Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35826605T>A | CA405415165 | NPHS1 | c.3635A>T (p.Asp1212Val) c.3515A>T (p.Asp1172Val) | |
19 | g.35826605T>C | CA405415166 | NPHS1 | c.3635A>G (p.Asp1212Gly) c.3515A>G (p.Asp1172Gly) | |
19 | g.35826605T>G | CA405415167 | NPHS1 | c.3635A>C (p.Asp1212Ala) c.3515A>C (p.Asp1172Ala) | |
19 | g.35826606C>A | CA405415168 | NPHS1 | c.3634G>T (p.Asp1212Tyr) c.3514G>T (p.Asp1172Tyr) | |
19 | g.35826606C>G | CA405415169 | NPHS1 | c.3634G>C (p.Asp1212His) c.3514G>C (p.Asp1172His) | |
19 | g.35826606C>T | CA405415170 | NPHS1 | c.3634G>A (p.Asp1212Asn) c.3514G>A (p.Asp1172Asn) | COSMIC |
19 | g.35826607C>A | CA405415171 | NPHS1 | c.3633G>T (p.Gln1211His) c.3513G>T (p.Gln1171His) | |
19 | g.35826607C= | CA2333840045 | NPHS1 | c.3633G= (p.Gln1211=) c.3513G= (p.Gln1171=) | |
19 | g.35826607C>G | CA405415172 | NPHS1 | c.3633G>C (p.Gln1211His) c.3513G>C (p.Gln1171His) | |
19 | g.35826607C>T | CA507091350 | NPHS1 | c.3633G>A (p.Gln1211=) c.3513G>A (p.Gln1171=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826608T>A | CA405415173 | NPHS1 | c.3632A>T (p.Gln1211Leu) c.3512A>T (p.Gln1171Leu) | |
19 | g.35826608T>C | CA405415174 | NPHS1 | c.3632A>G (p.Gln1211Arg) c.3512A>G (p.Gln1171Arg) | |
19 | g.35826608T>G | CA405415175 | NPHS1 | c.3632A>C (p.Gln1211Pro) c.3512A>C (p.Gln1171Pro) | |
19 | g.35826609G>A | CA405415177 | NPHS1 | c.3631C>T (p.Gln1211Ter) c.3511C>T (p.Gln1171Ter) | |
19 | g.35826609G>C | CA405415178 | NPHS1 | c.3631C>G (p.Gln1211Glu) c.3511C>G (p.Gln1171Glu) | dbSNP gnomAD v2 |
19 | g.35826609G= | CA2333840046 | NPHS1 | c.3631C= (p.Gln1211=) c.3511C= (p.Gln1171=) | |
19 | g.35826609G>T | CA405415176 | NPHS1 | c.3631C>A (p.Gln1211Lys) c.3511C>A (p.Gln1171Lys) | |
19 | g.35826610A= | CA2333840047 | NPHS1 | c.3630T= (p.Tyr1210=) c.3510T= (p.Tyr1170=) | |
19 | g.35826610A>C | CA405415179 | NPHS1 | c.3630T>G (p.Tyr1210Ter) c.3510T>G (p.Tyr1170Ter) | |
19 | g.35826610A>G | CA507091351 | NPHS1 | c.3630T>C (p.Tyr1210=) c.3510T>C (p.Tyr1170=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826610A>T | CA405415180 | NPHS1 | c.3630T>A (p.Tyr1210Ter) c.3510T>A (p.Tyr1170Ter) | |
19 | g.35826611T>A | CA405415181 | NPHS1 | c.3629A>T (p.Tyr1210Phe) c.3509A>T (p.Tyr1170Phe) | |
19 | g.35826611T>C | CA405415182 | NPHS1 | c.3629A>G (p.Tyr1210Cys) c.3509A>G (p.Tyr1170Cys) | |
19 | g.35826611T>G | CA9389680 | NPHS1 | c.3629A>C (p.Tyr1210Ser) c.3509A>C (p.Tyr1170Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826611T= | CA2333840048 | NPHS1 | c.3629A= (p.Tyr1210=) c.3509A= (p.Tyr1170=) | |
19 | g.35826612A>C | CA405415183 | NPHS1 | c.3628T>G (p.Tyr1210Asp) c.3508T>G (p.Tyr1170Asp) | |
19 | g.35826612A>G | CA405415184 | NPHS1 | c.3628T>C (p.Tyr1210His) c.3508T>C (p.Tyr1170His) | gnomAD v4 |
19 | g.35826612A>T | CA405415185 | NPHS1 | c.3628T>A (p.Tyr1210Asn) c.3508T>A (p.Tyr1170Asn) | |
19 | g.35826613T>A | CA507091355 | NPHS1 | c.3627A>T (p.Thr1209=) c.3507A>T (p.Thr1169=) | |
19 | g.35826613T>C | CA9389681 | NPHS1 | c.3627A>G (p.Thr1209=) c.3507A>G (p.Thr1169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826613T>G | CA507091356 | NPHS1 | c.3627A>C (p.Thr1209=) c.3507A>C (p.Thr1169=) | |
