+8G= (n.560+8G=) c.558+8G= c.557+8G= | |
17 | g.73196759G>T | CA2274432043 | COG1 | c.560+8G>T (n.560+8G>T) c.558+8G>T c.557+8G>T | dbSNP |
17 | g.73196762C>A | CA2639623375 | COG1 | c.560+11C>A (n.560+11C>A) c.558+11C>A c.557+11C>A | gnomAD v4 |
17 | g.73196763C>T | CA2639623377 | COG1 | c.560+12C>T (n.560+12C>T) c.558+12C>T c.557+12C>T | gnomAD v4 |
17 | g.73196764A>G | CA2576374991 | COG1 | c.560+13A>G (n.560+13A>G) c.558+13A>G c.557+13A>G | gnomAD v4 |
17 | g.73196765G>A | CA2639623379 | COG1 | c.560+14G>A (n.560+14G>A) c.558+14G>A c.557+14G>A | gnomAD v4 |
17 | g.73196765G>T | CA2639623381 | COG1 | c.560+14G>T (n.560+14G>T) c.558+14G>T c.557+14G>T | gnomAD v4 |
17 | g.73196766C= | CA2274432044 | COG1 | c.560+15C= (n.560+15C=) c.558+15C= c.557+15C= | |
17 | g.73196766C>G | CA8739998 | COG1 | c.560+15C>G (n.560+15C>G) c.558+15C>G c.557+15C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196766C>T | CA8739997 | COG1 | c.560+15C>T (n.560+15C>T) c.558+15C>T c.557+15C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196766_73196767insTGGATTCTTCTAGTTCCCGATACA | CA2274432045 | COG1 | c.560+15_560+16insTGGATTCTTCTAGTTCCCGATACA (n.560+15_560+16insTGGATTCTTCTAGTTCCCGATACA) c.558+15_558+16insTGGATTCTTCTAGTTCCCGATACA c.557+15_557+16insTGGATTCTTCTAGTTCCCGATACA | dbSNP |
17 | g.73196767G>A | CA8739999 | COG1 | c.560+16G>A (n.560+16G>A) c.558+16G>A c.557+16G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196767G>C | CA2639623398 | COG1 | c.560+16G>C (n.560+16G>C) c.558+16G>C c.557+16G>C | gnomAD v4 |
17 | g.73196767G= | CA2274432046 | COG1 | c.560+16G= (n.560+16G=) c.558+16G= c.557+16G= | |
17 | g.73196767G>T | CA2639623400 | COG1 | c.560+16G>T (n.560+16G>T) c.558+16G>T c.557+16G>T | gnomAD v4 |
17 | g.73196768_73196770delinsCAA | CA2274432047 | COG1 | c.560+17_560+19delinsCAA (n.560+17_560+19delinsCAA) c.558+17_558+19delinsCAA c.557+17_557+19delinsCAA | |
17 | g.73196769A= | CA2274432048 | COG1 | c.560+18A= (n.560+18A=) c.558+18A= c.557+18A= | |
17 | g.73196769A>C | CA8740001 | COG1 | c.560+18A>C (n.560+18A>C) c.558+18A>C c.557+18A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196770_73196771del | CA8740000 | COG1 | c.560+19_560+20del (n.560+19_560+20del) c.558+19_558+20del c.557+19_557+20del | dbSNP ExAC gnomAD v2 |
17 | g.73196770A>G | CA2639623411 | COG1 | c.560+19A>G (n.560+19A>G) c.558+19A>G c.557+19A>G | gnomAD v4 |
17 | g.73196772G>C | CA293799591 | COG1 | c.560+21G>C (n.560+21G>C) c.558+21G>C c.557+21G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196772G= | CA2274432049 | COG1 | c.560+21G= (n.560+21G=) c.558+21G= c.557+21G= | |
17 | g.73196773A= | CA2274432050 | COG1 | c.560+22A= (n.560+22A=) c.558+22A= c.557+22A= | |
