OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89648501_89648538del | CA2695221135 | KIF7 | c.1290_1327del (p.Arg431HisfsTer?) c.1167_1204del (p.Arg390HisfsTer?) | |
| 15 | g.89648517_89648534del | CA2510507776 | KIF7 | c.1287_1304del (p.Arg430_Pro435del) c.1164_1181del (p.Arg389_Pro394del) c.*823_*840del (n.*823_*840del) | |
| 15 | g.89648521C>A | CA7728582 | KIF7 | c.1300G>T (p.Gly434Cys) c.1177G>T (p.Gly393Cys) c.*836G>T (n.*836G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648521C= | CA2194724681 | KIF7 | c.1300G= (p.Gly434=) c.1177G= (p.Gly393=) c.*836G= (n.*836G=) | |
| 15 | g.89648521C>G | CA393772061 | KIF7 | c.1300G>C (p.Gly434Arg) c.1177G>C (p.Gly393Arg) c.*836G>C (n.*836G>C) | |
| 15 | g.89648521C>T | CA393772063 | KIF7 | c.1300G>A (p.Gly434Ser) c.1177G>A (p.Gly393Ser) c.*836G>A (n.*836G>A) | |
| 15 | g.89648522T>A | CA492293099 | KIF7 | c.1299A>T (p.Pro433=) c.1176A>T (p.Pro392=) c.*835A>T (n.*835A>T) | |
| 15 | g.89648522T>C | CA492293100 | KIF7 | c.1299A>G (p.Pro433=) c.1176A>G (p.Pro392=) c.*835A>G (n.*835A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648522T>G | CA492293101 | KIF7 | c.1299A>C (p.Pro433=) c.1176A>C (p.Pro392=) c.*835A>C (n.*835A>C) | gnomAD v4 |
| 15 | g.89648522T= | CA2194724685 | KIF7 | c.1299A= (p.Pro433=) c.1176A= (p.Pro392=) c.*835A= (n.*835A=) | |
| 15 | g.89648522_89648523delinsTG | CA2194724683 | KIF7 | c.1298_1299delinsCA (p.Pro433=) c.1175_1176delinsCA (p.Pro392=) c.*834_*835delinsCA (n.*834_*835delinsCA) | |
| 15 | g.89648523G>A | CA393772066 | KIF7 | c.1298C>T (p.Pro433Leu) c.1175C>T (p.Pro392Leu) c.*834C>T (n.*834C>T) | dbSNP gnomAD v4 |
| 15 | g.89648523G>C | CA393772068 | KIF7 | c.1298C>G (p.Pro433Arg) c.1175C>G (p.Pro392Arg) c.*834C>G (n.*834C>G) | |
| 15 | g.89648523G= | CA2194724687 | KIF7 | c.1298C= (p.Pro433=) c.1175C= (p.Pro392=) c.*834C= (n.*834C=) | |
| 15 | g.89648523G>T | CA393772070 | KIF7 | c.1298C>A (p.Pro433Gln) c.1175C>A (p.Pro392Gln) c.*834C>A (n.*834C>A) | gnomAD v4 |
| 15 | g.89648526del | CA619858355 | KIF7 | c.1298del (p.Pro433GlnfsTer?) c.1175del (p.Pro392GlnfsTer?) c.*834del (n.*834del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648524G>A | CA393772073 | KIF7 | c.1297C>T (p.Pro433Ser) c.1174C>T (p.Pro392Ser) c.*833C>T (n.*833C>T) | gnomAD v4 |
| 15 | g.89648524G>C | CA393772076 | KIF7 | c.1297C>G (p.Pro433Ala) c.1174C>G (p.Pro392Ala) c.*833C>G (n.*833C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648524G= | CA2194724690 | KIF7 | c.1297C= (p.Pro433=) c.1174C= (p.Pro392=) c.*833C= (n.*833C=) | |
| 15 | g.89648524G>T | CA393772078 | KIF7 | c.1297C>A (p.Pro433Thr) c.1174C>A (p.Pro392Thr) c.*833C>A (n.*833C>A) | dbSNP gnomAD v4 |
| 15 | g.89648525G>A | CA492293105 | KIF7 | c.1296C>T (p.Ala432=) c.1173C>T (p.Ala391=) c.*832C>T (n.*832C>T) | gnomAD v4 |
| 15 | g.89648525G>C | CA492293104 | KIF7 | c.1296C>G (p.Ala432=) c.1173C>G (p.Ala391=) c.*832C>G (n.*832C>G) | |
| 15 | g.89648525G>T | CA492293103 | KIF7 | c.1296C>A (p.Ala432=) c.1173C>A (p.Ala391=) c.*832C>A (n.*832C>A) | gnomAD v4 |
| 15 | g.89648526G>A | CA393772080 | KIF7 | c.1295C>T (p.Ala432Val) c.1172C>T (p.Ala391Val) c.*831C>T (n.*831C>T) | gnomAD v4 |
| 15 | g.89648526G>C | CA393772083 | KIF7 | c.1295C>G (p.Ala432Gly) c.1172C>G (p.Ala391Gly) c.*831C>G (n.*831C>G) | gnomAD v4 |
| 15 | g.89648526G>T | CA393772082 | KIF7 | c.1295C>A (p.Ala432Asp) c.1172C>A (p.Ala391Asp) c.*831C>A (n.*831C>A) | gnomAD v4 |
| 15 | g.89648527C>A | CA393772087 | KIF7 | c.1294G>T (p.Ala432Ser) c.1171G>T (p.Ala391Ser) c.*830G>T (n.*830G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.89648527C>G | CA393772088 | KIF7 | c.1294G>C (p.Ala432Pro) c.1171G>C (p.Ala391Pro) c.*830G>C (n.*830G>C) | gnomAD v4 |
| 15 | g.89648527C>T | CA393772091 | KIF7 | c.1294G>A (p.Ala432Thr) c.1171G>A (p.Ala391Thr) c.*830G>A (n.*830G>A) | gnomAD v4 COSMIC |
| 15 | g.89648528G>A | CA492293114 | KIF7 | c.1293C>T (p.Arg431=) c.1170C>T (p.Arg390=) c.*829C>T (n.*829C>T) | gnomAD v4 |
| 15 | g.89648528G>C | CA492293112 | KIF7 | c.1293C>G (p.Arg431=) c.1170C>G (p.Arg390=) c.*829C>G (n.*829C>G) | |
| 15 | g.89648528G= | CA2194724693 | KIF7 | c.1293C= (p.Arg431=) c.1170C= (p.Arg390=) c.*829C= (n.*829C=) | |
| 15 | g.89648528G>T | CA492293111 | KIF7 | c.1293C>A (p.Arg431=) c.1170C>A (p.Arg390=) c.*829C>A (n.*829C>A) | dbSNP gnomAD v4 |
| 15 | g.89648529C>A | CA393772095 | KIF7 | c.1292G>T (p.Arg431Leu) c.1169G>T (p.Arg390Leu) c.*828G>T (n.*828G>T) | gnomAD v4 |
| 15 | g.89648529C>G | CA393772096 | KIF7 | c.1292G>C (p.Arg431Pro) c.1169G>C (p.Arg390Pro) c.*828G>C (n.*828G>C) | |
| 15 | g.89648529C>T | CA393772098 | KIF7 | c.1292G>A (p.Arg431His) c.1169G>A (p.Arg390His) c.*828G>A (n.*828G>A) | gnomAD v4 |
| 15 | g.89648530G>A | CA393772101 | KIF7 | c.1291C>T (p.Arg431Cys) c.1168C>T (p.Arg390Cys) c.*827C>T (n.*827C>T) | gnomAD v4 |
| 15 | g.89648530G>C | CA393772103 | KIF7 | c.1291C>G (p.Arg431Gly) c.1168C>G (p.Arg390Gly) c.*827C>G (n.*827C>G) | ClinVar dbSNP |
| 15 | g.89648530G= | CA2194724694 | KIF7 | c.1291C= (p.Arg431=) c.1168C= (p.Arg390=) c.*827C= (n.*827C=) | |
| 15 | g.89648530G>T | CA393772105 | KIF7 | c.1291C>A (p.Arg431Ser) c.1168C>A (p.Arg390Ser) c.*827C>A (n.*827C>A) | gnomAD v4 |
| 15 | g.89648531C>A | CA492293119 | KIF7 | c.1290G>T (p.Arg430=) c.1167G>T (p.Arg389=) c.*826G>T (n.*826G>T) | gnomAD v4 |
| 15 | g.89648531C= | CA2194724696 | KIF7 | c.1290G= (p.Arg430=) c.1167G= (p.Arg389=) c.*826G= (n.*826G=) | |
| 15 | g.89648531C>G | CA492293121 | KIF7 | c.1290G>C (p.Arg430=) c.1167G>C (p.Arg389=) c.*826G>C (n.*826G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648531C>T | CA492293120 | KIF7 | c.1290G>A (p.Arg430=) c.1167G>A (p.Arg389=) c.*826G>A (n.*826G>A) | gnomAD v4 |
| 15 | g.89648532del | CA2805178022 | KIF7 | c.1290del (p.Arg431AlafsTer?) c.1167del (p.Arg390AlafsTer?) c.*826del (n.*826del) | |
| 15 | g.89648532C>A | CA393772110 | KIF7 | c.1289G>T (p.Arg430Leu) c.1166G>T (p.Arg389Leu) c.*825G>T (n.*825G>T) | dbSNP gnomAD v4 |
| 15 | g.89648532C= | CA2194724698 | KIF7 | c.1289G= (p.Arg430=) c.1166G= (p.Arg389=) c.*825G= (n.*825G=) | |