19 | g.35826613T= | CA2333840049 | NPHS1 | c.3627A= (p.Thr1209=) c.3507A= (p.Thr1169=) | |
19 | g.35826614G>A | CA405415186 | NPHS1 | c.3626C>T (p.Thr1209Ile) c.3506C>T (p.Thr1169Ile) | |
19 | g.35826614G>C | CA405415187 | NPHS1 | c.3626C>G (p.Thr1209Arg) c.3506C>G (p.Thr1169Arg) | |
19 | g.35826614G>T | CA405415188 | NPHS1 | c.3626C>A (p.Thr1209Lys) c.3506C>A (p.Thr1169Lys) | |
19 | g.35826614_35826618del | CA913015893 | NPHS1 | c.3622_3626del (p.Asp1208IlefsTer9) c.3502_3506del (p.Asp1168IlefsTer9) | |
19 | g.35826614_35826618delinsGTGTC | CA2333840050 | NPHS1 | c.3622_3626delinsGACAC (p.Asp1208=) c.3502_3506delinsGACAC (p.Asp1168=) | |
19 | g.35826615T>A | CA9389682 | NPHS1 | c.3625A>T (p.Thr1209Ser) c.3505A>T (p.Thr1169Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826615T>C | CA9389683 | NPHS1 | c.3625A>G (p.Thr1209Ala) c.3505A>G (p.Thr1169Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826615T>G | CA405415189 | NPHS1 | c.3625A>C (p.Thr1209Pro) c.3505A>C (p.Thr1169Pro) | |
19 | g.35826615T= | CA2333840051 | NPHS1 | c.3625A= (p.Thr1209=) c.3505A= (p.Thr1169=) | |
19 | g.35826616_35826619del | CA632775038 | NPHS1 | c.3622_3625del (p.Asp1208HisfsTer28) c.3502_3505del (p.Asp1168HisfsTer28) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826616G>A | CA507091357 | NPHS1 | c.3624C>T (p.Asp1208=) c.3504C>T (p.Asp1168=) | |
19 | g.35826616G>C | CA405415190 | NPHS1 | c.3624C>G (p.Asp1208Glu) c.3504C>G (p.Asp1168Glu) | |
19 | g.35826616G>T | CA405415191 | NPHS1 | c.3624C>A (p.Asp1208Glu) c.3504C>A (p.Asp1168Glu) | |
19 | g.35826617T>A | CA405415192 | NPHS1 | c.3623A>T (p.Asp1208Val) c.3503A>T (p.Asp1168Val) | |
19 | g.35826617T>C | CA405415193 | NPHS1 | c.3623A>G (p.Asp1208Gly) c.3503A>G (p.Asp1168Gly) | |
19 | g.35826617T>G | CA405415194 | NPHS1 | c.3623A>C (p.Asp1208Ala) c.3503A>C (p.Asp1168Ala) | |
19 | g.35826618C>A | CA405415195 | NPHS1 | c.3622G>T (p.Asp1208Tyr) c.3502G>T (p.Asp1168Tyr) | COSMIC |
19 | g.35826618C>G | CA405415196 | NPHS1 | c.3622G>C (p.Asp1208His) c.3502G>C (p.Asp1168His) | |
19 | g.35826618C>T | CA405415197 | NPHS1 | c.3622G>A (p.Asp1208Asn) c.3502G>A (p.Asp1168Asn) | |
19 | g.35826619T>A | CA405415198 | NPHS1 | c.3621A>T (p.Glu1207Asp) c.3501A>T (p.Glu1167Asp) | gnomAD v4 |
19 | g.35826619T>C | CA507091359 | NPHS1 | c.3621A>G (p.Glu1207=) c.3501A>G (p.Glu1167=) | |
19 | g.35826619T>G | CA405415199 | NPHS1 | c.3621A>C (p.Glu1207Asp) c.3501A>C (p.Glu1167Asp) | |
19 | g.35826620T>A | CA405415200 | NPHS1 | c.3620A>T (p.Glu1207Val) c.3500A>T (p.Glu1167Val) | |
19 | g.35826620T>C | CA405415201 | NPHS1 | c.3620A>G (p.Glu1207Gly) c.3500A>G (p.Glu1167Gly) | |
19 | g.35826620T>G | CA405415202 | NPHS1 | c.3620A>C (p.Glu1207Ala) c.3500A>C (p.Glu1167Ala) | |
19 | g.35826620_35826621del | CA913015894 | NPHS1 | c.3619_3620del (p.Glu1207ArgfsTer11) c.3499_3500del (p.Glu1167ArgfsTer11) | |
19 | g.35826620_35826621delinsTC | CA2333840052 | NPHS1 | c.3619_3620delinsGA (p.Glu1207=) c.3499_3500delinsGA (p.Glu1167=) | |
19 | g.35826621del | CA632775039 | NPHS1 | c.3619del (p.Glu1207LysfsTer30) c.3499del (p.Glu1167LysfsTer30) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826621C>A | CA405415204 | NPHS1 | c.3619G>T (p.Glu1207Ter) c.3499G>T (p.Glu1167Ter) | COSMIC |