17 | g.73196773A>G | CA8740002 | COG1 | c.560+22A>G (n.560+22A>G) c.558+22A>G c.557+22A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196774G>C | CA2274432052 | COG1 | c.560+23G>C (n.560+23G>C) c.558+23G>C c.557+23G>C | dbSNP |
17 | g.73196774G= | CA2274432051 | COG1 | c.560+23G= (n.560+23G=) c.558+23G= c.557+23G= | |
17 | g.73196774G>T | CA986116842 | COG1 | c.560+23G>T (n.560+23G>T) c.558+23G>T c.557+23G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196775C>A | CA774876366 | COG1 | c.560+24C>A (n.560+24C>A) c.558+24C>A c.557+24C>A | dbSNP |
17 | g.73196775C= | CA2274432053 | COG1 | c.560+24C= (n.560+24C=) c.558+24C= c.557+24C= | |
17 | g.73196775C>T | CA656868224 | COG1 | c.560+24C>T (n.560+24C>T) c.558+24C>T c.557+24C>T | COSMIC |
17 | g.73196777G>A | CA8740003 | COG1 | c.560+26G>A (n.560+26G>A) c.558+26G>A c.557+26G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196777G= | CA2274432054 | COG1 | c.560+26G= (n.560+26G=) c.558+26G= c.557+26G= | |
17 | g.73196777G>T | CA2639623417 | COG1 | c.560+26G>T (n.560+26G>T) c.558+26G>T c.557+26G>T | gnomAD v4 |
17 | g.73196778C>G | CA2734170332 | COG1 | c.560+27C>G (n.560+27C>G) c.558+27C>G c.557+27C>G | dbSNP |
17 | g.73196778C>T | CA2639623419 | COG1 | c.560+27C>T (n.560+27C>T) c.558+27C>T c.557+27C>T | gnomAD v4 |
17 | g.73196780C= | CA2274432055 | COG1 | c.560+29C= (n.560+29C=) c.558+29C= c.557+29C= | |
17 | g.73196780C>G | CA8740004 | COG1 | c.560+29C>G (n.560+29C>G) c.558+29C>G c.557+29C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196781T>A | CA2639623420 | COG1 | c.560+30T>A (n.560+30T>A) c.558+30T>A c.557+30T>A | gnomAD v4 |
17 | g.73196781T>G | CA293799606 | COG1 | c.560+30T>G (n.560+30T>G) c.558+30T>G c.557+30T>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196781T= | CA2274432056 | COG1 | c.560+30T= (n.560+30T=) c.558+30T= c.557+30T= | |
17 | g.73196782G>C | CA986116850 | COG1 | c.560+31G>C (n.560+31G>C) c.558+31G>C c.557+31G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196782G= | CA2274432057 | COG1 | c.560+31G= (n.560+31G=) c.558+31G= c.557+31G= | |
17 | g.73196783G>A | CA2639623422 | COG1 | c.560+32G>A (n.560+32G>A) c.558+32G>A c.557+32G>A | gnomAD v4 |
17 | g.73196783G>T | CA2734170411 | COG1 | c.560+32G>T (n.560+32G>T) c.558+32G>T c.557+32G>T | dbSNP |
17 | g.73196784T>C | CA2639623424 | COG1 | c.560+33T>C (n.560+33T>C) c.558+33T>C c.557+33T>C | gnomAD v4 |
17 | g.73196785G>A | CA627590157 | COG1 | c.560+34G>A (n.560+34G>A) c.558+34G>A c.557+34G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73196785G= | CA2274432058 | COG1 | c.560+34G= (n.560+34G=) c.558+34G= c.557+34G= | |
17 | g.73196786G>A | CA2639623427 | COG1 | c.560+35G>A (n.560+35G>A) c.558+35G>A c.557+35G>A | gnomAD v4 |
17 | g.73196786G>T | CA2639623430 | COG1 | c.560+35G>T (n.560+35G>T) c.558+35G>T c.557+35G>T | gnomAD v4 |
17 | g.73196791C>T | CA2639623433 | COG1 | c.560+40C>T (n.560+40C>T) c.558+40C>T c.557+40C>T | gnomAD v4 |
