Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7579643G>A | CA448714151 | DSP | c.3453G>A (p.Glu1151=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579643G>C | CA362684092 | DSP | c.3453G>C (p.Glu1151Asp) | |
6 | g.7579643G= | CA1608614369 | DSP | c.3453G= (p.Glu1151=) | |
6 | g.7579643G>T | CA362684093 | DSP | c.3453G>T (p.Glu1151Asp) | |
6 | g.7579644A= | CA1608614376 | DSP | c.3454A= (p.Asn1152=) | |
6 | g.7579644A>C | CA362684094 | DSP | c.3454A>C (p.Asn1152His) | |
6 | g.7579644A>G | CA362684095 | DSP | c.3454A>G (p.Asn1152Asp) | dbSNP gnomAD v2 |
6 | g.7579644A>T | CA362684096 | DSP | c.3454A>T (p.Asn1152Tyr) | |
6 | g.7579645A>C | CA362684099 | DSP | c.3455A>C (p.Asn1152Thr) | |
6 | g.7579645A>G | CA362684098 | DSP | c.3455A>G (p.Asn1152Ser) | COSMIC |
6 | g.7579645A>T | CA362684097 | DSP | c.3455A>T (p.Asn1152Ile) | |
6 | g.7579646C>A | CA038121 | DSP | c.3456C>A (p.Asn1152Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579646C= | CA1608614387 | DSP | c.3456C= (p.Asn1152=) | |
6 | g.7579646C>G | CA362684100 | DSP | c.3456C>G (p.Asn1152Lys) | |
6 | g.7579646C>T | CA038136 | DSP | c.3456C>T (p.Asn1152=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579647C>A | CA362684101 | DSP | c.3457C>A (p.Leu1153Ile) | |
6 | g.7579647C= | CA1608614393 | DSP | c.3457C= (p.Leu1153=) | |
6 | g.7579647C>G | CA362684102 | DSP | c.3457C>G (p.Leu1153Val) | |
6 | g.7579647C>T | CA362684103 | DSP | c.3457C>T (p.Leu1153Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579648T>A | CA362684104 | DSP | c.3458T>A (p.Leu1153His) | |
6 | g.7579648T>C | CA362684106 | DSP | c.3458T>C (p.Leu1153Pro) | |
6 | g.7579648T>G | CA362684105 | DSP | c.3458T>G (p.Leu1153Arg) | ClinVar dbSNP gnomAD v4 |
6 | g.7579648T= | CA1608614402 | DSP | c.3458T= (p.Leu1153=) | |
6 | g.7579649T>A | CA448714156 | DSP | c.3459T>A (p.Leu1153=) | |
6 | g.7579649T>C | CA448714158 | DSP | c.3459T>C (p.Leu1153=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579649T>G | CA448714160 | DSP | c.3459T>G (p.Leu1153=) | |
6 | g.7579649T= | CA1608614406 | DSP | c.3459T= (p.Leu1153=) | |
6 | g.7579650G>A | CA362684107 | DSP | c.3460G>A (p.Gly1154Ser) | gnomAD v4 |
6 | g.7579650G>C | CA362684108 | DSP | c.3460G>C (p.Gly1154Arg) | gnomAD v4 |
6 | g.7579650G>T | CA362684109 | DSP | c.3460G>T (p.Gly1154Cys) | |
6 | g.7579651G>A | CA362684110 | DSP | c.3461G>A (p.Gly1154Asp) | ClinVar dbSNP |
6 | g.7579651G>C | CA362684111 | DSP | c.3461G>C (p.Gly1154Ala) | |
6 | g.7579651G>T | CA362684112 | DSP | c.3461G>T (p.Gly1154Val) | |
6 | g.7579652T>A | CA448714162 | DSP | c.3462T>A (p.Gly1154=) | ClinVar dbSNP |
6 | g.7579652T>C | CA448714164 | DSP | c.3462T>C (p.Gly1154=) | |
6 | g.7579652T>G | CA448714166 | DSP | c.3462T>G (p.Gly1154=) | |
6 | g.7579652T= | CA1608614414 | DSP | c.3462T= (p.Gly1154=) | |
6 | g.7579653T>A | CA362684113 | DSP | c.3463T>A (p.Trp1155Arg) | |
6 | g.7579653T>C | CA362684114 | DSP | c.3463T>C (p.Trp1155Arg) | |
6 | g.7579653T>G | CA362684115 | DSP | c.3463T>G (p.Trp1155Gly) | |
6 | g.7579654G>A | CA362684116 | DSP | c.3464G>A (p.Trp1155Ter) | |
6 | g.7579654G>C | CA362684117 | DSP | c.3464G>C (p.Trp1155Ser) | |
6 | g.7579654G>T | CA362684118 | DSP | c.3464G>T (p.Trp1155Leu) | COSMIC |
6 | g.7579655G>A | CA362684120 | DSP | c.3465G>A (p.Trp1155Ter) | ClinVar dbSNP |
6 | g.7579655G>C | CA362684121 | DSP | c.3465G>C (p.Trp1155Cys) | ClinVar dbSNP gnomAD v4 |