19 | g.35826621C>G | CA405415205 | NPHS1 | c.3619G>C (p.Glu1207Gln) c.3499G>C (p.Glu1167Gln) | |
19 | g.35826621C>T | CA405415203 | NPHS1 | c.3619G>A (p.Glu1207Lys) c.3499G>A (p.Glu1167Lys) | |
19 | g.35826622A>C | CA507091360 | NPHS1 | c.3618T>G (p.Pro1206=) c.3498T>G (p.Pro1166=) | |
19 | g.35826622A>G | CA507091362 | NPHS1 | c.3618T>C (p.Pro1206=) c.3498T>C (p.Pro1166=) | |
19 | g.35826622A>T | CA507091361 | NPHS1 | c.3618T>A (p.Pro1206=) c.3498T>A (p.Pro1166=) | |
19 | g.35826623G>A | CA405415206 | NPHS1 | c.3617C>T (p.Pro1206Leu) c.3497C>T (p.Pro1166Leu) | |
19 | g.35826623G>C | CA405415207 | NPHS1 | c.3617C>G (p.Pro1206Arg) c.3497C>G (p.Pro1166Arg) | |
19 | g.35826623G>T | CA405415208 | NPHS1 | c.3617C>A (p.Pro1206His) c.3497C>A (p.Pro1166His) | |
19 | g.35826624G>A | CA405415209 | NPHS1 | c.3616C>T (p.Pro1206Ser) c.3496C>T (p.Pro1166Ser) | |
19 | g.35826624G>C | CA405415210 | NPHS1 | c.3616C>G (p.Pro1206Ala) c.3496C>G (p.Pro1166Ala) | |
19 | g.35826624G>T | CA405415211 | NPHS1 | c.3616C>A (p.Pro1206Thr) c.3496C>A (p.Pro1166Thr) | |
19 | g.35826625C>A | CA405415212 | NPHS1 | c.3615G>T (p.Trp1205Cys) c.3495G>T (p.Trp1165Cys) | |
19 | g.35826625C>G | CA405415213 | NPHS1 | c.3615G>C (p.Trp1205Cys) c.3495G>C (p.Trp1165Cys) | |
19 | g.35826625C>T | CA405415214 | NPHS1 | c.3615G>A (p.Trp1205Ter) c.3495G>A (p.Trp1165Ter) | COSMIC |
19 | g.35826626C>A | CA405415215 | NPHS1 | c.3614G>T (p.Trp1205Leu) c.3494G>T (p.Trp1165Leu) | |
19 | g.35826626C>G | CA405415216 | NPHS1 | c.3614G>C (p.Trp1205Ser) c.3494G>C (p.Trp1165Ser) | |
19 | g.35826626C>T | CA405415217 | NPHS1 | c.3614G>A (p.Trp1205Ter) c.3494G>A (p.Trp1165Ter) | |
19 | g.35826626_35826627del | CA913015895 | NPHS1 | c.3613_3614del (p.Trp1205AlafsTer2) c.3493_3494del (p.Trp1165AlafsTer2) | |
19 | g.35826626_35826627delinsCA | CA2333839478 | NPHS1 | c.3613_3614delinsTG (p.Trp1205=) c.3493_3494delinsTG (p.Trp1165=) | |
19 | g.35826627del | CA658824407 | NPHS1 | c.3613del (p.Trp1205GlyfsTer?) c.3493del (p.Trp1165GlyfsTer?) | ClinVar dbSNP |
19 | g.35826627A>C | CA405415219 | NPHS1 | c.3613T>G (p.Trp1205Gly) c.3493T>G (p.Trp1165Gly) | |
19 | g.35826627A>G | CA405415220 | NPHS1 | c.3613T>C (p.Trp1205Arg) c.3493T>C (p.Trp1165Arg) | |
19 | g.35826627A>T | CA405415218 | NPHS1 | c.3613T>A (p.Trp1205Arg) c.3493T>A (p.Trp1165Arg) | |
19 | g.35826628G>A | CA507091363 | NPHS1 | c.3612C>T (p.His1204=) c.3492C>T (p.His1164=) | |
19 | g.35826628G>C | CA405415221 | NPHS1 | c.3612C>G (p.His1204Gln) c.3492C>G (p.His1164Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826628G= | CA2333839480 | NPHS1 | c.3612C= (p.His1204=) c.3492C= (p.His1164=) | |
19 | g.35826628G>T | CA405415222 | NPHS1 | c.3612C>A (p.His1204Gln) c.3492C>A (p.His1164Gln) | |
19 | g.35826629T>A | CA405415223 | NPHS1 | c.3611A>T (p.His1204Leu) c.3491A>T (p.His1164Leu) | gnomAD v4 |
19 | g.35826629T>C | CA9389684 | NPHS1 | c.3611A>G (p.His1204Arg) c.3491A>G (p.His1164Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826629T>G | CA405415224 | NPHS1 | c.3611A>C (p.His1204Pro) c.3491A>C (p.His1164Pro) | |
