17 | g.80108566del | CA658798978 | GAA | c.1153del (p.Arg385AlafsTer7)
| ClinVar dbSNP |
17 | g.80108565C>A | CA502402415 | GAA | c.1152C>A (p.Thr384=)
| |
17 | g.80108565C>G | CA502402417 | GAA | c.1152C>G (p.Thr384=)
| |
17 | g.80108565C>T | CA502402416 | GAA | c.1152C>T (p.Thr384=)
| |
17 | g.80108566C>A | CA401365059 | GAA | c.1153C>A (p.Arg385Ser)
| |
17 | g.80108566C= | CA2277812830 | GAA | c.1153C= (p.Arg385=)
| |
17 | g.80108566C>G | CA401365058 | GAA | c.1153C>G (p.Arg385Gly)
| |
17 | g.80108566C>T | CA8815183 | GAA | c.1153C>T (p.Arg385Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108567G>A | CA8815184 | GAA | c.1154G>A (p.Arg385His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108567G>C | CA401365060 | GAA | c.1154G>C (p.Arg385Pro)
| |
17 | g.80108567G= | CA2277812831 | GAA | c.1154G= (p.Arg385=)
| |
17 | g.80108567G>T | CA401365061 | GAA | c.1154G>T (p.Arg385Leu)
| gnomAD v4 |
17 | g.80108568C>A | CA502402418 | GAA | c.1155C>A (p.Arg385=)
| COSMIC |
17 | g.80108568C>G | CA502402419 | GAA | c.1155C>G (p.Arg385=)
| ClinVar |
17 | g.80108568C>T | CA502402420 | GAA | c.1155C>T (p.Arg385=)
| ClinVar dbSNP |
17 | g.80108569C>A | CA401365062 | GAA | c.1156C>A (p.Gln386Lys)
| |
17 | g.80108569C= | CA2277812832 | GAA | c.1156C= (p.Gln386=)
| |
17 | g.80108569C>G | CA401365063 | GAA | c.1156C>G (p.Gln386Glu)
| |
17 | g.80108569C>T | CA274049 | GAA | c.1156C>T (p.Gln386Ter)
| ClinVar dbSNP |
17 | g.80108570A= | CA2277812834 | GAA | c.1157A= (p.Gln386=)
| |
17 | g.80108570A>C | CA401365064 | GAA | c.1157A>C (p.Gln386Pro)
| |
17 | g.80108570A>G | CA401365065 | GAA | c.1157A>G (p.Gln386Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108570A>T | CA401365066 | GAA | c.1157A>T (p.Gln386Leu)
| |
17 | g.80108570dup | CA658655614 | GAA | c.1157dup (p.Val387GlyfsTer?)
| |
17 | g.80108570_80108573delinsAGGT | CA2277812833 | GAA | c.1157_1160delinsAGGT (p.Gln386=)
| |
17 | g.80108571G>A | CA502402421 | GAA | c.1158G>A (p.Gln386=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108571G>C | CA401365067 | GAA | c.1158G>C (p.Gln386His)
| |
17 | g.80108571G= | CA2277812835 | GAA | c.1158G= (p.Gln386=)
| |
17 | g.80108571G>T | CA401365068 | GAA | c.1158G>T (p.Gln386His)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108576_80108578del | CA8815185 | GAA | c.1163_1165del (p.Val388del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108572G>A | CA401365070 | GAA | c.1159G>A (p.Val387Met)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108572G>C | CA401365071 | GAA | c.1159G>C (p.Val387Leu)
| gnomAD v4 |
17 | g.80108572G= | CA2277812836 | GAA | c.1159G= (p.Val387=)
| |
17 | g.80108572G>T | CA401365069 | GAA | c.1159G>T (p.Val387Leu)
| |
17 | g.80108573T>A | CA401365074 | GAA | c.1160T>A (p.Val387Glu)
| |
17 | g.80108573T>C | CA401365072 | GAA | c.1160T>C (p.Val387Ala)
| ClinVar gnomAD v4 |
17 | g.80108573T>G | CA401365073 | GAA | c.1160T>G (p.Val387Gly)
| |
17 | g.80108574G>A | CA502402422 | GAA | c.1161G>A (p.Val387=)
| |
17 | g.80108574G>C | CA8815186 | GAA | c.1161G>C (p.Val387=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108574G= | CA2277812837 | GAA | c.1161G= (p.Val387=)
| |
17 | g.80108574G>T | CA502402423 | GAA | c.1161G>T (p.Val387=)
| |
17 | g.80108575G>A | CA8815187 | GAA | c.1162G>A (p.Val388Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108575G>C | CA401365075 | GAA | c.1162G>C (p.Val388Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108575G= | CA2277812838 | GAA | c.1162G= (p.Val388=)
| |
17 | g.80108575G>T | CA401365076 | GAA | c.1162G>T (p.Val388Leu)
| |
17 | g.80108576_80108577del | CA913014093 | GAA | c.1163_1164del (p.Val388GlyfsTer?)
