15 | g.65077937G>A | CA490899344 | KBTBD13 | c.1122G>A (p.Leu374=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077937G>C | CA7614081 | KBTBD13 | c.1122G>C (p.Leu374=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077937G= | CA2183441169 | KBTBD13 | c.1122G= (p.Leu374=)
| |
15 | g.65077937G>T | CA490899345 | KBTBD13 | c.1122G>T (p.Leu374=)
| |
15 | g.65077938G>A | CA392865470 | KBTBD13 | c.1123G>A (p.Ala375Thr)
| gnomAD v4 COSMIC |
15 | g.65077938G>C | CA392865471 | KBTBD13 | c.1123G>C (p.Ala375Pro)
| |
15 | g.65077938G>T | CA392865472 | KBTBD13 | c.1123G>T (p.Ala375Ser)
| |
15 | g.65077939C>A | CA392865473 | KBTBD13 | c.1124C>A (p.Ala375Asp)
| |
15 | g.65077939C= | CA2183441172 | KBTBD13 | c.1124C= (p.Ala375=)
| |
15 | g.65077939C>G | CA392865474 | KBTBD13 | c.1124C>G (p.Ala375Gly)
| |
15 | g.65077939C>T | CA392865475 | KBTBD13 | c.1124C>T (p.Ala375Val)
| dbSNP gnomAD v2 |
15 | g.65077940C>A | CA490899349 | KBTBD13 | c.1125C>A (p.Ala375=)
| |
15 | g.65077940C>G | CA490899350 | KBTBD13 | c.1125C>G (p.Ala375=)
| |
15 | g.65077940C>T | CA490899351 | KBTBD13 | c.1125C>T (p.Ala375=)
| gnomAD v4 |
15 | g.65077941A= | CA2183441175 | KBTBD13 | c.1126A= (p.Thr376=)
| |
15 | g.65077941A>C | CA7614082 | KBTBD13 | c.1126A>C (p.Thr376Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077941A>G | CA392865476 | KBTBD13 | c.1126A>G (p.Thr376Ala)
| |
15 | g.65077941A>T | CA392865477 | KBTBD13 | c.1126A>T (p.Thr376Ser)
| gnomAD v4 |
15 | g.65077941_65077942delinsAC | CA2183441174 | KBTBD13 | c.1126_1127delinsAC (p.Thr376=)
| |
15 | g.65077942del | CA7614083 | KBTBD13 | c.1127del (p.Thr376ArgfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077942C>A | CA392865478 | KBTBD13 | c.1127C>A (p.Thr376Lys)
| |
15 | g.65077942C>G | CA392865480 | KBTBD13 | c.1127C>G (p.Thr376Arg)
| |
15 | g.65077942C>T | CA392865479 | KBTBD13 | c.1127C>T (p.Thr376Met)
| gnomAD v4 COSMIC |
15 | g.65077943G>A | CA153231 | KBTBD13 | c.1128G>A (p.Thr376=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077943G>C | CA490899353 | KBTBD13 | c.1128G>C (p.Thr376=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077943G= | CA2183441179 | KBTBD13 | c.1128G= (p.Thr376=)
| |
15 | g.65077943G>T | CA490899352 | KBTBD13 | c.1128G>T (p.Thr376=)
| gnomAD v4 |
15 | g.65077945dup | CA2628987831 | KBTBD13 | c.1130dup (p.Gln378ProfsTer24)
| gnomAD v4 |
15 | g.65077944G>A | CA392865481 | KBTBD13 | c.1129G>A (p.Gly377Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077944G>C | CA392865482 | KBTBD13 | c.1129G>C (p.Gly377Arg)
| |
15 | g.65077944G= | CA2183441182 | KBTBD13 | c.1129G= (p.Gly377=)
| |
15 | g.65077944G>T | CA392865483 | KBTBD13 | c.1129G>T (p.Gly377Cys)
| gnomAD v4 |
15 | g.65077945G>A | CA392865484 | KBTBD13 | c.1130G>A (p.Gly377Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077945G>C | CA392865485 | KBTBD13 | c.1130G>C (p.Gly377Ala)
| |
15 | g.65077945G= | CA2183441183 | KBTBD13 | c.1130G= (p.Gly377=)
| |
15 | g.65077945G>T | CA392865486 | KBTBD13 | c.1130G>T (p.Gly377Val)
| gnomAD v4 |
15 | g.65077946C>A | CA490899357 | KBTBD13 | c.1131C>A (p.Gly377=)
| |
15 | g.65077946C>G | CA490899358 | KBTBD13 | c.1131C>G (p.Gly377=)
| |
15 | g.65077946C>T | CA490899359 | KBTBD13 | c.1131C>T (p.Gly377=)
| |
15 | g.65077947C>A | CA392865487 | KBTBD13 | c.1132C>A (p.Gln378Lys)
| |
15 | g.65077947C>G | CA392865488 | KBTBD13 | c.1132C>G (p.Gln378Glu)
| |
15 | g.65077947C>T | CA392865489 | KBTBD13 | c.1132C>T (p.Gln378Ter)
| |
15 | g.65077948A= | CA2183441185 | KBTBD13 | c.1133A= (p.Gln378=)
| |
15 | g.65077948A>C | CA392865491 | KBTBD13 | c.1133A>C (p.Gln378Pro)
| |
15 | g.65077948A>G | CA7614084 | KBTBD13 | c.1133A>G (p.Gln378Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077948A>T | CA392865490 | KBTBD13 | c.1133A>T (p.Gln378Leu)
| |
15 | g.65077949G>A | CA490899361 | KBTBD13 | c.1134G>A (p.Gln378=)
| |
15 | g.65077949G>C | CA392865492 | KBTBD13 | c.1134G>C (p.Gln378His)
| |
15 | g.65077949G>T | CA392865493 | KBTBD13 | c.1134G>T (p.Gln378His)
| |
15 | g.65077950T>A | CA392865494 | KBTBD13 | c.1135T>A (p.Trp379Arg)
| |
15 | g.65077950T>C | CA392865495 | KBTBD13 | c.1135T>C (p.Trp379Arg)
| |
15 | g.65077950T>G | CA392865496 | KBTBD13 | c.1135T>G (p.Trp379Gly)