19 | g.35826629T= | CA2333839481 | NPHS1 | c.3611A= (p.His1204=) c.3491A= (p.His1164=) | |
19 | g.35826630G>A | CA405415227 | NPHS1 | c.3610C>T (p.His1204Tyr) c.3490C>T (p.His1164Tyr) | |
19 | g.35826630G>C | CA405415225 | NPHS1 | c.3610C>G (p.His1204Asp) c.3490C>G (p.His1164Asp) | |
19 | g.35826630G>T | CA405415226 | NPHS1 | c.3610C>A (p.His1204Asn) c.3490C>A (p.His1164Asn) | |
19 | g.35826631G>A | CA507091366 | NPHS1 | c.3609C>T (p.Leu1203=) c.3489C>T (p.Leu1163=) | |
19 | g.35826631G>C | CA507091364 | NPHS1 | c.3609C>G (p.Leu1203=) c.3489C>G (p.Leu1163=) | |
19 | g.35826631G>T | CA507091365 | NPHS1 | c.3609C>A (p.Leu1203=) c.3489C>A (p.Leu1163=) | |
19 | g.35826632A>C | CA405415228 | NPHS1 | c.3608T>G (p.Leu1203Arg) c.3488T>G (p.Leu1163Arg) | |
19 | g.35826632A>G | CA405415229 | NPHS1 | c.3608T>C (p.Leu1203Pro) c.3488T>C (p.Leu1163Pro) | |
19 | g.35826632A>T | CA405415230 | NPHS1 | c.3608T>A (p.Leu1203His) c.3488T>A (p.Leu1163His) | |
19 | g.35826633G>A | CA405415231 | NPHS1 | c.3607C>T (p.Leu1203Phe) c.3487C>T (p.Leu1163Phe) | gnomAD v4 |
19 | g.35826633G>C | CA405415232 | NPHS1 | c.3607C>G (p.Leu1203Val) c.3487C>G (p.Leu1163Val) | |
19 | g.35826633G>T | CA405415233 | NPHS1 | c.3607C>A (p.Leu1203Ile) c.3487C>A (p.Leu1163Ile) | |
19 | g.35826639_35826646del | CA2695198172 | NPHS1 | c.3600_3607del c.3480_3487del | ClinVar |
19 | g.35826634G>A | CA507091367 | NPHS1 | c.3606C>T (p.Asp1202=) c.3486C>T (p.Asp1162=) | |
19 | g.35826634G>C | CA405415235 | NPHS1 | c.3606C>G (p.Asp1202Glu) c.3486C>G (p.Asp1162Glu) | |
19 | g.35826634G>T | CA405415234 | NPHS1 | c.3606C>A (p.Asp1202Glu) c.3486C>A (p.Asp1162Glu) | |
19 | g.35826635T>A | CA405415236 | NPHS1 | c.3605A>T (p.Asp1202Val) c.3485A>T (p.Asp1162Val) | |
19 | g.35826635T>C | CA405415238 | NPHS1 | c.3605A>G (p.Asp1202Gly) c.3485A>G (p.Asp1162Gly) | |
19 | g.35826635T>G | CA405415237 | NPHS1 | c.3605A>C (p.Asp1202Ala) c.3485A>C (p.Asp1162Ala) | |
19 | g.35826636C>A | CA405415239 | NPHS1 | c.3604G>T (p.Asp1202Tyr) c.3484G>T (p.Asp1162Tyr) | |
19 | g.35826636C>G | CA405415241 | NPHS1 | c.3604G>C (p.Asp1202His) c.3484G>C (p.Asp1162His) | |
19 | g.35826636C>T | CA405415240 | NPHS1 | c.3604G>A (p.Asp1202Asn) c.3484G>A (p.Asp1162Asn) | gnomAD v4 COSMIC |
19 | g.35826637C>A | CA405415242 | NPHS1 | c.3603G>T (p.Trp1201Cys) c.3483G>T (p.Trp1161Cys) | |
19 | g.35826637C>G | CA405415244 | NPHS1 | c.3603G>C (p.Trp1201Cys) c.3483G>C (p.Trp1161Cys) | |
19 | g.35826637C>T | CA405415243 | NPHS1 | c.3603G>A (p.Trp1201Ter) c.3483G>A (p.Trp1161Ter) | |
19 | g.35826638C>A | CA405415245 | NPHS1 | c.3602G>T (p.Trp1201Leu) c.3482G>T (p.Trp1161Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826638C= | CA2333839482 | NPHS1 | c.3602G= (p.Trp1201=) c.3482G= (p.Trp1161=) | |
19 | g.35826638C>G | CA405415247 | NPHS1 | c.3602G>C (p.Trp1201Ser) c.3482G>C (p.Trp1161Ser) | |
19 | g.35826638C>T | CA405415246 | NPHS1 | c.3602G>A (p.Trp1201Ter) c.3482G>A (p.Trp1161Ter) | |
19 | g.35826639A>C | CA405415248 | NPHS1 | c.3601T>G (p.Trp1201Gly) c.3481T>G (p.Trp1161Gly) | |
19 | g.35826639A>G | CA405415249 | NPHS1 | c.3601T>C (p.Trp1201Arg) c.3481T>C (p.Trp1161Arg) | gnomAD v4 |