| 15 | g.89648532C>G | CA393772112 | KIF7 | c.1289G>C (p.Arg430Pro) c.1166G>C (p.Arg389Pro) c.*825G>C (n.*825G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648532C>T | CA393772109 | KIF7 | c.1289G>A (p.Arg430Gln) c.1166G>A (p.Arg389Gln) c.*825G>A (n.*825G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648533G>A | CA393772118 | KIF7 | c.1288C>T (p.Arg430Trp) c.1165C>T (p.Arg389Trp) c.*824C>T (n.*824C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648533G>C | CA393772115 | KIF7 | c.1288C>G (p.Arg430Gly) c.1165C>G (p.Arg389Gly) c.*824C>G (n.*824C>G) | gnomAD v4 |
| 15 | g.89648533G= | CA2194724700 | KIF7 | c.1288C= (p.Arg430=) c.1165C= (p.Arg389=) c.*824C= (n.*824C=) | |
| 15 | g.89648533G>T | CA492293128 | KIF7 | c.1288C>A (p.Arg430=) c.1165C>A (p.Arg389=) c.*824C>A (n.*824C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648534G>A | CA274582502 | KIF7 | c.1287C>T (p.Gly429=) c.1164C>T (p.Gly388=) c.*823C>T (n.*823C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648534G>C | CA492293129 | KIF7 | c.1287C>G (p.Gly429=) c.1164C>G (p.Gly388=) c.*823C>G (n.*823C>G) | gnomAD v4 |
| 15 | g.89648534G= | CA2194724702 | KIF7 | c.1287C= (p.Gly429=) c.1164C= (p.Gly388=) c.*823C= (n.*823C=) | |
| 15 | g.89648534G>T | CA492293130 | KIF7 | c.1287C>A (p.Gly429=) c.1164C>A (p.Gly388=) c.*823C>A (n.*823C>A) | gnomAD v4 |
| 15 | g.89648535C>A | CA393772121 | KIF7 | c.1286G>T (p.Gly429Val) c.1163G>T (p.Gly388Val) c.*822G>T (n.*822G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648535C= | CA2194724705 | KIF7 | c.1286G= (p.Gly429=) c.1163G= (p.Gly388=) c.*822G= (n.*822G=) | |
| 15 | g.89648535C>G | CA393772124 | KIF7 | c.1286G>C (p.Gly429Ala) c.1163G>C (p.Gly388Ala) c.*822G>C (n.*822G>C) | |
| 15 | g.89648535C>T | CA393772127 | KIF7 | c.1286G>A (p.Gly429Asp) c.1163G>A (p.Gly388Asp) c.*822G>A (n.*822G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648536C>A | CA393772130 | KIF7 | c.1285G>T (p.Gly429Cys) c.1162G>T (p.Gly388Cys) c.*821G>T (n.*821G>T) | gnomAD v4 |
| 15 | g.89648536C= | CA2194724708 | KIF7 | c.1285G= (p.Gly429=) c.1162G= (p.Gly388=) c.*821G= (n.*821G=) | |
| 15 | g.89648536C>G | CA393772133 | KIF7 | c.1285G>C (p.Gly429Arg) c.1162G>C (p.Gly388Arg) c.*821G>C (n.*821G>C) | |
| 15 | g.89648536C>T | CA7728583 | KIF7 | c.1285G>A (p.Gly429Ser) c.1162G>A (p.Gly388Ser) c.*821G>A (n.*821G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648537G>A | CA492293132 | KIF7 | c.1284C>T (p.Arg428=) c.1161C>T (p.Arg387=) c.*820C>T (n.*820C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89648537G>C | CA492293133 | KIF7 | c.1284C>G (p.Arg428=) c.1161C>G (p.Arg387=) c.*820C>G (n.*820C>G) | gnomAD v4 |
| 15 | g.89648537G>T | CA492293135 | KIF7 | c.1284C>A (p.Arg428=) c.1161C>A (p.Arg387=) c.*820C>A (n.*820C>A) | gnomAD v4 |
| 15 | g.89648538C>A | CA393772136 | KIF7 | c.1283G>T (p.Arg428Leu) c.1160G>T (p.Arg387Leu) c.*819G>T (n.*819G>T) | gnomAD v4 |
| 15 | g.89648538C>G | CA393772138 | KIF7 | c.1283G>C (p.Arg428Pro) c.1160G>C (p.Arg387Pro) c.*819G>C (n.*819G>C) | gnomAD v4 |
| 15 | g.89648538C>T | CA393772140 | KIF7 | c.1283G>A (p.Arg428His) c.1160G>A (p.Arg387His) c.*819G>A (n.*819G>A) | gnomAD v4 |
| 15 | g.89648539G>A | CA393772142 | KIF7 | c.1282C>T (p.Arg428Cys) c.1159C>T (p.Arg387Cys) c.*818C>T (n.*818C>T) | gnomAD v4 |
| 15 | g.89648539G>C | CA393772144 | KIF7 | c.1282C>G (p.Arg428Gly) c.1159C>G (p.Arg387Gly) c.*818C>G (n.*818C>G) | dbSNP gnomAD v4 |
| 15 | g.89648539G= | CA2194724715 | KIF7 | c.1282C= (p.Arg428=) c.1159C= (p.Arg387=) c.*818C= (n.*818C=) | |
| 15 | g.89648539G>T | CA020183 | KIF7 | c.1282C>A (p.Arg428Ser) c.1159C>A (p.Arg387Ser) c.*818C>A (n.*818C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648540G>A | CA492293142 | KIF7 | c.1281C>T (p.His427=) c.1158C>T (p.His386=) c.*817C>T (n.*817C>T) | gnomAD v4 |
| 15 | g.89648540G>C | CA393772150 | KIF7 | c.1281C>G (p.His427Gln) c.1158C>G (p.His386Gln) c.*817C>G (n.*817C>G) | |
| 15 | g.89648540G= | CA2194724719 | KIF7 | c.1281C= (p.His427=) c.1158C= (p.His386=) c.*817C= (n.*817C=) | |
| 15 | g.89648540G>T | CA393772147 | KIF7 | c.1281C>A (p.His427Gln) c.1158C>A (p.His386Gln) c.*817C>A (n.*817C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648541T>A | CA10642689 | KIF7 | c.1280A>T (p.His427Leu) c.1157A>T (p.His386Leu) c.*816A>T (n.*816A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648541T>C | CA393772155 | KIF7 | c.1280A>G (p.His427Arg) c.1157A>G (p.His386Arg) c.*816A>G (n.*816A>G) | gnomAD v4 |
| 15 | g.89648541T>G | CA393772157 | KIF7 | c.1280A>C (p.His427Pro) c.1157A>C (p.His386Pro) c.*816A>C (n.*816A>C) | |
| 15 | g.89648541T= | CA2194724725 | KIF7 | c.1280A= (p.His427=) c.1157A= (p.His386=) c.*816A= (n.*816A=) | |
| 15 | g.89648542G>A | CA393772160 | KIF7 | c.1279C>T (p.His427Tyr) c.1156C>T (p.His386Tyr) c.*815C>T (n.*815C>T) | gnomAD v4 |
| 15 | g.89648542G>C | CA393772164 | KIF7 | c.1279C>G (p.His427Asp) c.1156C>G (p.His386Asp) c.*815C>G (n.*815C>G) | |
| 15 | g.89648542G>T | CA393772166 | KIF7 | c.1279C>A (p.His427Asn) c.1156C>A (p.His386Asn) c.*815C>A (n.*815C>A) | gnomAD v4 |
| 15 | g.89648543G>A | CA492293147 | KIF7 | c.1278C>T (p.Ile426=) c.1155C>T (p.Ile385=) c.*814C>T (n.*814C>T) | gnomAD v4 |
| 15 | g.89648543G>C | CA393772169 | KIF7 | c.1278C>G (p.Ile426Met) c.1155C>G (p.Ile385Met) c.*814C>G (n.*814C>G) | |
| 15 | g.89648543G= | CA2194724730 | KIF7 | c.1278C= (p.Ile426=) c.1155C= (p.Ile385=) c.*814C= (n.*814C=) | |
| 15 | g.89648543G>T | CA274582515 | KIF7 | c.1278C>A (p.Ile426=) c.1155C>A (p.Ile385=) c.*814C>A (n.*814C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648544A>C | CA393772171 | KIF7 | c.1277T>G (p.Ile426Ser) c.1154T>G (p.Ile385Ser) c.*813T>G (n.*813T>G) | |
| 15 | g.89648544A>G | CA393772172 | KIF7 | c.1277T>C (p.Ile426Thr) c.1154T>C (p.Ile385Thr) c.*813T>C (n.*813T>C) | gnomAD v4 |
| 15 | g.89648544A>T | CA393772174 | KIF7 | c.1277T>A (p.Ile426Asn) c.1154T>A (p.Ile385Asn) c.*813T>A (n.*813T>A) | |
| 15 | g.89648545T>A | CA393772177 | KIF7 | c.1276A>T (p.Ile426Phe) c.1153A>T (p.Ile385Phe) c.*812A>T (n.*812A>T) | |
| 15 | g.89648545T>C | CA393772180 | KIF7 | c.1276A>G (p.Ile426Val) c.1153A>G (p.Ile385Val) c.*812A>G (n.*812A>G) | dbSNP gnomAD v4 |
| 15 | g.89648545T>G | CA393772183 | KIF7 | c.1276A>C (p.Ile426Leu) c.1153A>C (p.Ile385Leu) c.*812A>C (n.*812A>C) | gnomAD v4 |
| 15 | g.89648545T= | CA2194724734 | KIF7 | c.1276A= (p.Ile426=) c.1153A= (p.Ile385=) c.*812A= (n.*812A=) | |