6 | g.7579655G= | CA1608614419 | DSP | c.3465G= (p.Trp1155=) | |
6 | g.7579655G>T | CA362684119 | DSP | c.3465G>T (p.Trp1155Cys) | |
6 | g.7579656C>A | CA362684122 | DSP | c.3466C>A (p.Gln1156Lys) | |
6 | g.7579656C= | CA1608614421 | DSP | c.3466C= (p.Gln1156=) | |
6 | g.7579656C>G | CA362684124 | DSP | c.3466C>G (p.Gln1156Glu) | |
6 | g.7579656C>T | CA362684123 | DSP | c.3466C>T (p.Gln1156Ter) | ClinVar dbSNP |
6 | g.7579657A>C | CA362684125 | DSP | c.3467A>C (p.Gln1156Pro) | |
6 | g.7579657A>G | CA362684127 | DSP | c.3467A>G (p.Gln1156Arg) | |
6 | g.7579657A>T | CA362684126 | DSP | c.3467A>T (p.Gln1156Leu) | |
6 | g.7579658G>A | CA133968418 | DSP | c.3468G>A (p.Gln1156=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579658G>C | CA362684128 | DSP | c.3468G>C (p.Gln1156His) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579658G= | CA1608614426 | DSP | c.3468G= (p.Gln1156=) | |
6 | g.7579658G>T | CA362684129 | DSP | c.3468G>T (p.Gln1156His) | |
6 | g.7579659A= | CA1608614431 | DSP | c.3469A= (p.Lys1157=) | |
6 | g.7579659A>C | CA362684130 | DSP | c.3469A>C (p.Lys1157Gln) | ClinVar dbSNP |
6 | g.7579659A>G | CA362684131 | DSP | c.3469A>G (p.Lys1157Glu) | |
6 | g.7579659A>T | CA362684132 | DSP | c.3469A>T (p.Lys1157Ter) | |
6 | g.7579660A>C | CA362684133 | DSP | c.3470A>C (p.Lys1157Thr) | |
6 | g.7579660A>G | CA362684134 | DSP | c.3470A>G (p.Lys1157Arg) | |
6 | g.7579660A>T | CA362684135 | DSP | c.3470A>T (p.Lys1157Ile) | |
6 | g.7579661A= | CA1608614437 | DSP | c.3471A= (p.Lys1157=) | |
6 | g.7579661A>C | CA362684136 | DSP | c.3471A>C (p.Lys1157Asn) | |
6 | g.7579661A>G | CA038151 | DSP | c.3471A>G (p.Lys1157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579661A>T | CA362684137 | DSP | c.3471A>T (p.Lys1157Asn) | |
6 | g.7579662T>A | CA362684139 | DSP | c.3472T>A (p.Leu1158Ile) | |
6 | g.7579662T>C | CA448714170 | DSP | c.3472T>C (p.Leu1158=) | |
6 | g.7579662T>G | CA362684138 | DSP | c.3472T>G (p.Leu1158Val) | |
6 | g.7579663T>A | CA362684140 | DSP | c.3473T>A (p.Leu1158Ter) | |
6 | g.7579663T>C | CA038170 | DSP | c.3473T>C (p.Leu1158Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579663T>G | CA362684141 | DSP | c.3473T>G (p.Leu1158Ter) | ClinVar |
6 | g.7579663T= | CA1608614444 | DSP | c.3473T= (p.Leu1158=) | |
6 | g.7579664A>C | CA362684142 | DSP | c.3474A>C (p.Leu1158Phe) | |
6 | g.7579664A>G | CA448714171 | DSP | c.3474A>G (p.Leu1158=) | |
6 | g.7579664A>T | CA362684143 | DSP | c.3474A>T (p.Leu1158Phe) | |
6 | g.7579664dup | CA005804 | DSP | c.3474dup (p.Glu1159ArgfsTer3) | ClinVar dbSNP gnomAD v4 |
6 | g.7579665G>A | CA362684144 | DSP | c.3475G>A (p.Glu1159Lys) | |
6 | g.7579665G>C | CA362684145 | DSP | c.3475G>C (p.Glu1159Gln) | |
6 | g.7579665G>T | CA362684146 | DSP | c.3475G>T (p.Glu1159Ter) | |
6 | g.7579666A>C | CA362684147 | DSP | c.3476A>C (p.Glu1159Ala) | |
6 | g.7579666A>G | CA362684148 | DSP | c.3476A>G (p.Glu1159Gly) | |
6 | g.7579666A>T | CA362684149 | DSP | c.3476A>T (p.Glu1159Val) | |
6 | g.7579667G>A | CA448714173 | DSP | c.3477G>A (p.Glu1159=) | |
6 | g.7579667G>C | CA362684150 | DSP | c.3477G>C (p.Glu1159Asp) | gnomAD v4 |
6 | g.7579667G>T | CA362684151 | DSP | c.3477G>T (p.Glu1159Asp) | |
6 | g.7579668T>A | CA362684152 | DSP | c.3478T>A (p.Ser1160Thr) | |
6 | g.7579668T>C | CA362684153 | DSP | c.3478T>C (p.Ser1160Pro) | |
6 | g.7579668T>G | CA362684154 | DSP | c.3478T>G (p.Ser1160Ala) | |