| |
15 | g.65077950_65077952delinsTGG | CA2183441187 | KBTBD13 | c.1135_1137delinsTGG (p.Trp379=)
| |
15 | g.65077951G>A | CA392865499 | KBTBD13 | c.1136G>A (p.Trp379Ter)
| |
15 | g.65077951G>C | CA392865498 | KBTBD13 | c.1136G>C (p.Trp379Ser)
| |
15 | g.65077951G>T | CA392865497 | KBTBD13 | c.1136G>T (p.Trp379Leu)
| gnomAD v4 |
15 | g.65077951_65077952del | CA618956883 | KBTBD13 | c.1136_1137del (p.Trp379TyrfsTer22)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077952G>A | CA7614085 | KBTBD13 | c.1137G>A (p.Trp379Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077952G>C | CA392865500 | KBTBD13 | c.1137G>C (p.Trp379Cys)
| |
15 | g.65077952G= | CA2183441190 | KBTBD13 | c.1137G= (p.Trp379=)
| |
15 | g.65077952G>T | CA392865501 | KBTBD13 | c.1137G>T (p.Trp379Cys)
| |
15 | g.65077953A= | CA2183441192 | KBTBD13 | c.1138A= (p.Thr380=)
| |
15 | g.65077953A>C | CA392865502 | KBTBD13 | c.1138A>C (p.Thr380Pro)
| |
15 | g.65077953A>G | CA7614086 | KBTBD13 | c.1138A>G (p.Thr380Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077953A>T | CA392865503 | KBTBD13 | c.1138A>T (p.Thr380Ser)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077954C>A | CA392865504 | KBTBD13 | c.1139C>A (p.Thr380Lys)
| |
15 | g.65077954C= | CA2183441194 | KBTBD13 | c.1139C= (p.Thr380=)
| |
15 | g.65077954C>G | CA392865505 | KBTBD13 | c.1139C>G (p.Thr380Arg)
| gnomAD v4 |
15 | g.65077954C>T | CA7614087 | KBTBD13 | c.1139C>T (p.Thr380Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077955G>A | CA7614088 | KBTBD13 | c.1140G>A (p.Thr380=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
15 | g.65077955G>C | CA271504731 | KBTBD13 | c.1140G>C (p.Thr380=)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077955G= | CA2183441199 | KBTBD13 | c.1140G= (p.Thr380=)
| |
15 | g.65077955G>T | CA490899366 | KBTBD13 | c.1140G>T (p.Thr380=)
| gnomAD v4 |
15 | g.65077955_65077959delinsGGCGC | CA2183441197 | KBTBD13 | c.1140_1144delinsGGCGC (p.Thr380=)
| |
15 | g.65077956G>A | CA392865506 | KBTBD13 | c.1141G>A (p.Ala381Thr)
| |
15 | g.65077956G>C | CA271504736 | KBTBD13 | c.1141G>C (p.Ala381Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077956G= | CA2183441201 | KBTBD13 | c.1141G= (p.Ala381=)
| |
15 | g.65077956G>T | CA392865507 | KBTBD13 | c.1141G>T (p.Ala381Ser)
| |
15 | g.65077956_65077959del | CA618956884 | KBTBD13 | c.1141_1144del (p.Ala381CysfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077957C>A | CA392865508 | KBTBD13 | c.1142C>A (p.Ala381Glu)
| ClinVar |
15 | g.65077957C= | CA2183441203 | KBTBD13 | c.1142C= (p.Ala381=)
| |
15 | g.65077957C>G | CA392865509 | KBTBD13 | c.1142C>G (p.Ala381Gly)
| |
15 | g.65077957C>T | CA392865511 | KBTBD13 | c.1142C>T (p.Ala381Val)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077958G>A | CA490899367 | KBTBD13 | c.1143G>A (p.Ala381=)
| gnomAD v4 |
15 | g.65077958G>C | CA490899368 | KBTBD13 | c.1143G>C (p.Ala381=)
| |
15 | g.65077958G= | CA2183441205 | KBTBD13 | c.1143G= (p.Ala381=)
| |
15 | g.65077958G>T | CA490899369 | KBTBD13 | c.1143G>T (p.Ala381=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077959C>A | CA392865514 | KBTBD13 | c.1144C>A (p.Leu382Met)
| |
15 | g.65077959C>G | CA392865517 | KBTBD13 | c.1144C>G (p.Leu382Val)
| |
15 | g.65077959C>T | CA490899370 | KBTBD13 | c.1144C>T (p.Leu382=)
| |
15 | g.65077960T>A | CA392865519 | KBTBD13 | c.1145T>A (p.Leu382Gln)
| |
15 | g.65077960T>C | CA271504737 | KBTBD13 | c.1145T>C (p.Leu382Pro)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077960T>G | CA392865523 | KBTBD13 | c.1145T>G (p.Leu382Arg)
| |
15 | g.65077960T= | CA2183441207 | KBTBD13 | c.1145T= (p.Leu382=)
| |
15 | g.65077960_65077964delinsTGCCC | CA2183441208 | KBTBD13 | c.1145_1149delinsTGCCC (p.Leu382=)
| |
15 | g.65077961G>A | CA490899375 | KBTBD13 | c.1146G>A (p.Leu382=)
| gnomAD v4 |
15 | g.65077961G>C | CA490899373 | KBTBD13 | c.1146G>C (p.Leu382=)
| |
15 | g.65077961G>T | CA490899371 | KBTBD13 | c.1146G>T (p.Leu382=)
| gnomAD v4 |
15 | g.65077962_65077965del | CA618956885 | KBTBD13 | c.1147_1150del (p.Pro383AlafsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077962C>A | CA392865528 | KBTBD13 | c.1147C>A (p.Pro383Thr)
| |