| 15 | g.89648546G>A | CA274582520 | KIF7 | c.1275C>T (p.Ile425=) c.1152C>T (p.Ile384=) c.*811C>T (n.*811C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648546G>C | CA393772186 | KIF7 | c.1275C>G (p.Ile425Met) c.1152C>G (p.Ile384Met) c.*811C>G (n.*811C>G) | |
| 15 | g.89648546G= | CA2194724738 | KIF7 | c.1275C= (p.Ile425=) c.1152C= (p.Ile384=) c.*811C= (n.*811C=) | |
| 15 | g.89648546G>T | CA492293156 | KIF7 | c.1275C>A (p.Ile425=) c.1152C>A (p.Ile384=) c.*811C>A (n.*811C>A) | ClinVar gnomAD v4 |
| 15 | g.89648547A= | CA2194724740 | KIF7 | c.1274T= (p.Ile425=) c.1151T= (p.Ile384=) c.*810T= (n.*810T=) | |
| 15 | g.89648547A>C | CA393772195 | KIF7 | c.1274T>G (p.Ile425Ser) c.1151T>G (p.Ile384Ser) c.*810T>G (n.*810T>G) | |
| 15 | g.89648547A>G | CA393772190 | KIF7 | c.1274T>C (p.Ile425Thr) c.1151T>C (p.Ile384Thr) c.*810T>C (n.*810T>C) | gnomAD v4 |
| 15 | g.89648547A>T | CA274582524 | KIF7 | c.1274T>A (p.Ile425Asn) c.1151T>A (p.Ile384Asn) c.*810T>A (n.*810T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648548T>A | CA393772196 | KIF7 | c.1273A>T (p.Ile425Phe) c.1150A>T (p.Ile384Phe) c.*809A>T (n.*809A>T) | |
| 15 | g.89648548T>C | CA393772199 | KIF7 | c.1273A>G (p.Ile425Val) c.1150A>G (p.Ile384Val) c.*809A>G (n.*809A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89648548T>G | CA393772204 | KIF7 | c.1273A>C (p.Ile425Leu) c.1150A>C (p.Ile384Leu) c.*809A>C (n.*809A>C) | dbSNP |
| 15 | g.89648548T= | CA2194724743 | KIF7 | c.1273A= (p.Ile425=) c.1150A= (p.Ile384=) c.*809A= (n.*809A=) | |
| 15 | g.89648549G>A | CA492293162 | KIF7 | c.1272C>T (p.Arg424=) c.1149C>T (p.Arg383=) c.*808C>T (n.*808C>T) | gnomAD v4 |
| 15 | g.89648549G>C | CA492293163 | KIF7 | c.1272C>G (p.Arg424=) c.1149C>G (p.Arg383=) c.*808C>G (n.*808C>G) | |
| 15 | g.89648549G>T | CA492293164 | KIF7 | c.1272C>A (p.Arg424=) c.1149C>A (p.Arg383=) c.*808C>A (n.*808C>A) | gnomAD v4 |
| 15 | g.89648549dup | CA2499223143 | KIF7 | c.1272dup (p.Ile425HisfsTer?) c.1149dup (p.Ile384HisfsTer?) c.*808dup (n.*808dup) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89648550C>A | CA393772209 | KIF7 | c.1271G>T (p.Arg424Leu) c.1148G>T (p.Arg383Leu) c.*807G>T (n.*807G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648550C= | CA2194724745 | KIF7 | c.1271G= (p.Arg424=) c.1148G= (p.Arg383=) c.*807G= (n.*807G=) | |
| 15 | g.89648550C>G | CA393772207 | KIF7 | c.1271G>C (p.Arg424Pro) c.1148G>C (p.Arg383Pro) c.*807G>C (n.*807G>C) | |
| 15 | g.89648550C>T | CA393772205 | KIF7 | c.1271G>A (p.Arg424His) c.1148G>A (p.Arg383His) c.*807G>A (n.*807G>A) | gnomAD v4 |
| 15 | g.89648550_89648551delinsCG | CA2194724747 | KIF7 | c.1270_1271delinsCG (p.Arg424=) c.1147_1148delinsCG (p.Arg383=) c.*806_*807delinsCG (n.*806_*807delinsCG) | |
| 15 | g.89648551G>A | CA393772211 | KIF7 | c.1270C>T (p.Arg424Cys) c.1147C>T (p.Arg383Cys) c.*806C>T (n.*806C>T) | gnomAD v4 |
| 15 | g.89648551G>C | CA393772212 | KIF7 | c.1270C>G (p.Arg424Gly) c.1147C>G (p.Arg383Gly) c.*806C>G (n.*806C>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89648551G>T | CA393772218 | KIF7 | c.1270C>A (p.Arg424Ser) c.1147C>A (p.Arg383Ser) c.*806C>A (n.*806C>A) | gnomAD v4 |
| 15 | g.89648553del | CA2194724749 | KIF7 | c.1270del (p.Arg424AlafsTer?) c.1147del (p.Arg383AlafsTer?) c.*806del (n.*806del) | dbSNP gnomAD v4 |
| 15 | g.89648552G>A | CA492293167 | KIF7 | c.1269C>T (p.Thr423=) c.1146C>T (p.Thr382=) c.*805C>T (n.*805C>T) | dbSNP gnomAD v4 |
| 15 | g.89648552G>C | CA492293173 | KIF7 | c.1269C>G (p.Thr423=) c.1146C>G (p.Thr382=) c.*805C>G (n.*805C>G) | |
| 15 | g.89648552G= | CA2194724751 | KIF7 | c.1269C= (p.Thr423=) c.1146C= (p.Thr382=) c.*805C= (n.*805C=) | |
| 15 | g.89648552G>T | CA492293170 | KIF7 | c.1269C>A (p.Thr423=) c.1146C>A (p.Thr382=) c.*805C>A (n.*805C>A) | gnomAD v4 |
| 15 | g.89648553G>A | CA393772221 | KIF7 | c.1268C>T (p.Thr423Ile) c.1145C>T (p.Thr382Ile) c.*804C>T (n.*804C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648553G>C | CA393772224 | KIF7 | c.1268C>G (p.Thr423Ser) c.1145C>G (p.Thr382Ser) c.*804C>G (n.*804C>G) | dbSNP |
| 15 | g.89648553G= | CA2194724754 | KIF7 | c.1268C= (p.Thr423=) c.1145C= (p.Thr382=) c.*804C= (n.*804C=) | |
| 15 | g.89648553G>T | CA393772225 | KIF7 | c.1268C>A (p.Thr423Asn) c.1145C>A (p.Thr382Asn) c.*804C>A (n.*804C>A) | gnomAD v4 |
| 15 | g.89648554T>A | CA393772230 | KIF7 | c.1267A>T (p.Thr423Ser) c.1144A>T (p.Thr382Ser) c.*803A>T (n.*803A>T) | |
| 15 | g.89648554T>C | CA393772233 | KIF7 | c.1267A>G (p.Thr423Ala) c.1144A>G (p.Thr382Ala) c.*803A>G (n.*803A>G) | dbSNP gnomAD v4 |
| 15 | g.89648554T>G | CA393772232 | KIF7 | c.1267A>C (p.Thr423Pro) c.1144A>C (p.Thr382Pro) c.*803A>C (n.*803A>C) | |
| 15 | g.89648554T= | CA2194724757 | KIF7 | c.1267A= (p.Thr423=) c.1144A= (p.Thr382=) c.*803A= (n.*803A=) | |
| 15 | g.89648555C>A | CA393772234 | KIF7 | c.1266G>T (p.Glu422Asp) c.1143G>T (p.Glu381Asp) c.*802G>T (n.*802G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648555C= | CA2194724759 | KIF7 | c.1266G= (p.Glu422=) c.1143G= (p.Glu381=) c.*802G= (n.*802G=) | |
| 15 | g.89648555C>G | CA393772235 | KIF7 | c.1266G>C (p.Glu422Asp) c.1143G>C (p.Glu381Asp) c.*802G>C (n.*802G>C) | gnomAD v4 |
| 15 | g.89648555C>T | CA492293178 | KIF7 | c.1266G>A (p.Glu422=) c.1143G>A (p.Glu381=) c.*802G>A (n.*802G>A) | |
| 15 | g.89648556T>A | CA393772236 | KIF7 | c.1265A>T (p.Glu422Val) c.1142A>T (p.Glu381Val) c.*801A>T (n.*801A>T) | |
| 15 | g.89648556T>C | CA393772239 | KIF7 | c.1265A>G (p.Glu422Gly) c.1142A>G (p.Glu381Gly) c.*801A>G (n.*801A>G) | gnomAD v4 |
| 15 | g.89648556T>G | CA393772244 | KIF7 | c.1265A>C (p.Glu422Ala) c.1142A>C (p.Glu381Ala) c.*801A>C (n.*801A>C) | |
| 15 | g.89648557C>A | CA393772246 | KIF7 | c.1264G>T (p.Glu422Ter) c.1141G>T (p.Glu381Ter) c.*800G>T (n.*800G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648557C= | CA2194724762 | KIF7 | c.1264G= (p.Glu422=) c.1141G= (p.Glu381=) c.*800G= (n.*800G=) | |
| 15 | g.89648557C>G | CA393772248 | KIF7 | c.1264G>C (p.Glu422Gln) c.1141G>C (p.Glu381Gln) c.*800G>C (n.*800G>C) | |
| 15 | g.89648557C>T | CA274582530 | KIF7 | c.1264G>A (p.Glu422Lys) c.1141G>A (p.Glu381Lys) c.*800G>A (n.*800G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648558G>A | CA492293182 | KIF7 | c.1263C>T (p.Ser421=) c.1140C>T (p.Ser380=) c.*799C>T (n.*799C>T) | gnomAD v4 |
