| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.232534256C>A | CA351005539 | CHRND | c.1285C>A (p.Gln429Lys) c.*467C>A (n.*467C>A) c.*926C>A (n.*926C>A) c.1240C>A (p.Gln414Lys) c.703C>A (p.Gln235Lys) c.982C>A (p.Gln328Lys) c.-4294966266C>A c.-4294965987C>A c.904C>A (p.Gln302Lys) | |
| 2 | g.232534256C>G | CA351005541 | CHRND | c.1285C>G (p.Gln429Glu) c.*467C>G (n.*467C>G) c.*926C>G (n.*926C>G) c.1240C>G (p.Gln414Glu) c.703C>G (p.Gln235Glu) c.982C>G (p.Gln328Glu) c.-4294966266C>G c.-4294965987C>G c.904C>G (p.Gln302Glu) | |
| 2 | g.232534256C>T | CA351005543 | CHRND | c.1285C>T (p.Gln429Ter) c.*467C>T (n.*467C>T) c.*926C>T (n.*926C>T) c.1240C>T (p.Gln414Ter) c.703C>T (p.Gln235Ter) c.982C>T (p.Gln328Ter) c.-4294966266C>T c.-4294965987C>T c.904C>T (p.Gln302Ter) | |
| 2 | g.232534257A= | CA1335314083 | CHRND | c.1286A= (p.Gln429=) c.*468A= (n.*468A=) c.*927A= (n.*927A=) c.1241A= (p.Gln414=) c.704A= (p.Gln235=) c.983A= (p.Gln328=) c.-4294966265A= c.-4294965986A= c.905A= (p.Gln302=) | |
| 2 | g.232534257A>C | CA351005545 | CHRND | c.1286A>C (p.Gln429Pro) c.*468A>C (n.*468A>C) c.*927A>C (n.*927A>C) c.1241A>C (p.Gln414Pro) c.704A>C (p.Gln235Pro) c.983A>C (p.Gln328Pro) c.-4294966265A>C c.-4294965986A>C c.905A>C (p.Gln302Pro) | |
| 2 | g.232534257A>G | CA351005547 | CHRND | c.1286A>G (p.Gln429Arg) c.*468A>G (n.*468A>G) c.*927A>G (n.*927A>G) c.1241A>G (p.Gln414Arg) c.704A>G (p.Gln235Arg) c.983A>G (p.Gln328Arg) c.-4294966265A>G c.-4294965986A>G c.905A>G (p.Gln302Arg) | dbSNP |
| 2 | g.232534257A>T | CA351005548 | CHRND | c.1286A>T (p.Gln429Leu) c.*468A>T (n.*468A>T) c.*927A>T (n.*927A>T) c.1241A>T (p.Gln414Leu) c.704A>T (p.Gln235Leu) c.983A>T (p.Gln328Leu) c.-4294966265A>T c.-4294965986A>T c.905A>T (p.Gln302Leu) | |
| 2 | g.232534258G>A | CA431952412 | CHRND | c.1287G>A (p.Gln429=) c.*469G>A (n.*469G>A) c.*928G>A (n.*928G>A) c.1242G>A (p.Gln414=) c.705G>A (p.Gln235=) c.984G>A (p.Gln328=) c.-4294966264G>A c.-4294965985G>A c.906G>A (p.Gln302=) | |
| 2 | g.232534258G>C | CA351005550 | CHRND | c.1287G>C (p.Gln429His) c.*469G>C (n.*469G>C) c.*928G>C (n.*928G>C) c.1242G>C (p.Gln414His) c.705G>C (p.Gln235His) c.984G>C (p.Gln328His) c.-4294966264G>C c.-4294965985G>C c.906G>C (p.Gln302His) | |
| 2 | g.232534258G>T | CA351005549 | CHRND | c.1287G>T (p.Gln429His) c.*469G>T (n.*469G>T) c.*928G>T (n.*928G>T) c.1242G>T (p.Gln414His) c.705G>T (p.Gln235His) c.984G>T (p.Gln328His) c.-4294966264G>T c.-4294965985G>T c.906G>T (p.Gln302His) | |
| 2 | g.232534259G>A | CA351005553 | CHRND | c.1288G>A (p.Glu430Lys) c.*470G>A (n.*470G>A) c.*929G>A (n.*929G>A) c.1243G>A (p.Glu415Lys) c.706G>A (p.Glu236Lys) c.985G>A (p.Glu329Lys) c.-4294966263G>A c.-4294965984G>A c.907G>A (p.Glu303Lys) | COSMIC |
| 2 | g.232534259G>C | CA351005556 | CHRND | c.1288G>C (p.Glu430Gln) c.*470G>C (n.*470G>C) c.*929G>C (n.*929G>C) c.1243G>C (p.Glu415Gln) c.706G>C (p.Glu236Gln) c.985G>C (p.Glu329Gln) c.-4294966263G>C c.-4294965984G>C c.907G>C (p.Glu303Gln) | |