17 | g.73196795C>T | CA2576374992 | COG1 | c.560+44C>T (n.560+44C>T) c.558+44C>T c.557+44C>T | gnomAD v4 |
17 | g.73196798C>A | CA2639623437 | COG1 | c.560+47C>A (n.560+47C>A) c.558+47C>A c.557+47C>A | gnomAD v4 |
17 | g.73196798C= | CA2274432059 | COG1 | c.560+47C= (n.560+47C=) c.558+47C= c.557+47C= | |
17 | g.73196798C>T | CA774876370 | COG1 | c.560+47C>T (n.560+47C>T) c.558+47C>T c.557+47C>T | dbSNP gnomAD v4 |
17 | g.73196799A= | CA2274432060 | COG1 | c.560+48A= (n.560+48A=) c.558+48A= c.557+48A= | |
17 | g.73196799A>C | CA2274432061 | COG1 | c.560+48A>C (n.560+48A>C) c.558+48A>C c.557+48A>C | dbSNP |
17 | g.73196799A>G | CA8740005 | COG1 | c.560+48A>G (n.560+48A>G) c.558+48A>G c.557+48A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196800C= | CA2274432062 | COG1 | c.560+49C= (n.560+49C=) c.558+49C= c.557+49C= | |
17 | g.73196800C>T | CA8740006 | COG1 | c.560+49C>T (n.560+49C>T) c.558+49C>T c.557+49C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196801A= | CA2274432063 | COG1 | c.560+50A= (n.560+50A=) c.558+50A= c.557+50A= | |
17 | g.73196801A>G | CA627590158 | COG1 | c.560+50A>G (n.560+50A>G) c.558+50A>G c.557+50A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196804_73196809del | CA2552758150 | COG1 | c.560+53_560+58del (n.560+53_560+58del) c.558+53_558+58del c.557+53_557+58del | |
17 | g.73196805C= | CA2274432064 | COG1 | c.560+54C= (n.560+54C=) c.558+54C= c.557+54C= | |
17 | g.73196805C>T | CA293799626 | COG1 | c.560+54C>T (n.560+54C>T) c.558+54C>T c.557+54C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196806G>A | CA986116857 | COG1 | c.560+55G>A (n.560+55G>A) c.558+55G>A c.557+55G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196806G= | CA2274432065 | COG1 | c.560+55G= (n.560+55G=) c.558+55G= c.557+55G= | |
17 | g.73196807G>A | CA2639623452 | COG1 | c.560+56G>A (n.560+56G>A) c.558+56G>A c.557+56G>A | gnomAD v4 |
17 | g.73196807G>T | CA2639623454 | COG1 | c.560+56G>T (n.560+56G>T) c.558+56G>T c.557+56G>T | gnomAD v4 |
17 | g.73196810T>A | CA2639623456 | COG1 | c.560+59T>A (n.560+59T>A) c.558+59T>A c.557+59T>A | gnomAD v4 |
17 | g.73196812A>G | CA2576374993 | COG1 | c.560+61A>G (n.560+61A>G) c.558+61A>G c.557+61A>G | gnomAD v4 |
17 | g.73196813T>C | CA2274432067 | COG1 | c.560+62T>C (n.560+62T>C) c.558+62T>C c.557+62T>C | dbSNP gnomAD v4 |
17 | g.73196813T>G | CA2639623459 | COG1 | c.560+62T>G (n.560+62T>G) c.558+62T>G c.557+62T>G | gnomAD v4 |
17 | g.73196813T= | CA2274432066 | COG1 | c.560+62T= (n.560+62T=) c.558+62T= c.557+62T= | |
17 | g.73196814G>A | CA2639623461 | COG1 | c.560+63G>A (n.560+63G>A) c.558+63G>A c.557+63G>A | gnomAD v4 |
17 | g.73196815G>A | CA2576374994 | COG1 | c.560+64G>A (n.560+64G>A) c.558+64G>A c.557+64G>A | gnomAD v4 |