19 | g.35826639A>T | CA405415250 | NPHS1 | c.3601T>A (p.Trp1201Arg) c.3481T>A (p.Trp1161Arg) | |
19 | g.35826640G>A | CA507091368 | NPHS1 | c.3600C>T (p.Pro1200=) c.3480C>T (p.Pro1160=) | |
19 | g.35826640G>C | CA507091369 | NPHS1 | c.3600C>G (p.Pro1200=) c.3480C>G (p.Pro1160=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826640G= | CA2333839483 | NPHS1 | c.3600C= (p.Pro1200=) c.3480C= (p.Pro1160=) | |
19 | g.35826640G>T | CA507091370 | NPHS1 | c.3600C>A (p.Pro1200=) c.3480C>A (p.Pro1160=) | |
19 | g.35826641G>A | CA405415251 | NPHS1 | c.3599C>T (p.Pro1200Leu) c.3479C>T (p.Pro1160Leu) | |
19 | g.35826641G>C | CA9389686 | NPHS1 | c.3599C>G (p.Pro1200Arg) c.3479C>G (p.Pro1160Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826641G= | CA2333839485 | NPHS1 | c.3599C= (p.Pro1200=) c.3479C= (p.Pro1160=) | |
19 | g.35826641G>T | CA9389685 | NPHS1 | c.3599C>A (p.Pro1200His) c.3479C>A (p.Pro1160His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826642G>A | CA9389687 | NPHS1 | c.3598C>T (p.Pro1200Ser) c.3478C>T (p.Pro1160Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826642G>C | CA405415252 | NPHS1 | c.3598C>G (p.Pro1200Ala) c.3478C>G (p.Pro1160Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826642G= | CA2333839494 | NPHS1 | c.3598C= (p.Pro1200=) c.3478C= (p.Pro1160=) | |
19 | g.35826642G>T | CA405415253 | NPHS1 | c.3598C>A (p.Pro1200Thr) c.3478C>A (p.Pro1160Thr) | |
19 | g.35826643T>A | CA507091371 | NPHS1 | c.3597A>T (p.Gly1199=) c.3477A>T (p.Gly1159=) | |
19 | g.35826643T>C | CA507091372 | NPHS1 | c.3597A>G (p.Gly1199=) c.3477A>G (p.Gly1159=) | |
19 | g.35826643T>G | CA507091373 | NPHS1 | c.3597A>C (p.Gly1199=) c.3477A>C (p.Gly1159=) | dbSNP |
19 | g.35826644C>A | CA405415254 | NPHS1 | c.3596G>T (p.Gly1199Val) c.3476G>T (p.Gly1159Val) | |
19 | g.35826644C= | CA2333839498 | NPHS1 | c.3596G= (p.Gly1199=) c.3476G= (p.Gly1159=) | |
19 | g.35826644C>G | CA9389688 | NPHS1 | c.3596G>C (p.Gly1199Ala) c.3476G>C (p.Gly1159Ala) | dbSNP ExAC gnomAD v2 |
19 | g.35826644C>T | CA405415255 | NPHS1 | c.3596G>A (p.Gly1199Glu) c.3476G>A (p.Gly1159Glu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826645C>A | CA405415258 | NPHS1 | c.3595G>T (p.Gly1199Ter) c.3475G>T (p.Gly1159Ter) | |
19 | g.35826645C>G | CA405415256 | NPHS1 | c.3595G>C (p.Gly1199Arg) c.3475G>C (p.Gly1159Arg) | |
19 | g.35826645C>T | CA405415257 | NPHS1 | c.3595G>A (p.Gly1199Arg) c.3475G>A (p.Gly1159Arg) | gnomAD v4 |
19 | g.35826646C>A | CA405415259 | NPHS1 | c.3595-1G>T (n.3595-1G>T) c.3475-1G>T (n.3475-1G>T) | |
19 | g.35826646C>G | CA405415260 | NPHS1 | c.3595-1G>C (n.3595-1G>C) c.3475-1G>C (n.3475-1G>C) | |
19 | g.35826646C>T | CA405415261 | NPHS1 | c.3595-1G>A (n.3595-1G>A) c.3475-1G>A (n.3475-1G>A) | COSMIC |
19 | g.35826646_35826647insATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCT | CA2814253202 | NPHS1 | c.3595-2_3595-1insAGATGAGGATATGGCCTTCCCTGGGCACTTGTATGATGAGGTAGAAAGAACGTACCCCCCGTCTGGAGCCTGGGGACCCCTCTACGATGAAGTGCAGAT (n.3595-2_3595-1insAGATGAGGATATGGCCTTCCCTGGGCACTTGTATGATGAGGTAGAAAGAACGTACCCCCCGTCTGGAGCCTGGGGACCCCTCTACGATGAAGTGCAGAT) c.3475-2_3475-1insAGATGAGGATATGGCCTTCCCTGGGCACTTGTATGATGAGGTAGAAAGAACGTACCCCCCGTCTGGAGCCTGGGGACCCCTCTACGATGAAGTGCAGAT (n.3475-2_3475-1insAGATGAGGATATGGCCTTCCCTGGGCACTTGTATGATGAGGTAGAAAGAACGTACCCCCCGTCTGGAGCCTGGGGACCCCTCTACGATGAAGTGCAGAT) | |