6 | g.7579669C>A | CA362684155 | DSP | c.3479C>A (p.Ser1160Tyr) | gnomAD v4 |
6 | g.7579669C= | CA1608614455 | DSP | c.3479C= (p.Ser1160=) | |
6 | g.7579669C>G | CA362684156 | DSP | c.3479C>G (p.Ser1160Cys) | dbSNP gnomAD v4 |
6 | g.7579669C>T | CA362684157 | DSP | c.3479C>T (p.Ser1160Phe) | |
6 | g.7579669_7579670insATTCTTCTGTTGGTCAAATCTGTCTTCCACAGATTTTCTTCTTCTCTT | CA2547961472 | DSP | c.3479_3480insATTCTTCTGTTGGTCAAATCTGTCTTCCACAGATTTTCTTCTTCTCTT (p.Ser1160_Glu1161insPhePheCysTrpSerAsnLeuSerSerThrAspPheLeuLeuLeuPhe) | |
6 | g.7579670T>A | CA448714175 | DSP | c.3480T>A (p.Ser1160=) | |
6 | g.7579670T>C | CA038182 | DSP | c.3480T>C (p.Ser1160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579670T>G | CA448714176 | DSP | c.3480T>G (p.Ser1160=) | |
6 | g.7579670T= | CA1608614459 | DSP | c.3480T= (p.Ser1160=) | |
6 | g.7579671G>A | CA133968430 | DSP | c.3481G>A (p.Glu1161Lys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579671G>C | CA362684158 | DSP | c.3481G>C (p.Glu1161Gln) | |
6 | g.7579671G= | CA1608614461 | DSP | c.3481G= (p.Glu1161=) | |
6 | g.7579671G>T | CA362684159 | DSP | c.3481G>T (p.Glu1161Ter) | gnomAD v4 |
6 | g.7579672A>C | CA362684160 | DSP | c.3482A>C (p.Glu1161Ala) | |
6 | g.7579672A>G | CA362684161 | DSP | c.3482A>G (p.Glu1161Gly) | |
6 | g.7579672A>T | CA362684162 | DSP | c.3482A>T (p.Glu1161Val) | |
6 | g.7579673G>A | CA448714177 | DSP | c.3483G>A (p.Glu1161=) | |
6 | g.7579673G>C | CA362684163 | DSP | c.3483G>C (p.Glu1161Asp) | |
6 | g.7579673G>T | CA362684164 | DSP | c.3483G>T (p.Glu1161Asp) | |
6 | g.7579674A>C | CA362684165 | DSP | c.3484A>C (p.Lys1162Gln) | |
6 | g.7579674A>G | CA362684166 | DSP | c.3484A>G (p.Lys1162Glu) | |
6 | g.7579674A>T | CA362684167 | DSP | c.3484A>T (p.Lys1162Ter) | |
6 | g.7579675A>C | CA362684168 | DSP | c.3485A>C (p.Lys1162Thr) | ClinVar |
6 | g.7579675A>G | CA362684169 | DSP | c.3485A>G (p.Lys1162Arg) | |
6 | g.7579675A>T | CA362684170 | DSP | c.3485A>T (p.Lys1162Ile) | |
6 | g.7579676A= | CA1608614464 | DSP | c.3486A= (p.Lys1162=) | |
6 | g.7579676A>C | CA362684171 | DSP | c.3486A>C (p.Lys1162Asn) | |
6 | g.7579676A>G | CA448714179 | DSP | c.3486A>G (p.Lys1162=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579676A>T | CA362684172 | DSP | c.3486A>T (p.Lys1162Asn) | |
6 | g.7579677G>A | CA362684173 | DSP | c.3487G>A (p.Ala1163Thr) | |
6 | g.7579677G>C | CA362684174 | DSP | c.3487G>C (p.Ala1163Pro) | |
6 | g.7579677G= | CA1608614470 | DSP | c.3487G= (p.Ala1163=) | |
6 | g.7579677G>T | CA362684175 | DSP | c.3487G>T (p.Ala1163Ser) | |
6 | g.7579678C>A | CA362684177 | DSP | c.3488C>A (p.Ala1163Asp) | gnomAD v4 |
6 | g.7579678C>G | CA362684178 | DSP | c.3488C>G (p.Ala1163Gly) | |
6 | g.7579678C>T | CA362684176 | DSP | c.3488C>T (p.Ala1163Val) | |
6 | g.7579679dup | CA828077383 | DSP | c.3489dup (p.Ile1164HisfsTer9) | dbSNP |
6 | g.7579679C>A | CA448714180 | DSP | c.3489C>A (p.Ala1163=) | |
6 | g.7579679C= | CA1608614483 | DSP | c.3489C= (p.Ala1163=) | |
6 | g.7579679C>G | CA448714181 | DSP | c.3489C>G (p.Ala1163=) | |
6 | g.7579679C>T | CA448714182 | DSP | c.3489C>T (p.Ala1163=) | dbSNP |
6 | g.7579680A>C | CA362684181 | DSP | c.3490A>C (p.Ile1164Leu) | ClinVar |
6 | g.7579680A>G | CA362684179 | DSP | c.3490A>G (p.Ile1164Val) | ClinVar gnomAD v4 |
6 | g.7579680A>T | CA362684180 | DSP | c.3490A>T (p.Ile1164Phe) | |
6 | g.7579681T>A | CA362684182 | DSP | c.3491T>A (p.Ile1164Asn) | |
6 | g.7579681T>C | CA362684183 | DSP | c.3491T>C (p.Ile1164Thr) | |