| |
17 | g.80108576T>A | CA401365077 | GAA | c.1163T>A (p.Val388Glu)
| gnomAD v4 |
17 | g.80108576T>C | CA401365078 | GAA | c.1163T>C (p.Val388Ala)
| |
17 | g.80108576T>G | CA401365079 | GAA | c.1163T>G (p.Val388Gly)
| |
17 | g.80108576_80108577delinsTG | CA2277812839 | GAA | c.1163_1164delinsTG (p.Val388=)
| |
17 | g.80108577G>A | CA502402424 | GAA | c.1164G>A (p.Val388=)
| ClinVar dbSNP |
17 | g.80108577G>C | CA502402425 | GAA | c.1164G>C (p.Val388=)
| |
17 | g.80108577G>T | CA502402426 | GAA | c.1164G>T (p.Val388=)
| |
17 | g.80108578del | CA658795242 | GAA | c.1165del (p.Glu389ArgfsTer3)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108578G>A | CA8815188 | GAA | c.1165G>A (p.Glu389Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108578G>C | CA401365080 | GAA | c.1165G>C (p.Glu389Gln)
| |
17 | g.80108578G= | CA2277812840 | GAA | c.1165G= (p.Glu389=)
| |
17 | g.80108578G>T | CA401365081 | GAA | c.1165G>T (p.Glu389Ter)
| |
17 | g.80108579A>C | CA401365084 | GAA | c.1166A>C (p.Glu389Ala)
| |
17 | g.80108579A>G | CA401365082 | GAA | c.1166A>G (p.Glu389Gly)
| |
17 | g.80108579A>T | CA401365083 | GAA | c.1166A>T (p.Glu389Val)
| |
17 | g.80108580G>A | CA502402427 | GAA | c.1167G>A (p.Glu389=)
| |
17 | g.80108580G>C | CA401365085 | GAA | c.1167G>C (p.Glu389Asp)
| |
17 | g.80108580G>T | CA401365086 | GAA | c.1167G>T (p.Glu389Asp)
| |
17 | g.80108581A>C | CA401365087 | GAA | c.1168A>C (p.Asn390His)
| |
17 | g.80108581A>G | CA401365088 | GAA | c.1168A>G (p.Asn390Asp)
| |
17 | g.80108581A>T | CA401365089 | GAA | c.1168A>T (p.Asn390Tyr)
| |
17 | g.80108582A>C | CA401365090 | GAA | c.1169A>C (p.Asn390Thr)
| gnomAD v4 |
17 | g.80108582A>G | CA401365091 | GAA | c.1169A>G (p.Asn390Ser)
| |
17 | g.80108582A>T | CA401365092 | GAA | c.1169A>T (p.Asn390Ile)
| |
17 | g.80108583C>A | CA401365093 | GAA | c.1170C>A (p.Asn390Lys)
| |
17 | g.80108583C= | CA2277812841 | GAA | c.1170C= (p.Asn390=)
| |
17 | g.80108583C>G | CA401365094 | GAA | c.1170C>G (p.Asn390Lys)
| gnomAD v4 |
17 | g.80108583C>T | CA8815189 | GAA | c.1170C>T (p.Asn390=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108584A= | CA2277812842 | GAA | c.1171A= (p.Met391=)
| |
17 | g.80108584A>C | CA401365096 | GAA | c.1171A>C (p.Met391Leu)
| |
17 | g.80108584A>G | CA8815190 | GAA | c.1171A>G (p.Met391Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108584A>T | CA401365095 | GAA | c.1171A>T (p.Met391Leu)