19 | g.35826647T>A | CA405415262 | NPHS1 | c.3595-2A>T (n.3595-2A>T) c.3475-2A>T (n.3475-2A>T) | |
19 | g.35826647T>C | CA250234 | NPHS1 | c.3595-2A>G (n.3595-2A>G) c.3475-2A>G (n.3475-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826647T>G | CA405415263 | NPHS1 | c.3595-2A>C (n.3595-2A>C) c.3475-2A>C (n.3475-2A>C) | |
19 | g.35826647T= | CA2333839500 | NPHS1 | c.3595-2A= (n.3595-2A=) c.3475-2A= (n.3475-2A=) | |
19 | g.35826647dup | CA2584601234 | NPHS1 | c.3595-2dup (n.3595-2dup) c.3475-2dup (n.3475-2dup) | gnomAD v4 |
19 | g.35826648G>A | CA2584601235 | NPHS1 | c.3595-3C>T (n.3595-3C>T) c.3475-3C>T (n.3475-3C>T) | gnomAD v4 |
19 | g.35826648G>C | CA2814253209 | NPHS1 | c.3595-3C>G (n.3595-3C>G) c.3475-3C>G (n.3475-3C>G) | |
19 | g.35826649A= | CA2333839502 | NPHS1 | c.3595-4T= (n.3595-4T=) c.3475-4T= (n.3475-4T=) | |
19 | g.35826649A>T | CA9389689 | NPHS1 | c.3595-4T>A (n.3595-4T>A) c.3475-4T>A (n.3475-4T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826650C>A | CA995489143 | NPHS1 | c.3595-5G>T (n.3595-5G>T) c.3475-5G>T (n.3475-5G>T) | gnomAD v3 gnomAD v4 |
19 | g.35826650C= | CA2333839505 | NPHS1 | c.3595-5G= (n.3595-5G=) c.3475-5G= (n.3475-5G=) | |
19 | g.35826650C>T | CA632775040 | NPHS1 | c.3595-5G>A (n.3595-5G>A) c.3475-5G>A (n.3475-5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826650_35826651delinsCA | CA2333839504 | NPHS1 | c.3595-6_3595-5delinsTG (n.3595-6_3595-5delinsTG) c.3475-6_3475-5delinsTG (n.3475-6_3475-5delinsTG) | |
19 | g.35826651del | CA2333839507 | NPHS1 | c.3595-6del (n.3595-6del) c.3475-6del (n.3475-6del) | dbSNP |
19 | g.35826652G>A | CA2580096846 | NPHS1 | c.3595-7C>T (n.3595-7C>T) c.3475-7C>T (n.3475-7C>T) | ClinVar gnomAD v4 |
19 | g.35826652_35826654del | CA995489177 | NPHS1 | c.3595-9_3595-7del (n.3595-9_3595-7del) c.3475-9_3475-7del (n.3475-9_3475-7del) | gnomAD v3 gnomAD v4 |
19 | g.35826653G>A | CA2573156254 | NPHS1 | c.3595-8C>T (n.3595-8C>T) c.3475-8C>T (n.3475-8C>T) | ClinVar dbSNP |
19 | g.35826654C>A | CA9389690 | NPHS1 | c.3595-9G>T (n.3595-9G>T) c.3475-9G>T (n.3475-9G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826654C= | CA2333839510 | NPHS1 | c.3595-9G= (n.3595-9G=) c.3475-9G= (n.3475-9G=) | |
19 | g.35826654C>G | CA881817108 | NPHS1 | c.3595-9G>C (n.3595-9G>C) c.3475-9G>C (n.3475-9G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826654_35826655delinsCA | CA2333839512 | NPHS1 | c.3595-10_3595-9delinsTG (n.3595-10_3595-9delinsTG) c.3475-10_3475-9delinsTG (n.3475-10_3475-9delinsTG) | |
19 | g.35826659del | CA632775041 | NPHS1 | c.3595-10del (n.3595-10del) c.3475-10del (n.3475-10del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826657A= | CA2333839515 | NPHS1 | c.3595-12T= (n.3595-12T=) c.3475-12T= (n.3475-12T=) | |
19 | g.35826657A>G | CA9389691 | NPHS1 | c.3595-12T>C (n.3595-12T>C) c.3475-12T>C (n.3475-12T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826659A>G | CA2697556461 | NPHS1 | c.3595-14T>C (n.3595-14T>C) c.3475-14T>C (n.3475-14T>C) | ClinVar |