6 | g.7579681T>G | CA362684184 | DSP | c.3491T>G (p.Ile1164Ser) | |
6 | g.7579682C>A | CA448714186 | DSP | c.3492C>A (p.Ile1164=) | |
6 | g.7579682C= | CA1608614486 | DSP | c.3492C= (p.Ile1164=) | |
6 | g.7579682C>G | CA362684185 | DSP | c.3492C>G (p.Ile1164Met) | ClinVar dbSNP |
6 | g.7579682C>T | CA448714187 | DSP | c.3492C>T (p.Ile1164=) | |
6 | g.7579682_7579688del | CA2580614830 | DSP | c.3492_3498del (p.Lys1165ArgfsTer8) | ClinVar |
6 | g.7579683A>C | CA362684188 | DSP | c.3493A>C (p.Lys1165Gln) | |
6 | g.7579683A>G | CA362684186 | DSP | c.3493A>G (p.Lys1165Glu) | |
6 | g.7579683A>T | CA362684187 | DSP | c.3493A>T (p.Lys1165Ter) | |
6 | g.7579684dup | CA2499218557 | DSP | c.3494dup (p.Glu1166GlyfsTer7) | ClinVar dbSNP |
6 | g.7579684A>C | CA362684189 | DSP | c.3494A>C (p.Lys1165Thr) | |
6 | g.7579684A>G | CA362684190 | DSP | c.3494A>G (p.Lys1165Arg) | |
6 | g.7579684A>T | CA362684191 | DSP | c.3494A>T (p.Lys1165Met) | ClinVar |
6 | g.7579685G>A | CA448714188 | DSP | c.3495G>A (p.Lys1165=) | |
6 | g.7579685G>C | CA362684192 | DSP | c.3495G>C (p.Lys1165Asn) | |
6 | g.7579685G>T | CA362684193 | DSP | c.3495G>T (p.Lys1165Asn) | |
6 | g.7579686G>A | CA362684194 | DSP | c.3496G>A (p.Glu1166Lys) | |
6 | g.7579686G>C | CA362684196 | DSP | c.3496G>C (p.Glu1166Gln) | |
6 | g.7579686G>T | CA362684195 | DSP | c.3496G>T (p.Glu1166Ter) | |
6 | g.7579686_7579689delinsGAGA | CA1608614491 | DSP | c.3496_3499delinsGAGA (p.Glu1166=) | |
6 | g.7579687A>C | CA362684197 | DSP | c.3497A>C (p.Glu1166Ala) | |
6 | g.7579687A>G | CA362684198 | DSP | c.3497A>G (p.Glu1166Gly) | ClinVar dbSNP |
6 | g.7579687A>T | CA362684199 | DSP | c.3497A>T (p.Glu1166Val) | |
6 | g.7579689_7579691del | CA658796711 | DSP | c.3499_3501del (p.Lys1167del) | ClinVar dbSNP gnomAD v4 |
6 | g.7579688G>A | CA448714189 | DSP | c.3498G>A (p.Glu1166=) | |
6 | g.7579688G>C | CA362684200 | DSP | c.3498G>C (p.Glu1166Asp) | |
6 | g.7579688G>T | CA362684201 | DSP | c.3498G>T (p.Glu1166Asp) | |
6 | g.7579689A>C | CA362684202 | DSP | c.3499A>C (p.Lys1167Gln) | gnomAD v4 |
6 | g.7579689A>G | CA362684203 | DSP | c.3499A>G (p.Lys1167Glu) | |
6 | g.7579689A>T | CA362684204 | DSP | c.3499A>T (p.Lys1167Ter) | |
6 | g.7579690dup | CA2695206007 | DSP | c.3500dup (p.Glu1168GlyfsTer5) | |
6 | g.7579690A>C | CA362684205 | DSP | c.3500A>C (p.Lys1167Thr) | |
6 | g.7579690A>G | CA362684206 | DSP | c.3500A>G (p.Lys1167Arg) | |
6 | g.7579690A>T | CA362684207 | DSP | c.3500A>T (p.Lys1167Met) | |
6 | g.7579691G>A | CA448714191 | DSP | c.3501G>A (p.Lys1167=) | ClinVar |
6 | g.7579691G>C | CA362684208 | DSP | c.3501G>C (p.Lys1167Asn) | |
6 | g.7579691G= | CA1608614498 | DSP | c.3501G= (p.Lys1167=) | |
6 | g.7579691G>T | CA362684209 | DSP | c.3501G>T (p.Lys1167Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
6 | g.7579692G>A | CA038217 | DSP | c.3502G>A (p.Glu1168Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579692G>C | CA362684210 | DSP | c.3502G>C (p.Glu1168Gln) | |
6 | g.7579692G= | CA1608614503 | DSP | c.3502G= (p.Glu1168=) | |
6 | g.7579692G>T | CA362684211 | DSP | c.3502G>T (p.Glu1168Ter) | |
6 | g.7579693A= | CA1608614510 | DSP | c.3503A= (p.Glu1168=) | |
6 | g.7579693A>C | CA362684212 | DSP | c.3503A>C (p.Glu1168Ala) | |
6 | g.7579693A>G | CA038236 | DSP | c.3503A>G (p.Glu1168Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579693A>T | CA362684213 | DSP | c.3503A>T (p.Glu1168Val) | |