| |
17 | g.80108585T>A | CA401365097 | GAA | c.1172T>A (p.Met391Lys)
| ClinVar |
17 | g.80108585T>C | CA8815191 | GAA | c.1172T>C (p.Met391Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108585T>G | CA401365098 | GAA | c.1172T>G (p.Met391Arg)
| |
17 | g.80108585T= | CA2277812843 | GAA | c.1172T= (p.Met391=)
| |
17 | g.80108586G>A | CA401365099 | GAA | c.1173G>A (p.Met391Ile)
| ClinVar dbSNP COSMIC |
17 | g.80108586G>C | CA401365100 | GAA | c.1173G>C (p.Met391Ile)
| |
17 | g.80108586G>T | CA401365101 | GAA | c.1173G>T (p.Met391Ile)
| |
17 | g.80108587A>C | CA401365104 | GAA | c.1174A>C (p.Thr392Pro)
| |
17 | g.80108587A>G | CA401365102 | GAA | c.1174A>G (p.Thr392Ala)
| COSMIC |
17 | g.80108587A>T | CA401365103 | GAA | c.1174A>T (p.Thr392Ser)
| |
17 | g.80108588C>A | CA401365105 | GAA | c.1175C>A (p.Thr392Asn)
| dbSNP |
17 | g.80108588C= | CA2277812844 | GAA | c.1175C= (p.Thr392=)
| |
17 | g.80108588C>G | CA401365106 | GAA | c.1175C>G (p.Thr392Ser)
| |
17 | g.80108588C>T | CA401365107 | GAA | c.1175C>T (p.Thr392Ile)
| |
17 | g.80108589C>A | CA502402428 | GAA | c.1176C>A (p.Thr392=)
| |
17 | g.80108589C>G | CA502402429 | GAA | c.1176C>G (p.Thr392=)
| |
17 | g.80108589C>T | CA502402430 | GAA | c.1176C>T (p.Thr392=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108590A>C | CA502402431 | GAA | c.1177A>C (p.Arg393=)
| |
17 | g.80108590A>G | CA401365108 | GAA | c.1177A>G (p.Arg393Gly)
| |
17 | g.80108590A>T | CA401365109 | GAA | c.1177A>T (p.Arg393Trp)
| |
17 | g.80108591G>A | CA401365110 | GAA | c.1178G>A (p.Arg393Lys)
| |
17 | g.80108591G>C | CA401365112 | GAA | c.1178G>C (p.Arg393Thr)
| ClinVar dbSNP |
17 | g.80108591G= | CA2277812845 | GAA | c.1178G= (p.Arg393=)
| |
17 | g.80108591G>T | CA401365111 | GAA | c.1178G>T (p.Arg393Met)
| |
17 | g.80108592G>A | CA502402432 | GAA | c.1179G>A (p.Arg393=)
| |
17 | g.80108592G>C | CA401365113 | GAA | c.1179G>C (p.Arg393Ser)
| |
17 | g.80108592G>T | CA401365114 | GAA | c.1179G>T (p.Arg393Ser)
| |
17 | g.80108593G>A | CA294892303 | GAA | c.1180G>A (p.Ala394Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108593G>C | CA401365115 | GAA | c.1180G>C (p.Ala394Pro)
| COSMIC |
17 | g.80108593G= | CA2277812846 | GAA | c.1180G= (p.Ala394=)
| |
17 | g.80108593G>T | CA401365116 | GAA | c.1180G>T (p.Ala394Ser)