| 2 | g.232534259G>T | CA351005555 | CHRND | c.1288G>T (p.Glu430Ter) c.*470G>T (n.*470G>T) c.*929G>T (n.*929G>T) c.1243G>T (p.Glu415Ter) c.706G>T (p.Glu236Ter) c.985G>T (p.Glu329Ter) c.-4294966263G>T c.-4294965984G>T c.907G>T (p.Glu303Ter) | gnomAD v4 |
| 2 | g.232534260A>C | CA351005557 | CHRND | c.1289A>C (p.Glu430Ala) c.*471A>C (n.*471A>C) c.*930A>C (n.*930A>C) c.1244A>C (p.Glu415Ala) c.707A>C (p.Glu236Ala) c.986A>C (p.Glu329Ala) c.-4294966262A>C c.-4294965983A>C c.908A>C (p.Glu303Ala) | |
| 2 | g.232534260A>G | CA351005559 | CHRND | c.1289A>G (p.Glu430Gly) c.*471A>G (n.*471A>G) c.*930A>G (n.*930A>G) c.1244A>G (p.Glu415Gly) c.707A>G (p.Glu236Gly) c.986A>G (p.Glu329Gly) c.-4294966262A>G c.-4294965983A>G c.908A>G (p.Glu303Gly) | |
| 2 | g.232534260A>T | CA351005560 | CHRND | c.1289A>T (p.Glu430Val) c.*471A>T (n.*471A>T) c.*930A>T (n.*930A>T) c.1244A>T (p.Glu415Val) c.707A>T (p.Glu236Val) c.986A>T (p.Glu329Val) c.-4294966262A>T c.-4294965983A>T c.908A>T (p.Glu303Val) | |
| 2 | g.232534261A= | CA1335314084 | CHRND | c.1290A= (p.Glu430=) c.*472A= (n.*472A=) c.*931A= (n.*931A=) c.1245A= (p.Glu415=) c.708A= (p.Glu236=) c.987A= (p.Glu329=) c.-4294966261A= c.-4294965982A= c.909A= (p.Glu303=) | |
| 2 | g.232534261A>C | CA351005562 | CHRND | c.1290A>C (p.Glu430Asp) c.*472A>C (n.*472A>C) c.*931A>C (n.*931A>C) c.1245A>C (p.Glu415Asp) c.708A>C (p.Glu236Asp) c.987A>C (p.Glu329Asp) c.-4294966261A>C c.-4294965982A>C c.909A>C (p.Glu303Asp) | |
| 2 | g.232534261A>G | CA431952413 | CHRND | c.1290A>G (p.Glu430=) c.*472A>G (n.*472A>G) c.*931A>G (n.*931A>G) c.1245A>G (p.Glu415=) c.708A>G (p.Glu236=) c.987A>G (p.Glu329=) c.-4294966261A>G c.-4294965982A>G c.909A>G (p.Glu303=) | gnomAD v4 |
| 2 | g.232534261A>T | CA351005564 | CHRND | c.1290A>T (p.Glu430Asp) c.*472A>T (n.*472A>T) c.*931A>T (n.*931A>T) c.1245A>T (p.Glu415Asp) c.708A>T (p.Glu236Asp) c.987A>T (p.Glu329Asp) c.-4294966261A>T c.-4294965982A>T c.909A>T (p.Glu303Asp) | ClinVar dbSNP |
| 2 | g.232534262C>A | CA351005566 | CHRND | c.1291C>A (p.Leu431Ile) c.*473C>A (n.*473C>A) c.*932C>A (n.*932C>A) c.1246C>A (p.Leu416Ile) c.709C>A (p.Leu237Ile) c.988C>A (p.Leu330Ile) c.-4294966260C>A c.-4294965981C>A c.910C>A (p.Leu304Ile) | |
| 2 | g.232534262C>G | CA351005568 | CHRND | c.1291C>G (p.Leu431Val) c.*473C>G (n.*473C>G) c.*932C>G (n.*932C>G) c.1246C>G (p.Leu416Val) c.709C>G (p.Leu237Val) c.988C>G (p.Leu330Val) c.-4294966260C>G c.-4294965981C>G c.910C>G (p.Leu304Val) | |
| 2 | g.232534262C>T | CA351005569 | CHRND | c.1291C>T (p.Leu431Phe) c.*473C>T (n.*473C>T) c.*932C>T (n.*932C>T) c.1246C>T (p.Leu416Phe) c.709C>T (p.Leu237Phe) c.988C>T (p.Leu330Phe) c.-4294966260C>T c.-4294965981C>T c.910C>T (p.Leu304Phe) | |