17 | g.73196816C>A | CA2274432069 | COG1 | c.560+65C>A (n.560+65C>A) c.558+65C>A c.557+65C>A | dbSNP |
17 | g.73196816C= | CA2274432068 | COG1 | c.560+65C= (n.560+65C=) c.558+65C= c.557+65C= | |
17 | g.73196816C>G | CA774876373 | COG1 | c.560+65C>G (n.560+65C>G) c.558+65C>G c.557+65C>G | dbSNP |
17 | g.73196816C>T | CA14386383 | COG1 | c.560+65C>T (n.560+65C>T) c.558+65C>T c.557+65C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196817G>A | CA774876374 | COG1 | c.560+66G>A (n.560+66G>A) c.558+66G>A c.557+66G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196817G= | CA2274432070 | COG1 | c.560+66G= (n.560+66G=) c.558+66G= c.557+66G= | |
17 | g.73196820_73196823delinsTGTC | CA2274432071 | COG1 | c.560+69_560+72delinsTGTC (n.560+69_560+72delinsTGTC) c.558+69_558+72delinsTGTC c.557+69_557+72delinsTGTC | |
17 | g.73196821G>A | CA2576374995 | COG1 | c.560+70G>A (n.560+70G>A) c.558+70G>A c.557+70G>A | gnomAD v4 |
17 | g.73196821G>C | CA2576374996 | COG1 | c.560+70G>C (n.560+70G>C) c.558+70G>C c.557+70G>C | |
17 | g.73196821_73196823del | CA919891883 | COG1 | c.560+70_560+72del (n.560+70_560+72del) c.558+70_558+72del c.557+70_557+72del | dbSNP gnomAD v4 |
17 | g.73196822T>C | CA2274432073 | COG1 | c.560+71T>C (n.560+71T>C) c.558+71T>C c.557+71T>C | dbSNP gnomAD v4 |
17 | g.73196822T= | CA2274432072 | COG1 | c.560+71T= (n.560+71T=) c.558+71T= c.557+71T= | |
17 | g.73196823C>G | CA2639623472 | COG1 | c.560+72C>G (n.560+72C>G) c.558+72C>G c.557+72C>G | gnomAD v4 |
17 | g.73196825T>C | CA2576374997 | COG1 | c.561-75T>C (n.561-75T>C) c.559-75T>C c.558-75T>C | |
17 | g.73196825T>G | CA2274432075 | COG1 | c.561-75T>G (n.561-75T>G) c.559-75T>G c.558-75T>G | dbSNP |
17 | g.73196825T= | CA2274432074 | COG1 | c.561-75T= (n.561-75T=) c.559-75T= c.558-75T= | |
17 | g.73196826C>G | CA2639623474 | COG1 | c.561-74C>G (n.561-74C>G) c.559-74C>G c.558-74C>G | gnomAD v4 |
17 | g.73196827T>C | CA2274432077 | COG1 | c.561-73T>C (n.561-73T>C) c.559-73T>C c.558-73T>C | dbSNP gnomAD v4 |
17 | g.73196827T= | CA2274432076 | COG1 | c.561-73T= (n.561-73T=) c.559-73T= c.558-73T= | |
17 | g.73196829_73196838del | CA2639623478 | COG1 | c.561-71_561-62del (n.561-71_561-62del) c.559-71_559-62del c.558-71_558-62del | gnomAD v4 |
17 | g.73196831C>G | CA2639623482 | COG1 | c.561-69C>G (n.561-69C>G) c.559-69C>G c.558-69C>G | gnomAD v4 |
17 | g.73196834_73196836dup | CA2639623486 | COG1 | c.561-66_561-64dup (n.561-66_561-64dup) c.559-66_559-64dup c.558-66_558-64dup | gnomAD v4 |
17 | g.73196833G>A | CA2639623487 | COG1 | c.561-67G>A (n.561-67G>A) c.559-67G>A c.558-67G>A | gnomAD v4 |
17 | g.73196835T>C | CA293799627 | COG1 | c.561-65T>C (n.561-65T>C) c.559-65T>C c.558-65T>C | dbSNP gnomAD v4 |
17 | g.73196835T= | CA2274432078 | COG1 | c.561-65T= (n.561-65T=) c.559-65T= c.558-65T= |