| |
17 | g.80108594C>A | CA401365117 | GAA | c.1181C>A (p.Ala394Asp)
| |
17 | g.80108594C>G | CA401365118 | GAA | c.1181C>G (p.Ala394Gly)
| gnomAD v4 |
17 | g.80108594C>T | CA401365119 | GAA | c.1181C>T (p.Ala394Val)
| |
17 | g.80108595C>A | CA502402433 | GAA | c.1182C>A (p.Ala394=)
| |
17 | g.80108595C= | CA2277812847 | GAA | c.1182C= (p.Ala394=)
| |
17 | g.80108595C>G | CA502402434 | GAA | c.1182C>G (p.Ala394=)
| gnomAD v4 |
17 | g.80108595C>T | CA8815192 | GAA | c.1182C>T (p.Ala394=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108596C>A | CA401365120 | GAA | c.1183C>A (p.His395Asn)
| |
17 | g.80108596C>G | CA401365121 | GAA | c.1183C>G (p.His395Asp)
| |
17 | g.80108596C>T | CA401365122 | GAA | c.1183C>T (p.His395Tyr)
| |
17 | g.80108597A= | CA2277812848 | GAA | c.1184A= (p.His395=)
| |
17 | g.80108597A>C | CA401365123 | GAA | c.1184A>C (p.His395Pro)
| gnomAD v4 |
17 | g.80108597A>G | CA401365124 | GAA | c.1184A>G (p.His395Arg)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108597A>T | CA8815193 | GAA | c.1184A>T (p.His395Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108598C>A | CA401365126 | GAA | c.1185C>A (p.His395Gln)
| gnomAD v4 COSMIC |
17 | g.80108598C>G | CA401365125 | GAA | c.1185C>G (p.His395Gln)
| |
17 | g.80108598C>T | CA502402435 | GAA | c.1185C>T (p.His395=)
| ClinVar dbSNP |
17 | g.80108599T>A | CA401365128 | GAA | c.1186T>A (p.Phe396Ile)
| |
17 | g.80108599T>C | CA401365127 | GAA | c.1186T>C (p.Phe396Leu)
| |
17 | g.80108599T>G | CA8815194 | GAA | c.1186T>G (p.Phe396Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108599T= | CA2277812849 | GAA | c.1186T= (p.Phe396=)
| |
17 | g.80108600T>A | CA401365129 | GAA | c.1187T>A (p.Phe396Tyr)
| |
17 | g.80108600T>C | CA401365130 | GAA | c.1187T>C (p.Phe396Ser)
| |
17 | g.80108600T>G | CA401365131 | GAA | c.1187T>G (p.Phe396Cys)
| gnomAD v4 |
17 | g.80108600_80108601delinsTC | CA2277812850 | GAA | c.1187_1188delinsTC (p.Phe396=)
| |
17 | g.80108601C>A | CA401365132 | GAA | c.1188C>A (p.Phe396Leu)
| |
17 | g.80108601C= | CA2277812851 | GAA | c.1188C= (p.Phe396=)
| |
17 | g.80108601C>G | CA8815195 | GAA | c.1188C>G (p.Phe396Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108601C>T | CA502402436 | GAA | c.1188C>T (p.Phe396=)
| ClinVar dbSNP COSMIC |
17 | g.80108605dup | CA16041890 | GAA | c.1192dup (p.Leu398ProfsTer?)
