| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.147413330A= | CA1409289648 | ZIC1 | c.1147-24A= (n.1147-24A=) n.521+19388A= c.213-24A= | |
| 3 | g.147413330A>G | CA2657205 | ZIC1 | c.1147-24A>G (n.1147-24A>G) n.521+19388A>G c.213-24A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413334del | CA2668109398 | ZIC1 | c.1147-20del (n.1147-20del) n.521+19392del c.213-20del | gnomAD v4 |
| 3 | g.147413334A= | CA1409289649 | ZIC1 | c.1147-20A= (n.1147-20A=) n.521+19392A= c.213-20A= | |
| 3 | g.147413334A>C | CA1409289650 | ZIC1 | c.1147-20A>C (n.1147-20A>C) n.521+19392A>C c.213-20A>C | dbSNP |
| 3 | g.147413334_147413335insT | CA2668109399 | ZIC1 | c.1147-20_1147-19insT (n.1147-20_1147-19insT) n.521+19392_521+19393insT c.213-20_213-19insT | gnomAD v4 |
| 3 | g.147413335C>A | CA2668109400 | ZIC1 | c.1147-19C>A (n.1147-19C>A) n.521+19393C>A c.213-19C>A | gnomAD v4 |
| 3 | g.147413335C= | CA1409289651 | ZIC1 | c.1147-19C= (n.1147-19C=) n.521+19393C= c.213-19C= | |
| 3 | g.147413335C>G | CA2668109401 | ZIC1 | c.1147-19C>G (n.1147-19C>G) n.521+19393C>G c.213-19C>G | gnomAD v4 |
| 3 | g.147413335C>T | CA546921935 | ZIC1 | c.1147-19C>T (n.1147-19C>T) n.521+19393C>T c.213-19C>T | dbSNP gnomAD v2 |
| 3 | g.147413336G>A | CA2668109402 | ZIC1 | c.1147-18G>A (n.1147-18G>A) n.521+19394G>A c.213-18G>A | gnomAD v4 |
| 3 | g.147413336G= | CA1409289652 | ZIC1 | c.1147-18G= (n.1147-18G=) n.521+19394G= c.213-18G= | |
| 3 | g.147413336G>T | CA900395540 | ZIC1 | c.1147-18G>T (n.1147-18G>T) n.521+19394G>T c.213-18G>T | dbSNP |
| 3 | g.147413337C>A | CA2668109404 | ZIC1 | c.1147-17C>A (n.1147-17C>A) n.521+19395C>A c.213-17C>A | gnomAD v4 |
| 3 | g.147413337C= | CA1409289653 | ZIC1 | c.1147-17C= (n.1147-17C=) n.521+19395C= c.213-17C= | |
| 3 | g.147413337C>G | CA1409289654 | ZIC1 | c.1147-17C>G (n.1147-17C>G) n.521+19395C>G c.213-17C>G | dbSNP gnomAD v4 |
| 3 | g.147413337C>T | CA2657206 | ZIC1 | c.1147-17C>T (n.1147-17C>T) n.521+19395C>T c.213-17C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413338G>A | CA2657207 | ZIC1 | c.1147-16G>A (n.1147-16G>A) n.521+19396G>A c.213-16G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413338G= | CA1409289655 | ZIC1 | c.1147-16G= (n.1147-16G=) n.521+19396G= c.213-16G= | |
| 3 | g.147413338G>T | CA2668109450 | ZIC1 | c.1147-16G>T (n.1147-16G>T) n.521+19396G>T c.213-16G>T | gnomAD v4 |
| 3 | g.147413339A= | CA1409289657 | ZIC1 | c.1147-15A= (n.1147-15A=) n.521+19397A= c.213-15A= | |
| 3 | g.147413339A>C | CA546921936 | ZIC1 | c.1147-15A>C (n.1147-15A>C) n.521+19397A>C c.213-15A>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.147413339A>G | CA1409289656 | ZIC1 | c.1147-15A>G (n.1147-15A>G) n.521+19397A>G c.213-15A>G | dbSNP |
| 3 | g.147413340C>A | CA546921937 | ZIC1 | c.1147-14C>A (n.1147-14C>A) n.521+19398C>A c.213-14C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.147413340C= | CA1409289658 | ZIC1 | c.1147-14C= (n.1147-14C=) n.521+19398C= c.213-14C= | |
| 3 | g.147413341T>C | CA2657208 | ZIC1 | c.1147-13T>C (n.1147-13T>C) n.521+19399T>C c.213-13T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413341T= | CA1409289659 | ZIC1 | c.1147-13T= (n.1147-13T=) n.521+19399T= c.213-13T= | |
| 3 | g.147413342T>C | CA2657209 | ZIC1 | c.1147-12T>C (n.1147-12T>C) n.521+19400T>C c.213-12T>C | dbSNP ExAC gnomAD v2 |
| 3 | g.147413342T= | CA1409289660 | ZIC1 | c.1147-12T= (n.1147-12T=) n.521+19400T= c.213-12T= | |
| 3 | g.147413343T>C | CA1409289662 | ZIC1 | c.1147-11T>C (n.1147-11T>C) n.521+19401T>C c.213-11T>C | dbSNP |
| 3 | g.147413343T= | CA1409289661 | ZIC1 | c.1147-11T= (n.1147-11T=) n.521+19401T= c.213-11T= | |
| 3 | g.147413344A>T | CA645534889 | ZIC1 | c.1147-10A>T (n.1147-10A>T) n.521+19402A>T c.213-10A>T | COSMIC |
| 3 | g.147413347C= | CA1409289663 | ZIC1 | c.1147-7C= (n.1147-7C=) n.521+19405C= c.213-7C= | |
