| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.38351524A>C | CA391934504 | SPRED1 | c.1195A>C (p.Lys399Gln) c.1231A>C (p.Lys411Gln) c.973A>C (p.Lys325Gln) c.1132A>C (p.Lys378Gln) | |
| 15 | g.38351524A>G | CA391934506 | SPRED1 | c.1195A>G (p.Lys399Glu) c.1231A>G (p.Lys411Glu) c.973A>G (p.Lys325Glu) c.1132A>G (p.Lys378Glu) | |
| 15 | g.38351524A>T | CA391934505 | SPRED1 | c.1195A>T (p.Lys399Ter) c.1231A>T (p.Lys411Ter) c.973A>T (p.Lys325Ter) c.1132A>T (p.Lys378Ter) | |
| 15 | g.38351525dup | CA658658279 | SPRED1 | c.1196dup (p.Phe400ValfsTer?) c.1232dup (p.Phe412ValfsTer?) c.974dup (p.Phe326ValfsTer?) c.1133dup (p.Phe379ValfsTer?) | ClinVar dbSNP |
| 15 | g.38351525A>C | CA391934509 | SPRED1 | c.1196A>C (p.Lys399Thr) c.1232A>C (p.Lys411Thr) c.974A>C (p.Lys325Thr) c.1133A>C (p.Lys378Thr) | |
| 15 | g.38351525A>G | CA391934510 | SPRED1 | c.1196A>G (p.Lys399Arg) c.1232A>G (p.Lys411Arg) c.974A>G (p.Lys325Arg) c.1133A>G (p.Lys378Arg) | |
| 15 | g.38351525A>T | CA391934512 | SPRED1 | c.1196A>T (p.Lys399Met) c.1232A>T (p.Lys411Met) c.974A>T (p.Lys325Met) c.1133A>T (p.Lys378Met) | |
| 15 | g.38351526G>A | CA490012533 | SPRED1 | c.1197G>A (p.Lys399=) c.1233G>A (p.Lys411=) c.975G>A (p.Lys325=) c.1134G>A (p.Lys378=) | |
| 15 | g.38351526G>C | CA391934514 | SPRED1 | c.1197G>C (p.Lys399Asn) c.1233G>C (p.Lys411Asn) c.975G>C (p.Lys325Asn) c.1134G>C (p.Lys378Asn) | |
| 15 | g.38351526G>T | CA391934516 | SPRED1 | c.1197G>T (p.Lys399Asn) c.1233G>T (p.Lys411Asn) c.975G>T (p.Lys325Asn) c.1134G>T (p.Lys378Asn) | |
| 15 | g.38351527T>A | CA391934518 | SPRED1 | c.1198T>A (p.Phe400Ile) c.1234T>A (p.Phe412Ile) c.976T>A (p.Phe326Ile) c.1135T>A (p.Phe379Ile) | |
| 15 | g.38351527T>C | CA391934519 | SPRED1 | c.1198T>C (p.Phe400Leu) c.1234T>C (p.Phe412Leu) c.976T>C (p.Phe326Leu) c.1135T>C (p.Phe379Leu) | |
| 15 | g.38351527T>G | CA391934521 | SPRED1 | c.1198T>G (p.Phe400Val) c.1234T>G (p.Phe412Val) c.976T>G (p.Phe326Val) c.1135T>G (p.Phe379Val) | |
| 15 | g.38351528T>A | CA391934523 | SPRED1 | c.1199T>A (p.Phe400Tyr) c.1235T>A (p.Phe412Tyr) c.977T>A (p.Phe326Tyr) c.1136T>A (p.Phe379Tyr) | ClinVar |
| 15 | g.38351528T>C | CA391934525 | SPRED1 | c.1199T>C (p.Phe400Ser) c.1235T>C (p.Phe412Ser) c.977T>C (p.Phe326Ser) c.1136T>C (p.Phe379Ser) | gnomAD v4 |
| 15 | g.38351528T>G | CA391934527 | SPRED1 | c.1199T>G (p.Phe400Cys) c.1235T>G (p.Phe412Cys) c.977T>G (p.Phe326Cys) c.1136T>G (p.Phe379Cys) | |
| 15 | g.38351529C>A | CA391934528 | SPRED1 | c.1200C>A (p.Phe400Leu) c.1236C>A (p.Phe412Leu) c.978C>A (p.Phe326Leu) c.1137C>A (p.Phe379Leu) | |