19 | g.35826660G>T | CA2584601236 | NPHS1 | c.3595-15C>A (n.3595-15C>A) c.3475-15C>A (n.3475-15C>A) | gnomAD v4 |
19 | g.35826665G>A | CA307827469 | NPHS1 | c.3595-20C>T (n.3595-20C>T) c.3475-20C>T (n.3475-20C>T) | dbSNP gnomAD v4 |
19 | g.35826665G= | CA2333839517 | NPHS1 | c.3595-20C= (n.3595-20C=) c.3475-20C= (n.3475-20C=) | |
19 | g.35826668A= | CA2333839520 | NPHS1 | c.3595-23T= (n.3595-23T=) c.3475-23T= (n.3475-23T=) | |
19 | g.35826668A>C | CA632775042 | NPHS1 | c.3595-23T>G (n.3595-23T>G) c.3475-23T>G (n.3475-23T>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826668A>G | CA9389692 | NPHS1 | c.3595-23T>C (n.3595-23T>C) c.3475-23T>C (n.3475-23T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826669G>C | CA307827473 | NPHS1 | c.3595-24C>G (n.3595-24C>G) c.3475-24C>G (n.3475-24C>G) | dbSNP |
19 | g.35826669G= | CA2333839522 | NPHS1 | c.3595-24C= (n.3595-24C=) c.3475-24C= (n.3475-24C=) | |
19 | g.35826672C>A | CA2584601237 | NPHS1 | c.3595-27G>T (n.3595-27G>T) c.3475-27G>T (n.3475-27G>T) | gnomAD v4 |
19 | g.35826672C= | CA2333839525 | NPHS1 | c.3595-27G= (n.3595-27G=) c.3475-27G= (n.3475-27G=) | |
19 | g.35826672C>G | CA9389693 | NPHS1 | c.3595-27G>C (n.3595-27G>C) c.3475-27G>C (n.3475-27G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826673C>A | CA9389694 | NPHS1 | c.3595-28G>T (n.3595-28G>T) c.3475-28G>T (n.3475-28G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826673C= | CA2333839529 | NPHS1 | c.3595-28G= (n.3595-28G=) c.3475-28G= (n.3475-28G=) | |
19 | g.35826674A= | CA2333839531 | NPHS1 | c.3595-29T= (n.3595-29T=) c.3475-29T= (n.3475-29T=) | |
19 | g.35826674A>G | CA2333839532 | NPHS1 | c.3595-29T>C (n.3595-29T>C) c.3475-29T>C (n.3475-29T>C) | dbSNP |
19 | g.35826675T>C | CA2584601238 | NPHS1 | c.3595-30A>G (n.3595-30A>G) c.3475-30A>G (n.3475-30A>G) | gnomAD v4 |
19 | g.35826677G>A | CA2576758564 | NPHS1 | c.3595-32C>T (n.3595-32C>T) c.3475-32C>T (n.3475-32C>T) | gnomAD v4 |
19 | g.35826678A>G | CA2814253216 | NPHS1 | c.3595-33T>C (n.3595-33T>C) c.3475-33T>C (n.3475-33T>C) | |
19 | g.35826681G>A | CA2581381833 | NPHS1 | c.3595-36C>T (n.3595-36C>T) c.3475-36C>T (n.3475-36C>T) | gnomAD v4 |
19 | g.35826681G>C | CA9389695 | NPHS1 | c.3595-36C>G (n.3595-36C>G) c.3475-36C>G (n.3475-36C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826681G= | CA2333839534 | NPHS1 | c.3595-36C= (n.3595-36C=) c.3475-36C= (n.3475-36C=) | |
19 | g.35826681G>T | CA2581381832 | NPHS1 | c.3595-36C>A (n.3595-36C>A) c.3475-36C>A (n.3475-36C>A) | |
19 | g.35826682A= | CA2333839537 | NPHS1 | c.3595-37T= (n.3595-37T=) c.3475-37T= (n.3475-37T=) | |
19 | g.35826682A>G | CA9389696 | NPHS1 | c.3595-37T>C (n.3595-37T>C) c.3475-37T>C (n.3475-37T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826682A>T | CA2584601239 | NPHS1 | c.3595-37T>A (n.3595-37T>A) c.3475-37T>A (n.3475-37T>A) | gnomAD v4 |
19 | g.35826683T>C | CA2584601240 | NPHS1 | c.3595-38A>G (n.3595-38A>G) c.3475-38A>G (n.3475-38A>G) | gnomAD v4 |
19 | g.35826684G= | CA2333839540 | NPHS1 | c.3595-39C= (n.3595-39C=) c.3475-39C= (n.3475-39C=) | |