6 | g.7579694G>A | CA448714192 | DSP | c.3504G>A (p.Glu1168=) | ClinVar gnomAD v4 |
6 | g.7579694G>C | CA362684215 | DSP | c.3504G>C (p.Glu1168Asp) | |
6 | g.7579694G= | CA1608614513 | DSP | c.3504G= (p.Glu1168=) | |
6 | g.7579694G>T | CA362684214 | DSP | c.3504G>T (p.Glu1168Asp) | ClinVar dbSNP gnomAD v4 |
6 | g.7579695T>A | CA362684216 | DSP | c.3505T>A (p.Tyr1169Asn) | ClinVar dbSNP gnomAD v4 |
6 | g.7579695T>C | CA362684217 | DSP | c.3505T>C (p.Tyr1169His) | |
6 | g.7579695T>G | CA362684218 | DSP | c.3505T>G (p.Tyr1169Asp) | gnomAD v4 |
6 | g.7579696A= | CA1608614516 | DSP | c.3506A= (p.Tyr1169=) | |
6 | g.7579696A>C | CA362684219 | DSP | c.3506A>C (p.Tyr1169Ser) | |
6 | g.7579696A>G | CA362684220 | DSP | c.3506A>G (p.Tyr1169Cys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579696A>T | CA362684221 | DSP | c.3506A>T (p.Tyr1169Phe) | |
6 | g.7579697C>A | CA10576698 | DSP | c.3507C>A (p.Tyr1169Ter) | ClinVar dbSNP gnomAD v4 |
6 | g.7579697C= | CA1608614546 | DSP | c.3507C= (p.Tyr1169=) | |
6 | g.7579697C>G | CA362684222 | DSP | c.3507C>G (p.Tyr1169Ter) | |
6 | g.7579697C>T | CA005818 | DSP | c.3507C>T (p.Tyr1169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579698G>A | CA133968478 | DSP | c.3508G>A (p.Glu1170Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.7579698G>C | CA362684223 | DSP | c.3508G>C (p.Glu1170Gln) | ClinVar |
6 | g.7579698G= | CA1608614552 | DSP | c.3508G= (p.Glu1170=) | |
6 | g.7579698G>T | CA362684224 | DSP | c.3508G>T (p.Glu1170Ter) | |
6 | g.7579699A>C | CA362684225 | DSP | c.3509A>C (p.Glu1170Ala) | |
6 | g.7579699A>G | CA362684226 | DSP | c.3509A>G (p.Glu1170Gly) | COSMIC |
6 | g.7579699A>T | CA362684227 | DSP | c.3509A>T (p.Glu1170Val) | |
6 | g.7579700G>A | CA005826 | DSP | c.3510G>A (p.Glu1170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579700G>C | CA362684228 | DSP | c.3510G>C (p.Glu1170Asp) | |
6 | g.7579700G= | CA1608614558 | DSP | c.3510G= (p.Glu1170=) | |
6 | g.7579700G>T | CA362684229 | DSP | c.3510G>T (p.Glu1170Asp) | |
6 | g.7579701A>C | CA362684230 | DSP | c.3511A>C (p.Ile1171Leu) | |
6 | g.7579701A>G | CA362684231 | DSP | c.3511A>G (p.Ile1171Val) | |
6 | g.7579701A>T | CA362684232 | DSP | c.3511A>T (p.Ile1171Phe) | |
6 | g.7579702T>A | CA362684234 | DSP | c.3512T>A (p.Ile1171Asn) | |
6 | g.7579702T>C | CA038290 | DSP | c.3512T>C (p.Ile1171Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579702T>G | CA362684233 | DSP | c.3512T>G (p.Ile1171Ser) | |
6 | g.7579702T= | CA1608614563 | DSP | c.3512T= (p.Ile1171=) | |
6 | g.7579703T>A | CA448714195 | DSP | c.3513T>A (p.Ile1171=) | dbSNP |
6 | g.7579703T>C | CA448714196 | DSP | c.3513T>C (p.Ile1171=) | |
6 | g.7579703T>G | CA362684235 | DSP | c.3513T>G (p.Ile1171Met) | ClinVar |
6 | g.7579703T= | CA1608614568 | DSP | c.3513T= (p.Ile1171=) | |
6 | g.7579704G>A | CA362684236 | DSP | c.3514G>A (p.Glu1172Lys) | COSMIC |
6 | g.7579704G>C | CA362684238 | DSP | c.3514G>C (p.Glu1172Gln) | |
6 | g.7579704G>T | CA362684237 | DSP | c.3514G>T (p.Glu1172Ter) | |
6 | g.7579705A>C | CA362684239 | DSP | c.3515A>C (p.Glu1172Ala) | |
6 | g.7579705A>G | CA362684241 | DSP | c.3515A>G (p.Glu1172Gly) | |
6 | g.7579705A>T | CA362684240 | DSP | c.3515A>T (p.Glu1172Val) | |
6 | g.7579707del | CA2580614831 | DSP | c.3517del (p.Arg1173GlyfsTer2) | ClinVar |
6 | g.7579706A= | CA1608614572 | DSP | c.3516A= (p.Glu1172=) | |
6 | g.7579706A>C | CA362684242 | DSP | c.3516A>C (p.Glu1172Asp) | |