| 3 | g.147413347C>T | CA546921938 | ZIC1 | c.1147-7C>T (n.1147-7C>T) n.521+19405C>T c.213-7C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413349T>C | CA2668109455 | ZIC1 | c.1147-5T>C (n.1147-5T>C) n.521+19407T>C c.213-5T>C | gnomAD v4 |
| 3 | g.147413350G= | CA1409289664 | ZIC1 | c.1147-4G= (n.1147-4G=) n.521+19408G= c.213-4G= | |
| 3 | g.147413350G>T | CA2657210 | ZIC1 | c.1147-4G>T (n.1147-4G>T) n.521+19408G>T c.213-4G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413352A>C | CA354898350 | ZIC1 | c.1147-2A>C (n.1147-2A>C) n.521+19410A>C c.213-2A>C | COSMIC |
| 3 | g.147413352A>G | CA354898351 | ZIC1 | c.1147-2A>G (n.1147-2A>G) n.521+19410A>G c.213-2A>G | |
| 3 | g.147413352A>T | CA354898352 | ZIC1 | c.1147-2A>T (n.1147-2A>T) n.521+19410A>T c.213-2A>T | |
| 3 | g.147413353G>A | CA354898354 | ZIC1 | c.1147-1G>A (n.1147-1G>A) n.521+19411G>A c.213-1G>A | |
| 3 | g.147413353G>C | CA354898355 | ZIC1 | c.1147-1G>C (n.1147-1G>C) n.521+19411G>C c.213-1G>C | |
| 3 | g.147413353G>T | CA354898353 | ZIC1 | c.1147-1G>T (n.1147-1G>T) n.521+19411G>T c.213-1G>T | COSMIC |
| 3 | g.147413354G>A | CA354898356 | ZIC1 | c.1147G>A (p.Val383Ile) n.521+19412G>A c.213G>A | |
| 3 | g.147413354G>C | CA354898357 | ZIC1 | c.1147G>C (p.Val383Leu) n.521+19412G>C c.213G>C | |
| 3 | g.147413354G>T | CA354898358 | ZIC1 | c.1147G>T (p.Val383Phe) n.521+19412G>T c.213G>T | |
| 3 | g.147413355T>A | CA354898359 | ZIC1 | c.1148T>A (p.Val383Asp) n.521+19413T>A c.214T>A | |
| 3 | g.147413355T>C | CA354898360 | ZIC1 | c.1148T>C (p.Val383Ala) n.521+19413T>C c.214T>C | |
| 3 | g.147413355T>G | CA354898361 | ZIC1 | c.1148T>G (p.Val383Gly) n.521+19413T>G c.214T>G | |
| 3 | g.147413356C>A | CA436192573 | ZIC1 | c.1149C>A (p.Val383=) n.521+19414C>A c.215C>A | COSMIC |
| 3 | g.147413356C>G | CA436192574 | ZIC1 | c.1149C>G (p.Val383=) n.521+19414C>G c.215C>G | |
| 3 | g.147413356C>T | CA436192575 | ZIC1 | c.1149C>T (p.Val383=) n.521+19414C>T c.215C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.147413357C>A | CA354898364 | ZIC1 | c.1150C>A (p.His384Asn) n.521+19415C>A c.216C>A | |
| 3 | g.147413357C>G | CA354898362 | ZIC1 | c.1150C>G (p.His384Asp) n.521+19415C>G c.216C>G | |
| 3 | g.147413357C>T | CA354898363 | ZIC1 | c.1150C>T (p.His384Tyr) n.521+19415C>T c.216C>T | |
| 3 | g.147413358A>C | CA354898365 | ZIC1 | c.1151A>C (p.His384Pro) n.521+19416A>C c.217A>C | |
| 3 | g.147413358A>G | CA354898366 | ZIC1 | c.1151A>G (p.His384Arg) n.521+19416A>G c.217A>G | |
| 3 | g.147413358A>T | CA354898367 | ZIC1 | c.1151A>T (p.His384Leu) n.521+19416A>T c.217A>T | |
| 3 | g.147413359C>A | CA354898368 | ZIC1 | c.1152C>A (p.His384Gln) n.521+19417C>A c.218C>A | |
| 3 | g.147413359C>G | CA354898369 | ZIC1 | c.1152C>G (p.His384Gln) n.521+19417C>G c.218C>G | |
| 3 | g.147413359C>T | CA436192576 | ZIC1 | c.1152C>T (p.His384=) n.521+19417C>T c.218C>T | gnomAD v4 |
| 3 | g.147413360G>A | CA354898370 | ZIC1 | c.1153G>A (p.Glu385Lys) n.521+19418G>A c.219G>A | |
| 3 | g.147413360G>C | CA354898372 | ZIC1 | c.1153G>C (p.Glu385Gln) n.521+19418G>C c.219G>C | |
| 3 | g.147413360G= | CA1409289665 | ZIC1 | c.1153G= (p.Glu385=) n.521+19418G= c.219G= | |
| 3 | g.147413360G>T | CA354898371 | ZIC1 | c.1153G>T (p.Glu385Ter) n.521+19418G>T c.219G>T | ClinVar dbSNP |
| 3 | g.147413361A= | CA1409289666 | ZIC1 | c.1154A= (p.Glu385=) n.521+19419A= c.220A= | |
| 3 | g.147413361A>C | CA354898373 | ZIC1 | c.1154A>C (p.Glu385Ala) n.521+19419A>C c.220A>C | |
| 3 | g.147413361A>G | CA354898374 | ZIC1 | c.1154A>G (p.Glu385Gly) n.521+19419A>G c.220A>G | dbSNP |
| 3 | g.147413361A>T | CA354898375 | ZIC1 | c.1154A>T (p.Glu385Val) n.521+19419A>T c.220A>T | COSMIC |
| 3 | g.147413362A>C | CA354898376 | ZIC1 | c.1155A>C (p.Glu385Asp) n.521+19420A>C c.221A>C | |
| 3 | g.147413362A>G | CA436192577 | ZIC1 | c.1155A>G (p.Glu385=) n.521+19420A>G c.221A>G | |
| 3 | g.147413362A>T | CA354898377 | ZIC1 | c.1155A>T (p.Glu385Asp) n.521+19420A>T c.221A>T | |
| 3 | g.147413363T>A | CA354898378 | ZIC1 | c.1156T>A (p.Ser386Thr) n.521+19421T>A c.222T>A | |
| 3 | g.147413363T>C | CA354898379 | ZIC1 | c.1156T>C (p.Ser386Pro) n.521+19421T>C c.222T>C | dbSNP |
| 3 | g.147413363T>G | CA354898380 | ZIC1 | c.1156T>G (p.Ser386Ala) n.521+19421T>G c.222T>G | |
| 3 | g.147413363T= | CA1409289667 | ZIC1 | c.1156T= (p.Ser386=) n.521+19421T= c.222T= | |
| 3 | g.147413368_147413370del | CA2668109465 | ZIC1 | c.1161_1163del (p.Ser388del) n.521+19426_521+19428del c.227_229del | gnomAD v4 |
| 3 | g.147413364C>A | CA354898381 | ZIC1 | c.1157C>A (p.Ser386Tyr) n.521+19422C>A c.223C>A | |
| 3 | g.147413364C>G | CA354898382 | ZIC1 | c.1157C>G (p.Ser386Cys) n.521+19422C>G c.223C>G | |
| 3 | g.147413364C>T | CA354898383 | ZIC1 | c.1157C>T (p.Ser386Phe) n.521+19422C>T c.223C>T | |
| 3 | g.147413365C>A | CA436192579 | ZIC1 | c.1158C>A (p.Ser386=) n.521+19423C>A c.224C>A | |
| 3 | g.147413365C>G | CA436192580 | ZIC1 | c.1158C>G (p.Ser386=) n.521+19423C>G c.224C>G | |
| 3 | g.147413365C>T | CA436192578 | ZIC1 | c.1158C>T (p.Ser386=) n.521+19423C>T c.224C>T | |
| 3 | g.147413366T>A | CA354898386 | ZIC1 | c.1159T>A (p.Ser387Thr) n.521+19424T>A c.225T>A | |
| 3 | g.147413366T>C | CA354898385 | ZIC1 | c.1159T>C (p.Ser387Pro) n.521+19424T>C c.225T>C | dbSNP gnomAD v4 |
| 3 | g.147413366T>G | CA354898384 | ZIC1 | c.1159T>G (p.Ser387Ala) n.521+19424T>G c.225T>G | |
| 3 | g.147413366T= | CA1409289668 | ZIC1 | c.1159T= (p.Ser387=) n.521+19424T= c.225T= | |
| 3 | g.147413367C>A | CA354898387 | ZIC1 | c.1160C>A (p.Ser387Tyr) n.521+19425C>A c.226C>A | |
| 3 | g.147413367C>G | CA354898389 | ZIC1 | c.1160C>G (p.Ser387Cys) n.521+19425C>G c.226C>G | |
| 3 | g.147413367C>T | CA354898388 | ZIC1 | c.1160C>T (p.Ser387Phe) n.521+19425C>T c.226C>T | gnomAD v4 |
| 3 | g.147413368C>A | CA436192582 | ZIC1 | c.1161C>A (p.Ser387=) n.521+19426C>A c.227C>A | |
| 3 | g.147413368C= | CA1409289669 | ZIC1 | c.1161C= (p.Ser387=) n.521+19426C= c.227C= | |
| 3 | g.147413368C>G | CA436192581 | ZIC1 | c.1161C>G (p.Ser387=) n.521+19426C>G c.227C>G | |
| 3 | g.147413368C>T | CA84582389 | ZIC1 | c.1161C>T (p.Ser387=) n.521+19426C>T c.227C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.147413369T>A | CA354898390 | ZIC1 | c.1162T>A (p.Ser388Thr) n.521+19427T>A c.228T>A | |
| 3 | g.147413369T>C | CA354898391 | ZIC1 | c.1162T>C (p.Ser388Pro) n.521+19427T>C c.228T>C | |
| 3 | g.147413369T>G | CA354898392 | ZIC1 | c.1162T>G (p.Ser388Ala) n.521+19427T>G c.228T>G | |
| 3 | g.147413370C>A | CA16042223 | ZIC1 | c.1163C>A (p.Ser388Ter) n.521+19428C>A c.229C>A | ClinVar dbSNP |
| 3 | g.147413370C= | CA1409289670 | ZIC1 | c.1163C= (p.Ser388=) n.521+19428C= c.229C= | |
| 3 | g.147413370C>G | CA354898393 | ZIC1 | c.1163C>G (p.Ser388Trp) n.521+19428C>G c.229C>G | |
| 3 | g.147413370C>T | CA354898394 | ZIC1 | c.1163C>T (p.Ser388Leu) n.521+19428C>T c.229C>T | gnomAD v4 COSMIC |
| 3 | g.147413371G>A | CA84582396 | ZIC1 | c.1164G>A (p.Ser388=) n.521+19429G>A c.230G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.147413371G>C | CA436192583 | ZIC1 | c.1164G>C (p.Ser388=) n.521+19429G>C c.230G>C | |
| 3 | g.147413371G= | CA1409289671 | ZIC1 | c.1164G= (p.Ser388=) n.521+19429G= c.230G= | |
| 3 | g.147413371G>T | CA2657211 | ZIC1 | c.1164G>T (p.Ser388=) n.521+19429G>T c.230G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.147413372C>A | CA354898395 | ZIC1 | c.1165C>A (p.Gln389Lys) n.521+19430C>A c.231C>A | |
| 3 | g.147413372C= | CA1409289672 | ZIC1 | c.1165C= (p.Gln389=) n.521+19430C= c.231C= | |
| 3 | g.147413372C>G | CA354898396 | ZIC1 | c.1165C>G (p.Gln389Glu) n.521+19430C>G c.231C>G | |
| 3 | g.147413372C>T | CA16042224 | ZIC1 | c.1165C>T (p.Gln389Ter) n.521+19430C>T c.231C>T | ClinVar dbSNP |
| 3 | g.147413373A>C | CA354898397 | ZIC1 | c.1166A>C (p.Gln389Pro) n.521+19431A>C c.232A>C | |
| 3 | g.147413373A>G | CA354898398 | ZIC1 | c.1166A>G (p.Gln389Arg) n.521+19431A>G c.232A>G | |
| 3 | g.147413373A>T | CA354898399 | ZIC1 | c.1166A>T (p.Gln389Leu) n.521+19431A>T c.232A>T | |
| 3 | g.147413374G>A | CA436192584 | ZIC1 | c.1167G>A (p.Gln389=) n.521+19432G>A c.233G>A | |
| 3 | g.147413374G>C | CA354898400 | ZIC1 | c.1167G>C (p.Gln389His) n.521+19432G>C c.233G>C | |
| 3 | g.147413374G>T | CA354898401 | ZIC1 | c.1167G>T (p.Gln389His) n.521+19432G>T c.233G>T | COSMIC |
| 3 | g.147413375G>A | CA354898402 | ZIC1 | c.1168G>A (p.Gly390Ser) n.521+19433G>A c.234G>A | |
| 3 | g.147413375G>C | CA354898403 | ZIC1 | c.1168G>C (p.Gly390Arg) n.521+19433G>C c.234G>C | |
| 3 | g.147413375G>T | CA354898404 | ZIC1 | c.1168G>T (p.Gly390Cys) n.521+19433G>T c.234G>T | |
| 3 | g.147413376G>A | CA354898405 | ZIC1 | c.1169G>A (p.Gly390Asp) n.521+19434G>A c.235G>A | |
| 3 | g.147413376G>C | CA354898406 | ZIC1 | c.1169G>C (p.Gly390Ala) n.521+19434G>C c.235G>C | |
| 3 | g.147413376G>T | CA354898407 | ZIC1 | c.1169G>T (p.Gly390Val) n.521+19434G>T c.235G>T | |
| 3 | g.147413377C>A | CA2657212 | ZIC1 | c.1170C>A (p.Gly390=) n.521+19435C>A c.236C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413377C= | CA1409289673 | ZIC1 | c.1170C= (p.Gly390=) n.521+19435C= c.236C= | |
| 3 | g.147413377C>G | CA436192585 | ZIC1 | c.1170C>G (p.Gly390=) n.521+19435C>G c.236C>G | gnomAD v4 |
| 3 | g.147413377C>T | CA84582456 | ZIC1 | c.1170C>T (p.Gly390=) n.521+19435C>T c.236C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.147413378T>A | CA354898408 | ZIC1 | c.1171T>A (p.Ser391Thr) n.521+19436T>A c.237T>A | |
| 3 | g.147413378T>C | CA354898409 | ZIC1 | c.1171T>C (p.Ser391Pro) n.521+19436T>C c.237T>C | |
| 3 | g.147413378T>G | CA354898410 | ZIC1 | c.1171T>G (p.Ser391Ala) n.521+19436T>G c.237T>G | |
| 3 | g.147413379C>A | CA354898413 | ZIC1 | c.1172C>A (p.Ser391Ter) n.521+19437C>A c.238C>A | |
| 3 | g.147413379C>G | CA354898412 | ZIC1 | c.1172C>G (p.Ser391Trp) n.521+19437C>G c.238C>G | gnomAD v4 |
| 3 | g.147413379C>T | CA354898411 | ZIC1 | c.1172C>T (p.Ser391Leu) n.521+19437C>T c.238C>T | |
| 3 | g.147413380G>A | CA84582463 | ZIC1 | c.1173G>A (p.Ser391=) n.521+19438G>A c.239G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.147413380G>C | CA436193064 | ZIC1 | c.1173G>C (p.Ser391=) n.521+19438G>C c.239G>C | |
| 3 | g.147413380G= | CA1409289674 | ZIC1 | c.1173G= (p.Ser391=) n.521+19438G= c.239G= | |
| 3 | g.147413380G>T | CA436193066 | ZIC1 | c.1173G>T (p.Ser391=) n.521+19438G>T c.239G>T | |
| 3 | g.147413381C>A | CA354898414 | ZIC1 | c.1174C>A (p.Gln392Lys) n.521+19439C>A c.240C>A | gnomAD v4 |
| 3 | g.147413381C>G | CA354898415 | ZIC1 | c.1174C>G (p.Gln392Glu) n.521+19439C>G c.240C>G | |
| 3 | g.147413381C>T | CA354898416 | ZIC1 | c.1174C>T (p.Gln392Ter) n.521+19439C>T c.240C>T | ClinVar |
| 3 | g.147413382A>C | CA354898417 | ZIC1 | c.1175A>C (p.Gln392Pro) n.521+19440A>C c.241A>C | |
| 3 | g.147413382A>G | CA354898418 | ZIC1 | c.1175A>G (p.Gln392Arg) n.521+19440A>G c.241A>G | |
| 3 | g.147413382A>T | CA354898419 | ZIC1 | c.1175A>T (p.Gln392Leu) n.521+19440A>T c.241A>T | |
| 3 | g.147413383G>A | CA2657213 | ZIC1 | c.1176G>A (p.Gln392=) n.521+19441G>A c.242G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413383G>C | CA354898420 | ZIC1 | c.1176G>C (p.Gln392His) n.521+19441G>C c.242G>C | |
| 3 | g.147413383G= | CA1409289675 | ZIC1 | c.1176G= (p.Gln392=) n.521+19441G= c.242G= | |
| 3 | g.147413383G>T | CA354898421 | ZIC1 | c.1176G>T (p.Gln392His) n.521+19441G>T c.242G>T | |
| 3 | g.147413384C>A | CA354898422 | ZIC1 | c.1177C>A (p.Pro393Thr) n.521+19442C>A c.243C>A | |
| 3 | g.147413384C= | CA1409289676 | ZIC1 | c.1177C= (p.Pro393=) n.521+19442C= c.243C= | |
| 3 | g.147413384C>G | CA354898423 | ZIC1 | c.1177C>G (p.Pro393Ala) n.521+19442C>G c.243C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413384C>T | CA354898424 | ZIC1 | c.1177C>T (p.Pro393Ser) n.521+19442C>T c.243C>T | |
| 3 | g.147413385C>A | CA354898426 | ZIC1 | c.1178C>A (p.Pro393His) n.521+19443C>A c.244C>A | dbSNP |
| 3 | g.147413385C= | CA1409289677 | ZIC1 | c.1178C= (p.Pro393=) n.521+19443C= c.244C= | |
| 3 | g.147413385C>G | CA354898427 | ZIC1 | c.1178C>G (p.Pro393Arg) n.521+19443C>G c.244C>G | |
| 3 | g.147413385C>T | CA354898425 | ZIC1 | c.1178C>T (p.Pro393Leu) n.521+19443C>T c.244C>T | |
| 3 | g.147413386T>A | CA436193097 | ZIC1 | c.1179T>A (p.Pro393=) n.521+19444T>A c.245T>A | |
| 3 | g.147413386T>C | CA436193095 | ZIC1 | c.1179T>C (p.Pro393=) n.521+19444T>C c.245T>C | |
| 3 | g.147413386T>G | CA436193093 | ZIC1 | c.1179T>G (p.Pro393=) n.521+19444T>G c.245T>G | |
| 3 | g.147413387T>A | CA354898428 | ZIC1 | c.1180T>A (p.Ser394Thr) n.521+19445T>A c.246T>A | |
| 3 | g.147413387T>C | CA354898429 | ZIC1 | c.1180T>C (p.Ser394Pro) n.521+19445T>C c.246T>C | |
| 3 | g.147413387T>G | CA354898430 | ZIC1 | c.1180T>G (p.Ser394Ala) n.521+19445T>G c.246T>G | |
| 3 | g.147413388C>A | CA354898431 | ZIC1 | c.1181C>A (p.Ser394Ter) n.521+19446C>A c.247C>A | |
| 3 | g.147413388C>G | CA354898432 | ZIC1 | c.1181C>G (p.Ser394Trp) n.521+19446C>G c.247C>G | |
| 3 | g.147413388C>T | CA354898433 | ZIC1 | c.1181C>T (p.Ser394Leu) n.521+19446C>T c.247C>T | |
| 3 | g.147413388_147413399delinsCGCCGGCCGCCA | CA1409289678 | ZIC1 | c.1181_1192delinsCGCCGGCCGCCA (p.Ser394=) n.521+19446_521+19457delinsCGCCGGCCGCCA c.247_258delinsCGCCGGCCGCCA | |
| 3 | g.147413389G>A | CA436193105 | ZIC1 | c.1182G>A (p.Ser394=) n.521+19447G>A c.248G>A | gnomAD v4 |
| 3 | g.147413389G>C | CA436193106 | ZIC1 | c.1182G>C (p.Ser394=) n.521+19447G>C c.248G>C | |
| 3 | g.147413389G>T | CA436193107 | ZIC1 | c.1182G>T (p.Ser394=) n.521+19447G>T c.248G>T | gnomAD v4 |
| 3 | g.147413391_147413401del | CA915941608 | ZIC1 | c.1184_1194del (p.Pro395LeufsTer?) n.521+19449_521+19459del c.250_260del | ClinVar dbSNP |
| 3 | g.147413390C>A | CA354898434 | ZIC1 | c.1183C>A (p.Pro395Thr) n.521+19448C>A c.249C>A | |
| 3 | g.147413390C= | CA1409289679 | ZIC1 | c.1183C= (p.Pro395=) n.521+19448C= c.249C= | |
| 3 | g.147413390C>G | CA354898436 | ZIC1 | c.1183C>G (p.Pro395Ala) n.521+19448C>G c.249C>G | dbSNP |
| 3 | g.147413390C>T | CA354898435 | ZIC1 | c.1183C>T (p.Pro395Ser) n.521+19448C>T c.249C>T | |
| 3 | g.147413391C>A | CA354898437 | ZIC1 | c.1184C>A (p.Pro395Gln) n.521+19449C>A c.250C>A | |
| 3 | g.147413391C>G | CA354898438 | ZIC1 | c.1184C>G (p.Pro395Arg) n.521+19449C>G c.250C>G | |
| 3 | g.147413391C>T | CA354898439 | ZIC1 | c.1184C>T (p.Pro395Leu) n.521+19449C>T c.250C>T | |
| 3 | g.147413392G>A | CA2657214 | ZIC1 | c.1185G>A (p.Pro395=) n.521+19450G>A c.251G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.147413392G>C | CA436193115 | ZIC1 | c.1185G>C (p.Pro395=) n.521+19450G>C c.251G>C | |
| 3 | g.147413392G= | CA1409289680 | ZIC1 | c.1185G= (p.Pro395=) n.521+19450G= c.251G= | |
| 3 | g.147413392G>T | CA436193122 | ZIC1 | c.1185G>T (p.Pro395=) n.521+19450G>T c.251G>T | |
| 3 | g.147413393G>A | CA354898442 | ZIC1 | c.1186G>A (p.Ala396Thr) n.521+19451G>A c.252G>A | gnomAD v4 |
| 3 | g.147413393G>C | CA354898441 | ZIC1 | c.1186G>C (p.Ala396Pro) n.521+19451G>C c.252G>C | |
| 3 | g.147413393G>T | CA354898440 | ZIC1 | c.1186G>T (p.Ala396Ser) n.521+19451G>T c.252G>T | |
| 3 | g.147413394C>A | CA354898443 | ZIC1 | c.1187C>A (p.Ala396Asp) n.521+19452C>A c.253C>A | gnomAD v4 |
| 3 | g.147413394C= | CA1409289681 | ZIC1 | c.1187C= (p.Ala396=) n.521+19452C= c.253C= | |
| 3 | g.147413394C>G | CA2657215 | ZIC1 | c.1187C>G (p.Ala396Gly) n.521+19452C>G c.253C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413394C>T | CA354898444 | ZIC1 | c.1187C>T (p.Ala396Val) n.521+19452C>T c.253C>T | |
| 3 | g.147413395C>A | CA436193138 | ZIC1 | c.1188C>A (p.Ala396=) n.521+19453C>A c.254C>A | |
| 3 | g.147413395C>G | CA436193140 | ZIC1 | c.1188C>G (p.Ala396=) n.521+19453C>G c.254C>G | |
| 3 | g.147413395C>T | CA436193142 | ZIC1 | c.1188C>T (p.Ala396=) n.521+19453C>T c.254C>T | |
| 3 | g.147413396G>A | CA84582525 | ZIC1 | c.1189G>A (p.Ala397Thr) n.521+19454G>A c.255G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413396G>C | CA354898446 | ZIC1 | c.1189G>C (p.Ala397Pro) n.521+19454G>C c.255G>C | |
| 3 | g.147413396G= | CA1409289682 | ZIC1 | c.1189G= (p.Ala397=) n.521+19454G= c.255G= | |
| 3 | g.147413396G>T | CA354898445 | ZIC1 | c.1189G>T (p.Ala397Ser) n.521+19454G>T c.255G>T | |
| 3 | g.147413397C>A | CA354898447 | ZIC1 | c.1190C>A (p.Ala397Asp) n.521+19455C>A c.256C>A | |
| 3 | g.147413397C= | CA1409289683 | ZIC1 | c.1190C= (p.Ala397=) n.521+19455C= c.256C= | |
| 3 | g.147413397C>G | CA354898449 | ZIC1 | c.1190C>G (p.Ala397Gly) n.521+19455C>G c.256C>G | |
| 3 | g.147413397C>T | CA354898448 | ZIC1 | c.1190C>T (p.Ala397Val) n.521+19455C>T c.256C>T | dbSNP |
| 3 | g.147413398C>A | CA436193156 | ZIC1 | c.1191C>A (p.Ala397=) n.521+19456C>A c.257C>A | |
| 3 | g.147413398C>G | CA436193158 | ZIC1 | c.1191C>G (p.Ala397=) n.521+19456C>G c.257C>G | |
| 3 | g.147413398C>T | CA436193160 | ZIC1 | c.1191C>T (p.Ala397=) n.521+19456C>T c.257C>T | |
| 3 | g.147413399A>C | CA354898450 | ZIC1 | c.1192A>C (p.Ser398Arg) n.521+19457A>C c.258A>C | |
| 3 | g.147413399A>G | CA354898452 | ZIC1 | c.1192A>G (p.Ser398Gly) n.521+19457A>G c.258A>G | |
| 3 | g.147413399A>T | CA354898451 | ZIC1 | c.1192A>T (p.Ser398Cys) n.521+19457A>T c.258A>T | |
| 3 | g.147413400G>A | CA354898453 | ZIC1 | c.1193G>A (p.Ser398Asn) n.521+19458G>A c.259G>A | |
| 3 | g.147413400G>C | CA354898454 | ZIC1 | c.1193G>C (p.Ser398Thr) n.521+19458G>C c.259G>C | dbSNP gnomAD v4 |
| 3 | g.147413400G= | CA1409289684 | ZIC1 | c.1193G= (p.Ser398=) n.521+19458G= c.259G= | |
| 3 | g.147413400G>T | CA354898455 | ZIC1 | c.1193G>T (p.Ser398Ile) n.521+19458G>T c.259G>T | |
| 3 | g.147413401C>A | CA354898456 | ZIC1 | c.1194C>A (p.Ser398Arg) n.521+19459C>A c.260C>A | |
| 3 | g.147413401C= | CA1409289685 | ZIC1 | c.1194C= (p.Ser398=) n.521+19459C= c.260C= | |
| 3 | g.147413401C>G | CA354898457 | ZIC1 | c.1194C>G (p.Ser398Arg) n.521+19459C>G c.260C>G | |
| 3 | g.147413401C>T | CA436193175 | ZIC1 | c.1194C>T (p.Ser398=) n.521+19459C>T c.260C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.147413402T>A | CA354898458 | ZIC1 | c.1195T>A (p.Ser399Thr) n.521+19460T>A c.261T>A | |
| 3 | g.147413402T>C | CA354898459 | ZIC1 | c.1195T>C (p.Ser399Pro) n.521+19460T>C c.261T>C | |
| 3 | g.147413402T>G | CA354898460 | ZIC1 | c.1195T>G (p.Ser399Ala) n.521+19460T>G c.261T>G | |
| 3 | g.147413403C>A | CA354898461 | ZIC1 | c.1196C>A (p.Ser399Tyr) n.521+19461C>A c.262C>A | |
| 3 | g.147413403C= | CA1409289686 | ZIC1 | c.1196C= (p.Ser399=) n.521+19461C= c.262C= | |
| 3 | g.147413403C>G | CA354898462 | ZIC1 | c.1196C>G (p.Ser399Cys) n.521+19461C>G c.262C>G | COSMIC |
| 3 | g.147413403C>T | CA354898463 | ZIC1 | c.1196C>T (p.Ser399Phe) n.521+19461C>T c.262C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.147413404T>A | CA436193193 | ZIC1 | c.1197T>A (p.Ser399=) n.521+19462T>A c.263T>A | |
| 3 | g.147413404T>C | CA84582532 | ZIC1 | c.1197T>C (p.Ser399=) n.521+19462T>C c.263T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413404T>G | CA436193189 | ZIC1 | c.1197T>G (p.Ser399=) n.521+19462T>G c.263T>G | |
| 3 | g.147413404T= | CA1409289687 | ZIC1 | c.1197T= (p.Ser399=) n.521+19462T= c.263T= | |
| 3 | g.147413405G>A | CA354898465 | ZIC1 | c.1198G>A (p.Gly400Ser) n.521+19463G>A c.264G>A | COSMIC |
| 3 | g.147413405G>C | CA16042226 | ZIC1 | c.1198G>C (p.Gly400Arg) n.521+19463G>C c.264G>C | ClinVar dbSNP |
| 3 | g.147413405G= | CA1409289688 | ZIC1 | c.1198G= (p.Gly400=) n.521+19463G= c.264G= | |
| 3 | g.147413405G>T | CA354898464 | ZIC1 | c.1198G>T (p.Gly400Cys) n.521+19463G>T c.264G>T | |
| 3 | g.147413406G>A | CA354898466 | ZIC1 | c.1199G>A (p.Gly400Asp) n.521+19464G>A c.265G>A | ClinVar dbSNP |
| 3 | g.147413406G>C | CA354898467 | ZIC1 | c.1199G>C (p.Gly400Ala) n.521+19464G>C c.265G>C | |
| 3 | g.147413406G>T | CA354898468 | ZIC1 | c.1199G>T (p.Gly400Val) n.521+19464G>T c.265G>T | ClinVar |
| 3 | g.147413407C>A | CA436193208 | ZIC1 | c.1200C>A (p.Gly400=) n.521+19465C>A c.266C>A | |
| 3 | g.147413407C>G | CA436193209 | ZIC1 | c.1200C>G (p.Gly400=) n.521+19465C>G c.266C>G | |