| 15 | g.89648558G>C | CA492293183 | KIF7 | c.1263C>G (p.Ser421=) c.1140C>G (p.Ser380=) c.*799C>G (n.*799C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648558G= | CA2194724765 | KIF7 | c.1263C= (p.Ser421=) c.1140C= (p.Ser380=) c.*799C= (n.*799C=) | |
| 15 | g.89648558G>T | CA492293184 | KIF7 | c.1263C>A (p.Ser421=) c.1140C>A (p.Ser380=) c.*799C>A (n.*799C>A) | gnomAD v4 |
| 15 | g.89648559G>A | CA393772252 | KIF7 | c.1262C>T (p.Ser421Phe) c.1139C>T (p.Ser380Phe) c.*798C>T (n.*798C>T) | gnomAD v4 COSMIC |
| 15 | g.89648559G>C | CA274582534 | KIF7 | c.1262C>G (p.Ser421Cys) c.1139C>G (p.Ser380Cys) c.*798C>G (n.*798C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648559G= | CA2194724770 | KIF7 | c.1262C= (p.Ser421=) c.1139C= (p.Ser380=) c.*798C= (n.*798C=) | |
| 15 | g.89648559G>T | CA393772258 | KIF7 | c.1262C>A (p.Ser421Tyr) c.1139C>A (p.Ser380Tyr) c.*798C>A (n.*798C>A) | |
| 15 | g.89648560A>C | CA393772264 | KIF7 | c.1261T>G (p.Ser421Ala) c.1138T>G (p.Ser380Ala) c.*797T>G (n.*797T>G) | |
| 15 | g.89648560A>G | CA393772267 | KIF7 | c.1261T>C (p.Ser421Pro) c.1138T>C (p.Ser380Pro) c.*797T>C (n.*797T>C) | gnomAD v4 |
| 15 | g.89648560A>T | CA393772262 | KIF7 | c.1261T>A (p.Ser421Thr) c.1138T>A (p.Ser380Thr) c.*797T>A (n.*797T>A) | |
| 15 | g.89648561G>A | CA492293190 | KIF7 | c.1260C>T (p.Arg420=) c.1137C>T (p.Arg379=) c.*796C>T (n.*796C>T) | |
| 15 | g.89648561G>C | CA492293188 | KIF7 | c.1260C>G (p.Arg420=) c.1137C>G (p.Arg379=) c.*796C>G (n.*796C>G) | gnomAD v4 |
| 15 | g.89648561G>T | CA492293189 | KIF7 | c.1260C>A (p.Arg420=) c.1137C>A (p.Arg379=) c.*796C>A (n.*796C>A) | gnomAD v4 |
| 15 | g.89648562C>A | CA393772274 | KIF7 | c.1259G>T (p.Arg420Leu) c.1136G>T (p.Arg379Leu) c.*795G>T (n.*795G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648562C= | CA2194724776 | KIF7 | c.1259G= (p.Arg420=) c.1136G= (p.Arg379=) c.*795G= (n.*795G=) | |
| 15 | g.89648562C>G | CA393772271 | KIF7 | c.1259G>C (p.Arg420Pro) c.1136G>C (p.Arg379Pro) c.*795G>C (n.*795G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648562C>T | CA393772276 | KIF7 | c.1259G>A (p.Arg420His) c.1136G>A (p.Arg379His) c.*795G>A (n.*795G>A) | gnomAD v4 |
| 15 | g.89648563G>A | CA393772280 | KIF7 | c.1258C>T (p.Arg420Cys) c.1135C>T (p.Arg379Cys) c.*794C>T (n.*794C>T) | gnomAD v4 |
| 15 | g.89648563G>C | CA393772283 | KIF7 | c.1258C>G (p.Arg420Gly) c.1135C>G (p.Arg379Gly) c.*794C>G (n.*794C>G) | |
| 15 | g.89648563G>T | CA393772285 | KIF7 | c.1258C>A (p.Arg420Ser) c.1135C>A (p.Arg379Ser) c.*794C>A (n.*794C>A) | gnomAD v4 |
| 15 | g.89648564G>A | CA492293197 | KIF7 | c.1257C>T (p.His419=) c.1134C>T (p.His378=) c.*793C>T (n.*793C>T) | |
| 15 | g.89648564G>C | CA7728584 | KIF7 | c.1257C>G (p.His419Gln) c.1134C>G (p.His378Gln) c.*793C>G (n.*793C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648564G= | CA2194724780 | KIF7 | c.1257C= (p.His419=) c.1134C= (p.His378=) c.*793C= (n.*793C=) | |
| 15 | g.89648564G>T | CA393772290 | KIF7 | c.1257C>A (p.His419Gln) c.1134C>A (p.His378Gln) c.*793C>A (n.*793C>A) | |
| 15 | g.89648565T>A | CA393772293 | KIF7 | c.1256A>T (p.His419Leu) c.1133A>T (p.His378Leu) c.*792A>T (n.*792A>T) | |
| 15 | g.89648565T>C | CA393772296 | KIF7 | c.1256A>G (p.His419Arg) c.1133A>G (p.His378Arg) c.*792A>G (n.*792A>G) | |
| 15 | g.89648565T>G | CA393772298 | KIF7 | c.1256A>C (p.His419Pro) c.1133A>C (p.His378Pro) c.*792A>C (n.*792A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648565T= | CA2194724784 | KIF7 | c.1256A= (p.His419=) c.1133A= (p.His378=) c.*792A= (n.*792A=) | |
| 15 | g.89648566G>A | CA393772303 | KIF7 | c.1255C>T (p.His419Tyr) c.1132C>T (p.His378Tyr) c.*791C>T (n.*791C>T) | dbSNP gnomAD v4 |
| 15 | g.89648566G>C | CA393772304 | KIF7 | c.1255C>G (p.His419Asp) c.1132C>G (p.His378Asp) c.*791C>G (n.*791C>G) | |
| 15 | g.89648566G= | CA2194724787 | KIF7 | c.1255C= (p.His419=) c.1132C= (p.His378=) c.*791C= (n.*791C=) | |
| 15 | g.89648566G>T | CA393772314 | KIF7 | c.1255C>A (p.His419Asn) c.1132C>A (p.His378Asn) c.*791C>A (n.*791C>A) | gnomAD v4 |
| 15 | g.89648567C>A | CA492293206 | KIF7 | c.1254G>T (p.Arg418=) c.1131G>T (p.Arg377=) c.*790G>T (n.*790G>T) | dbSNP gnomAD v4 |
| 15 | g.89648567C>G | CA492293209 | KIF7 | c.1254G>C (p.Arg418=) c.1131G>C (p.Arg377=) c.*790G>C (n.*790G>C) | gnomAD v4 |
| 15 | g.89648567C>T | CA492293207 | KIF7 | c.1254G>A (p.Arg418=) c.1131G>A (p.Arg377=) c.*790G>A (n.*790G>A) | gnomAD v4 |
| 15 | g.89648568C>A | CA7728585 | KIF7 | c.1253G>T (p.Arg418Leu) c.1130G>T (p.Arg377Leu) c.*789G>T (n.*789G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648568C= | CA2194724793 | KIF7 | c.1253G= (p.Arg418=) c.1130G= (p.Arg377=) c.*789G= (n.*789G=) | |
| 15 | g.89648568C>G | CA393772319 | KIF7 | c.1253G>C (p.Arg418Pro) c.1130G>C (p.Arg377Pro) c.*789G>C (n.*789G>C) | dbSNP gnomAD v4 |
| 15 | g.89648568C>T | CA274582541 | KIF7 | c.1253G>A (p.Arg418Gln) c.1130G>A (p.Arg377Gln) c.*789G>A (n.*789G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648569G>A | CA393772325 | KIF7 | c.1252C>T (p.Arg418Trp) c.1129C>T (p.Arg377Trp) c.*788C>T (n.*788C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648569G>C | CA393772329 | KIF7 | c.1252C>G (p.Arg418Gly) c.1129C>G (p.Arg377Gly) c.*788C>G (n.*788C>G) | |
| 15 | g.89648569G= | CA2194724802 | KIF7 | c.1252C= (p.Arg418=) c.1129C= (p.Arg377=) c.*788C= (n.*788C=) | |
| 15 | g.89648569G>T | CA492293214 | KIF7 | c.1252C>A (p.Arg418=) c.1129C>A (p.Arg377=) c.*788C>A (n.*788C>A) | gnomAD v4 |
| 15 | g.89648570T>A | CA492293215 | KIF7 | c.1251A>T (p.Pro417=) c.1128A>T (p.Pro376=) c.*787A>T (n.*787A>T) | |
| 15 | g.89648570T>C | CA492293218 | KIF7 | c.1251A>G (p.Pro417=) c.1128A>G (p.Pro376=) c.*787A>G (n.*787A>G) | dbSNP gnomAD v4 |
| 15 | g.89648570T>G | CA492293219 | KIF7 | c.1251A>C (p.Pro417=) c.1128A>C (p.Pro376=) c.*787A>C (n.*787A>C) | |
| 15 | g.89648570T= | CA2194724804 | KIF7 | c.1251A= (p.Pro417=) c.1128A= (p.Pro376=) c.*787A= (n.*787A=) | |
| 15 | g.89648571G>A | CA393772335 | KIF7 | c.1250C>T (p.Pro417Leu) c.1127C>T (p.Pro376Leu) c.*786C>T (n.*786C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648571G>C | CA393772337 | KIF7 | c.1250C>G (p.Pro417Arg) c.1127C>G (p.Pro376Arg) c.*786C>G (n.*786C>G) | |
| 15 | g.89648571G= | CA2194724807 | KIF7 | c.1250C= (p.Pro417=) c.1127C= (p.Pro376=) c.*786C= (n.*786C=) | |