15 | g.65077962C= | CA2183441210 | KBTBD13 | c.1147C= (p.Pro383=)
| |
15 | g.65077962C>G | CA392865532 | KBTBD13 | c.1147C>G (p.Pro383Ala)
| |
15 | g.65077962C>T | CA392865530 | KBTBD13 | c.1147C>T (p.Pro383Ser)
| dbSNP gnomAD v2 |
15 | g.65077963C>A | CA392865536 | KBTBD13 | c.1148C>A (p.Pro383His)
| |
15 | g.65077963C>G | CA392865538 | KBTBD13 | c.1148C>G (p.Pro383Arg)
| |
15 | g.65077963C>T | CA392865541 | KBTBD13 | c.1148C>T (p.Pro383Leu)
| |
15 | g.65077964C>A | CA490899377 | KBTBD13 | c.1149C>A (p.Pro383=)
| |
15 | g.65077964C= | CA2183441212 | KBTBD13 | c.1149C= (p.Pro383=)
| |
15 | g.65077964C>G | CA7614089 | KBTBD13 | c.1149C>G (p.Pro383=)
| dbSNP ExAC gnomAD v2 |
15 | g.65077964C>T | CA490899378 | KBTBD13 | c.1149C>T (p.Pro383=)
| gnomAD v4 |
15 | g.65077965G>A | CA7614090 | KBTBD13 | c.1150G>A (p.Gly384Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077965G>C | CA392865547 | KBTBD13 | c.1150G>C (p.Gly384Arg)
| |
15 | g.65077965G= | CA2183441214 | KBTBD13 | c.1150G= (p.Gly384=)
| |
15 | g.65077965G>T | CA7614091 | KBTBD13 | c.1150G>T (p.Gly384Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077966G>A | CA271504743 | KBTBD13 | c.1151G>A (p.Gly384Asp)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077966G>C | CA392865553 | KBTBD13 | c.1151G>C (p.Gly384Ala)
| gnomAD v4 |
15 | g.65077966G= | CA2183441216 | KBTBD13 | c.1151G= (p.Gly384=)
| |
15 | g.65077966G>T | CA392865556 | KBTBD13 | c.1151G>T (p.Gly384Val)
| gnomAD v4 |
15 | g.65077967C>A | CA490899382 | KBTBD13 | c.1152C>A (p.Gly384=)
| |
15 | g.65077967C>G | CA490899384 | KBTBD13 | c.1152C>G (p.Gly384=)
| |
15 | g.65077967C>T | CA490899383 | KBTBD13 | c.1152C>T (p.Gly384=)
| gnomAD v4 |
15 | g.65077968C>A | CA392865559 | KBTBD13 | c.1153C>A (p.Gln385Lys)
| |
15 | g.65077968C= | CA2183441218 | KBTBD13 | c.1153C= (p.Gln385=)
| |
15 | g.65077968C>G | CA392865561 | KBTBD13 | c.1153C>G (p.Gln385Glu)
| dbSNP |
15 | g.65077968C>T | CA271504749 | KBTBD13 | c.1153C>T (p.Gln385Ter)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077969A>C | CA392865569 | KBTBD13 | c.1154A>C (p.Gln385Pro)
| |
15 | g.65077969A>G | CA392865565 | KBTBD13 | c.1154A>G (p.Gln385Arg)
| |
15 | g.65077969A>T | CA392865567 | KBTBD13 | c.1154A>T (p.Gln385Leu)
| gnomAD v4 |
15 | g.65077970G>A | CA490899387 | KBTBD13 | c.1155G>A (p.Gln385=)
| |
15 | g.65077970G>C | CA392865572 | KBTBD13 | c.1155G>C (p.Gln385His)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077970G= | CA2183441220 | KBTBD13 | c.1155G= (p.Gln385=)
| |
15 | g.65077970G>T | CA392865574 | KBTBD13 | c.1155G>T (p.Gln385His)
| gnomAD v4 |
15 | g.65077971T>A | CA392865578 | KBTBD13 | c.1156T>A (p.Phe386Ile)
| |
15 | g.65077971T>C | CA392865580 | KBTBD13 | c.1156T>C (p.Phe386Leu)
| dbSNP |
15 | g.65077971T>G | CA392865582 | KBTBD13 | c.1156T>G (p.Phe386Val)
| gnomAD v4 |
15 | g.65077971T= | CA2183441222 | KBTBD13 | c.1156T= (p.Phe386=)
| |
15 | g.65077972T>A | CA392865585 | KBTBD13 | c.1157T>A (p.Phe386Tyr)
| |
15 | g.65077972T>C | CA392865588 | KBTBD13 | c.1157T>C (p.Phe386Ser)
| |
15 | g.65077972T>G | CA392865590 | KBTBD13 | c.1157T>G (p.Phe386Cys)
| |
15 | g.65077974_65077976del | CA2628987832 | KBTBD13 | c.1159_1161del (p.Val387del)
| gnomAD v4 |
15 | g.65077973C>A | CA392865593 | KBTBD13 | c.1158C>A (p.Phe386Leu)
| gnomAD v4 |
15 | g.65077973C= | CA2183441224 | KBTBD13 | c.1158C= (p.Phe386=)
| |
15 | g.65077973C>G | CA392865595 | KBTBD13 | c.1158C>G (p.Phe386Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077973C>T | CA7614092 | KBTBD13 | c.1158C>T (p.Phe386=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077974G>A | CA392865604 | KBTBD13 | c.1159G>A (p.Val387Ile)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077974G>C | CA392865601 | KBTBD13 | c.1159G>C (p.Val387Leu)
| |
15 | g.65077974G= | CA2183441227 | KBTBD13 | c.1159G= (p.Val387=)
| |
15 | g.65077974G>T | CA392865599 | KBTBD13 | c.1159G>T (p.Val387Phe)
| |
15 | g.65077975T>A | CA392865607 | KBTBD13 | c.1160T>A (p.Val387Asp)
| |
15 | g.65077975T>C | CA392865611 | KBTBD13 | c.1160T>C (p.Val387Ala)
| |
15 | g.65077975T>G | CA392865609 | KBTBD13 | c.1160T>G (p.Val387Gly)
| dbSNP |
15 | g.65077975T= | CA2183441230 | KBTBD13 | c.1160T= (p.Val387=)
| |