| ClinVar dbSNP |
17 | g.80108605del | CA628018372 | GAA | c.1192del (p.Leu398TrpfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108602C>A | CA401365133 | GAA | c.1189C>A (p.Pro397Thr)
| |
17 | g.80108602C>G | CA401365134 | GAA | c.1189C>G (p.Pro397Ala)
| |
17 | g.80108602C>T | CA401365135 | GAA | c.1189C>T (p.Pro397Ser)
| |
17 | g.80108603C>A | CA401365136 | GAA | c.1190C>A (p.Pro397His)
| |
17 | g.80108603C= | CA2277812852 | GAA | c.1190C= (p.Pro397=)
| |
17 | g.80108603C>G | CA8815196 | GAA | c.1190C>G (p.Pro397Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108603C>T | CA8815197 | GAA | c.1190C>T (p.Pro397Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.80108604C>A | CA502402437 | GAA | c.1191C>A (p.Pro397=)
| |
17 | g.80108604C= | CA2277812853 | GAA | c.1191C= (p.Pro397=)
| |
17 | g.80108604C>G | CA294892311 | GAA | c.1191C>G (p.Pro397=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108604C>T | CA502402438 | GAA | c.1191C>T (p.Pro397=)
| ClinVar gnomAD v4 |
17 | g.80108605C>A | CA8815198 | GAA | c.1192C>A (p.Leu398Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108605C= | CA2277812854 | GAA | c.1192C= (p.Leu398=)
| |
17 | g.80108605C>G | CA401365137 | GAA | c.1192C>G (p.Leu398Val)
| |
17 | g.80108605C>T | CA8815199 | GAA | c.1192C>T (p.Leu398=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108605_80108606delinsCT | CA2277812855 | GAA | c.1192_1193delinsCT (p.Leu398=)
| |
17 | g.80108606del | CA16041891 | GAA | c.1193del (p.Leu398ArgfsTer?)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108606T>A | CA401365138 | GAA | c.1193T>A (p.Leu398Gln)
| |
17 | g.80108606T>C | CA401365139 | GAA | c.1193T>C (p.Leu398Pro)
| ClinVar dbSNP |
17 | g.80108606T>G | CA401365140 | GAA | c.1193T>G (p.Leu398Arg)
| |
17 | g.80108606T= | CA2277812856 | GAA | c.1193T= (p.Leu398=)
| |
17 | g.80108606_80108628delinsTGGTGAGTTGGGGTGGTGGCAGG | CA2277812857 | GAA | c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
| |
17 | g.80108607G>A | CA502402441 | GAA | c.1194G>A (p.Leu398=)
| |
17 | g.80108607G>C | CA502402439 | GAA | c.1194G>C (p.Leu398=)
| |
17 | g.80108607G>T | CA502402440 | GAA | c.1194G>T (p.Leu398=)
| |
17 | g.80108609_80108630del | CA919905431 | GAA | c.1194+2_1194+23del
| dbSNP gnomAD v4 |
17 | g.80108609_80108697del | CA2810576509 | GAA | c.1194+2_1195del
| |
17 | g.80108608G>A | CA401365141 | GAA | c.1194+1G>A (n.1194+1G>A)
| |
17 | g.80108608G>C | CA401365142 | GAA | c.1194+1G>C (n.1194+1G>C)
| |
17 | g.80108608G>T | CA401365143 | GAA | c.1194+1G>T (n.1194+1G>T)
| |
17 | g.80108609T>A | CA401365144 | GAA | c.1194+2T>A (n.1194+2T>A)
| |
17 | g.80108609T>C | CA16041892 | GAA | c.1194+2T>C (n.1194+2T>C)
| ClinVar dbSNP |
17 | g.80108609T>G | CA401365145 | GAA | c.1194+2T>G (n.1194+2T>G)
| ClinVar |
17 | g.80108609T= | CA2277812858 | GAA | c.1194+2T= (n.1194+2T=)
| |
17 | g.80108610G>C | CA247031 | GAA | c.1194+3G>C (n.1194+3G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108610G= | CA2277812859 | GAA | c.1194+3G= (n.1194+3G=)