| 15 | g.89648571G>T | CA393772345 | KIF7 | c.1250C>A (p.Pro417Gln) c.1127C>A (p.Pro376Gln) c.*786C>A (n.*786C>A) | gnomAD v4 |
| 15 | g.89648572G>A | CA393772350 | KIF7 | c.1249C>T (p.Pro417Ser) c.1126C>T (p.Pro376Ser) c.*785C>T (n.*785C>T) | |
| 15 | g.89648572G>C | CA393772355 | KIF7 | c.1249C>G (p.Pro417Ala) c.1126C>G (p.Pro376Ala) c.*785C>G (n.*785C>G) | |
| 15 | g.89648572G>T | CA393772358 | KIF7 | c.1249C>A (p.Pro417Thr) c.1126C>A (p.Pro376Thr) c.*785C>A (n.*785C>A) | gnomAD v4 |
| 15 | g.89648573C>A | CA492293230 | KIF7 | c.1248G>T (p.Pro416=) c.1125G>T (p.Pro375=) c.*784G>T (n.*784G>T) | gnomAD v4 |
| 15 | g.89648573C= | CA2194724809 | KIF7 | c.1248G= (p.Pro416=) c.1125G= (p.Pro375=) c.*784G= (n.*784G=) | |
| 15 | g.89648573C>G | CA492293229 | KIF7 | c.1248G>C (p.Pro416=) c.1125G>C (p.Pro375=) c.*784G>C (n.*784G>C) | |
| 15 | g.89648573C>T | CA492293228 | KIF7 | c.1248G>A (p.Pro416=) c.1125G>A (p.Pro375=) c.*784G>A (n.*784G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648574G>A | CA7728586 | KIF7 | c.1247C>T (p.Pro416Leu) c.1124C>T (p.Pro375Leu) c.*783C>T (n.*783C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648574G>C | CA393772362 | KIF7 | c.1247C>G (p.Pro416Arg) c.1124C>G (p.Pro375Arg) c.*783C>G (n.*783C>G) | |
| 15 | g.89648574G= | CA2194724812 | KIF7 | c.1247C= (p.Pro416=) c.1124C= (p.Pro375=) c.*783C= (n.*783C=) | |
| 15 | g.89648574G>T | CA393772364 | KIF7 | c.1247C>A (p.Pro416Gln) c.1124C>A (p.Pro375Gln) c.*783C>A (n.*783C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648575G>A | CA393772373 | KIF7 | c.1246C>T (p.Pro416Ser) c.1123C>T (p.Pro375Ser) c.*782C>T (n.*782C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648575G>C | CA393772376 | KIF7 | c.1246C>G (p.Pro416Ala) c.1123C>G (p.Pro375Ala) c.*782C>G (n.*782C>G) | ClinVar |
| 15 | g.89648575G= | CA2194724815 | KIF7 | c.1246C= (p.Pro416=) c.1123C= (p.Pro375=) c.*782C= (n.*782C=) | |
| 15 | g.89648575G>T | CA393772370 | KIF7 | c.1246C>A (p.Pro416Thr) c.1123C>A (p.Pro375Thr) c.*782C>A (n.*782C>A) | gnomAD v4 |
| 15 | g.89648576A= | CA2194724818 | KIF7 | c.1245T= (p.Gly415=) c.1122T= (p.Gly374=) c.*781T= (n.*781T=) | |
| 15 | g.89648576A>C | CA492293235 | KIF7 | c.1245T>G (p.Gly415=) c.1122T>G (p.Gly374=) c.*781T>G (n.*781T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648576A>G | CA492293237 | KIF7 | c.1245T>C (p.Gly415=) c.1122T>C (p.Gly374=) c.*781T>C (n.*781T>C) | gnomAD v4 |
| 15 | g.89648576A>T | CA492293238 | KIF7 | c.1245T>A (p.Gly415=) c.1122T>A (p.Gly374=) c.*781T>A (n.*781T>A) | |
| 15 | g.89648577C>A | CA393772378 | KIF7 | c.1244G>T (p.Gly415Val) c.1121G>T (p.Gly374Val) c.*780G>T (n.*780G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648577C= | CA2194724823 | KIF7 | c.1244G= (p.Gly415=) c.1121G= (p.Gly374=) c.*780G= (n.*780G=) | |
| 15 | g.89648577C>G | CA393772380 | KIF7 | c.1244G>C (p.Gly415Ala) c.1121G>C (p.Gly374Ala) c.*780G>C (n.*780G>C) | |
| 15 | g.89648577C>T | CA393772383 | KIF7 | c.1244G>A (p.Gly415Asp) c.1121G>A (p.Gly374Asp) c.*780G>A (n.*780G>A) | dbSNP gnomAD v4 |
| 15 | g.89648580del | CA2630279565 | KIF7 | c.1244del (p.Gly415ValfsTer?) c.1121del (p.Gly374ValfsTer?) c.*780del (n.*780del) | gnomAD v4 |
| 15 | g.89648578C>A | CA393772388 | KIF7 | c.1243G>T (p.Gly415Cys) c.1120G>T (p.Gly374Cys) c.*779G>T (n.*779G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648578C= | CA2194724826 | KIF7 | c.1243G= (p.Gly415=) c.1120G= (p.Gly374=) c.*779G= (n.*779G=) | |
| 15 | g.89648578C>G | CA393772389 | KIF7 | c.1243G>C (p.Gly415Arg) c.1120G>C (p.Gly374Arg) c.*779G>C (n.*779G>C) | gnomAD v4 |
| 15 | g.89648578C>T | CA393772393 | KIF7 | c.1243G>A (p.Gly415Ser) c.1120G>A (p.Gly374Ser) c.*779G>A (n.*779G>A) | gnomAD v4 |
| 15 | g.89648579C>A | CA492293246 | KIF7 | c.1242G>T (p.Arg414=) c.1119G>T (p.Arg373=) c.*778G>T (n.*778G>T) | |
| 15 | g.89648579C>G | CA492293249 | KIF7 | c.1242G>C (p.Arg414=) c.1119G>C (p.Arg373=) c.*778G>C (n.*778G>C) | |
| 15 | g.89648579C>T | CA492293252 | KIF7 | c.1242G>A (p.Arg414=) c.1119G>A (p.Arg373=) c.*778G>A (n.*778G>A) | |
| 15 | g.89648580C>A | CA393772398 | KIF7 | c.1241G>T (p.Arg414Leu) c.1118G>T (p.Arg373Leu) c.*777G>T (n.*777G>T) | |
| 15 | g.89648580C= | CA2194724830 | KIF7 | c.1241G= (p.Arg414=) c.1118G= (p.Arg373=) c.*777G= (n.*777G=) | |
| 15 | g.89648580C>G | CA393772401 | KIF7 | c.1241G>C (p.Arg414Pro) c.1118G>C (p.Arg373Pro) c.*777G>C (n.*777G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648580C>T | CA393772403 | KIF7 | c.1241G>A (p.Arg414Gln) c.1118G>A (p.Arg373Gln) c.*777G>A (n.*777G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648581G>A | CA393772406 | KIF7 | c.1240C>T (p.Arg414Trp) c.1117C>T (p.Arg373Trp) c.*776C>T (n.*776C>T) | gnomAD v4 |
| 15 | g.89648581G>C | CA393772407 | KIF7 | c.1240C>G (p.Arg414Gly) c.1117C>G (p.Arg373Gly) c.*776C>G (n.*776C>G) | |
| 15 | g.89648581G>T | CA492293255 | KIF7 | c.1240C>A (p.Arg414=) c.1117C>A (p.Arg373=) c.*776C>A (n.*776C>A) | |
| 15 | g.89648582C>A | CA492293257 | KIF7 | c.1239G>T (p.Ala413=) c.1116G>T (p.Ala372=) c.*775G>T (n.*775G>T) | gnomAD v4 |
| 15 | g.89648582C>G | CA492293260 | KIF7 | c.1239G>C (p.Ala413=) c.1116G>C (p.Ala372=) c.*775G>C (n.*775G>C) | gnomAD v4 |
| 15 | g.89648582C>T | CA492293263 | KIF7 | c.1239G>A (p.Ala413=) c.1116G>A (p.Ala372=) c.*775G>A (n.*775G>A) | gnomAD v4 |
| 15 | g.89648583G>A | CA393772413 | KIF7 | c.1238C>T (p.Ala413Val) c.1115C>T (p.Ala372Val) c.*774C>T (n.*774C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648583G>C | CA393772414 | KIF7 | c.1238C>G (p.Ala413Gly) c.1115C>G (p.Ala372Gly) c.*774C>G (n.*774C>G) | |
| 15 | g.89648583G= | CA2194724835 | KIF7 | c.1238C= (p.Ala413=) c.1115C= (p.Ala372=) c.*774C= (n.*774C=) | |
| 15 | g.89648583G>T | CA393772411 | KIF7 | c.1238C>A (p.Ala413Glu) c.1115C>A (p.Ala372Glu) c.*774C>A (n.*774C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648584C>A | CA393772418 | KIF7 | c.1237G>T (p.Ala413Ser) c.1114G>T (p.Ala372Ser) c.*773G>T (n.*773G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648584C= | CA2194724838 | KIF7 | c.1237G= (p.Ala413=) c.1114G= (p.Ala372=) c.*773G= (n.*773G=) | |
| 15 | g.89648584C>G | CA393772425 | KIF7 | c.1237G>C (p.Ala413Pro) c.1114G>C (p.Ala372Pro) c.*773G>C (n.*773G>C) | gnomAD v4 |