19 | g.35826684G>T | CA2333839542 | NPHS1 | c.3595-39C>A (n.3595-39C>A) c.3475-39C>A (n.3475-39C>A) | dbSNP |
19 | g.35826685C>A | CA881817110 | NPHS1 | c.3595-40G>T (n.3595-40G>T) c.3475-40G>T (n.3475-40G>T) | dbSNP |
19 | g.35826685C= | CA2333839544 | NPHS1 | c.3595-40G= (n.3595-40G=) c.3475-40G= (n.3475-40G=) | |
19 | g.35826685C>T | CA2584601241 | NPHS1 | c.3595-40G>A (n.3595-40G>A) c.3475-40G>A (n.3475-40G>A) | gnomAD v4 |
19 | g.35826686C>A | CA2576758565 | NPHS1 | c.3595-41G>T (n.3595-41G>T) c.3475-41G>T (n.3475-41G>T) | |
19 | g.35826689G>A | CA995489199 | NPHS1 | c.3595-44C>T (n.3595-44C>T) c.3475-44C>T (n.3475-44C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826689G= | CA2333839545 | NPHS1 | c.3595-44C= (n.3595-44C=) c.3475-44C= (n.3475-44C=) | |
19 | g.35826689G>T | CA2584601242 | NPHS1 | c.3595-44C>A (n.3595-44C>A) c.3475-44C>A (n.3475-44C>A) | gnomAD v4 |
19 | g.35826692G>A | CA2584601243 | NPHS1 | c.3595-47C>T (n.3595-47C>T) c.3475-47C>T (n.3475-47C>T) | gnomAD v4 |
19 | g.35826692G>T | CA2584601244 | NPHS1 | c.3595-47C>A (n.3595-47C>A) c.3475-47C>A (n.3475-47C>A) | gnomAD v4 |
19 | g.35826693G>A | CA2576758566 | NPHS1 | c.3595-48C>T (n.3595-48C>T) c.3475-48C>T (n.3475-48C>T) | gnomAD v4 |
19 | g.35826695C>A | CA9389697 | NPHS1 | c.3595-50G>T (n.3595-50G>T) c.3475-50G>T (n.3475-50G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826695C= | CA2333839546 | NPHS1 | c.3595-50G= (n.3595-50G=) c.3475-50G= (n.3475-50G=) | |
19 | g.35826696T>C | CA2584601245 | NPHS1 | c.3595-51A>G (n.3595-51A>G) c.3475-51A>G (n.3475-51A>G) | gnomAD v4 |
19 | g.35826698C>T | CA2584601246 | NPHS1 | c.3595-53G>A (n.3595-53G>A) c.3475-53G>A (n.3475-53G>A) | gnomAD v4 |
19 | g.35826699A= | CA2333839547 | NPHS1 | c.3595-54T= (n.3595-54T=) c.3475-54T= (n.3475-54T=) | |
19 | g.35826699A>G | CA881817111 | NPHS1 | c.3595-54T>C (n.3595-54T>C) c.3475-54T>C (n.3475-54T>C) | dbSNP gnomAD v4 |
19 | g.35826700T>A | CA2576758567 | NPHS1 | c.3595-55A>T (n.3595-55A>T) c.3475-55A>T (n.3475-55A>T) | gnomAD v4 |
19 | g.35826700T>C | CA307827481 | NPHS1 | c.3595-55A>G (n.3595-55A>G) c.3475-55A>G (n.3475-55A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826700T= | CA2333839548 | NPHS1 | c.3595-55A= (n.3595-55A=) c.3475-55A= (n.3475-55A=) | |
19 | g.35826701T>C | CA307827483 | NPHS1 | c.3595-56A>G (n.3595-56A>G) c.3475-56A>G (n.3475-56A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826701T= | CA2333839549 | NPHS1 | c.3595-56A= (n.3595-56A=) c.3475-56A= (n.3475-56A=) | |
19 | g.35826702G>A | CA632775043 | NPHS1 | c.3595-57C>T (n.3595-57C>T) c.3475-57C>T (n.3475-57C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826702G= | CA2333839550 | NPHS1 | c.3595-57C= (n.3595-57C=) c.3475-57C= (n.3475-57C=) | |
19 | g.35826702G>T | CA2584601247 | NPHS1 | c.3595-57C>A (n.3595-57C>A) c.3475-57C>A (n.3475-57C>A) | gnomAD v4 |
19 | g.35826705G>A | CA657129108 | NPHS1 | c.3595-60C>T (n.3595-60C>T) c.3475-60C>T (n.3475-60C>T) | COSMIC |
19 | g.35826705G= | CA2333839551 | NPHS1 | c.3595-60C= (n.3595-60C=) c.3475-60C= (n.3475-60C=) | |
19 | g.35826705G>T | CA2333839552 | NPHS1 | c.3595-60C>A (n.3595-60C>A) c.3475-60C>A (n.3475-60C>A) | dbSNP gnomAD v3 gnomAD v4 |