6 | g.7579706A>G | CA448714198 | DSP | c.3516A>G (p.Glu1172=) | dbSNP |
6 | g.7579706A>T | CA362684243 | DSP | c.3516A>T (p.Glu1172Asp) | |
6 | g.7579707A>C | CA448714199 | DSP | c.3517A>C (p.Arg1173=) | |
6 | g.7579707A>G | CA362684244 | DSP | c.3517A>G (p.Arg1173Gly) | |
6 | g.7579707A>T | CA362684245 | DSP | c.3517A>T (p.Arg1173Trp) | |
6 | g.7579708G>A | CA362684246 | DSP | c.3518G>A (p.Arg1173Lys) | |
6 | g.7579708G>C | CA362684247 | DSP | c.3518G>C (p.Arg1173Thr) | |
6 | g.7579708G>T | CA362684248 | DSP | c.3518G>T (p.Arg1173Met) | ClinVar |
6 | g.7579709G>A | CA448714201 | DSP | c.3519G>A (p.Arg1173=) | ClinVar gnomAD v4 |
6 | g.7579709G>C | CA362684249 | DSP | c.3519G>C (p.Arg1173Ser) | gnomAD v4 |
6 | g.7579709G>T | CA362684250 | DSP | c.3519G>T (p.Arg1173Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579710T>A | CA362684251 | DSP | c.3520T>A (p.Leu1174Met) | |
6 | g.7579710T>C | CA448714202 | DSP | c.3520T>C (p.Leu1174=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579710T>G | CA362684252 | DSP | c.3520T>G (p.Leu1174Val) | |
6 | g.7579710T= | CA1608614575 | DSP | c.3520T= (p.Leu1174=) | |
6 | g.7579711T>A | CA362684255 | DSP | c.3521T>A (p.Leu1174Ter) | |
6 | g.7579711T>C | CA362684253 | DSP | c.3521T>C (p.Leu1174Ser) | ClinVar |
6 | g.7579711T>G | CA362684254 | DSP | c.3521T>G (p.Leu1174Trp) | gnomAD v3 gnomAD v4 |
6 | g.7579712G>A | CA448714216 | DSP | c.3522G>A (p.Leu1174=) | ClinVar gnomAD v4 |
6 | g.7579712G>C | CA362684256 | DSP | c.3522G>C (p.Leu1174Phe) | |
6 | g.7579712G= | CA1608614582 | DSP | c.3522G= (p.Leu1174=) | |
6 | g.7579712G>T | CA362684257 | DSP | c.3522G>T (p.Leu1174Phe) | |
6 | g.7579712_7579713insGTCAT | CA1608614585 | DSP | c.3522_3523insGTCAT (p.Arg1175ValfsTer23) c.3522_3523insGTCAT (p.Arg1175ValfsTer?) | dbSNP |
6 | g.7579713A>C | CA448714217 | DSP | c.3523A>C (p.Arg1175=) | |
6 | g.7579713A>G | CA362684258 | DSP | c.3523A>G (p.Arg1175Gly) | |
6 | g.7579713A>T | CA362684259 | DSP | c.3523A>T (p.Arg1175Trp) | |
6 | g.7579713_7579714delinsAG | CA1608614587 | DSP | c.3523_3524delinsAG (p.Arg1175=) | |
6 | g.7579714G>A | CA362684260 | DSP | c.3524G>A (p.Arg1175Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.7579714G>C | CA362684261 | DSP | c.3524G>C (p.Arg1175Thr) | gnomAD v4 |
6 | g.7579714G= | CA1608614592 | DSP | c.3524G= (p.Arg1175=) | |
6 | g.7579714G>T | CA362684262 | DSP | c.3524G>T (p.Arg1175Met) | |
6 | g.7579716del | CA005835 | DSP | c.3526del (p.Val1176PhefsTer20) c.3526del (p.Val1176PhefsTer?) | ClinVar dbSNP |
6 | g.7579715G>A | CA448714219 | DSP | c.3525G>A (p.Arg1175=) | dbSNP |
6 | g.7579715G>C | CA362684263 | DSP | c.3525G>C (p.Arg1175Ser) | |
6 | g.7579715G= | CA1608614593 | DSP | c.3525G= (p.Arg1175=) | |
6 | g.7579715G>T | CA362684264 | DSP | c.3525G>T (p.Arg1175Ser) | |
6 | g.7579715_7579717dup | CA2677226185 | DSP | c.3525_3527dup (p.Val1176_Leu1177insVal) | gnomAD v4 |
6 | g.7579716G>A | CA362684266 | DSP | c.3526G>A (p.Val1176Ile) | ClinVar gnomAD v4 |
6 | g.7579716G>C | CA362684267 | DSP | c.3526G>C (p.Val1176Leu) | |
6 | g.7579716G= | CA1608614594 | DSP | c.3526G= (p.Val1176=) | |
6 | g.7579716G>T | CA362684265 | DSP | c.3526G>T (p.Val1176Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579717T>A | CA362684268 | DSP | c.3527T>A (p.Val1176Asp) | |
6 | g.7579717T>C | CA362684269 | DSP | c.3527T>C (p.Val1176Ala) | ClinVar dbSNP |