| 15 | g.89648584C>T | CA393772427 | KIF7 | c.1237G>A (p.Ala413Thr) c.1114G>A (p.Ala372Thr) c.*773G>A (n.*773G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648589_89648595dup | CA2580090406 | KIF7 | c.1231_1237dup (p.Ala413GlufsTer?) c.1108_1114dup (p.Ala372GlufsTer?) c.*767_*773dup (n.*767_*773dup) | ClinVar |
| 15 | g.89648585G>A | CA492293270 | KIF7 | c.1236C>T (p.Gly412=) c.1113C>T (p.Gly371=) c.*772C>T (n.*772C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648585G>C | CA492293271 | KIF7 | c.1236C>G (p.Gly412=) c.1113C>G (p.Gly371=) c.*772C>G (n.*772C>G) | |
| 15 | g.89648585G= | CA2194724843 | KIF7 | c.1236C= (p.Gly412=) c.1113C= (p.Gly371=) c.*772C= (n.*772C=) | |
| 15 | g.89648585G>T | CA492293272 | KIF7 | c.1236C>A (p.Gly412=) c.1113C>A (p.Gly371=) c.*772C>A (n.*772C>A) | |
| 15 | g.89648586C>A | CA393772431 | KIF7 | c.1235G>T (p.Gly412Val) c.1112G>T (p.Gly371Val) c.*771G>T (n.*771G>T) | |
| 15 | g.89648586C= | CA2194724847 | KIF7 | c.1235G= (p.Gly412=) c.1112G= (p.Gly371=) c.*771G= (n.*771G=) | |
| 15 | g.89648586C>G | CA393772432 | KIF7 | c.1235G>C (p.Gly412Ala) c.1112G>C (p.Gly371Ala) c.*771G>C (n.*771G>C) | |
| 15 | g.89648586C>T | CA393772435 | KIF7 | c.1235G>A (p.Gly412Asp) c.1112G>A (p.Gly371Asp) c.*771G>A (n.*771G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648587C>A | CA393772438 | KIF7 | c.1234G>T (p.Gly412Cys) c.1111G>T (p.Gly371Cys) c.*770G>T (n.*770G>T) | gnomAD v4 |
| 15 | g.89648587C= | CA2194724849 | KIF7 | c.1234G= (p.Gly412=) c.1111G= (p.Gly371=) c.*770G= (n.*770G=) | |
| 15 | g.89648587C>G | CA393772443 | KIF7 | c.1234G>C (p.Gly412Arg) c.1111G>C (p.Gly371Arg) c.*770G>C (n.*770G>C) | |
| 15 | g.89648587C>T | CA393772440 | KIF7 | c.1234G>A (p.Gly412Ser) c.1111G>A (p.Gly371Ser) c.*770G>A (n.*770G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648588G>A | CA492293278 | KIF7 | c.1233C>T (p.Ser411=) c.1110C>T (p.Ser370=) c.*769C>T (n.*769C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648588G>C | CA393772447 | KIF7 | c.1233C>G (p.Ser411Arg) c.1110C>G (p.Ser370Arg) c.*769C>G (n.*769C>G) | dbSNP gnomAD v4 |
| 15 | g.89648588G= | CA2194724854 | KIF7 | c.1233C= (p.Ser411=) c.1110C= (p.Ser370=) c.*769C= (n.*769C=) | |
| 15 | g.89648588G>T | CA393772452 | KIF7 | c.1233C>A (p.Ser411Arg) c.1110C>A (p.Ser370Arg) c.*769C>A (n.*769C>A) | dbSNP gnomAD v4 |
| 15 | g.89648589C>A | CA393772455 | KIF7 | c.1232G>T (p.Ser411Ile) c.1109G>T (p.Ser370Ile) c.*768G>T (n.*768G>T) | |
| 15 | g.89648589C= | CA2194724856 | KIF7 | c.1232G= (p.Ser411=) c.1109G= (p.Ser370=) c.*768G= (n.*768G=) | |
| 15 | g.89648589C>G | CA393772457 | KIF7 | c.1232G>C (p.Ser411Thr) c.1109G>C (p.Ser370Thr) c.*768G>C (n.*768G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89648589C>T | CA393772460 | KIF7 | c.1232G>A (p.Ser411Asn) c.1109G>A (p.Ser370Asn) c.*768G>A (n.*768G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648590T>A | CA393772466 | KIF7 | c.1231A>T (p.Ser411Cys) c.1108A>T (p.Ser370Cys) c.*767A>T (n.*767A>T) | |
| 15 | g.89648590T>C | CA393772468 | KIF7 | c.1231A>G (p.Ser411Gly) c.1108A>G (p.Ser370Gly) c.*767A>G (n.*767A>G) | gnomAD v4 |
| 15 | g.89648590T>G | CA393772462 | KIF7 | c.1231A>C (p.Ser411Arg) c.1108A>C (p.Ser370Arg) c.*767A>C (n.*767A>C) | dbSNP gnomAD v4 |
| 15 | g.89648590T= | CA2194724858 | KIF7 | c.1231A= (p.Ser411=) c.1108A= (p.Ser370=) c.*767A= (n.*767A=) | |
| 15 | g.89648591C>A | CA492293285 | KIF7 | c.1230G>T (p.Ala410=) c.1107G>T (p.Ala369=) c.*766G>T (n.*766G>T) | gnomAD v4 |
| 15 | g.89648591C= | CA2194724862 | KIF7 | c.1230G= (p.Ala410=) c.1107G= (p.Ala369=) c.*766G= (n.*766G=) | |
| 15 | g.89648591C>G | CA492293286 | KIF7 | c.1230G>C (p.Ala410=) c.1107G>C (p.Ala369=) c.*766G>C (n.*766G>C) | |
| 15 | g.89648591C>T | CA492293287 | KIF7 | c.1230G>A (p.Ala410=) c.1107G>A (p.Ala369=) c.*766G>A (n.*766G>A) | dbSNP gnomAD v4 |
| 15 | g.89648591_89648592delinsCG | CA2194724861 | KIF7 | c.1229_1230delinsCG (p.Ala410=) c.1106_1107delinsCG (p.Ala369=) c.*765_*766delinsCG (n.*765_*766delinsCG) | |
| 15 | g.89648592del | CA10603354 | KIF7 | c.1229del (p.Ala410GlyfsTer?) c.1106del (p.Ala369GlyfsTer?) c.*765del (n.*765del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648592G>A | CA393772483 | KIF7 | c.1229C>T (p.Ala410Val) c.1106C>T (p.Ala369Val) c.*765C>T (n.*765C>T) | gnomAD v4 |
| 15 | g.89648592G>C | CA393772471 | KIF7 | c.1229C>G (p.Ala410Gly) c.1106C>G (p.Ala369Gly) c.*765C>G (n.*765C>G) | dbSNP |
| 15 | g.89648592G= | CA2194724874 | KIF7 | c.1229C= (p.Ala410=) c.1106C= (p.Ala369=) c.*765C= (n.*765C=) | |
| 15 | g.89648592G>T | CA393772479 | KIF7 | c.1229C>A (p.Ala410Glu) c.1106C>A (p.Ala369Glu) c.*765C>A (n.*765C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648593C>A | CA393772487 | KIF7 | c.1228G>T (p.Ala410Ser) c.1105G>T (p.Ala369Ser) c.*764G>T (n.*764G>T) | ClinVar dbSNP |
| 15 | g.89648593C>G | CA393772490 | KIF7 | c.1228G>C (p.Ala410Pro) c.1105G>C (p.Ala369Pro) c.*764G>C (n.*764G>C) | |
| 15 | g.89648593C>T | CA393772496 | KIF7 | c.1228G>A (p.Ala410Thr) c.1105G>A (p.Ala369Thr) c.*764G>A (n.*764G>A) | gnomAD v4 |
| 15 | g.89648594C>A | CA492293295 | KIF7 | c.1227G>T (p.Thr409=) c.1104G>T (p.Thr368=) c.*763G>T (n.*763G>T) | gnomAD v4 |
| 15 | g.89648594C>G | CA492293297 | KIF7 | c.1227G>C (p.Thr409=) c.1104G>C (p.Thr368=) c.*763G>C (n.*763G>C) | |
| 15 | g.89648594C>T | CA492293299 | KIF7 | c.1227G>A (p.Thr409=) c.1104G>A (p.Thr368=) c.*763G>A (n.*763G>A) | |
| 15 | g.89648595G>A | CA393772503 | KIF7 | c.1226C>T (p.Thr409Met) c.1103C>T (p.Thr368Met) c.*762C>T (n.*762C>T) | dbSNP gnomAD v4 COSMIC |
| 15 | g.89648595G>C | CA393772498 | KIF7 | c.1226C>G (p.Thr409Arg) c.1103C>G (p.Thr368Arg) c.*762C>G (n.*762C>G) | |
| 15 | g.89648595G= | CA2194724877 | KIF7 | c.1226C= (p.Thr409=) c.1103C= (p.Thr368=) c.*762C= (n.*762C=) | |
| 15 | g.89648595G>T | CA393772500 | KIF7 | c.1226C>A (p.Thr409Lys) c.1103C>A (p.Thr368Lys) c.*762C>A (n.*762C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648595_89648596insC | CA2630279590 | KIF7 | c.1225_1226insG (p.Thr409SerfsTer?) c.1102_1103insG (p.Thr368SerfsTer?) c.*761_*762insG (n.*761_*762insG) | gnomAD v4 |
| 15 | g.89648596T>A | CA393772508 | KIF7 | c.1225A>T (p.Thr409Ser) c.1102A>T (p.Thr368Ser) c.*761A>T (n.*761A>T) | gnomAD v4 |