| |
17 | g.80108610G>T | CA2525810184 | GAA | c.1194+3G>T (n.1194+3G>T)
| ClinVar dbSNP |
17 | g.80108612G>A | CA658795243 | GAA | c.1194+5G>A (n.1194+5G>A)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108612G= | CA2277812860 | GAA | c.1194+5G= (n.1194+5G=)
| |
17 | g.80108613T>C | CA628018373 | GAA | c.1194+6T>C (n.1194+6T>C)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108613T= | CA2277812861 | GAA | c.1194+6T= (n.1194+6T=)
| |
17 | g.80108615G>T | CA2499225005 | GAA | c.1194+8G>T (n.1194+8G>T)
| ClinVar dbSNP |
17 | g.80108618del | CA2573154956 | GAA | c.1194+11del (n.1194+11del)
| ClinVar dbSNP |
17 | g.80108616G>A | CA8815200 | GAA | c.1194+9G>A (n.1194+9G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108616G= | CA2277812862 | GAA | c.1194+9G= (n.1194+9G=)
| |
17 | g.80108616G>T | CA2580095329 | GAA | c.1194+9G>T (n.1194+9G>T)
| ClinVar gnomAD v4 |
17 | g.80108617G>A | CA2573154957 | GAA | c.1194+10G>A (n.1194+10G>A)
| ClinVar dbSNP |
17 | g.80108617G>T | CA2740093941 | GAA | c.1194+10G>T (n.1194+10G>T)
| ClinVar |
17 | g.80108618G= | CA2277812863 | GAA | c.1194+11G= (n.1194+11G=)
| |
17 | g.80108618G>T | CA775512744 | GAA | c.1194+11G>T (n.1194+11G>T)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108619T>A | CA294892362 | GAA | c.1194+12T>A (n.1194+12T>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108619T= | CA2277812864 | GAA | c.1194+12T= (n.1194+12T=)
| |
17 | g.80108620G>A | CA8815201 | GAA | c.1194+13G>A (n.1194+13G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108620G= | CA2277812865 | GAA | c.1194+13G= (n.1194+13G=)
| |
17 | g.80108620G>T | CA2277812866 | GAA | c.1194+13G>T (n.1194+13G>T)
| dbSNP |
17 | g.80108622T>A | CA628018374 | GAA | c.1194+15T>A (n.1194+15T>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108622T>C | CA2697555247 | GAA | c.1194+15T>C (n.1194+15T>C)
| ClinVar |
17 | g.80108622T= | CA2277812868 | GAA | c.1194+15T= (n.1194+15T=)
| |
17 | g.80108622_80108625delinsTGGC | CA2277812867 | GAA | c.1194+15_1194+18delinsTGGC (n.1194+15_1194+18delinsTGGC)
| |
17 | g.80108623G>A | CA2810576512 | GAA | c.1194+16G>A (n.1194+16G>A)
| |
17 | g.80108623_80108625del | CA8815202 | GAA | c.1194+16_1194+18del (n.1194+16_1194+18del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108624G>A | CA2741558922 | GAA | c.1194+17G>A (n.1194+17G>A)
| |
17 | g.80108624G= | CA2277812869 | GAA | c.1194+17G= (n.1194+17G=)
| |
17 | g.80108624G>T | CA8815203 | GAA | c.1194+17G>T (n.1194+17G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108625_80108627del | CA401365146 | GAA | c.1194+18_1194+20del (n.1194+18_1194+20del)
| |
17 | g.80108625C= | CA2277812870 | GAA | c.1194+18C= (n.1194+18C=)
| |
17 | g.80108625C>T | CA628018375 | GAA | c.1194+18C>T (n.1194+18C>T)
| gnomAD v2 |
17 | g.80108626A>G | CA2640286287 | GAA | c.1194+19A>G (n.1194+19A>G)
| gnomAD v4 |
17 | g.80108626dup | CA8815204 | GAA | c.1194+19dup (n.1194+19dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108626_80108627del | CA2640286285 | GAA | c.1194+19_1194+20del (n.1194+19_1194+20del)