15 | g.65077976C>A | CA490899391 | KBTBD13 | c.1161C>A (p.Val387=)
| |
15 | g.65077976C>G | CA490899392 | KBTBD13 | c.1161C>G (p.Val387=)
| |
15 | g.65077976C>T | CA490899390 | KBTBD13 | c.1161C>T (p.Val387=)
| |
15 | g.65077977A>C | CA392865615 | KBTBD13 | c.1162A>C (p.Asn388His)
| |
15 | g.65077977A>G | CA392865620 | KBTBD13 | c.1162A>G (p.Asn388Asp)
| |
15 | g.65077977A>T | CA392865617 | KBTBD13 | c.1162A>T (p.Asn388Tyr)
| |
15 | g.65077978A= | CA2183441233 | KBTBD13 | c.1163A= (p.Asn388=)
| |
15 | g.65077978A>C | CA392865623 | KBTBD13 | c.1163A>C (p.Asn388Thr)
| |
15 | g.65077978A>G | CA392865625 | KBTBD13 | c.1163A>G (p.Asn388Ser)
| ClinVar dbSNP gnomAD v4 |
15 | g.65077978A>T | CA392865626 | KBTBD13 | c.1163A>T (p.Asn388Ile)
| |
15 | g.65077979C>A | CA392865628 | KBTBD13 | c.1164C>A (p.Asn388Lys)
| |
15 | g.65077979C>G | CA392865631 | KBTBD13 | c.1164C>G (p.Asn388Lys)
| |
15 | g.65077979C>T | CA490899397 | KBTBD13 | c.1164C>T (p.Asn388=)
| |
15 | g.65077980A= | CA2183441236 | KBTBD13 | c.1165A= (p.Ser389=)
| |
15 | g.65077980A>C | CA392865633 | KBTBD13 | c.1165A>C (p.Ser389Arg)
| |
15 | g.65077980A>G | CA392865635 | KBTBD13 | c.1165A>G (p.Ser389Gly)
| dbSNP gnomAD v4 |
15 | g.65077980A>T | CA271504758 | KBTBD13 | c.1165A>T (p.Ser389Cys)
| dbSNP gnomAD v4 |
15 | g.65077981G>A | CA7614093 | KBTBD13 | c.1166G>A (p.Ser389Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077981G>C | CA7614094 | KBTBD13 | c.1166G>C (p.Ser389Thr)
| dbSNP ExAC gnomAD v2 |
15 | g.65077981G= | CA2183441242 | KBTBD13 | c.1166G= (p.Ser389=)
| |
15 | g.65077981G>T | CA392865643 | KBTBD13 | c.1166G>T (p.Ser389Ile)
| gnomAD v4 |
15 | g.65077982C>A | CA392865648 | KBTBD13 | c.1167C>A (p.Ser389Arg)
| gnomAD v4 |
15 | g.65077982C>G | CA392865647 | KBTBD13 | c.1167C>G (p.Ser389Arg)
| |
15 | g.65077982C>T | CA490899402 | KBTBD13 | c.1167C>T (p.Ser389=)
| gnomAD v4 |
15 | g.65077983A>C | CA392865652 | KBTBD13 | c.1168A>C (p.Lys390Gln)
| |
15 | g.65077983A>G | CA392865654 | KBTBD13 | c.1168A>G (p.Lys390Glu)
| |
15 | g.65077983A>T | CA392865657 | KBTBD13 | c.1168A>T (p.Lys390Ter)
| |
15 | g.65077984A>C | CA392865659 | KBTBD13 | c.1169A>C (p.Lys390Thr)
| |
15 | g.65077984A>G | CA392865661 | KBTBD13 | c.1169A>G (p.Lys390Arg)
| |
15 | g.65077984A>T | CA392865663 | KBTBD13 | c.1169A>T (p.Lys390Met)
| |
15 | g.65077985G>A | CA490899407 | KBTBD13 | c.1170G>A (p.Lys390=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077985G>C | CA392865665 | KBTBD13 | c.1170G>C (p.Lys390Asn)
| ClinVar dbSNP |
15 | g.65077985G= | CA2183441245 | KBTBD13 | c.1170G= (p.Lys390=)
| |
15 | g.65077985G>T | CA392865667 | KBTBD13 | c.1170G>T (p.Lys390Asn)
| ClinVar gnomAD v4 |
15 | g.65077986G>A | CA392865669 | KBTBD13 | c.1171G>A (p.Gly391Arg)
| ClinVar COSMIC |
15 | g.65077986G>C | CA392865671 | KBTBD13 | c.1171G>C (p.Gly391Arg)
| |
15 | g.65077986G>T | CA392865673 | KBTBD13 | c.1171G>T (p.Gly391Ter)
| gnomAD v4 |
15 | g.65077987G>A | CA392865677 | KBTBD13 | c.1172G>A (p.Gly391Glu)
| |
15 | g.65077987G>C | CA392865679 | KBTBD13 | c.1172G>C (p.Gly391Ala)
| |
15 | g.65077987G>T | CA392865675 | KBTBD13 | c.1172G>T (p.Gly391Val)
| gnomAD v4 |
15 | g.65077988A= | CA2183441247 | KBTBD13 | c.1173A= (p.Gly391=)
| |
15 | g.65077988A>C | CA490899408 | KBTBD13 | c.1173A>C (p.Gly391=)
| dbSNP |
15 | g.65077988A>G | CA490899411 | KBTBD13 | c.1173A>G (p.Gly391=)
| |
15 | g.65077988A>T | CA490899410 | KBTBD13 | c.1173A>T (p.Gly391=)
| |
15 | g.65077989G>A | CA7614095 | KBTBD13 | c.1174G>A (p.Ala392Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077989G>C | CA392865685 | KBTBD13 | c.1174G>C (p.Ala392Pro)
| |
15 | g.65077989G= | CA2183441249 | KBTBD13 | c.1174G= (p.Ala392=)
| |
15 | g.65077989G>T | CA7614096 | KBTBD13 | c.1174G>T (p.Ala392Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077990C>A | CA392865691 | KBTBD13 | c.1175C>A (p.Ala392Glu)
| gnomAD v4 |
15 | g.65077990C= | CA2183441252 | KBTBD13 | c.1175C= (p.Ala392=)
| |
15 | g.65077990C>G | CA392865692 | KBTBD13 | c.1175C>G (p.Ala392Gly)
| dbSNP |
15 | g.65077990C>T | CA392865694 | KBTBD13 | c.1175C>T (p.Ala392Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.65077991G>A | CA271504781 | KBTBD13 | c.1176G>A (p.Ala392=)