| 15 | g.89648596T>C | CA020177 | KIF7 | c.1225A>G (p.Thr409Ala) c.1102A>G (p.Thr368Ala) c.*761A>G (n.*761A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648596T>G | CA393772511 | KIF7 | c.1225A>C (p.Thr409Pro) c.1102A>C (p.Thr368Pro) c.*761A>C (n.*761A>C) | dbSNP |
| 15 | g.89648596T= | CA2194724884 | KIF7 | c.1225A= (p.Thr409=) c.1102A= (p.Thr368=) c.*761A= (n.*761A=) | |
| 15 | g.89648596_89648597delinsCG | CA2573151281 | KIF7 | c.1224_1225delinsCG (p.Glu408_Thr409delinsAspAla) c.1101_1102delinsCG (p.Glu367_Thr368delinsAspAla) c.*760_*761delinsCG (n.*760_*761delinsCG) | ClinVar dbSNP |
| 15 | g.89648597C>A | CA393772514 | KIF7 | c.1224G>T (p.Glu408Asp) c.1101G>T (p.Glu367Asp) c.*760G>T (n.*760G>T) | |
| 15 | g.89648597C= | CA2194724891 | KIF7 | c.1224G= (p.Glu408=) c.1101G= (p.Glu367=) c.*760G= (n.*760G=) | |
| 15 | g.89648597C>G | CA393772517 | KIF7 | c.1224G>C (p.Glu408Asp) c.1101G>C (p.Glu367Asp) c.*760G>C (n.*760G>C) | ClinVar dbSNP gnomAD v2 |
| 15 | g.89648597C>T | CA492293309 | KIF7 | c.1224G>A (p.Glu408=) c.1101G>A (p.Glu367=) c.*760G>A (n.*760G>A) | gnomAD v4 |
| 15 | g.89648597_89648598insCGCC | CA2630279594 | KIF7 | c.1224_1225insGCGG (p.Thr409AlafsTer?) c.1101_1102insGCGG (p.Thr368AlafsTer?) c.*760_*761insGCGG (n.*760_*761insGCGG) | gnomAD v4 |
| 15 | g.89648597_89648598insGCCGCC | CA2630279595 | KIF7 | c.1224_1225insGCGGCG (p.Glu408_Thr409insAlaAla) c.1101_1102insGCGGCG (p.Glu367_Thr368insAlaAla) c.*760_*761insGCGGCG (n.*760_*761insGCGGCG) | gnomAD v4 |
| 15 | g.89648598_89648599insTCGGGTGGCCGCTCGCCGCCT | CA2630279597 | KIF7 | c.1224_1225insGCGGCGAGCGGCCACCCGAAG (p.Glu408_Thr409insAlaAlaSerGlyHisProLys) c.1101_1102insGCGGCGAGCGGCCACCCGAAG (p.Glu367_Thr368insAlaAlaSerGlyHisProLys) c.*760_*761insGCGGCGAGCGGCCACCCGAAG (n.*760_*761insGCGGCGAGCGGCCACCCGAAG) | gnomAD v4 |
| 15 | g.89648598T>A | CA393772520 | KIF7 | c.1223A>T (p.Glu408Val) c.1100A>T (p.Glu367Val) c.*759A>T (n.*759A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648598T>C | CA393772524 | KIF7 | c.1223A>G (p.Glu408Gly) c.1100A>G (p.Glu367Gly) c.*759A>G (n.*759A>G) | gnomAD v4 |
| 15 | g.89648598T>G | CA393772522 | KIF7 | c.1223A>C (p.Glu408Ala) c.1100A>C (p.Glu367Ala) c.*759A>C (n.*759A>C) | |
| 15 | g.89648598T= | CA2194724894 | KIF7 | c.1223A= (p.Glu408=) c.1100A= (p.Glu367=) c.*759A= (n.*759A=) | |
| 15 | g.89648599C>A | CA393772530 | KIF7 | c.1222G>T (p.Glu408Ter) c.1099G>T (p.Glu367Ter) c.*758G>T (n.*758G>T) | |
| 15 | g.89648599C>G | CA393772533 | KIF7 | c.1222G>C (p.Glu408Gln) c.1099G>C (p.Glu367Gln) c.*758G>C (n.*758G>C) | |
| 15 | g.89648599C>T | CA393772534 | KIF7 | c.1222G>A (p.Glu408Lys) c.1099G>A (p.Glu367Lys) c.*758G>A (n.*758G>A) | gnomAD v4 |
| 15 | g.89648600T>A | CA393772543 | KIF7 | c.1221A>T (p.Glu407Asp) c.1098A>T (p.Glu366Asp) c.*757A>T (n.*757A>T) | |
| 15 | g.89648600T>C | CA492293314 | KIF7 | c.1221A>G (p.Glu407=) c.1098A>G (p.Glu366=) c.*757A>G (n.*757A>G) | gnomAD v3 gnomAD v4 |
| 15 | g.89648600T>G | CA393772545 | KIF7 | c.1221A>C (p.Glu407Asp) c.1098A>C (p.Glu366Asp) c.*757A>C (n.*757A>C) | |
| 15 | g.89648601T>A | CA393772547 | KIF7 | c.1220A>T (p.Glu407Val) c.1097A>T (p.Glu366Val) c.*756A>T (n.*756A>T) | |
| 15 | g.89648601T>C | CA393772549 | KIF7 | c.1220A>G (p.Glu407Gly) c.1097A>G (p.Glu366Gly) c.*756A>G (n.*756A>G) | |
| 15 | g.89648601T>G | CA393772551 | KIF7 | c.1220A>C (p.Glu407Ala) c.1097A>C (p.Glu366Ala) c.*756A>C (n.*756A>C) | |
| 15 | g.89648602C>A | CA393772555 | KIF7 | c.1219G>T (p.Glu407Ter) c.1096G>T (p.Glu366Ter) c.*755G>T (n.*755G>T) | |
| 15 | g.89648602C= | CA2194724901 | KIF7 | c.1219G= (p.Glu407=) c.1096G= (p.Glu366=) c.*755G= (n.*755G=) | |
| 15 | g.89648602C>G | CA393772559 | KIF7 | c.1219G>C (p.Glu407Gln) c.1096G>C (p.Glu366Gln) c.*755G>C (n.*755G>C) | |
| 15 | g.89648602C>T | CA393772563 | KIF7 | c.1219G>A (p.Glu407Lys) c.1096G>A (p.Glu366Lys) c.*755G>A (n.*755G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648603G>A | CA492293321 | KIF7 | c.1218C>T (p.Pro406=) c.1095C>T (p.Pro365=) c.*754C>T (n.*754C>T) | gnomAD v4 |
| 15 | g.89648603G>C | CA492293322 | KIF7 | c.1218C>G (p.Pro406=) c.1095C>G (p.Pro365=) c.*754C>G (n.*754C>G) | |
| 15 | g.89648603G= | CA2194724905 | KIF7 | c.1218C= (p.Pro406=) c.1095C= (p.Pro365=) c.*754C= (n.*754C=) | |
| 15 | g.89648603G>T | CA492293323 | KIF7 | c.1218C>A (p.Pro406=) c.1095C>A (p.Pro365=) c.*754C>A (n.*754C>A) | dbSNP gnomAD v4 |
| 15 | g.89648604G>A | CA393772572 | KIF7 | c.1217C>T (p.Pro406Leu) c.1094C>T (p.Pro365Leu) c.*753C>T (n.*753C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648604G>C | CA393772570 | KIF7 | c.1217C>G (p.Pro406Arg) c.1094C>G (p.Pro365Arg) c.*753C>G (n.*753C>G) | |
| 15 | g.89648604G= | CA2194724909 | KIF7 | c.1217C= (p.Pro406=) c.1094C= (p.Pro365=) c.*753C= (n.*753C=) | |
| 15 | g.89648604G>T | CA393772567 | KIF7 | c.1217C>A (p.Pro406His) c.1094C>A (p.Pro365His) c.*753C>A (n.*753C>A) | gnomAD v4 |
| 15 | g.89648605G>A | CA393772575 | KIF7 | c.1216C>T (p.Pro406Ser) c.1093C>T (p.Pro365Ser) c.*752C>T (n.*752C>T) | |
| 15 | g.89648605G>C | CA274582558 | KIF7 | c.1216C>G (p.Pro406Ala) c.1093C>G (p.Pro365Ala) c.*752C>G (n.*752C>G) | dbSNP |
| 15 | g.89648605G= | CA2194724917 | KIF7 | c.1216C= (p.Pro406=) c.1093C= (p.Pro365=) c.*752C= (n.*752C=) | |
| 15 | g.89648605G>T | CA020173 | KIF7 | c.1216C>A (p.Pro406Thr) c.1093C>A (p.Pro365Thr) c.*752C>A (n.*752C>A) | ClinVar dbSNP gnomAD v2 |
| 15 | g.89648606T>A | CA492293325 | KIF7 | c.1215A>T (p.Pro405=) c.1092A>T (p.Pro364=) c.*751A>T (n.*751A>T) | |
| 15 | g.89648606T>C | CA492293326 | KIF7 | c.1215A>G (p.Pro405=) c.1092A>G (p.Pro364=) c.*751A>G (n.*751A>G) | |
| 15 | g.89648606T>G | CA492293327 | KIF7 | c.1215A>C (p.Pro405=) c.1092A>C (p.Pro364=) c.*751A>C (n.*751A>C) | gnomAD v4 |
| 15 | g.89648607G>A | CA393772581 | KIF7 | c.1214C>T (p.Pro405Leu) c.1091C>T (p.Pro364Leu) c.*750C>T (n.*750C>T) | |
| 15 | g.89648607G>C | CA393772585 | KIF7 | c.1214C>G (p.Pro405Arg) c.1091C>G (p.Pro364Arg) c.*750C>G (n.*750C>G) | |
| 15 | g.89648607G>T | CA393772589 | KIF7 | c.1214C>A (p.Pro405Gln) c.1091C>A (p.Pro364Gln) c.*750C>A (n.*750C>A) | |
| 15 | g.89648608G>A | CA7728587 | KIF7 | c.1213C>T (p.Pro405Ser) c.1090C>T (p.Pro364Ser) c.*749C>T (n.*749C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648608G>C | CA393772593 | KIF7 | c.1213C>G (p.Pro405Ala) c.1090C>G (p.Pro364Ala) c.*749C>G (n.*749C>G) | |