| gnomAD v4 |
17 | g.80108627G>A | CA8815205 | GAA | c.1194+20G>A (n.1194+20G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108627G>C | CA2580095330 | GAA | c.1194+20G>C (n.1194+20G>C)
| ClinVar gnomAD v4 |
17 | g.80108627G= | CA2277812871 | GAA | c.1194+20G= (n.1194+20G=)
| |
17 | g.80108630del | CA2640286295 | GAA | c.1194+23del (n.1194+23del)
| gnomAD v4 |
17 | g.80108628G>A | CA2277812873 | GAA | c.1194+21G>A (n.1194+21G>A)
| dbSNP gnomAD v4 |
17 | g.80108628G= | CA2277812872 | GAA | c.1194+21G= (n.1194+21G=)
| |
17 | g.80108630G>A | CA2640286304 | GAA | c.1194+23G>A (n.1194+23G>A)
| gnomAD v4 |
17 | g.80108630G= | CA2277812874 | GAA | c.1194+23G= (n.1194+23G=)
| |
17 | g.80108630G>T | CA628018376 | GAA | c.1194+23G>T (n.1194+23G>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108631A= | CA2277812875 | GAA | c.1194+24A= (n.1194+24A=)
| |
17 | g.80108632G>A | CA986705901 | GAA | c.1194+25G>A (n.1194+25G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108632G>C | CA2598861758 | GAA | c.1194+25G>C (n.1194+25G>C)
| gnomAD v3 gnomAD v4 |
17 | g.80108632G= | CA2277812876 | GAA | c.1194+25G= (n.1194+25G=)
| |
17 | g.80108633dup | CA8815206 | GAA | c.1194+26dup (n.1194+26dup)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108633G>A | CA628018377 | GAA | c.1194+26G>A (n.1194+26G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108633G= | CA2277812877 | GAA | c.1194+26G= (n.1194+26G=)
| |
17 | g.80108634C>A | CA2576414018 | GAA | c.1194+27C>A (n.1194+27C>A)
| |
17 | g.80108635A= | CA2277812878 | GAA | c.1194+28A= (n.1194+28A=)
| |
17 | g.80108635A>G | CA2277812879 | GAA | c.1194+28A>G (n.1194+28A>G)
| dbSNP gnomAD v4 |
17 | g.80108636_80108637delinsAG | CA2277812880 | GAA | c.1194+29_1194+30delinsAG (n.1194+29_1194+30delinsAG)
| |
17 | g.80108640del | CA775512762 | GAA | c.1194+33del (n.1194+33del)
| dbSNP |
17 | g.80108638G>A | CA628018487 | GAA | c.1194+31G>A (n.1194+31G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108638G>C | CA2520855943 | GAA | c.1194+31G>C (n.1194+31G>C)
| |
17 | g.80108638G= | CA2277812881 | GAA | c.1194+31G= (n.1194+31G=)
| |
17 | g.80108639G>A | CA628018488 | GAA | c.1194+32G>A (n.1194+32G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108639G= | CA2277812882 | GAA | c.1194+32G= (n.1194+32G=)
| |
17 | g.80108643G>A | CA628018489 | GAA | c.1194+36G>A (n.1194+36G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108643G>C | CA2576414019 | GAA | c.1194+36G>C (n.1194+36G>C)
| |
17 | g.80108643G= | CA2277812883 | GAA | c.1194+36G= (n.1194+36G=)
| |
17 | g.80108644G>A | CA8815207 | GAA | c.1194+37G>A (n.1194+37G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108644G>C | CA628018492 | GAA | c.1194+37G>C (n.1194+37G>C)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108644G= | CA2277812884 | GAA | c.1194+37G= (n.1194+37G=)
| |
17 | g.80108644G>T | CA2277812885 | GAA | c.1194+37G>T (n.1194+37G>T)
| dbSNP |