| dbSNP gnomAD v4 |
15 | g.65077991G>C | CA490899413 | KBTBD13 | c.1176G>C (p.Ala392=)
| |
15 | g.65077991G= | CA2183441258 | KBTBD13 | c.1176G= (p.Ala392=)
| |
15 | g.65077991G>T | CA490899414 | KBTBD13 | c.1176G>T (p.Ala392=)
| gnomAD v4 |
15 | g.65077992C>A | CA392865697 | KBTBD13 | c.1177C>A (p.Leu393Ile)
| |
15 | g.65077992C= | CA2183441260 | KBTBD13 | c.1177C= (p.Leu393=)
| |
15 | g.65077992C>G | CA392865700 | KBTBD13 | c.1177C>G (p.Leu393Val)
| |
15 | g.65077992C>T | CA392865702 | KBTBD13 | c.1177C>T (p.Leu393Phe)
| dbSNP gnomAD v4 |
15 | g.65077993T>A | CA392865705 | KBTBD13 | c.1178T>A (p.Leu393His)
| |
15 | g.65077993T>C | CA392865707 | KBTBD13 | c.1178T>C (p.Leu393Pro)
| dbSNP gnomAD v4 |
15 | g.65077993T>G | CA392865710 | KBTBD13 | c.1178T>G (p.Leu393Arg)
| |
15 | g.65077993T= | CA2183441262 | KBTBD13 | c.1178T= (p.Leu393=)
| |
15 | g.65077994C>A | CA490899419 | KBTBD13 | c.1179C>A (p.Leu393=)
| gnomAD v4 |
15 | g.65077994C= | CA2183441264 | KBTBD13 | c.1179C= (p.Leu393=)
| |
15 | g.65077994C>G | CA490899420 | KBTBD13 | c.1179C>G (p.Leu393=)
| |
15 | g.65077994C>T | CA490899421 | KBTBD13 | c.1179C>T (p.Leu393=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.65077995T>A | CA392865718 | KBTBD13 | c.1180T>A (p.Phe394Ile)
| |
15 | g.65077995T>C | CA392865713 | KBTBD13 | c.1180T>C (p.Phe394Leu)
| |
15 | g.65077995T>G | CA392865716 | KBTBD13 | c.1180T>G (p.Phe394Val)
| |
15 | g.65077996T>A | CA392865721 | KBTBD13 | c.1181T>A (p.Phe394Tyr)
| |
15 | g.65077996T>C | CA392865723 | KBTBD13 | c.1181T>C (p.Phe394Ser)
| |
15 | g.65077996T>G | CA392865725 | KBTBD13 | c.1181T>G (p.Phe394Cys)
| |
15 | g.65077996_65077997insTTTTAATGA | CA2512159726 | KBTBD13 | c.1181_1182insTTTTAATGA (p.Phe394_Thr395insPheAsnAsp)
| |
15 | g.65077997C>A | CA392865728 | KBTBD13 | c.1182C>A (p.Phe394Leu)
| |
15 | g.65077997C= | CA2183441266 | KBTBD13 | c.1182C= (p.Phe394=)
| |
15 | g.65077997C>G | CA7614097 | KBTBD13 | c.1182C>G (p.Phe394Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077997C>T | CA490899425 | KBTBD13 | c.1182C>T (p.Phe394=)
| |
15 | g.65077998A= | CA2183441274 | KBTBD13 | c.1183A= (p.Thr395=)
| |
15 | g.65077998A>C | CA392865735 | KBTBD13 | c.1183A>C (p.Thr395Pro)
| ClinVar dbSNP |
15 | g.65077998A>G | CA392865737 | KBTBD13 | c.1183A>G (p.Thr395Ala)
| |
15 | g.65077998A>T | CA392865742 | KBTBD13 | c.1183A>T (p.Thr395Ser)
| |
15 | g.65077999C>A | CA392865747 | KBTBD13 | c.1184C>A (p.Thr395Lys)
| dbSNP |
15 | g.65077999C= | CA2183441281 | KBTBD13 | c.1184C= (p.Thr395=)
| |
15 | g.65077999C>G | CA7614099 | KBTBD13 | c.1184C>G (p.Thr395Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077999C>T | CA7614098 | KBTBD13 | c.1184C>T (p.Thr395Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65078000G>A | CA490899431 | KBTBD13 | c.1185G>A (p.Thr395=)
| gnomAD v4 |
15 | g.65078000G>C | CA7614100 | KBTBD13 | c.1185G>C (p.Thr395=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65078000G= | CA2183441285 | KBTBD13 | c.1185G= (p.Thr395=)
| |
15 | g.65078000G>T | CA490899432 | KBTBD13 | c.1185G>T (p.Thr395=)
| gnomAD v4 |
15 | g.65078001G>A | CA392865771 | KBTBD13 | c.1186G>A (p.Ala396Thr)
| |
15 | g.65078001G>C | CA392865766 | KBTBD13 | c.1186G>C (p.Ala396Pro)
| |
15 | g.65078001G= | CA2183441287 | KBTBD13 | c.1186G= (p.Ala396=)
| |
15 | g.65078001G>T | CA392865759 | KBTBD13 | c.1186G>T (p.Ala396Ser)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65078002C>A | CA392865776 | KBTBD13 | c.1187C>A (p.Ala396Asp)
| |
15 | g.65078002C= | CA2183441289 | KBTBD13 | c.1187C= (p.Ala396=)
| |
15 | g.65078002C>G | CA392865781 | KBTBD13 | c.1187C>G (p.Ala396Gly)
| |
15 | g.65078002C>T | CA392865779 | KBTBD13 | c.1187C>T (p.Ala396Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65078003C>A | CA490899433 | KBTBD13 | c.1188C>A (p.Ala396=)
| gnomAD v4 |
15 | g.65078003C>G | CA490899434 | KBTBD13 | c.1188C>G (p.Ala396=)
| gnomAD v4 |
15 | g.65078003C>T | CA490899436 | KBTBD13 | c.1188C>T (p.Ala396=)
| gnomAD v4 |
15 | g.65078004G>A | CA392865787 | KBTBD13 | c.1189G>A (p.Val397Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65078004G>C | CA392865789 | KBTBD13 | c.1189G>C (p.Val397Leu)
| |