6 | g.7579717T>G | CA362684270 | DSP | c.3527T>G (p.Val1176Gly) | |
6 | g.7579717T= | CA1608614596 | DSP | c.3527T= (p.Val1176=) | |
6 | g.7579718T>A | CA448714223 | DSP | c.3528T>A (p.Val1176=) | |
6 | g.7579718T>C | CA448714221 | DSP | c.3528T>C (p.Val1176=) | |
6 | g.7579718T>G | CA448714222 | DSP | c.3528T>G (p.Val1176=) | |
6 | g.7579719del | CA2740094257 | DSP | c.3529del (p.Leu1177TyrfsTer19) c.3529del (p.Leu1177TyrfsTer?) | ClinVar |
6 | g.7579719C>A | CA362684271 | DSP | c.3529C>A (p.Leu1177Ile) | ClinVar |
6 | g.7579719C>G | CA362684272 | DSP | c.3529C>G (p.Leu1177Val) | |
6 | g.7579719C>T | CA448714225 | DSP | c.3529C>T (p.Leu1177=) | |
6 | g.7579720T>A | CA038306 | DSP | c.3530T>A (p.Leu1177Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579720T>C | CA362684273 | DSP | c.3530T>C (p.Leu1177Pro) | |
6 | g.7579720T>G | CA362684274 | DSP | c.3530T>G (p.Leu1177Arg) | |
6 | g.7579720T= | CA1608614599 | DSP | c.3530T= (p.Leu1177=) | |
6 | g.7579721A>C | CA448714226 | DSP | c.3531A>C (p.Leu1177=) | |
6 | g.7579721A>G | CA448714228 | DSP | c.3531A>G (p.Leu1177=) | ClinVar |
6 | g.7579721A>T | CA448714227 | DSP | c.3531A>T (p.Leu1177=) | gnomAD v4 |
6 | g.7579722C>A | CA362684275 | DSP | c.3532C>A (p.Leu1178Met) | |
6 | g.7579722C= | CA1608614608 | DSP | c.3532C= (p.Leu1178=) | |
6 | g.7579722C>G | CA362684276 | DSP | c.3532C>G (p.Leu1178Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579722C>T | CA448714232 | DSP | c.3532C>T (p.Leu1178=) | ClinVar dbSNP gnomAD v4 |
6 | g.7579723T>A | CA362684277 | DSP | c.3533T>A (p.Leu1178Gln) | |
6 | g.7579723T>C | CA362684278 | DSP | c.3533T>C (p.Leu1178Pro) | |
6 | g.7579723T>G | CA362684279 | DSP | c.3533T>G (p.Leu1178Arg) | |
6 | g.7579724G>A | CA448714272 | DSP | c.3534G>A (p.Leu1178=) | |
6 | g.7579724G>C | CA448714273 | DSP | c.3534G>C (p.Leu1178=) | |
6 | g.7579724G>T | CA448714274 | DSP | c.3534G>T (p.Leu1178=) | |
6 | g.7579725C>A | CA362684280 | DSP | c.3535C>A (p.Gln1179Lys) | |
6 | g.7579725C= | CA1608614628 | DSP | c.3535C= (p.Gln1179=) | |
6 | g.7579725C>G | CA362684282 | DSP | c.3535C>G (p.Gln1179Glu) | |
6 | g.7579725C>T | CA362684281 | DSP | c.3535C>T (p.Gln1179Ter) | ClinVar dbSNP |
6 | g.7579726A= | CA1608614638 | DSP | c.3536A= (p.Gln1179=) | |
6 | g.7579726A>C | CA362684283 | DSP | c.3536A>C (p.Gln1179Pro) | |
6 | g.7579726A>G | CA362684284 | DSP | c.3536A>G (p.Gln1179Arg) | ClinVar dbSNP |
6 | g.7579726A>T | CA362684285 | DSP | c.3536A>T (p.Gln1179Leu) | |
6 | g.7579727G>A | CA448714275 | DSP | c.3537G>A (p.Gln1179=) | dbSNP gnomAD v4 |
6 | g.7579727G>C | CA362684286 | DSP | c.3537G>C (p.Gln1179His) | |
6 | g.7579727G= | CA1608614640 | DSP | c.3537G= (p.Gln1179=) | |
6 | g.7579727G>T | CA362684287 | DSP | c.3537G>T (p.Gln1179His) | |
6 | g.7579728G>A | CA362684288 | DSP | c.3538G>A (p.Glu1180Lys) | ClinVar |
6 | g.7579728G>C | CA362684289 | DSP | c.3538G>C (p.Glu1180Gln) | |
6 | g.7579728G>T | CA362684290 | DSP | c.3538G>T (p.Glu1180Ter) | |
6 | g.7579729A>C | CA362684291 | DSP | c.3539A>C (p.Glu1180Ala) | |
6 | g.7579729A>G | CA362684292 | DSP | c.3539A>G (p.Glu1180Gly) | |
6 | g.7579729A>T | CA362684293 | DSP | c.3539A>T (p.Glu1180Val) | |
6 | g.7579730A= | CA1608614645 | DSP | c.3540A= (p.Glu1180=) | |
6 | g.7579730A>C | CA362684295 | DSP | c.3540A>C (p.Glu1180Asp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579730A>G | CA038348 | DSP | c.3540A>G (p.Glu1180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579730A>T | CA362684294 | DSP | c.3540A>T (p.Glu1180Asp) | |