| 15 | g.89648608G= | CA2194724924 | KIF7 | c.1213C= (p.Pro405=) c.1090C= (p.Pro364=) c.*749C= (n.*749C=) | |
| 15 | g.89648608G>T | CA393772594 | KIF7 | c.1213C>A (p.Pro405Thr) c.1090C>A (p.Pro364Thr) c.*749C>A (n.*749C>A) | |
| 15 | g.89648609C>A | CA492293328 | KIF7 | c.1212G>T (p.Arg404=) c.1089G>T (p.Arg363=) c.*748G>T (n.*748G>T) | |
| 15 | g.89648609C>G | CA492293329 | KIF7 | c.1212G>C (p.Arg404=) c.1089G>C (p.Arg363=) c.*748G>C (n.*748G>C) | |
| 15 | g.89648609C>T | CA492293330 | KIF7 | c.1212G>A (p.Arg404=) c.1089G>A (p.Arg363=) c.*748G>A (n.*748G>A) | gnomAD v4 |
| 15 | g.89648610C>A | CA393772595 | KIF7 | c.1211G>T (p.Arg404Leu) c.1088G>T (p.Arg363Leu) c.*747G>T (n.*747G>T) | |
| 15 | g.89648610C= | CA2194724930 | KIF7 | c.1211G= (p.Arg404=) c.1088G= (p.Arg363=) c.*747G= (n.*747G=) | |
| 15 | g.89648610C>G | CA393772596 | KIF7 | c.1211G>C (p.Arg404Pro) c.1088G>C (p.Arg363Pro) c.*747G>C (n.*747G>C) | |
| 15 | g.89648610C>T | CA393772597 | KIF7 | c.1211G>A (p.Arg404Gln) c.1088G>A (p.Arg363Gln) c.*747G>A (n.*747G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648611G>A | CA393772599 | KIF7 | c.1210C>T (p.Arg404Trp) c.1087C>T (p.Arg363Trp) c.*746C>T (n.*746C>T) | gnomAD v4 |
| 15 | g.89648611G>C | CA393772601 | KIF7 | c.1210C>G (p.Arg404Gly) c.1087C>G (p.Arg363Gly) c.*746C>G (n.*746C>G) | gnomAD v4 |
| 15 | g.89648611G= | CA2194724934 | KIF7 | c.1210C= (p.Arg404=) c.1087C= (p.Arg363=) c.*746C= (n.*746C=) | |
| 15 | g.89648611G>T | CA492293339 | KIF7 | c.1210C>A (p.Arg404=) c.1087C>A (p.Arg363=) c.*746C>A (n.*746C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648612C>A | CA393772611 | KIF7 | c.1209G>T (p.Glu403Asp) c.1086G>T (p.Glu362Asp) c.*745G>T (n.*745G>T) | gnomAD v4 |
| 15 | g.89648612C= | CA2194724936 | KIF7 | c.1209G= (p.Glu403=) c.1086G= (p.Glu362=) c.*745G= (n.*745G=) | |
| 15 | g.89648612C>G | CA393772607 | KIF7 | c.1209G>C (p.Glu403Asp) c.1086G>C (p.Glu362Asp) c.*745G>C (n.*745G>C) | |
| 15 | g.89648612C>T | CA10587214 | KIF7 | c.1209G>A (p.Glu403=) c.1086G>A (p.Glu362=) c.*745G>A (n.*745G>A) | ClinVar dbSNP |
| 15 | g.89648613T>A | CA393772617 | KIF7 | c.1208A>T (p.Glu403Val) c.1085A>T (p.Glu362Val) c.*744A>T (n.*744A>T) | |
| 15 | g.89648613T>C | CA393772619 | KIF7 | c.1208A>G (p.Glu403Gly) c.1085A>G (p.Glu362Gly) c.*744A>G (n.*744A>G) | |
| 15 | g.89648613T>G | CA393772620 | KIF7 | c.1208A>C (p.Glu403Ala) c.1085A>C (p.Glu362Ala) c.*744A>C (n.*744A>C) | |
| 15 | g.89648614C>A | CA393772622 | KIF7 | c.1207G>T (p.Glu403Ter) c.1084G>T (p.Glu362Ter) c.*743G>T (n.*743G>T) | gnomAD v4 |
| 15 | g.89648614C= | CA2194724940 | KIF7 | c.1207G= (p.Glu403=) c.1084G= (p.Glu362=) c.*743G= (n.*743G=) | |
| 15 | g.89648614C>G | CA7728588 | KIF7 | c.1207G>C (p.Glu403Gln) c.1084G>C (p.Glu362Gln) c.*743G>C (n.*743G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89648614C>T | CA393772625 | KIF7 | c.1207G>A (p.Glu403Lys) c.1084G>A (p.Glu362Lys) c.*743G>A (n.*743G>A) | gnomAD v4 COSMIC |
| 15 | g.89648615G>A | CA492293346 | KIF7 | c.1206C>T (p.Ala402=) c.1083C>T (p.Ala361=) c.*742C>T (n.*742C>T) | gnomAD v4 |
| 15 | g.89648615G>C | CA7728589 | KIF7 | c.1206C>G (p.Ala402=) c.1083C>G (p.Ala361=) c.*742C>G (n.*742C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89648615G= | CA2194724942 | KIF7 | c.1206C= (p.Ala402=) c.1083C= (p.Ala361=) c.*742C= (n.*742C=) | |
| 15 | g.89648615G>T | CA492293347 | KIF7 | c.1206C>A (p.Ala402=) c.1083C>A (p.Ala361=) c.*742C>A (n.*742C>A) | |
| 15 | g.89648616G>A | CA393772631 | KIF7 | c.1205C>T (p.Ala402Val) c.1082C>T (p.Ala361Val) c.*741C>T (n.*741C>T) | |
| 15 | g.89648616G>C | CA393772633 | KIF7 | c.1205C>G (p.Ala402Gly) c.1082C>G (p.Ala361Gly) c.*741C>G (n.*741C>G) | gnomAD v4 |
| 15 | g.89648616G>T | CA393772636 | KIF7 | c.1205C>A (p.Ala402Asp) c.1082C>A (p.Ala361Asp) c.*741C>A (n.*741C>A) | gnomAD v4 |
| 15 | g.89648617C>A | CA393772639 | KIF7 | c.1204G>T (p.Ala402Ser) c.1081G>T (p.Ala361Ser) c.*740G>T (n.*740G>T) | gnomAD v4 |
| 15 | g.89648617C>G | CA393772640 | KIF7 | c.1204G>C (p.Ala402Pro) c.1081G>C (p.Ala361Pro) c.*740G>C (n.*740G>C) | |
| 15 | g.89648617C>T | CA393772642 | KIF7 | c.1204G>A (p.Ala402Thr) c.1081G>A (p.Ala361Thr) c.*740G>A (n.*740G>A) | gnomAD v4 |
| 15 | g.89648618del | CA2630279626 | KIF7 | c.1204del (p.Ala402ProfsTer?) c.1081del (p.Ala361ProfsTer?) c.*740del (n.*740del) | gnomAD v4 |
| 15 | g.89648618C>A | CA393772644 | KIF7 | c.1203G>T (p.Glu401Asp) c.1080G>T (p.Glu360Asp) c.*739G>T (n.*739G>T) | |
| 15 | g.89648618C>G | CA393772646 | KIF7 | c.1203G>C (p.Glu401Asp) c.1080G>C (p.Glu360Asp) c.*739G>C (n.*739G>C) | gnomAD v4 |
| 15 | g.89648618C>T | CA492293350 | KIF7 | c.1203G>A (p.Glu401=) c.1080G>A (p.Glu360=) c.*739G>A (n.*739G>A) | |
| 15 | g.89648619T>A | CA393772649 | KIF7 | c.1202A>T (p.Glu401Val) c.1079A>T (p.Glu360Val) c.*738A>T (n.*738A>T) | |
| 15 | g.89648619T>C | CA393772657 | KIF7 | c.1202A>G (p.Glu401Gly) c.1079A>G (p.Glu360Gly) c.*738A>G (n.*738A>G) | |
| 15 | g.89648619T>G | CA393772652 | KIF7 | c.1202A>C (p.Glu401Ala) c.1079A>C (p.Glu360Ala) c.*738A>C (n.*738A>C) | |
| 15 | g.89648620C>A | CA393772662 | KIF7 | c.1201G>T (p.Glu401Ter) c.1078G>T (p.Glu360Ter) c.*737G>T (n.*737G>T) | |
| 15 | g.89648620C= | CA2194724945 | KIF7 | c.1201G= (p.Glu401=) c.1078G= (p.Glu360=) c.*737G= (n.*737G=) | |
| 15 | g.89648620C>G | CA393772665 | KIF7 | c.1201G>C (p.Glu401Gln) c.1078G>C (p.Glu360Gln) c.*737G>C (n.*737G>C) | |
| 15 | g.89648620C>T | CA393772674 | KIF7 | c.1201G>A (p.Glu401Lys) c.1078G>A (p.Glu360Lys) c.*737G>A (n.*737G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89648621G>A | CA492293354 | KIF7 | c.1200C>T (p.Pro400=) c.1077C>T (p.Pro359=) c.*736C>T (n.*736C>T) | dbSNP gnomAD v4 |
| 15 | g.89648621G>C | CA10604982 | KIF7 | c.1200C>G (p.Pro400=) c.1077C>G (p.Pro359=) c.*736C>G (n.*736C>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89648621G= | CA2194724949 | KIF7 | c.1200C= (p.Pro400=) c.1077C= (p.Pro359=) c.*736C= (n.*736C=) | |
| 15 | g.89648621G>T | CA492293357 | KIF7 | c.1200C>A (p.Pro400=) c.1077C>A (p.Pro359=) c.*736C>A (n.*736C>A) | gnomAD v4 |
| 15 | g.89648623dup | CA492293353 | KIF7 | c.1200dup (p.Glu401ArgfsTer?) c.1077dup (p.Glu360ArgfsTer?) c.*736dup (n.*736dup) |