| 15 | g.38351529C>G | CA391934533 | SPRED1 | c.1200C>G (p.Phe400Leu) c.1236C>G (p.Phe412Leu) c.978C>G (p.Phe326Leu) c.1137C>G (p.Phe379Leu) | gnomAD v4 |
| 15 | g.38351529C>T | CA490012537 | SPRED1 | c.1200C>T (p.Phe400=) c.1236C>T (p.Phe412=) c.978C>T (p.Phe326=) c.1137C>T (p.Phe379=) | ClinVar dbSNP |
| 15 | g.38351530T>A | CA391934536 | SPRED1 | c.1201T>A (p.Cys401Ser) c.1237T>A (p.Cys413Ser) c.979T>A (p.Cys327Ser) c.1138T>A (p.Cys380Ser) | |
| 15 | g.38351530T>C | CA391934534 | SPRED1 | c.1201T>C (p.Cys401Arg) c.1237T>C (p.Cys413Arg) c.979T>C (p.Cys327Arg) c.1138T>C (p.Cys380Arg) | gnomAD v4 |
| 15 | g.38351530T>G | CA391934535 | SPRED1 | c.1201T>G (p.Cys401Gly) c.1237T>G (p.Cys413Gly) c.979T>G (p.Cys327Gly) c.1138T>G (p.Cys380Gly) | |
| 15 | g.38351533_38351536dup | CA658761259 | SPRED1 | c.1204_1207dup (p.Arg403LeufsTer30) c.1240_1243dup (p.Arg415LeufsTer30) c.982_985dup (p.Arg329LeufsTer30) c.1141_1144dup (p.Arg382LeufsTer30) | |
| 15 | g.38351531G>A | CA391934538 | SPRED1 | c.1202G>A (p.Cys401Tyr) c.1238G>A (p.Cys413Tyr) c.980G>A (p.Cys327Tyr) c.1139G>A (p.Cys380Tyr) | |
| 15 | g.38351531G>C | CA391934539 | SPRED1 | c.1202G>C (p.Cys401Ser) c.1238G>C (p.Cys413Ser) c.980G>C (p.Cys327Ser) c.1139G>C (p.Cys380Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351531G= | CA2170812751 | SPRED1 | c.1202G= (p.Cys401=) c.1238G= (p.Cys413=) c.980G= (p.Cys327=) c.1139G= (p.Cys380=) | |
| 15 | g.38351531G>T | CA7470243 | SPRED1 | c.1202G>T (p.Cys401Phe) c.1238G>T (p.Cys413Phe) c.980G>T (p.Cys327Phe) c.1139G>T (p.Cys380Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351532C>A | CA391934541 | SPRED1 | c.1203C>A (p.Cys401Ter) c.1239C>A (p.Cys413Ter) c.981C>A (p.Cys327Ter) c.1140C>A (p.Cys380Ter) | |
| 15 | g.38351532C>G | CA391934543 | SPRED1 | c.1203C>G (p.Cys401Trp) c.1239C>G (p.Cys413Trp) c.981C>G (p.Cys327Trp) c.1140C>G (p.Cys380Trp) | |
| 15 | g.38351532C>T | CA490012540 | SPRED1 | c.1203C>T (p.Cys401=) c.1239C>T (p.Cys413=) c.981C>T (p.Cys327=) c.1140C>T (p.Cys380=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.38351533T>A | CA391934544 | SPRED1 | c.1204T>A (p.Leu402Met) c.1240T>A (p.Leu414Met) c.982T>A (p.Leu328Met) c.1141T>A (p.Leu381Met) | |
| 15 | g.38351533T>C | CA7470244 | SPRED1 | c.1204T>C (p.Leu402=) c.1240T>C (p.Leu414=) c.982T>C (p.Leu328=) c.1141T>C (p.Leu381=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351533T>G | CA391934546 | SPRED1 | c.1204T>G (p.Leu402Val) c.1240T>G (p.Leu414Val) c.982T>G (p.Leu328Val) c.1141T>G (p.Leu381Val) | |
| 15 | g.38351533T= | CA2170812752 | SPRED1 | c.1204T= (p.Leu402=) c.1240T= (p.Leu414=) c.982T= (p.Leu328=) c.1141T= (p.Leu381=) | |
| 15 | g.38351534T>A | CA391934548 | SPRED1 | c.1205T>A (p.Leu402Ter) c.1241T>A (p.Leu414Ter) c.983T>A (p.Leu328Ter) c.1142T>A (p.Leu381Ter) | |
| 15 | g.38351534T>C | CA391934550 | SPRED1 | c.1205T>C (p.Leu402Ser) c.1241T>C (p.Leu414Ser) c.983T>C (p.Leu328Ser) c.1142T>C (p.Leu381Ser) | |
| 15 | g.38351534T>G | CA391934553 | SPRED1 | c.1205T>G (p.Leu402Trp) c.1241T>G (p.Leu414Trp) c.983T>G (p.Leu328Trp) c.1142T>G (p.Leu381Trp) | |
| 15 | g.38351535G>A | CA490012542 | SPRED1 | c.1206G>A (p.Leu402=) c.1242G>A (p.Leu414=) c.984G>A (p.Leu328=) c.1143G>A (p.Leu381=) | ClinVar |
| 15 | g.38351535G>C | CA391934555 | SPRED1 | c.1206G>C (p.Leu402Phe) c.1242G>C (p.Leu414Phe) c.984G>C (p.Leu328Phe) c.1143G>C (p.Leu381Phe) | |
| 15 | g.38351535G>T | CA391934556 | SPRED1 | c.1206G>T (p.Leu402Phe) c.1242G>T (p.Leu414Phe) c.984G>T (p.Leu328Phe) c.1143G>T (p.Leu381Phe) | |
| 15 | g.38351535_38351546del | CA2501080789 | SPRED1 | c.1206_1217del (p.Leu402_Ala406delinsPhe) c.1242_1253del (p.Leu414_Ala418delinsPhe) c.984_995del (p.Leu328_Ala332delinsPhe) c.1143_1154del (p.Leu381_Ala385delinsPhe) | |
| 15 | g.38351536C>A | CA490012545 | SPRED1 | c.1207C>A (p.Arg403=) c.1243C>A (p.Arg415=) c.985C>A (p.Arg329=) c.1144C>A (p.Arg382=) | |
| 15 | g.38351536C= | CA2170812753 | SPRED1 | c.1207C= (p.Arg403=) c.1243C= (p.Arg415=) c.985C= (p.Arg329=) c.1144C= (p.Arg382=) | |
| 15 | g.38351536C>G | CA391934558 | SPRED1 | c.1207C>G (p.Arg403Gly) c.1243C>G (p.Arg415Gly) c.985C>G (p.Arg329Gly) c.1144C>G (p.Arg382Gly) | |
| 15 | g.38351536C>T | CA391934560 | SPRED1 | c.1207C>T (p.Arg403Ter) c.1243C>T (p.Arg415Ter) c.985C>T (p.Arg329Ter) c.1144C>T (p.Arg382Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351537G>A | CA7470245 | SPRED1 | c.1208G>A (p.Arg403Gln) c.1244G>A (p.Arg415Gln) c.986G>A (p.Arg329Gln) c.1145G>A (p.Arg382Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351537G>C | CA391934563 | SPRED1 | c.1208G>C (p.Arg403Pro) c.1244G>C (p.Arg415Pro) c.986G>C (p.Arg329Pro) c.1145G>C (p.Arg382Pro) | |
| 15 | g.38351537G= | CA2170812754 | SPRED1 | c.1208G= (p.Arg403=) c.1244G= (p.Arg415=) c.986G= (p.Arg329=) c.1145G= (p.Arg382=) | |
| 15 | g.38351537G>T | CA391934561 | SPRED1 | c.1208G>T (p.Arg403Leu) c.1244G>T (p.Arg415Leu) c.986G>T (p.Arg329Leu) c.1145G>T (p.Arg382Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351538A>C | CA490012553 | SPRED1 | c.1209A>C (p.Arg403=) c.1245A>C (p.Arg415=) c.987A>C (p.Arg329=) c.1146A>C (p.Arg382=) |