6 | g.7579731G>A | CA362684298 | DSP | c.3541G>A (p.Glu1181Lys) | gnomAD v4 |
6 | g.7579731G>C | CA362684296 | DSP | c.3541G>C (p.Glu1181Gln) | |
6 | g.7579731G>T | CA362684297 | DSP | c.3541G>T (p.Glu1181Ter) | ClinVar |
6 | g.7579732A>C | CA362684299 | DSP | c.3542A>C (p.Glu1181Ala) | |
6 | g.7579732A>G | CA362684300 | DSP | c.3542A>G (p.Glu1181Gly) | |
6 | g.7579732A>T | CA362684301 | DSP | c.3542A>T (p.Glu1181Val) | |
6 | g.7579733A= | CA1608614647 | DSP | c.3543A= (p.Glu1181=) | |
6 | g.7579733A>C | CA362684302 | DSP | c.3543A>C (p.Glu1181Asp) | |
6 | g.7579733A>G | CA448714276 | DSP | c.3543A>G (p.Glu1181=) | dbSNP |
6 | g.7579733A>T | CA362684303 | DSP | c.3543A>T (p.Glu1181Asp) | |
6 | g.7579734G>A | CA362684304 | DSP | c.3544G>A (p.Gly1182Ser) | dbSNP |
6 | g.7579734G>C | CA362684305 | DSP | c.3544G>C (p.Gly1182Arg) | ClinVar dbSNP |
6 | g.7579734G= | CA1608614652 | DSP | c.3544G= (p.Gly1182=) | |
6 | g.7579734G>T | CA362684306 | DSP | c.3544G>T (p.Gly1182Cys) | |
6 | g.7579735G>A | CA362684307 | DSP | c.3545G>A (p.Gly1182Asp) | gnomAD v4 |
6 | g.7579735G>C | CA362684308 | DSP | c.3545G>C (p.Gly1182Ala) | |
6 | g.7579735G>T | CA362684309 | DSP | c.3545G>T (p.Gly1182Val) | |
6 | g.7579736C>A | CA448714277 | DSP | c.3546C>A (p.Gly1182=) | ClinVar dbSNP gnomAD v4 |
6 | g.7579736C= | CA1608614657 | DSP | c.3546C= (p.Gly1182=) | |
6 | g.7579736C>G | CA448714278 | DSP | c.3546C>G (p.Gly1182=) | |
6 | g.7579736C>T | CA448714279 | DSP | c.3546C>T (p.Gly1182=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579737A= | CA1608614666 | DSP | c.3547A= (p.Thr1183=) | |
6 | g.7579737A>C | CA362684310 | DSP | c.3547A>C (p.Thr1183Pro) | |
6 | g.7579737A>G | CA362684312 | DSP | c.3547A>G (p.Thr1183Ala) | dbSNP gnomAD v4 |
6 | g.7579737A>T | CA362684311 | DSP | c.3547A>T (p.Thr1183Ser) | |
6 | g.7579738C>A | CA362684313 | DSP | c.3548C>A (p.Thr1183Asn) | |
6 | g.7579738C= | CA1608614673 | DSP | c.3548C= (p.Thr1183=) | |
6 | g.7579738C>G | CA362684314 | DSP | c.3548C>G (p.Thr1183Ser) | |
6 | g.7579738C>T | CA362684315 | DSP | c.3548C>T (p.Thr1183Ile) | ClinVar dbSNP gnomAD v2 |
6 | g.7579739C>A | CA448714280 | DSP | c.3549C>A (p.Thr1183=) | |
6 | g.7579739C>G | CA448714281 | DSP | c.3549C>G (p.Thr1183=) | |
6 | g.7579739C>T | CA448714282 | DSP | c.3549C>T (p.Thr1183=) | gnomAD v4 |
6 | g.7579740C>A | CA448714283 | DSP | c.3550C>A (p.Arg1184=) | |
6 | g.7579740C= | CA1608614677 | DSP | c.3550C= (p.Arg1184=) | |
6 | g.7579740C>G | CA362684316 | DSP | c.3550C>G (p.Arg1184Gly) | |
6 | g.7579740C>T | CA038373 | DSP | c.3550C>T (p.Arg1184Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579741G>A | CA038386 | DSP | c.3551G>A (p.Arg1184Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579741G>C | CA362684317 | DSP | c.3551G>C (p.Arg1184Pro) | |
6 | g.7579741G= | CA1608614688 | DSP | c.3551G= (p.Arg1184=) | |
6 | g.7579741G>T | CA362684318 | DSP | c.3551G>T (p.Arg1184Leu) | |
6 | g.7579742G>A | CA448714284 | DSP | c.3552G>A (p.Arg1184=) | |
6 | g.7579742G>C | CA448714285 | DSP | c.3552G>C (p.Arg1184=) | |
6 | g.7579742G>T | CA448714286 | DSP | c.3552G>T (p.Arg1184=) | |
6 | g.7579743A>C | CA362684319 | DSP | c.3553A>C (p.Lys1185Gln) | |
6 | g.7579743A>G | CA362684320 | DSP | c.3553A>G (p.Lys1185Glu) | |
6 | g.7579743A>T | CA362684321 | DSP | c.3553A>T (p.Lys1185Ter) |