17 | g.80108645C= | CA2277812886 | GAA | c.1194+38C= (n.1194+38C=)
| |
17 | g.80108645C>T | CA8815208 | GAA | c.1194+38C>T (n.1194+38C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108646C= | CA2277812887 | GAA | c.1194+39C= (n.1194+39C=)
| |
17 | g.80108646C>T | CA8815209 | GAA | c.1194+39C>T (n.1194+39C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108647G>A | CA8815210 | GAA | c.1194+40G>A (n.1194+40G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108647G= | CA2277812888 | GAA | c.1194+40G= (n.1194+40G=)
| |
17 | g.80108650A= | CA2277812889 | GAA | c.1194+43A= (n.1194+43A=)
| |
17 | g.80108650A>G | CA628018493 | GAA | c.1194+43A>G (n.1194+43A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108651C= | CA2277812890 | GAA | c.1194+44C= (n.1194+44C=)
| |
17 | g.80108651C>G | CA2640286347 | GAA | c.1194+44C>G (n.1194+44C>G)
| gnomAD v4 |
17 | g.80108651C>T | CA8815211 | GAA | c.1194+44C>T (n.1194+44C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108652G>A | CA8815212 | GAA | c.1195-45G>A (n.1195-45G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108652G= | CA2277812891 | GAA | c.1195-45G= (n.1195-45G=)
| |
17 | g.80108653C= | CA2277812892 | GAA | c.1195-44C= (n.1195-44C=)
| |
17 | g.80108653C>T | CA8815213 | GAA | c.1195-44C>T (n.1195-44C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108654G>A | CA8815214 | GAA | c.1195-43G>A (n.1195-43G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108654G>C | CA2640286355 | GAA | c.1195-43G>C (n.1195-43G>C)
| gnomAD v4 |
17 | g.80108654G= | CA2277812893 | GAA | c.1195-43G= (n.1195-43G=)
| |
17 | g.80108655T>C | CA628018495 | GAA | c.1195-42T>C (n.1195-42T>C)
| dbSNP gnomAD v2 |
17 | g.80108655T= | CA2277812894 | GAA | c.1195-42T= (n.1195-42T=)
| |
17 | g.80108659_80108661del | CA2640286358 | GAA | c.1195-38_1195-36del (n.1195-38_1195-36del)
| gnomAD v4 |
17 | g.80108657T>A | CA2640286363 | GAA | c.1195-40T>A (n.1195-40T>A)
| gnomAD v4 |
17 | g.80108657T>G | CA8815215 | GAA | c.1195-40T>G (n.1195-40T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108657T= | CA2277812895 | GAA | c.1195-40T= (n.1195-40T=)
| |
17 | g.80108658C= | CA2277812896 | GAA | c.1195-39C= (n.1195-39C=)
| |
17 | g.80108658C>T | CA8815216 | GAA | c.1195-39C>T (n.1195-39C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108659C>T | CA2576414020 | GAA | c.1195-38C>T (n.1195-38C>T)
| gnomAD v4 |
17 | g.80108661C>T | CA2640286369 | GAA | c.1195-36C>T (n.1195-36C>T)
| gnomAD v4 |
17 | g.80108663G>A | CA628018498 | GAA | c.1195-34G>A (n.1195-34G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108663G= | CA2277812897 | GAA | c.1195-34G= (n.1195-34G=)
| |
17 | g.80108664G>A | CA2277812899 | GAA | c.1195-33G>A (n.1195-33G>A)
| dbSNP |
17 | g.80108664G= | CA2277812898 | GAA | c.1195-33G= (n.1195-33G=)
| |
17 | g.80108665C= | CA2277812900 | GAA | c.1195-32C= (n.1195-32C=)
| |
17 | g.80108665C>T | CA8815217 | GAA | c.1195-32C>T (n.1195-32C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |