SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.92719388_92719389del | CA1126797438 | BICD2 | c.1256_1257del (p.His419ArgfsTer14) c.1337_1338del (p.His446ArgfsTer14) | gnomAD v3 gnomAD v4 |
| 9 | g.92719389T>A | CA374039300 | BICD2 | c.1256A>T (p.His419Leu) c.1337A>T (p.His446Leu) | |
| 9 | g.92719389T>C | CA374039302 | BICD2 | c.1256A>G (p.His419Arg) c.1337A>G (p.His446Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719389T>G | CA374039305 | BICD2 | c.1256A>C (p.His419Pro) c.1337A>C (p.His446Pro) | |
| 9 | g.92719389T= | CA1864362266 | BICD2 | c.1256A= (p.His419=) c.1337A= (p.His446=) | |
| 9 | g.92719390G>A | CA374039307 | BICD2 | c.1255C>T (p.His419Tyr) c.1336C>T (p.His446Tyr) | gnomAD v4 |
| 9 | g.92719390G>C | CA374039312 | BICD2 | c.1255C>G (p.His419Asp) c.1336C>G (p.His446Asp) | dbSNP |
| 9 | g.92719390G= | CA1864362269 | BICD2 | c.1255C= (p.His419=) c.1336C= (p.His446=) | |
| 9 | g.92719390G>T | CA374039313 | BICD2 | c.1255C>A (p.His419Asn) c.1336C>A (p.His446Asn) | |
| 9 | g.92719391G>A | CA5126597 | BICD2 | c.1254C>T (p.Ser418=) c.1335C>T (p.Ser445=) | dbSNP ExAC gnomAD v2 |
| 9 | g.92719391G>C | CA374039316 | BICD2 | c.1254C>G (p.Ser418Arg) c.1335C>G (p.Ser445Arg) | |
| 9 | g.92719391G= | CA1864362273 | BICD2 | c.1254C= (p.Ser418=) c.1335C= (p.Ser445=) | |
| 9 | g.92719391G>T | CA374039315 | BICD2 | c.1254C>A (p.Ser418Arg) c.1335C>A (p.Ser445Arg) | |
| 9 | g.92719392C>A | CA374039326 | BICD2 | c.1253G>T (p.Ser418Ile) c.1334G>T (p.Ser445Ile) | |
| 9 | g.92719392C>G | CA374039328 | BICD2 | c.1253G>C (p.Ser418Thr) c.1334G>C (p.Ser445Thr) | |
| 9 | g.92719392C>T | CA374039331 | BICD2 | c.1253G>A (p.Ser418Asn) c.1334G>A (p.Ser445Asn) | gnomAD v4 |
| 9 | g.92719393T>A | CA374039332 | BICD2 | c.1252A>T (p.Ser418Cys) c.1333A>T (p.Ser445Cys) | |
| 9 | g.92719393T>C | CA374039333 | BICD2 | c.1252A>G (p.Ser418Gly) c.1333A>G (p.Ser445Gly) | dbSNP |
| 9 | g.92719393T>G | CA374039334 | BICD2 | c.1252A>C (p.Ser418Arg) c.1333A>C (p.Ser445Arg) | |
| 9 | g.92719393T= | CA1864362275 | BICD2 | c.1252A= (p.Ser418=) c.1333A= (p.Ser445=) | |
| 9 | g.92719394G>A | CA196340987 | BICD2 | c.1251C>T (p.Asp417=) c.1332C>T (p.Asp444=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719394G>C | CA374039335 | BICD2 | c.1251C>G (p.Asp417Glu) c.1332C>G (p.Asp444Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719394G= | CA1864362278 | BICD2 | c.1251C= (p.Asp417=) c.1332C= (p.Asp444=) | |
| 9 | g.92719394G>T | CA374039341 | BICD2 | c.1251C>A (p.Asp417Glu) c.1332C>A (p.Asp444Glu) | |
| 9 | g.92719395T>A | CA374039348 | BICD2 | c.1250A>T (p.Asp417Val) c.1331A>T (p.Asp444Val) | |
| 9 | g.92719395T>C | CA5126598 | BICD2 | c.1250A>G (p.Asp417Gly) c.1331A>G (p.Asp444Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719395T>G | CA374039356 | BICD2 | c.1250A>C (p.Asp417Ala) c.1331A>C (p.Asp444Ala) | dbSNP |
| 9 | g.92719395T= | CA1864362284 | BICD2 | c.1250A= (p.Asp417=) c.1331A= (p.Asp444=) | |
| 9 | g.92719396C>A | CA374039377 | BICD2 | c.1249G>T (p.Asp417Tyr) c.1330G>T (p.Asp444Tyr) | gnomAD v4 |
| 9 | g.92719396C= | CA1864362294 | BICD2 | c.1249G= (p.Asp417=) c.1330G= (p.Asp444=) | |
| 9 | g.92719396C>G | CA374039380 | BICD2 | c.1249G>C (p.Asp417His) c.1330G>C (p.Asp444His) | |
| 9 | g.92719396C>T | CA374039372 | BICD2 | c.1249G>A (p.Asp417Asn) c.1330G>A (p.Asp444Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719397A>C | CA466343133 | BICD2 | c.1248T>G (p.Arg416=) c.1329T>G (p.Arg443=) | |
| 9 | g.92719397A>G | CA466343132 | BICD2 | c.1248T>C (p.Arg416=) c.1329T>C (p.Arg443=) | |
| 9 | g.92719397A>T | CA466343131 | BICD2 | c.1248T>A (p.Arg416=) c.1329T>A (p.Arg443=) | |
| 9 | g.92719398C>A | CA374039384 | BICD2 | c.1247G>T (p.Arg416Leu) c.1328G>T (p.Arg443Leu) | |
| 9 | g.92719398C= | CA1864362297 | BICD2 | c.1247G= (p.Arg416=) c.1328G= (p.Arg443=) | |
| 9 | g.92719398C>G | CA374039386 | BICD2 | c.1247G>C (p.Arg416Pro) c.1328G>C (p.Arg443Pro) | |
| 9 | g.92719398C>T | CA374039394 | BICD2 | c.1247G>A (p.Arg416His) c.1328G>A (p.Arg443His) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719399G>A | CA374039399 | BICD2 | c.1246C>T (p.Arg416Cys) c.1327C>T (p.Arg443Cys) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719399G>C | CA374039402 | BICD2 | c.1246C>G (p.Arg416Gly) c.1327C>G (p.Arg443Gly) | |
| 9 | g.92719399G= | CA1864362301 | BICD2 | c.1246C= (p.Arg416=) c.1327C= (p.Arg443=) | |
| 9 | g.92719399G>T | CA374039404 | BICD2 | c.1246C>A (p.Arg416Ser) c.1327C>A (p.Arg443Ser) | |
| 9 | g.92719400G>A | CA466343136 | BICD2 | c.1245C>T (p.Asp415=) c.1326C>T (p.Asp442=) | |
| 9 | g.92719400G>C | CA374039409 | BICD2 | c.1245C>G (p.Asp415Glu) c.1326C>G (p.Asp442Glu) | |
| 9 | g.92719400G>T | CA374039410 | BICD2 | c.1245C>A (p.Asp415Glu) c.1326C>A (p.Asp442Glu) | |
| 9 | g.92719401T>A | CA374039411 | BICD2 | c.1244A>T (p.Asp415Val) c.1325A>T (p.Asp442Val) | |
| 9 | g.92719401T>C | CA374039412 | BICD2 | c.1244A>G (p.Asp415Gly) c.1325A>G (p.Asp442Gly) | dbSNP |
| 9 | g.92719401T>G | CA374039416 | BICD2 | c.1244A>C (p.Asp415Ala) c.1325A>C (p.Asp442Ala) | dbSNP |
| 9 | g.92719401T= | CA1864362304 | BICD2 | c.1244A= (p.Asp415=) c.1325A= (p.Asp442=) | |
| 9 | g.92719402C>A | CA374039424 | BICD2 | c.1243G>T (p.Asp415Tyr) c.1324G>T (p.Asp442Tyr) | |
| 9 | g.92719402C>G | CA374039428 | BICD2 | c.1243G>C (p.Asp415His) c.1324G>C (p.Asp442His) | |
| 9 | g.92719402C>T | CA374039420 | BICD2 | c.1243G>A (p.Asp415Asn) c.1324G>A (p.Asp442Asn) | |
| 9 | g.92719402_92719405delinsCCTT | CA1864362306 | BICD2 | c.1240_1243delinsAAGG (p.Lys414=) c.1321_1324delinsAAGG (p.Lys441=) | |
| 9 | g.92719403C>A | CA374039441 | BICD2 | c.1242G>T (p.Lys414Asn) c.1323G>T (p.Lys441Asn) | |
| 9 | g.92719403C>G | CA374039448 | BICD2 | c.1242G>C (p.Lys414Asn) c.1323G>C (p.Lys441Asn) | |
| 9 | g.92719403C>T | CA466343144 | BICD2 | c.1242G>A (p.Lys414=) c.1323G>A (p.Lys441=) | gnomAD v4 |
| 9 | g.92719405_92719407del | CA589579160 | BICD2 | c.1240_1242del (p.Lys414del) c.1321_1323del (p.Lys441del) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719404T>A | CA374039453 | BICD2 | c.1241A>T (p.Lys414Met) c.1322A>T (p.Lys441Met) | |
| 9 | g.92719404T>C | CA374039470 | BICD2 | c.1241A>G (p.Lys414Arg) c.1322A>G (p.Lys441Arg) | |
| 9 | g.92719404T>G | CA374039474 | BICD2 | c.1241A>C (p.Lys414Thr) c.1322A>C (p.Lys441Thr) | |
| 9 | g.92719405T>A | CA374039484 | BICD2 | c.1240A>T (p.Lys414Ter) c.1321A>T (p.Lys441Ter) | |
| 9 | g.92719405T>C | CA374039475 | BICD2 | c.1240A>G (p.Lys414Glu) c.1321A>G (p.Lys441Glu) | |
| 9 | g.92719405T>G | CA374039478 | BICD2 | c.1240A>C (p.Lys414Gln) c.1321A>C (p.Lys441Gln) | |
| 9 | g.92719406C>A | CA374039495 | BICD2 | c.1239G>T (p.Glu413Asp) c.1320G>T (p.Glu440Asp) | |
| 9 | g.92719406C= | CA1864362311 | BICD2 | c.1239G= (p.Glu413=) c.1320G= (p.Glu440=) | |
| 9 | g.92719406C>G | CA374039498 | BICD2 | c.1239G>C (p.Glu413Asp) c.1320G>C (p.Glu440Asp) | |
| 9 | g.92719406C>T | CA466343149 | BICD2 | c.1239G>A (p.Glu413=) c.1320G>A (p.Glu440=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.92719407T>A | CA374039501 | BICD2 | c.1238A>T (p.Glu413Val) c.1319A>T (p.Glu440Val) | |
| 9 | g.92719407T>C | CA374039515 | BICD2 | c.1238A>G (p.Glu413Gly) c.1319A>G (p.Glu440Gly) | |
| 9 | g.92719407T>G | CA374039520 | BICD2 | c.1238A>C (p.Glu413Ala) c.1319A>C (p.Glu440Ala) | |
| 9 | g.92719408C>A | CA374039538 | BICD2 | c.1237G>T (p.Glu413Ter) c.1318G>T (p.Glu440Ter) | |
| 9 | g.92719408C= | CA1864362314 | BICD2 | c.1237G= (p.Glu413=) c.1318G= (p.Glu440=) | |
| 9 | g.92719408C>G | CA374039535 | BICD2 | c.1237G>C (p.Glu413Gln) c.1318G>C (p.Glu440Gln) | |
| 9 | g.92719408C>T | CA5126599 | BICD2 | c.1237G>A (p.Glu413Lys) c.1318G>A (p.Glu440Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719408_92719411delinsCGTT | CA1864362316 | BICD2 | c.1234_1237delinsAACG (p.Asn412=) c.1315_1318delinsAACG (p.Asn439=) | |
| 9 | g.92719409G>A | CA5126600 | BICD2 | c.1236C>T (p.Asn412=) c.1317C>T (p.Asn439=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719409G>C | CA374039553 | BICD2 | c.1236C>G (p.Asn412Lys) c.1317C>G (p.Asn439Lys) | |
| 9 | g.92719409G= | CA1864362323 | BICD2 | c.1236C= (p.Asn412=) c.1317C= (p.Asn439=) | |
| 9 | g.92719409G>T | CA374039561 | BICD2 | c.1236C>A (p.Asn412Lys) c.1317C>A (p.Asn439Lys) | |
| 9 | g.92719411_92719413del | CA589579161 | BICD2 | c.1234_1236del (p.Asn412del) c.1315_1317del (p.Asn439del) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719410T>A | CA374039564 | BICD2 | c.1235A>T (p.Asn412Ile) c.1316A>T (p.Asn439Ile) | |
| 9 | g.92719410T>C | CA374039576 | BICD2 | c.1235A>G (p.Asn412Ser) c.1316A>G (p.Asn439Ser) | gnomAD v4 |
| 9 | g.92719410T>G | CA374039580 | BICD2 | c.1235A>C (p.Asn412Thr) c.1316A>C (p.Asn439Thr) | |
| 9 | g.92719411T>A | CA374039609 | BICD2 | c.1234A>T (p.Asn412Tyr) c.1315A>T (p.Asn439Tyr) | |
| 9 | g.92719411T>C | CA374039596 | BICD2 | c.1234A>G (p.Asn412Asp) c.1315A>G (p.Asn439Asp) | |
| 9 | g.92719411T>G | CA374039602 | BICD2 | c.1234A>C (p.Asn412His) c.1315A>C (p.Asn439His) | |
| 9 | g.92719412G>A | CA466343157 | BICD2 | c.1233C>T (p.Asp411=) c.1314C>T (p.Asp438=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719412G>C | CA374039612 | BICD2 | c.1233C>G (p.Asp411Glu) c.1314C>G (p.Asp438Glu) | |
| 9 | g.92719412G= | CA1864362331 | BICD2 | c.1233C= (p.Asp411=) c.1314C= (p.Asp438=) | |
| 9 | g.92719412G>T | CA374039628 | BICD2 | c.1233C>A (p.Asp411Glu) c.1314C>A (p.Asp438Glu) | |
| 9 | g.92719413T>A | CA374039631 | BICD2 | c.1232A>T (p.Asp411Val) c.1313A>T (p.Asp438Val) | |
| 9 | g.92719413T>C | CA374039632 | BICD2 | c.1232A>G (p.Asp411Gly) c.1313A>G (p.Asp438Gly) | |
| 9 | g.92719413T>G | CA374039633 | BICD2 | c.1232A>C (p.Asp411Ala) c.1313A>C (p.Asp438Ala) | |
| 9 | g.92719414C>A | CA374039657 | BICD2 | c.1231G>T (p.Asp411Tyr) c.1312G>T (p.Asp438Tyr) | |
| 9 | g.92719414C= | CA1864362334 | BICD2 | c.1231G= (p.Asp411=) c.1312G= (p.Asp438=) | |
| 9 | g.92719414C>G | CA374039635 | BICD2 | c.1231G>C (p.Asp411His) c.1312G>C (p.Asp438His) | |
| 9 | g.92719414C>T | CA374039638 | BICD2 | c.1231G>A (p.Asp411Asn) c.1312G>A (p.Asp438Asn) | dbSNP |
| 9 | g.92719415C>A | CA466343160 | BICD2 | c.1230G>T (p.Leu410=) c.1311G>T (p.Leu437=) | |
| 9 | g.92719415C= | CA1864362337 | BICD2 | c.1230G= (p.Leu410=) c.1311G= (p.Leu437=) | |
| 9 | g.92719415C>G | CA466343161 | BICD2 | c.1230G>C (p.Leu410=) c.1311G>C (p.Leu437=) | |
| 9 | g.92719415C>T | CA466343162 | BICD2 | c.1230G>A (p.Leu410=) c.1311G>A (p.Leu437=) | ClinVar dbSNP |
| 9 | g.92719416A>C | CA374039660 | BICD2 | c.1229T>G (p.Leu410Arg) c.1310T>G (p.Leu437Arg) | |
| 9 | g.92719416A>G | CA374039675 | BICD2 | c.1229T>C (p.Leu410Pro) c.1310T>C (p.Leu437Pro) | |
| 9 | g.92719416A>T | CA374039694 | BICD2 | c.1229T>A (p.Leu410Gln) c.1310T>A (p.Leu437Gln) | |
| 9 | g.92719417G>A | CA466343165 | BICD2 | c.1228C>T (p.Leu410=) c.1309C>T (p.Leu437=) | |
| 9 | g.92719417G>C | CA5126601 | BICD2 | c.1228C>G (p.Leu410Val) c.1309C>G (p.Leu437Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719417G= | CA1864362339 | BICD2 | c.1228C= (p.Leu410=) c.1309C= (p.Leu437=) | |
| 9 | g.92719417G>T | CA374039703 | BICD2 | c.1228C>A (p.Leu410Met) c.1309C>A (p.Leu437Met) | |
| 9 | g.92719418G>A | CA466343168 | BICD2 | c.1227C>T (p.Ala409=) c.1308C>T (p.Ala436=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719418G>C | CA466343169 | BICD2 | c.1227C>G (p.Ala409=) c.1308C>G (p.Ala436=) | gnomAD v4 |
| 9 | g.92719418G= | CA1864362341 | BICD2 | c.1227C= (p.Ala409=) c.1308C= (p.Ala436=) | |
| 9 | g.92719418G>T | CA466343170 | BICD2 | c.1227C>A (p.Ala409=) c.1308C>A (p.Ala436=) | |
| 9 | g.92719419G>A | CA5126602 | BICD2 | c.1226C>T (p.Ala409Val) c.1307C>T (p.Ala436Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719419G>C | CA374039713 | BICD2 | c.1226C>G (p.Ala409Gly) c.1307C>G (p.Ala436Gly) | |
| 9 | g.92719419G= | CA1864362344 | BICD2 | c.1226C= (p.Ala409=) c.1307C= (p.Ala436=) | |
| 9 | g.92719419G>T | CA374039720 | BICD2 | c.1226C>A (p.Ala409Asp) c.1307C>A (p.Ala436Asp) | |
| 9 | g.92719420C>A | CA374039724 | BICD2 | c.1225G>T (p.Ala409Ser) c.1306G>T (p.Ala436Ser) | |
| 9 | g.92719420C>G | CA374039729 | BICD2 | c.1225G>C (p.Ala409Pro) c.1306G>C (p.Ala436Pro) | |
| 9 | g.92719420C>T | CA374039736 | BICD2 | c.1225G>A (p.Ala409Thr) c.1306G>A (p.Ala436Thr) | |
| 9 | g.92719421T>A | CA466343177 | BICD2 | c.1224A>T (p.Thr408=) c.1305A>T (p.Thr435=) | |
| 9 | g.92719421T>C | CA5126603 | BICD2 | c.1224A>G (p.Thr408=) c.1305A>G (p.Thr435=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719421T>G | CA466343178 | BICD2 | c.1224A>C (p.Thr408=) c.1305A>C (p.Thr435=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719421T= | CA1864362347 | BICD2 | c.1224A= (p.Thr408=) c.1305A= (p.Thr435=) | |
| 9 | g.92719422G>A | CA374039737 | BICD2 | c.1223C>T (p.Thr408Ile) c.1304C>T (p.Thr435Ile) | |
| 9 | g.92719422G>C | CA374039746 | BICD2 | c.1223C>G (p.Thr408Arg) c.1304C>G (p.Thr435Arg) | |
| 9 | g.92719422G>T | CA374039740 | BICD2 | c.1223C>A (p.Thr408Lys) c.1304C>A (p.Thr435Lys) | |
| 9 | g.92719423T>A | CA374039749 | BICD2 | c.1222A>T (p.Thr408Ser) c.1303A>T (p.Thr435Ser) | |
| 9 | g.92719423T>C | CA374039754 | BICD2 | c.1222A>G (p.Thr408Ala) c.1303A>G (p.Thr435Ala) | gnomAD v4 |
| 9 | g.92719423T>G | CA374039758 | BICD2 | c.1222A>C (p.Thr408Pro) c.1303A>C (p.Thr435Pro) | |
| 9 | g.92719423_92719441delinsTCTGCCGCTCCTTGCTGGC | CA1864362350 | BICD2 | c.1204_1222delinsGCCAGCAAGGAGCGGCAGA (p.Ala402=) c.1285_1303delinsGCCAGCAAGGAGCGGCAGA (p.Ala429=) | |
| 9 | g.92719424C>A | CA374039761 | BICD2 | c.1221G>T (p.Gln407His) c.1302G>T (p.Gln434His) | |
| 9 | g.92719424C>G | CA374039766 | BICD2 | c.1221G>C (p.Gln407His) c.1302G>C (p.Gln434His) | |
| 9 | g.92719424C>T | CA466343184 | BICD2 | c.1221G>A (p.Gln407=) c.1302G>A (p.Gln434=) | ClinVar gnomAD v4 |
| 9 | g.92719428_92719445del | CA589579162 | BICD2 | c.1204_1221del (p.Ala402_Gln407del) c.1285_1302del (p.Ala429_Gln434del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719425T>A | CA374039768 | BICD2 | c.1220A>T (p.Gln407Leu) c.1301A>T (p.Gln434Leu) | |
| 9 | g.92719425T>C | CA374039774 | BICD2 | c.1220A>G (p.Gln407Arg) c.1301A>G (p.Gln434Arg) | COSMIC COSMIC |
| 9 | g.92719425T>G | CA374039777 | BICD2 | c.1220A>C (p.Gln407Pro) c.1301A>C (p.Gln434Pro) | |
| 9 | g.92719426G>A | CA374039781 | BICD2 | c.1219C>T (p.Gln407Ter) c.1300C>T (p.Gln434Ter) | |
| 9 | g.92719426G>C | CA374039782 | BICD2 | c.1219C>G (p.Gln407Glu) c.1300C>G (p.Gln434Glu) | |
| 9 | g.92719426G>T | CA374039783 | BICD2 | c.1219C>A (p.Gln407Lys) c.1300C>A (p.Gln434Lys) | |
| 9 | g.92719427C>A | CA466343188 | BICD2 | c.1218G>T (p.Arg406=) c.1299G>T (p.Arg433=) | |
| 9 | g.92719427C= | CA1864362354 | BICD2 | c.1218G= (p.Arg406=) c.1299G= (p.Arg433=) | |
| 9 | g.92719427C>G | CA466343189 | BICD2 | c.1218G>C (p.Arg406=) c.1299G>C (p.Arg433=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719427C>T | CA5126604 | BICD2 | c.1218G>A (p.Arg406=) c.1299G>A (p.Arg433=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719428C>A | CA374039787 | BICD2 | c.1217G>T (p.Arg406Leu) c.1298G>T (p.Arg433Leu) | |
| 9 | g.92719428C= | CA1864362357 | BICD2 | c.1217G= (p.Arg406=) c.1298G= (p.Arg433=) | |
| 9 | g.92719428C>G | CA374039785 | BICD2 | c.1217G>C (p.Arg406Pro) c.1298G>C (p.Arg433Pro) | |
| 9 | g.92719428C>T | CA5126605 | BICD2 | c.1217G>A (p.Arg406Gln) c.1298G>A (p.Arg433Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719429del | CA2690686272 | BICD2 | c.1216del (p.Arg406GlyfsTer?) c.1297del (p.Arg433GlyfsTer?) | gnomAD v4 |
| 9 | g.92719429G>A | CA374039789 | BICD2 | c.1216C>T (p.Arg406Trp) c.1297C>T (p.Arg433Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719429G>C | CA374039791 | BICD2 | c.1216C>G (p.Arg406Gly) c.1297C>G (p.Arg433Gly) | gnomAD v4 |
| 9 | g.92719429G= | CA1864362362 | BICD2 | c.1216C= (p.Arg406=) c.1297C= (p.Arg433=) | |
| 9 | g.92719429G>T | CA466343193 | BICD2 | c.1216C>A (p.Arg406=) c.1297C>A (p.Arg433=) | |
| 9 | g.92719430C>A | CA374039793 | BICD2 | c.1215G>T (p.Glu405Asp) c.1296G>T (p.Glu432Asp) | |
| 9 | g.92719430C>G | CA374039795 | BICD2 | c.1215G>C (p.Glu405Asp) c.1296G>C (p.Glu432Asp) | |
| 9 | g.92719430C>T | CA466343194 | BICD2 | c.1215G>A (p.Glu405=) c.1296G>A (p.Glu432=) | |
| 9 | g.92719431T>A | CA374039797 | BICD2 | c.1214A>T (p.Glu405Val) c.1295A>T (p.Glu432Val) | |
| 9 | g.92719431T>C | CA374039798 | BICD2 | c.1214A>G (p.Glu405Gly) c.1295A>G (p.Glu432Gly) | gnomAD v4 |
| 9 | g.92719431T>G | CA374039802 | BICD2 | c.1214A>C (p.Glu405Ala) c.1295A>C (p.Glu432Ala) | |
| 9 | g.92719432C>A | CA374039808 | BICD2 | c.1213G>T (p.Glu405Ter) c.1294G>T (p.Glu432Ter) | |
| 9 | g.92719432C= | CA1864362367 | BICD2 | c.1213G= (p.Glu405=) c.1294G= (p.Glu432=) | |
| 9 | g.92719432C>G | CA196341022 | BICD2 | c.1213G>C (p.Glu405Gln) c.1294G>C (p.Glu432Gln) | dbSNP |
| 9 | g.92719432C>T | CA374039812 | BICD2 | c.1213G>A (p.Glu405Lys) c.1294G>A (p.Glu432Lys) | |
| 9 | g.92719433C>A | CA374039818 | BICD2 | c.1212G>T (p.Lys404Asn) c.1293G>T (p.Lys431Asn) | |
| 9 | g.92719433C= | CA1864362374 | BICD2 | c.1212G= (p.Lys404=) c.1293G= (p.Lys431=) | |
| 9 | g.92719433C>G | CA374039820 | BICD2 | c.1212G>C (p.Lys404Asn) c.1293G>C (p.Lys431Asn) | |
| 9 | g.92719433C>T | CA196341023 | BICD2 | c.1212G>A (p.Lys404=) c.1293G>A (p.Lys431=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719434T>A | CA374039830 | BICD2 | c.1211A>T (p.Lys404Met) c.1292A>T (p.Lys431Met) | |
| 9 | g.92719434T>C | CA5126606 | BICD2 | c.1211A>G (p.Lys404Arg) c.1292A>G (p.Lys431Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719434T>G | CA374039825 | BICD2 | c.1211A>C (p.Lys404Thr) c.1292A>C (p.Lys431Thr) | |
| 9 | g.92719434T= | CA1864362380 | BICD2 | c.1211A= (p.Lys404=) c.1292A= (p.Lys431=) | |
| 9 | g.92719435T>A | CA374039835 | BICD2 | c.1210A>T (p.Lys404Ter) c.1291A>T (p.Lys431Ter) | |
| 9 | g.92719435T>C | CA374039842 | BICD2 | c.1210A>G (p.Lys404Glu) c.1291A>G (p.Lys431Glu) | |
| 9 | g.92719435T>G | CA374039845 | BICD2 | c.1210A>C (p.Lys404Gln) c.1291A>C (p.Lys431Gln) | |
| 9 | g.92719436G>A | CA466343197 | BICD2 | c.1209C>T (p.Ser403=) c.1290C>T (p.Ser430=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719436G>C | CA196341024 | BICD2 | c.1209C>G (p.Ser403Arg) c.1290C>G (p.Ser430Arg) | dbSNP |
| 9 | g.92719436G= | CA1864362384 | BICD2 | c.1209C= (p.Ser403=) c.1290C= (p.Ser430=) | |
| 9 | g.92719436G>T | CA374039850 | BICD2 | c.1209C>A (p.Ser403Arg) c.1290C>A (p.Ser430Arg) | |
| 9 | g.92719437C>A | CA374039865 | BICD2 | c.1208G>T (p.Ser403Ile) c.1289G>T (p.Ser430Ile) | |
| 9 | g.92719437C>G | CA374039858 | BICD2 | c.1208G>C (p.Ser403Thr) c.1289G>C (p.Ser430Thr) | |
| 9 | g.92719437C>T | CA374039856 | BICD2 | c.1208G>A (p.Ser403Asn) c.1289G>A (p.Ser430Asn) | |
| 9 | g.92719438T>A | CA374039872 | BICD2 | c.1207A>T (p.Ser403Cys) c.1288A>T (p.Ser430Cys) | |
| 9 | g.92719438T>C | CA374039880 | BICD2 | c.1207A>G (p.Ser403Gly) c.1288A>G (p.Ser430Gly) | |
| 9 | g.92719438T>G | CA196341026 | BICD2 | c.1207A>C (p.Ser403Arg) c.1288A>C (p.Ser430Arg) | dbSNP |
| 9 | g.92719438T= | CA1864362387 | BICD2 | c.1207A= (p.Ser403=) c.1288A= (p.Ser430=) | |
| 9 | g.92719439G>A | CA466343201 | BICD2 | c.1206C>T (p.Ala402=) c.1287C>T (p.Ala429=) | |
| 9 | g.92719439G>C | CA466343199 | BICD2 | c.1206C>G (p.Ala402=) c.1287C>G (p.Ala429=) | |
| 9 | g.92719439G>T | CA466343200 | BICD2 | c.1206C>A (p.Ala402=) c.1287C>A (p.Ala429=) | |
| 9 | g.92719440G>A | CA5126607 | BICD2 | c.1205C>T (p.Ala402Val) c.1286C>T (p.Ala429Val) | dbSNP ExAC gnomAD v2 |
| 9 | g.92719440G>C | CA374039902 | BICD2 | c.1205C>G (p.Ala402Gly) c.1286C>G (p.Ala429Gly) | |
| 9 | g.92719440G= | CA1864362391 | BICD2 | c.1205C= (p.Ala402=) c.1286C= (p.Ala429=) | |
| 9 | g.92719440G>T | CA374039905 | BICD2 | c.1205C>A (p.Ala402Asp) c.1286C>A (p.Ala429Asp) | |
| 9 | g.92719442_92719454del | CA2690686273 | BICD2 | c.1193_1205del (p.Arg398ProfsTer?) c.1274_1286del (p.Arg425ProfsTer?) | gnomAD v4 |
| 9 | g.92719441C>A | CA374039910 | BICD2 | c.1204G>T (p.Ala402Ser) c.1285G>T (p.Ala429Ser) | gnomAD v4 |
| 9 | g.92719441C= | CA1864362393 | BICD2 | c.1204G= (p.Ala402=) c.1285G= (p.Ala429=) | |
| 9 | g.92719441C>G | CA374039908 | BICD2 | c.1204G>C (p.Ala402Pro) c.1285G>C (p.Ala429Pro) | |
| 9 | g.92719441C>T | CA374039909 | BICD2 | c.1204G>A (p.Ala402Thr) c.1285G>A (p.Ala429Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719442C>A | CA5126608 | BICD2 | c.1203G>T (p.Gln401His) c.1284G>T (p.Gln428His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719442C= | CA1864362397 | BICD2 | c.1203G= (p.Gln401=) c.1284G= (p.Gln428=) | |
| 9 | g.92719442C>G | CA374039911 | BICD2 | c.1203G>C (p.Gln401His) c.1284G>C (p.Gln428His) | |
| 9 | g.92719442C>T | CA466343203 | BICD2 | c.1203G>A (p.Gln401=) c.1284G>A (p.Gln428=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719443T>A | CA374039913 | BICD2 | c.1202A>T (p.Gln401Leu) c.1283A>T (p.Gln428Leu) | |
| 9 | g.92719443T>C | CA374039915 | BICD2 | c.1202A>G (p.Gln401Arg) c.1283A>G (p.Gln428Arg) | |
| 9 | g.92719443T>G | CA374039919 | BICD2 | c.1202A>C (p.Gln401Pro) c.1283A>C (p.Gln428Pro) | |
| 9 | g.92719444G>A | CA374039934 | BICD2 | c.1201C>T (p.Gln401Ter) c.1282C>T (p.Gln428Ter) | |
| 9 | g.92719444G>C | CA374039936 | BICD2 | c.1201C>G (p.Gln401Glu) c.1282C>G (p.Gln428Glu) | |
| 9 | g.92719444G= | CA1864362404 | BICD2 | c.1201C= (p.Gln401=) c.1282C= (p.Gln428=) | |
| 9 | g.92719444G>T | CA374039947 | BICD2 | c.1201C>A (p.Gln401Lys) c.1282C>A (p.Gln428Lys) | dbSNP |
| 9 | g.92719445C>A | CA466343205 | BICD2 | c.1200G>T (p.Leu400=) c.1281G>T (p.Leu427=) | |
| 9 | g.92719445C>G | CA466343204 | BICD2 | c.1200G>C (p.Leu400=) c.1281G>C (p.Leu427=) | |
| 9 | g.92719445C>T | CA466343206 | BICD2 | c.1200G>A (p.Leu400=) c.1281G>A (p.Leu427=) | gnomAD v4 |
| 9 | g.92719446A>C | CA374039954 | BICD2 | c.1199T>G (p.Leu400Arg) c.1280T>G (p.Leu427Arg) | |
| 9 | g.92719446A>G | CA374039958 | BICD2 | c.1199T>C (p.Leu400Pro) c.1280T>C (p.Leu427Pro) | |
| 9 | g.92719446A>T | CA374039962 | BICD2 | c.1199T>A (p.Leu400Gln) c.1280T>A (p.Leu427Gln) | |
| 9 | g.92719447G>A | CA466343208 | BICD2 | c.1198C>T (p.Leu400=) c.1279C>T (p.Leu427=) | gnomAD v4 |
| 9 | g.92719447G>C | CA374039966 | BICD2 | c.1198C>G (p.Leu400Val) c.1279C>G (p.Leu427Val) | |
| 9 | g.92719447G>T | CA374039968 | BICD2 | c.1198C>A (p.Leu400Met) c.1279C>A (p.Leu427Met) | |
| 9 | g.92719448G>A | CA466343209 | BICD2 | c.1197C>T (p.Arg399=) c.1278C>T (p.Arg426=) | gnomAD v4 |
| 9 | g.92719448G>C | CA466343210 | BICD2 | c.1197C>G (p.Arg399=) c.1278C>G (p.Arg426=) | |
| 9 | g.92719448G>T | CA466343211 | BICD2 | c.1197C>A (p.Arg399=) c.1278C>A (p.Arg426=) | |
| 9 | g.92719449C>A | CA374039972 | BICD2 | c.1196G>T (p.Arg399Leu) c.1277G>T (p.Arg426Leu) | gnomAD v4 |
| 9 | g.92719449C= | CA1864362407 | BICD2 | c.1196G= (p.Arg399=) c.1277G= (p.Arg426=) | |
| 9 | g.92719449C>G | CA374039969 | BICD2 | c.1196G>C (p.Arg399Pro) c.1277G>C (p.Arg426Pro) | |
| 9 | g.92719449C>T | CA5126609 | BICD2 | c.1196G>A (p.Arg399His) c.1277G>A (p.Arg426His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719450G>A | CA5126610 | BICD2 | c.1195C>T (p.Arg399Cys) c.1276C>T (p.Arg426Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719450G>C | CA374039978 | BICD2 | c.1195C>G (p.Arg399Gly) c.1276C>G (p.Arg426Gly) | |
| 9 | g.92719450G= | CA1864362412 | BICD2 | c.1195C= (p.Arg399=) c.1276C= (p.Arg426=) | |
| 9 | g.92719450G>T | CA374039982 | BICD2 | c.1195C>A (p.Arg399Ser) c.1276C>A (p.Arg426Ser) | |
| 9 | g.92719451C>A | CA466343216 | BICD2 | c.1194G>T (p.Arg398=) c.1275G>T (p.Arg425=) | gnomAD v4 |
| 9 | g.92719451C>G | CA466343217 | BICD2 | c.1194G>C (p.Arg398=) c.1275G>C (p.Arg425=) | |
| 9 | g.92719451C>T | CA466343218 | BICD2 | c.1194G>A (p.Arg398=) c.1275G>A (p.Arg425=) | |
| 9 | g.92719452C>A | CA374039988 | BICD2 | c.1193G>T (p.Arg398Leu) c.1274G>T (p.Arg425Leu) | |
| 9 | g.92719452C= | CA1864362416 | BICD2 | c.1193G= (p.Arg398=) c.1274G= (p.Arg425=) | |
| 9 | g.92719452C>G | CA374039993 | BICD2 | c.1193G>C (p.Arg398Pro) c.1274G>C (p.Arg425Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719452C>T | CA5126611 | BICD2 | c.1193G>A (p.Arg398Gln) c.1274G>A (p.Arg425Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.92719453G>A | CA5126612 | BICD2 | c.1192C>T (p.Arg398Trp) c.1273C>T (p.Arg425Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719453G>C | CA374040004 | BICD2 | c.1192C>G (p.Arg398Gly) c.1273C>G (p.Arg425Gly) | |
| 9 | g.92719453G= | CA1864362423 | BICD2 | c.1192C= (p.Arg398=) c.1273C= (p.Arg425=) | |
| 9 | g.92719453G>T | CA196341071 | BICD2 | c.1192C>A (p.Arg398=) c.1273C>A (p.Arg425=) | dbSNP |
| 9 | g.92719454C>A | CA466343222 | BICD2 | c.1191G>T (p.Leu397=) c.1272G>T (p.Leu424=) | |
| 9 | g.92719454C= | CA1864362427 | BICD2 | c.1191G= (p.Leu397=) c.1272G= (p.Leu424=) | |
| 9 | g.92719454C>G | CA466343223 | BICD2 | c.1191G>C (p.Leu397=) c.1272G>C (p.Leu424=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719454C>T | CA466343224 | BICD2 | c.1191G>A (p.Leu397=) c.1272G>A (p.Leu424=) | gnomAD v4 |
| 9 | g.92719455A>C | CA374040007 | BICD2 | c.1190T>G (p.Leu397Arg) c.1271T>G (p.Leu424Arg) | |
| 9 | g.92719455A>G | CA374040008 | BICD2 | c.1190T>C (p.Leu397Pro) c.1271T>C (p.Leu424Pro) | |
| 9 | g.92719455A>T | CA374040011 | BICD2 | c.1190T>A (p.Leu397Gln) c.1271T>A (p.Leu424Gln) | |
| 9 | g.92719456G>A | CA466343227 | BICD2 | c.1189C>T (p.Leu397=) c.1270C>T (p.Leu424=) | gnomAD v4 |
| 9 | g.92719456G>C | CA374040014 | BICD2 | c.1189C>G (p.Leu397Val) c.1270C>G (p.Leu424Val) | ClinVar dbSNP |
| 9 | g.92719456G= | CA1864362429 | BICD2 | c.1189C= (p.Leu397=) c.1270C= (p.Leu424=) | |
| 9 | g.92719456G>T | CA374040015 | BICD2 | c.1189C>A (p.Leu397Met) c.1270C>A (p.Leu424Met) | |
| 9 | g.92719457G>A | CA5126613 | BICD2 | c.1188C>T (p.Ala396=) c.1269C>T (p.Ala423=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719457G>C | CA466343228 | BICD2 | c.1188C>G (p.Ala396=) c.1269C>G (p.Ala423=) | |
| 9 | g.92719457G= | CA1864362431 | BICD2 | c.1188C= (p.Ala396=) c.1269C= (p.Ala423=) | |
| 9 | g.92719457G>T | CA466343229 | BICD2 | c.1188C>A (p.Ala396=) c.1269C>A (p.Ala423=) | |
| 9 | g.92719458G>A | CA374040016 | BICD2 | c.1187C>T (p.Ala396Val) c.1268C>T (p.Ala423Val) | |
| 9 | g.92719458G>C | CA374040020 | BICD2 | c.1187C>G (p.Ala396Gly) c.1268C>G (p.Ala423Gly) | |
| 9 | g.92719458G>T | CA374040017 | BICD2 | c.1187C>A (p.Ala396Asp) c.1268C>A (p.Ala423Asp) | |
| 9 | g.92719459C>A | CA374040022 | BICD2 | c.1186G>T (p.Ala396Ser) c.1267G>T (p.Ala423Ser) | |
| 9 | g.92719459C>G | CA374040024 | BICD2 | c.1186G>C (p.Ala396Pro) c.1267G>C (p.Ala423Pro) | |
| 9 | g.92719459C>T | CA374040026 | BICD2 | c.1186G>A (p.Ala396Thr) c.1267G>A (p.Ala423Thr) | |
| 9 | g.92719460A= | CA1864362433 | BICD2 | c.1185T= (p.Ser395=) c.1266T= (p.Ser422=) | |
| 9 | g.92719460A>C | CA374040029 | BICD2 | c.1185T>G (p.Ser395Arg) c.1266T>G (p.Ser422Arg) | |
| 9 | g.92719460A>G | CA466343231 | BICD2 | c.1185T>C (p.Ser395=) c.1266T>C (p.Ser422=) | |
| 9 | g.92719460A>T | CA5126614 | BICD2 | c.1185T>A (p.Ser395Arg) c.1266T>A (p.Ser422Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719461C>A | CA374040035 | BICD2 | c.1184G>T (p.Ser395Ile) c.1265G>T (p.Ser422Ile) | |
| 9 | g.92719461C= | CA1864362435 | BICD2 | c.1184G= (p.Ser395=) c.1265G= (p.Ser422=) | |
| 9 | g.92719461C>G | CA374040037 | BICD2 | c.1184G>C (p.Ser395Thr) c.1265G>C (p.Ser422Thr) | |
| 9 | g.92719461C>T | CA5126615 | BICD2 | c.1184G>A (p.Ser395Asn) c.1265G>A (p.Ser422Asn) | dbSNP ExAC |
| 9 | g.92719462T>A | CA374040041 | BICD2 | c.1183A>T (p.Ser395Cys) c.1264A>T (p.Ser422Cys) | |
| 9 | g.92719462T>C | CA374040045 | BICD2 | c.1183A>G (p.Ser395Gly) c.1264A>G (p.Ser422Gly) | |
| 9 | g.92719462T>G | CA374040053 | BICD2 | c.1183A>C (p.Ser395Arg) c.1264A>C (p.Ser422Arg) | |
| 9 | g.92719463C>A | CA466343236 | BICD2 | c.1182G>T (p.Leu394=) c.1263G>T (p.Leu421=) | |
| 9 | g.92719463C>G | CA466343237 | BICD2 | c.1182G>C (p.Leu394=) c.1263G>C (p.Leu421=) | |
| 9 | g.92719463C>T | CA466343238 | BICD2 | c.1182G>A (p.Leu394=) c.1263G>A (p.Leu421=) | gnomAD v4 |
| 9 | g.92719464A>C | CA374040060 | BICD2 | c.1181T>G (p.Leu394Arg) c.1262T>G (p.Leu421Arg) | |
| 9 | g.92719464A>G | CA374040066 | BICD2 | c.1181T>C (p.Leu394Pro) c.1262T>C (p.Leu421Pro) | |
| 9 | g.92719464A>T | CA374040064 | BICD2 | c.1181T>A (p.Leu394Gln) c.1262T>A (p.Leu421Gln) | |
| 9 | g.92719464dup | CA2579381919 | BICD2 | c.1181dup (p.Ser395GlufsTer23) c.1262dup (p.Ser422GlufsTer23) | |
| 9 | g.92719465G>A | CA466343243 | BICD2 | c.1180C>T (p.Leu394=) c.1261C>T (p.Leu421=) | dbSNP gnomAD v4 |
| 9 | g.92719465G>C | CA374040068 | BICD2 | c.1180C>G (p.Leu394Val) c.1261C>G (p.Leu421Val) | gnomAD v4 |
| 9 | g.92719465G= | CA1864362437 | BICD2 | c.1180C= (p.Leu394=) c.1261C= (p.Leu421=) | |
| 9 | g.92719465G>T | CA5126616 | BICD2 | c.1180C>A (p.Leu394Met) c.1261C>A (p.Leu421Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719466A= | CA1864362445 | BICD2 | c.1179T= (p.Asn393=) c.1260T= (p.Asn420=) | |
| 9 | g.92719466A>C | CA374040074 | BICD2 | c.1179T>G (p.Asn393Lys) c.1260T>G (p.Asn420Lys) | |
| 9 | g.92719466A>G | CA466343244 | BICD2 | c.1179T>C (p.Asn393=) c.1260T>C (p.Asn420=) | |
| 9 | g.92719466A>T | CA5126617 | BICD2 | c.1179T>A (p.Asn393Lys) c.1260T>A (p.Asn420Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719467T>A | CA374040088 | BICD2 | c.1178A>T (p.Asn393Ile) c.1259A>T (p.Asn420Ile) | |
| 9 | g.92719467T>C | CA374040090 | BICD2 | c.1178A>G (p.Asn393Ser) c.1259A>G (p.Asn420Ser) | gnomAD v4 |
| 9 | g.92719467T>G | CA374040097 | BICD2 | c.1178A>C (p.Asn393Thr) c.1259A>C (p.Asn420Thr) | |
| 9 | g.92719467_92719469delinsTTC | CA1864362450 | BICD2 | c.1176_1178delinsGAA (p.Glu392=) c.1257_1259delinsGAA (p.Glu419=) | |
| 9 | g.92719468T>A | CA374040104 | BICD2 | c.1177A>T (p.Asn393Tyr) c.1258A>T (p.Asn420Tyr) | |
| 9 | g.92719468T>C | CA374040100 | BICD2 | c.1177A>G (p.Asn393Asp) c.1258A>G (p.Asn420Asp) | |
| 9 | g.92719468T>G | CA374040101 | BICD2 | c.1177A>C (p.Asn393His) c.1258A>C (p.Asn420His) | gnomAD v4 |
| 9 | g.92719471_92719472del | CA1864362453 | BICD2 | c.1176_1177del (p.Asn393SerfsTer24) c.1257_1258del (p.Asn420SerfsTer24) | dbSNP |
| 9 | g.92719469C>A | CA374040106 | BICD2 | c.1176G>T (p.Glu392Asp) c.1257G>T (p.Glu419Asp) | COSMIC COSMIC |
| 9 | g.92719469C>G | CA374040108 | BICD2 | c.1176G>C (p.Glu392Asp) c.1257G>C (p.Glu419Asp) | |
| 9 | g.92719469C>T | CA466343259 | BICD2 | c.1176G>A (p.Glu392=) c.1257G>A (p.Glu419=) | COSMIC COSMIC |
| 9 | g.92719470T>A | CA374040113 | BICD2 | c.1175A>T (p.Glu392Val) c.1256A>T (p.Glu419Val) | |
| 9 | g.92719470T>C | CA374040116 | BICD2 | c.1175A>G (p.Glu392Gly) c.1256A>G (p.Glu419Gly) | |
| 9 | g.92719470T>G | CA374040130 | BICD2 | c.1175A>C (p.Glu392Ala) c.1256A>C (p.Glu419Ala) | |
| 9 | g.92719471C>A | CA374040136 | BICD2 | c.1174G>T (p.Glu392Ter) c.1255G>T (p.Glu419Ter) | |
| 9 | g.92719471C= | CA1864362458 | BICD2 | c.1174G= (p.Glu392=) c.1255G= (p.Glu419=) | |
| 9 | g.92719471C>G | CA374040153 | BICD2 | c.1174G>C (p.Glu392Gln) c.1255G>C (p.Glu419Gln) | gnomAD v4 |
| 9 | g.92719471C>T | CA5126618 | BICD2 | c.1174G>A (p.Glu392Lys) c.1255G>A (p.Glu419Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719472T>A | CA466343265 | BICD2 | c.1173A>T (p.Thr391=) c.1254A>T (p.Thr418=) | |
| 9 | g.92719472T>C | CA466343266 | BICD2 | c.1173A>G (p.Thr391=) c.1254A>G (p.Thr418=) | gnomAD v4 |
| 9 | g.92719472T>G | CA466343267 | BICD2 | c.1173A>C (p.Thr391=) c.1254A>C (p.Thr418=) | |
| 9 | g.92719473G>A | CA374040156 | BICD2 | c.1172C>T (p.Thr391Ile) c.1253C>T (p.Thr418Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719473G>C | CA374040160 | BICD2 | c.1172C>G (p.Thr391Arg) c.1253C>G (p.Thr418Arg) | |
| 9 | g.92719473G= | CA1864362463 | BICD2 | c.1172C= (p.Thr391=) c.1253C= (p.Thr418=) | |
| 9 | g.92719473G>T | CA374040164 | BICD2 | c.1172C>A (p.Thr391Lys) c.1253C>A (p.Thr418Lys) | |
| 9 | g.92719474T>A | CA374040167 | BICD2 | c.1171A>T (p.Thr391Ser) c.1252A>T (p.Thr418Ser) | |
| 9 | g.92719474T>C | CA374040177 | BICD2 | c.1171A>G (p.Thr391Ala) c.1252A>G (p.Thr418Ala) | |
| 9 | g.92719474T>G | CA374040180 | BICD2 | c.1171A>C (p.Thr391Pro) c.1252A>C (p.Thr418Pro) | |
| 9 | g.92719475G>A | CA466343283 | BICD2 | c.1170C>T (p.Leu390=) c.1251C>T (p.Leu417=) | dbSNP |
| 9 | g.92719475G>C | CA466343286 | BICD2 | c.1170C>G (p.Leu390=) c.1251C>G (p.Leu417=) | gnomAD v4 |
| 9 | g.92719475G>T | CA466343287 | BICD2 | c.1170C>A (p.Leu390=) c.1251C>A (p.Leu417=) | |
| 9 | g.92719476A>C | CA374040183 | BICD2 | c.1169T>G (p.Leu390Arg) c.1250T>G (p.Leu417Arg) | |
| 9 | g.92719476A>G | CA374040184 | BICD2 | c.1169T>C (p.Leu390Pro) c.1250T>C (p.Leu417Pro) | gnomAD v4 |
| 9 | g.92719476A>T | CA374040186 | BICD2 | c.1169T>A (p.Leu390His) c.1250T>A (p.Leu417His) | |
| 9 | g.92719477G>A | CA196341092 | BICD2 | c.1168C>T (p.Leu390Phe) c.1249C>T (p.Leu417Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719477G>C | CA374040191 | BICD2 | c.1168C>G (p.Leu390Val) c.1249C>G (p.Leu417Val) | |
| 9 | g.92719477G= | CA1864362471 | BICD2 | c.1168C= (p.Leu390=) c.1249C= (p.Leu417=) | |
| 9 | g.92719477G>T | CA5126619 | BICD2 | c.1168C>A (p.Leu390Ile) c.1249C>A (p.Leu417Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719478G>A | CA466343292 | BICD2 | c.1167C>T (p.Arg389=) c.1248C>T (p.Arg416=) | dbSNP gnomAD v2 |
| 9 | g.92719478G>C | CA466343293 | BICD2 | c.1167C>G (p.Arg389=) c.1248C>G (p.Arg416=) | |
| 9 | g.92719478G= | CA1864362482 | BICD2 | c.1167C= (p.Arg389=) c.1248C= (p.Arg416=) | |
| 9 | g.92719478G>T | CA196341100 | BICD2 | c.1167C>A (p.Arg389=) c.1248C>A (p.Arg416=) | dbSNP |
| 9 | g.92719479C>A | CA374040197 | BICD2 | c.1166G>T (p.Arg389Leu) c.1247G>T (p.Arg416Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719479C= | CA1864362488 | BICD2 | c.1166G= (p.Arg389=) c.1247G= (p.Arg416=) | |
| 9 | g.92719479C>G | CA374040200 | BICD2 | c.1166G>C (p.Arg389Pro) c.1247G>C (p.Arg416Pro) | |
| 9 | g.92719479C>T | CA5126620 | BICD2 | c.1166G>A (p.Arg389His) c.1247G>A (p.Arg416His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719480G>A | CA5126621 | BICD2 | c.1165C>T (p.Arg389Cys) c.1246C>T (p.Arg416Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.92719480G>C | CA374040201 | BICD2 | c.1165C>G (p.Arg389Gly) c.1246C>G (p.Arg416Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719480G= | CA1864362495 | BICD2 | c.1165C= (p.Arg389=) c.1246C= (p.Arg416=) | |
| 9 | g.92719480G>T | CA374040202 | BICD2 | c.1165C>A (p.Arg389Ser) c.1246C>A (p.Arg416Ser) | |
| 9 | g.92719481G>A | CA466343308 | BICD2 | c.1164C>T (p.Thr388=) c.1245C>T (p.Thr415=) | |
| 9 | g.92719481G>C | CA466343307 | BICD2 | c.1164C>G (p.Thr388=) c.1245C>G (p.Thr415=) | |
| 9 | g.92719481G>T | CA466343304 | BICD2 | c.1164C>A (p.Thr388=) c.1245C>A (p.Thr415=) | |
| 9 | g.92719482G>A | CA374040203 | BICD2 | c.1163C>T (p.Thr388Ile) c.1244C>T (p.Thr415Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719482G>C | CA374040204 | BICD2 | c.1163C>G (p.Thr388Ser) c.1244C>G (p.Thr415Ser) | |
| 9 | g.92719482G= | CA1864362498 | BICD2 | c.1163C= (p.Thr388=) c.1244C= (p.Thr415=) | |
| 9 | g.92719482G>T | CA374040208 | BICD2 | c.1163C>A (p.Thr388Asn) c.1244C>A (p.Thr415Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719483T>A | CA374040214 | BICD2 | c.1162A>T (p.Thr388Ser) c.1243A>T (p.Thr415Ser) | |
| 9 | g.92719483T>C | CA374040219 | BICD2 | c.1162A>G (p.Thr388Ala) c.1243A>G (p.Thr415Ala) | |
| 9 | g.92719483T>G | CA374040221 | BICD2 | c.1162A>C (p.Thr388Pro) c.1243A>C (p.Thr415Pro) | dbSNP |
| 9 | g.92719483T= | CA1864362501 | BICD2 | c.1162A= (p.Thr388=) c.1243A= (p.Thr415=) | |
| 9 | g.92719484C>A | CA466343312 | BICD2 | c.1161G>T (p.Val387=) c.1242G>T (p.Val414=) | gnomAD v4 |
| 9 | g.92719484C>G | CA466343314 | BICD2 | c.1161G>C (p.Val387=) c.1242G>C (p.Val414=) | |
| 9 | g.92719484C>T | CA466343315 | BICD2 | c.1161G>A (p.Val387=) c.1242G>A (p.Val414=) | gnomAD v4 |
| 9 | g.92719485A>C | CA374040227 | BICD2 | c.1160T>G (p.Val387Gly) c.1241T>G (p.Val414Gly) | |
| 9 | g.92719485A>G | CA374040228 | BICD2 | c.1160T>C (p.Val387Ala) c.1241T>C (p.Val414Ala) | gnomAD v4 |
| 9 | g.92719485A>T | CA374040229 | BICD2 | c.1160T>A (p.Val387Glu) c.1241T>A (p.Val414Glu) | |
| 9 | g.92719486C>A | CA374040232 | BICD2 | c.1159G>T (p.Val387Leu) c.1240G>T (p.Val414Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719486C= | CA1864362504 | BICD2 | c.1159G= (p.Val387=) c.1240G= (p.Val414=) | |
| 9 | g.92719486C>G | CA374040230 | BICD2 | c.1159G>C (p.Val387Leu) c.1240G>C (p.Val414Leu) | |
| 9 | g.92719486C>T | CA374040231 | BICD2 | c.1159G>A (p.Val387Met) c.1240G>A (p.Val414Met) | |
| 9 | g.92719486_92719489delinsCCTT | CA1864362506 | BICD2 | c.1156_1159delinsAAGG (p.Lys386=) c.1237_1240delinsAAGG (p.Lys413=) | |
| 9 | g.92719487C>A | CA374040233 | BICD2 | c.1158G>T (p.Lys386Asn) c.1239G>T (p.Lys413Asn) | |
| 9 | g.92719487C= | CA1864362510 | BICD2 | c.1158G= (p.Lys386=) c.1239G= (p.Lys413=) | |
| 9 | g.92719487C>G | CA374040234 | BICD2 | c.1158G>C (p.Lys386Asn) c.1239G>C (p.Lys413Asn) | |
| 9 | g.92719487C>T | CA5126622 | BICD2 | c.1158G>A (p.Lys386=) c.1239G>A (p.Lys413=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719489_92719491del | CA1864362509 | BICD2 | c.1156_1158del (p.Lys386del) c.1237_1239del (p.Lys413del) | dbSNP gnomAD v4 |
| 9 | g.92719488T>A | CA374040238 | BICD2 | c.1157A>T (p.Lys386Met) c.1238A>T (p.Lys413Met) | |
| 9 | g.92719488T>C | CA374040242 | BICD2 | c.1157A>G (p.Lys386Arg) c.1238A>G (p.Lys413Arg) | |
| 9 | g.92719488T>G | CA374040244 | BICD2 | c.1157A>C (p.Lys386Thr) c.1238A>C (p.Lys413Thr) | |
| 9 | g.92719489T>A | CA374040247 | BICD2 | c.1156A>T (p.Lys386Ter) c.1237A>T (p.Lys413Ter) | |
| 9 | g.92719489T>C | CA374040252 | BICD2 | c.1156A>G (p.Lys386Glu) c.1237A>G (p.Lys413Glu) | |
| 9 | g.92719489T>G | CA374040258 | BICD2 | c.1156A>C (p.Lys386Gln) c.1237A>C (p.Lys413Gln) |