15 | g.65078004G= | CA2183441292 | KBTBD13 | c.1189G= (p.Val397=)
| |
15 | g.65078004G>T | CA392865795 | KBTBD13 | c.1189G>T (p.Val397Leu)
| gnomAD v4 |
15 | g.65078005T>A | CA392865800 | KBTBD13 | c.1190T>A (p.Val397Glu)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65078005T>C | CA392865805 | KBTBD13 | c.1190T>C (p.Val397Ala)
| |
15 | g.65078005T>G | CA271504801 | KBTBD13 | c.1190T>G (p.Val397Gly)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65078005T= | CA2183441296 | KBTBD13 | c.1190T= (p.Val397=)
| |
15 | g.65078006G>A | CA490899440 | KBTBD13 | c.1191G>A (p.Val397=)
| gnomAD v4 |
15 | g.65078006G>C | CA7614101 | KBTBD13 | c.1191G>C (p.Val397=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65078006G= | CA2183441301 | KBTBD13 | c.1191G= (p.Val397=)
| |
15 | g.65078006G>T | CA490899441 | KBTBD13 | c.1191G>T (p.Val397=)
| gnomAD v4 |
15 | g.65078007G>A | CA271504812 | KBTBD13 | c.1192G>A (p.Val398Met)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65078007G>C | CA392865818 | KBTBD13 | c.1192G>C (p.Val398Leu)
| |
15 | g.65078007G= | CA2183441307 | KBTBD13 | c.1192G= (p.Val398=)
| |
15 | g.65078007G>T | CA392865820 | KBTBD13 | c.1192G>T (p.Val398Leu)
| gnomAD v4 |
15 | g.65078008T>A | CA392865825 | KBTBD13 | c.1193T>A (p.Val398Glu)
| gnomAD v4 |
15 | g.65078008T>C | CA392865826 | KBTBD13 | c.1193T>C (p.Val398Ala)
| gnomAD v4 |
15 | g.65078008T>G | CA392865830 | KBTBD13 | c.1193T>G (p.Val398Gly)
| gnomAD v4 |
15 | g.65078009G>A | CA490899444 | KBTBD13 | c.1194G>A (p.Val398=)
| dbSNP gnomAD v2 |
15 | g.65078009G>C | CA490899445 | KBTBD13 | c.1194G>C (p.Val398=)
| dbSNP |
15 | g.65078009G= | CA2183441310 | KBTBD13 | c.1194G= (p.Val398=)
| |
15 | g.65078009G>T | CA490899446 | KBTBD13 | c.1194G>T (p.Val398=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65078009_65078010insT | CA2183441313 | KBTBD13 | c.1194_1195insT (p.Arg399SerfsTer3)
| dbSNP |
15 | g.65078010C>A | CA392865835 | KBTBD13 | c.1195C>A (p.Arg399Ser)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65078010C= | CA2183441314 | KBTBD13 | c.1195C= (p.Arg399=)
| |
15 | g.65078010C>G | CA392865839 | KBTBD13 | c.1195C>G (p.Arg399Gly)
| |
15 | g.65078010C>T | CA7614102 | KBTBD13 | c.1195C>T (p.Arg399Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65078011G>A | CA392865845 | KBTBD13 | c.1196G>A (p.Arg399His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65078011G>C | CA392865848 | KBTBD13 | c.1196G>C (p.Arg399Pro)
| gnomAD v4 |
15 | g.65078011G= | CA2183441319 | KBTBD13 | c.1196G= (p.Arg399=)
| |
15 | g.65078011G>T | CA392865850 | KBTBD13 | c.1196G>T (p.Arg399Leu)
| dbSNP gnomAD v4 |
15 | g.65078012C>A | CA490899448 | KBTBD13 | c.1197C>A (p.Arg399=)
| |
15 | g.65078012C= | CA2183441323 | KBTBD13 | c.1197C= (p.Arg399=)
| |
15 | g.65078012C>G | CA490899449 | KBTBD13 | c.1197C>G (p.Arg399=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65078012C>T | CA153234 | KBTBD13 | c.1197C>T (p.Arg399=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65078013G>A | CA392865867 | KBTBD13 | c.1198G>A (p.Gly400Ser)
| |
15 | g.65078013G>C | CA392865869 | KBTBD13 | c.1198G>C (p.Gly400Arg)
| |
15 | g.65078013G>T | CA392865871 | KBTBD13 | c.1198G>T (p.Gly400Cys)
| gnomAD v4 |
15 | g.65078014G>A | CA392865873 | KBTBD13 | c.1199G>A (p.Gly400Asp)
| |
15 | g.65078014G>C | CA392865875 | KBTBD13 | c.1199G>C (p.Gly400Ala)
| |
15 | g.65078014G>T | CA392865878 | KBTBD13 | c.1199G>T (p.Gly400Val)
| gnomAD v4 |
15 | g.65078015T>A | CA490899450 | KBTBD13 | c.1200T>A (p.Gly400=)
| gnomAD v4 |
15 | g.65078015T>C | CA153237 | KBTBD13 | c.1200T>C (p.Gly400=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65078015T>G | CA490899451 | KBTBD13 | c.1200T>G (p.Gly400=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65078015T= | CA2183441328 | KBTBD13 | c.1200T= (p.Gly400=)
| |
15 | g.65078016G>A | CA392865893 | KBTBD13 | c.1201G>A (p.Asp401Asn)
| gnomAD v4 |
15 | g.65078016G>C | CA392865886 | KBTBD13 | c.1201G>C (p.Asp401His)
| |
15 | g.65078016G>T | CA392865889 | KBTBD13 | c.1201G>T (p.Asp401Tyr)
| gnomAD v4 |
15 | g.65078016_65078017insGCGGCGGAGGACGAGCTGCTGCAGGCCGTGGAGTGCGGCG | CA970811459 | KBTBD13 | c.1201_1202insGCGGCGGAGGACGAGCTGCTGCAGGCCGTGGAGTGCGGCG (p.Asp401GlyfsTer?)
| gnomAD v3 gnomAD v4 |
15 | g.65078017A= | CA2183441333 | KBTBD13 | c.1202A= (p.Asp401=)
| |
15 | g.65078017A>C | CA392865905 | KBTBD13 | c.1202A>C (p.Asp401Ala)
| |
15 | g.65078017A>G | CA392865907 | KBTBD13 | c.1202A>G (p.Asp401Gly)
| dbSNP |
15 | g.65078017A>T | CA392865910 | KBTBD13 | c.1202A>T (p.Asp401Val)
| |
15 | g.65078018C>A | CA392865913 | KBTBD13 | c.1203C>A (p.Asp401Glu)
| dbSNP gnomAD v4 |
15 | g.65078018C= | CA2183441335 | KBTBD13 | c.1203C= (p.Asp401=)
| |
15 | g.65078018C>G | CA392865917 | KBTBD13 | c.1203C>G (p.Asp401Glu)
| |
15 | g.65078018C>T | CA490899455 | KBTBD13 | c.1203C>T (p.Asp401=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65078019A>C | CA392865924 | KBTBD13 | c.1204A>C (p.Thr402Pro)
| |
15 | g.65078019A>G | CA392865926 | KBTBD13 | c.1204A>G (p.Thr402Ala)
| gnomAD v4 |
15 | g.65078019A>T | CA392865928 | KBTBD13 | c.1204A>T (p.Thr402Ser)
| |
15 | g.65078020_65078021insGCACTATAC | CA2183441338 | KBTBD13 | c.1205_1206insGCACTATAC (p.Thr402_Val403insHisTyrThr)
| ClinVar dbSNP |
15 | g.65078020C>A | CA392865933 | KBTBD13 | c.1205C>A (p.Thr402Asn)
| |
15 | g.65078020C= | CA2183441341 | KBTBD13 | c.1205C= (p.Thr402=)
| |
15 | g.65078020C>G | CA392865936 | KBTBD13 | c.1205C>G (p.Thr402Ser)
| |
15 | g.65078020C>T | CA271504840 | KBTBD13 | c.1205C>T (p.Thr402Ile)
| dbSNP gnomAD v4 |
15 | g.65078020_65078021insG | CA618956886 | KBTBD13 | c.1205_1206insG (p.Val403ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65078021C>A | CA490899456 | KBTBD13 | c.1206C>A (p.Thr402=)
| ClinVar gnomAD v4 |
15 | g.65078021C= | CA2183441347 | KBTBD13 | c.1206C= (p.Thr402=)
| |
15 | g.65078021C>G | CA490899457 | KBTBD13 | c.1206C>G (p.Thr402=)
| ClinVar dbSNP gnomAD v4 |
15 | g.65078021C>T | CA490899458 | KBTBD13 | c.1206C>T (p.Thr402=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65078021_65078022insACTATACG | CA618956887 | KBTBD13 | c.1206_1207insACTATACG (p.Val403ThrfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65078022G>A | CA392865952 | KBTBD13 | c.1207G>A (p.Val403Ile)
| dbSNP gnomAD v4 |
15 | g.65078022G>C | CA392865942 | KBTBD13 | c.1207G>C (p.Val403Leu)
| |
15 | g.65078022G= | CA2183441349 | KBTBD13 | c.1207G= (p.Val403=)
| |
15 | g.65078022G>T | CA392865945 | KBTBD13 | c.1207G>T (p.Val403Phe)
| gnomAD v4 |
15 | g.65078023T>A | CA392865955 | KBTBD13 | c.1208T>A (p.Val403Asp)
| |
15 | g.65078023T>C | CA392865957 | KBTBD13 | c.1208T>C (p.Val403Ala)
| |
15 | g.65078023T>G | CA392865960 | KBTBD13 | c.1208T>G (p.Val403Gly)
| |
15 | g.65078024C>A | CA490899459 | KBTBD13 | c.1209C>A (p.Val403=)
| gnomAD v4 |
15 | g.65078024C= | CA2183441352 | KBTBD13 | c.1209C= (p.Val403=)
| |
15 | g.65078024C>G | CA490899460 | KBTBD13 | c.1209C>G (p.Val403=)
| ClinVar dbSNP |
15 | g.65078024C>T | CA7614103 | KBTBD13 | c.1209C>T (p.Val403=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65078025T>A | CA392866845 | KBTBD13 | c.1210T>A (p.Tyr404Asn)
| |
15 | g.65078025T>C | CA392866847 | KBTBD13 | c.1210T>C (p.Tyr404His)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65078025T>G | CA392866849 | KBTBD13 | c.1210T>G (p.Tyr404Asp)
| |
15 | g.65078025T= | CA2183441354 | KBTBD13 | c.1210T= (p.Tyr404=)
| |
15 | g.65078026A= | CA2183441358 | KBTBD13 | c.1211A= (p.Tyr404=)
| |
15 | g.65078026A>C | CA392866850 | KBTBD13 | c.1211A>C (p.Tyr404Ser)
| gnomAD v4 |
15 | g.65078026A>G | CA7614104 | KBTBD13 | c.1211A>G (p.Tyr404Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65078026A>T | CA392866853 | KBTBD13 | c.1211A>T (p.Tyr404Phe)
| |
15 | g.65078027T>A | CA392866855 | KBTBD13 | c.1212T>A (p.Tyr404Ter)
| |
15 | g.65078027T>C | CA490828697 | KBTBD13 | c.1212T>C (p.Tyr404=)
| |
15 | g.65078027T>G | CA392866856 | KBTBD13 | c.1212T>G (p.Tyr404Ter)
| |
15 | g.65078028A>C | CA392866860 | KBTBD13 | c.1213A>C (p.Thr405Pro)
| |
15 | g.65078028A>G | CA392866862 | KBTBD13 | c.1213A>G (p.Thr405Ala)
| |
15 | g.65078028A>T | CA392866858 | KBTBD13 | c.1213A>T (p.Thr405Ser)
| |
15 | g.65078029C>A | CA392866866 | KBTBD13 | c.1214C>A (p.Thr405Lys)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65078029C= | CA2183441360 | KBTBD13 | c.1214C= (p.Thr405=)
| |
15 | g.65078029C>G | CA392866864 | KBTBD13 | c.1214C>G (p.Thr405Arg)
| |
15 | g.65078029C>T | CA7614105 | KBTBD13 | c.1214C>T (p.Thr405Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65078029_65078030delinsCG | CA2183441362 | KBTBD13 | c.1214_1215delinsCG (p.Thr405=)
| |
15 | g.65078030G>A | CA490828699 | KBTBD13 | c.1215G>A (p.Thr405=)
| gnomAD v4 |
15 | g.65078030G>C | CA271504855 | KBTBD13 | c.1215G>C (p.Thr405=)
| dbSNP |
15 | g.65078030G= | CA2183441368 | KBTBD13 | c.1215G= (p.Thr405=)
| |
15 | g.65078030G>T | CA490828700 | KBTBD13 | c.1215G>T (p.Thr405=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65078031del | CA618956941 | KBTBD13 | c.1216del (p.Val406SerfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65078031G>A | CA392866869 | KBTBD13 | c.1216G>A (p.Val406Ile)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65078031G>C | CA392866873 | KBTBD13 | c.1216G>C (p.Val406Leu)
| gnomAD v4 |
15 | g.65078031G= | CA2183441371 | KBTBD13 | c.1216G= (p.Val406=)
| |
15 | g.65078031G>T | CA392866871 | KBTBD13 | c.1216G>T (p.Val406Phe)
| |
15 | g.65078032T>A | CA392866875 | KBTBD13 | c.1217T>A (p.Val406Asp)
| |
15 | g.65078032T>C | CA392866876 | KBTBD13 | c.1217T>C (p.Val406Ala)
| gnomAD v4 |
15 | g.65078032T>G | CA392866879 | KBTBD13 | c.1217T>G (p.Val406Gly)
| gnomAD v4 |
15 | g.65078033C>A | CA490828702 | KBTBD13 | c.1218C>A (p.Val406=)
| |
15 | g.65078033C= | CA2183441373 | KBTBD13 | c.1218C= (p.Val406=)
| |
15 | g.65078033C>G | CA490828703 | KBTBD13 | c.1218C>G (p.Val406=)
| |
15 | g.65078033C>T | CA7614106 | KBTBD13 | c.1218C>T (p.Val406=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65078034A= | CA2183441375 | KBTBD13 | c.1219A= (p.Asn407=)
| |
15 | g.65078034A>C | CA392866883 | KBTBD13 | c.1219A>C (p.Asn407His)
| |
15 | g.65078034A>G | CA392866885 | KBTBD13 | c.1219A>G (p.Asn407Asp)
| dbSNP |
15 | g.65078034A>T | CA392866887 | KBTBD13 | c.1219A>T (p.Asn407Tyr)
| |
15 | g.65078035A= | CA2183441378 | KBTBD13 | c.1220A= (p.Asn407=)
| |
15 | g.65078035A>C | CA392866890 | KBTBD13 | c.1220A>C (p.Asn407Thr)
| |
15 | g.65078035A>G | CA392866891 | KBTBD13 | c.1220A>G (p.Asn407Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65078035A>T | CA392866893 | KBTBD13 | c.1220A>T (p.Asn407Ile)
| |
15 | g.65078036C>A | CA392866895 | KBTBD13 | c.1221C>A (p.Asn407Lys)
| |
15 | g.65078036C= | CA2183441382 | KBTBD13 | c.1221C= (p.Asn407=)
| |
15 | g.65078036C>G | CA392866896 | KBTBD13 | c.1221C>G (p.Asn407Lys)
| |
15 | g.65078036C>T | CA490828704 | KBTBD13 | c.1221C>T (p.Asn407=)
| dbSNP |
15 | g.65078037dup | CA271504861 | KBTBD13 | c.1222dup (p.Arg408ProfsTer?)
| ClinVar dbSNP |
15 | g.65078037C>A | CA7614107 | KBTBD13 | c.1222C>A (p.Arg408Ser)
| dbSNP ExAC gnomAD v4 |
15 | g.65078037C= | CA2183441387 | KBTBD13 | c.1222C= (p.Arg408=)
| |
15 | g.65078037C>G | CA392866901 | KBTBD13 | c.1222C>G (p.Arg408Gly)
| |
15 | g.65078037C>T | CA259981 | KBTBD13 | c.1222C>T (p.Arg408Cys)
| ClinVar dbSNP |