| 3 | g.147413407C>T | CA436193210 | ZIC1 | c.1200C>T (p.Gly400=) n.521+19465C>T c.266C>T | gnomAD v4 |
| 3 | g.147413408T>A | CA354898469 | ZIC1 | c.1201T>A (p.Tyr401Asn) n.521+19466T>A c.267T>A | |
| 3 | g.147413408T>C | CA354898470 | ZIC1 | c.1201T>C (p.Tyr401His) n.521+19466T>C c.267T>C | |
| 3 | g.147413408T>G | CA354898471 | ZIC1 | c.1201T>G (p.Tyr401Asp) n.521+19466T>G c.267T>G | |
| 3 | g.147413409A>C | CA354898472 | ZIC1 | c.1202A>C (p.Tyr401Ser) n.521+19467A>C c.268A>C | |
| 3 | g.147413409A>G | CA354898473 | ZIC1 | c.1202A>G (p.Tyr401Cys) n.521+19467A>G c.268A>G | |
| 3 | g.147413409A>T | CA354898474 | ZIC1 | c.1202A>T (p.Tyr401Phe) n.521+19467A>T c.268A>T | |
| 3 | g.147413410C>A | CA354898475 | ZIC1 | c.1203C>A (p.Tyr401Ter) n.521+19468C>A c.269C>A | |
| 3 | g.147413410C>G | CA354898476 | ZIC1 | c.1203C>G (p.Tyr401Ter) n.521+19468C>G c.269C>G | |
| 3 | g.147413410C>T | CA436193225 | ZIC1 | c.1203C>T (p.Tyr401=) n.521+19468C>T c.269C>T | gnomAD v4 |
| 3 | g.147413411G>A | CA354898478 | ZIC1 | c.1204G>A (p.Glu402Lys) n.521+19469G>A c.270G>A | COSMIC |
| 3 | g.147413411G>C | CA354898477 | ZIC1 | c.1204G>C (p.Glu402Gln) n.521+19469G>C c.270G>C | |
| 3 | g.147413411G= | CA1409289689 | ZIC1 | c.1204G= (p.Glu402=) n.521+19469G= c.270G= | |
| 3 | g.147413411G>T | CA16042225 | ZIC1 | c.1204G>T (p.Glu402Ter) n.521+19469G>T c.270G>T | ClinVar dbSNP |
| 3 | g.147413412A>C | CA354898479 | ZIC1 | c.1205A>C (p.Glu402Ala) n.521+19470A>C c.271A>C | |
| 3 | g.147413412A>G | CA354898480 | ZIC1 | c.1205A>G (p.Glu402Gly) n.521+19470A>G c.271A>G | |
| 3 | g.147413412A>T | CA354898481 | ZIC1 | c.1205A>T (p.Glu402Val) n.521+19470A>T c.271A>T | |
| 3 | g.147413413A= | CA1409289690 | ZIC1 | c.1206A= (p.Glu402=) n.521+19471A= c.272A= | |
| 3 | g.147413413A>C | CA354898482 | ZIC1 | c.1206A>C (p.Glu402Asp) n.521+19471A>C c.272A>C | gnomAD v4 |
| 3 | g.147413413A>G | CA436193242 | ZIC1 | c.1206A>G (p.Glu402=) n.521+19471A>G c.272A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.147413413A>T | CA354898483 | ZIC1 | c.1206A>T (p.Glu402Asp) n.521+19471A>T c.272A>T | |
| 3 | g.147413414T>A | CA354898484 | ZIC1 | c.1207T>A (p.Ser403Thr) n.521+19472T>A c.273T>A | |
| 3 | g.147413414T>C | CA354898485 | ZIC1 | c.1207T>C (p.Ser403Pro) n.521+19472T>C c.273T>C | |
| 3 | g.147413414T>G | CA354898486 | ZIC1 | c.1207T>G (p.Ser403Ala) n.521+19472T>G c.273T>G | |
| 3 | g.147413415C>A | CA354898487 | ZIC1 | c.1208C>A (p.Ser403Tyr) n.521+19473C>A c.274C>A | |
| 3 | g.147413415C>G | CA354898488 | ZIC1 | c.1208C>G (p.Ser403Cys) n.521+19473C>G c.274C>G | |
| 3 | g.147413415C>T | CA354898489 | ZIC1 | c.1208C>T (p.Ser403Phe) n.521+19473C>T c.274C>T | ClinVar |
| 3 | g.147413416C>A | CA436193259 | ZIC1 | c.1209C>A (p.Ser403=) n.521+19474C>A c.275C>A | dbSNP gnomAD v4 |
| 3 | g.147413416C= | CA1409289691 | ZIC1 | c.1209C= (p.Ser403=) n.521+19474C= c.275C= | |
| 3 | g.147413416C>G | CA436193262 | ZIC1 | c.1209C>G (p.Ser403=) n.521+19474C>G c.275C>G | |
| 3 | g.147413416C>T | CA436193264 | ZIC1 | c.1209C>T (p.Ser403=) n.521+19474C>T c.275C>T | |
| 3 | g.147413417T>A | CA354898492 | ZIC1 | c.1210T>A (p.Ser404Thr) n.521+19475T>A c.276T>A | |
| 3 | g.147413417T>C | CA354898491 | ZIC1 | c.1210T>C (p.Ser404Pro) n.521+19475T>C c.276T>C | |
| 3 | g.147413417T>G | CA354898490 | ZIC1 | c.1210T>G (p.Ser404Ala) n.521+19475T>G c.276T>G | |
| 3 | g.147413418C>A | CA354898493 | ZIC1 | c.1211C>A (p.Ser404Tyr) n.521+19476C>A c.277C>A | |
| 3 | g.147413418C>G | CA354898494 | ZIC1 | c.1211C>G (p.Ser404Cys) n.521+19476C>G c.277C>G | COSMIC |
| 3 | g.147413418C>T | CA354898495 | ZIC1 | c.1211C>T (p.Ser404Phe) n.521+19476C>T c.277C>T | |
| 3 | g.147413419C>A | CA436193284 | ZIC1 | c.1212C>A (p.Ser404=) n.521+19477C>A c.278C>A | |
| 3 | g.147413419C>G | CA436193282 | ZIC1 | c.1212C>G (p.Ser404=) n.521+19477C>G c.278C>G | |
| 3 | g.147413419C>T | CA436193281 | ZIC1 | c.1212C>T (p.Ser404=) n.521+19477C>T c.278C>T | |
| 3 | g.147413420A>C | CA354898496 | ZIC1 | c.1213A>C (p.Thr405Pro) n.521+19478A>C c.279A>C | |
| 3 | g.147413420A>G | CA354898497 | ZIC1 | c.1213A>G (p.Thr405Ala) n.521+19478A>G c.279A>G | |
| 3 | g.147413420A>T | CA354898498 | ZIC1 | c.1213A>T (p.Thr405Ser) n.521+19478A>T c.279A>T | |
| 3 | g.147413421C>A | CA354898499 | ZIC1 | c.1214C>A (p.Thr405Lys) n.521+19479C>A c.280C>A | |
| 3 | g.147413421C= | CA1409289692 | ZIC1 | c.1214C= (p.Thr405=) n.521+19479C= c.280C= | |
| 3 | g.147413421C>G | CA354898500 | ZIC1 | c.1214C>G (p.Thr405Arg) n.521+19479C>G c.280C>G | |
| 3 | g.147413421C>T | CA354898501 | ZIC1 | c.1214C>T (p.Thr405Met) n.521+19479C>T c.280C>T | |
| 3 | g.147413421_147413422insCACCATCGT | CA915941609 | ZIC1 | c.1214_1215insCACCATCGT (p.Thr405_Pro406insThrIleVal) n.521+19479_521+19480insCACCATCGT c.280_281insCACCATCGT | ClinVar dbSNP |
| 3 | g.147413421_147413422insCACCATCGTG | CA2695202085 | ZIC1 | c.1214_1215insCACCATCGTG (p.Pro406ThrfsTer?) n.521+19479_521+19480insCACCATCGTG c.280_281insCACCATCGTG | |
| 3 | g.147413422G>A | CA436193292 | ZIC1 | c.1215G>A (p.Thr405=) n.521+19480G>A c.281G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.147413422G>C | CA436193295 | ZIC1 | c.1215G>C (p.Thr405=) n.521+19480G>C c.281G>C | |
| 3 | g.147413422G= | CA1409289693 | ZIC1 | c.1215G= (p.Thr405=) n.521+19480G= c.281G= | |
| 3 | g.147413422G>T | CA436193297 | ZIC1 | c.1215G>T (p.Thr405=) n.521+19480G>T c.281G>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.147413423C>A | CA354898502 | ZIC1 | c.1216C>A (p.Pro406Thr) n.521+19481C>A c.282C>A | COSMIC |
| 3 | g.147413423C= | CA1409289694 | ZIC1 | c.1216C= (p.Pro406=) n.521+19481C= c.282C= | |
| 3 | g.147413423C>G | CA354898503 | ZIC1 | c.1216C>G (p.Pro406Ala) n.521+19481C>G c.282C>G | |
| 3 | g.147413423C>T | CA354898504 | ZIC1 | c.1216C>T (p.Pro406Ser) n.521+19481C>T c.282C>T | dbSNP gnomAD v2 |
| 3 | g.147413424C>A | CA354898507 | ZIC1 | c.1217C>A (p.Pro406His) n.521+19482C>A c.283C>A | |
| 3 | g.147413424C>G | CA354898506 | ZIC1 | c.1217C>G (p.Pro406Arg) n.521+19482C>G c.283C>G | |
| 3 | g.147413424C>T | CA354898505 | ZIC1 | c.1217C>T (p.Pro406Leu) n.521+19482C>T c.283C>T | ClinVar COSMIC |
| 3 | g.147413425T>A | CA436193304 | ZIC1 | c.1218T>A (p.Pro406=) n.521+19483T>A c.284T>A | |
| 3 | g.147413425T>C | CA436193306 | ZIC1 | c.1218T>C (p.Pro406=) n.521+19483T>C c.284T>C | |
| 3 | g.147413425T>G | CA436193309 | ZIC1 | c.1218T>G (p.Pro406=) n.521+19483T>G c.284T>G | |
| 3 | g.147413426C>A | CA354898508 | ZIC1 | c.1219C>A (p.Pro407Thr) n.521+19484C>A c.285C>A | |
| 3 | g.147413426C>G | CA354898509 | ZIC1 | c.1219C>G (p.Pro407Ala) n.521+19484C>G c.285C>G | |
| 3 | g.147413426C>T | CA354898510 | ZIC1 | c.1219C>T (p.Pro407Ser) n.521+19484C>T c.285C>T | gnomAD v4 |
| 3 | g.147413427C>A | CA354898511 | ZIC1 | c.1220C>A (p.Pro407His) n.521+19485C>A c.286C>A | |
| 3 | g.147413427C>G | CA354898512 | ZIC1 | c.1220C>G (p.Pro407Arg) n.521+19485C>G c.286C>G | |
| 3 | g.147413427C>T | CA354898513 | ZIC1 | c.1220C>T (p.Pro407Leu) n.521+19485C>T c.286C>T | |
| 3 | g.147413428C>A | CA436193318 | ZIC1 | c.1221C>A (p.Pro407=) n.521+19486C>A c.287C>A | |
| 3 | g.147413428C>G | CA436193319 | ZIC1 | c.1221C>G (p.Pro407=) n.521+19486C>G c.287C>G | |
| 3 | g.147413428C>T | CA436193320 | ZIC1 | c.1221C>T (p.Pro407=) n.521+19486C>T c.287C>T | |
| 3 | g.147413429A>C | CA354898516 | ZIC1 | c.1222A>C (p.Thr408Pro) n.521+19487A>C c.288A>C | |
| 3 | g.147413429A>G | CA354898515 | ZIC1 | c.1222A>G (p.Thr408Ala) n.521+19487A>G c.288A>G | |
| 3 | g.147413429A>T | CA354898514 | ZIC1 | c.1222A>T (p.Thr408Ser) n.521+19487A>T c.288A>T | |
| 3 | g.147413430C>A | CA354898517 | ZIC1 | c.1223C>A (p.Thr408Asn) n.521+19488C>A c.289C>A | gnomAD v4 |
| 3 | g.147413430C>G | CA354898518 | ZIC1 | c.1223C>G (p.Thr408Ser) n.521+19488C>G c.289C>G | |
| 3 | g.147413430C>T | CA354898519 | ZIC1 | c.1223C>T (p.Thr408Ile) n.521+19488C>T c.289C>T |