| 2 | g.232534263T>A | CA66957683 | CHRND | c.1292T>A (p.Leu431His) c.*474T>A (n.*474T>A) c.*933T>A (n.*933T>A) c.1247T>A (p.Leu416His) c.710T>A (p.Leu237His) c.989T>A (p.Leu330His) c.-4294966259T>A c.-4294965980T>A c.911T>A (p.Leu304His) | dbSNP |
| 2 | g.232534263T>C | CA351005573 | CHRND | c.1292T>C (p.Leu431Pro) c.*474T>C (n.*474T>C) c.*933T>C (n.*933T>C) c.1247T>C (p.Leu416Pro) c.710T>C (p.Leu237Pro) c.989T>C (p.Leu330Pro) c.-4294966259T>C c.-4294965980T>C c.911T>C (p.Leu304Pro) | |
| 2 | g.232534263T>G | CA351005574 | CHRND | c.1292T>G (p.Leu431Arg) c.*474T>G (n.*474T>G) c.*933T>G (n.*933T>G) c.1247T>G (p.Leu416Arg) c.710T>G (p.Leu237Arg) c.989T>G (p.Leu330Arg) c.-4294966259T>G c.-4294965980T>G c.911T>G (p.Leu304Arg) | |
| 2 | g.232534263T= | CA1335314085 | CHRND | c.1292T= (p.Leu431=) c.*474T= (n.*474T=) c.*933T= (n.*933T=) c.1247T= (p.Leu416=) c.710T= (p.Leu237=) c.989T= (p.Leu330=) c.-4294966259T= c.-4294965980T= c.911T= (p.Leu304=) | |
| 2 | g.232534264C>A | CA431952419 | CHRND | c.1293C>A (p.Leu431=) c.*475C>A (n.*475C>A) c.*934C>A (n.*934C>A) c.1248C>A (p.Leu416=) c.711C>A (p.Leu237=) c.990C>A (p.Leu330=) c.-4294966258C>A c.-4294965979C>A c.912C>A (p.Leu304=) | |
| 2 | g.232534264C>G | CA431952418 | CHRND | c.1293C>G (p.Leu431=) c.*475C>G (n.*475C>G) c.*934C>G (n.*934C>G) c.1248C>G (p.Leu416=) c.711C>G (p.Leu237=) c.990C>G (p.Leu330=) c.-4294966258C>G c.-4294965979C>G c.912C>G (p.Leu304=) | |
| 2 | g.232534264C>T | CA431952417 | CHRND | c.1293C>T (p.Leu431=) c.*475C>T (n.*475C>T) c.*934C>T (n.*934C>T) c.1248C>T (p.Leu416=) c.711C>T (p.Leu237=) c.990C>T (p.Leu330=) c.-4294966258C>T c.-4294965979C>T c.912C>T (p.Leu304=) | gnomAD v4 |
| 2 | g.232534265T>A | CA351005580 | CHRND | c.1294T>A (p.Phe432Ile) c.*476T>A (n.*476T>A) c.*935T>A (n.*935T>A) c.1249T>A (p.Phe417Ile) c.712T>A (p.Phe238Ile) c.991T>A (p.Phe331Ile) c.-4294966257T>A c.-4294965978T>A c.913T>A (p.Phe305Ile) | |
| 2 | g.232534265T>C | CA351005577 | CHRND | c.1294T>C (p.Phe432Leu) c.*476T>C (n.*476T>C) c.*935T>C (n.*935T>C) c.1249T>C (p.Phe417Leu) c.712T>C (p.Phe238Leu) c.991T>C (p.Phe331Leu) c.-4294966257T>C c.-4294965978T>C c.913T>C (p.Phe305Leu) | |
| 2 | g.232534265T>G | CA351005579 | CHRND | c.1294T>G (p.Phe432Val) c.*476T>G (n.*476T>G) c.*935T>G (n.*935T>G) c.1249T>G (p.Phe417Val) c.712T>G (p.Phe238Val) c.991T>G (p.Phe331Val) c.-4294966257T>G c.-4294965978T>G c.913T>G (p.Phe305Val) | |
| 2 | g.232534266T>A | CA351005582 | CHRND | c.1295T>A (p.Phe432Tyr) c.*477T>A (n.*477T>A) c.*936T>A (n.*936T>A) c.1250T>A (p.Phe417Tyr) c.713T>A (p.Phe238Tyr) c.992T>A (p.Phe331Tyr) c.-4294966256T>A c.-4294965977T>A c.914T>A (p.Phe305Tyr) | |
| 2 | g.232534266T>C | CA351005584 | CHRND | c.1295T>C (p.Phe432Ser) c.*477T>C (n.*477T>C) c.*936T>C (n.*936T>C) c.1250T>C (p.Phe417Ser) c.713T>C (p.Phe238Ser) c.992T>C (p.Phe331Ser) c.-4294966256T>C c.-4294965977T>C c.914T>C (p.Phe305Ser) | |
| 2 | g.232534266T>G | CA2168319 | CHRND | c.1295T>G (p.Phe432Cys) c.*477T>G (n.*477T>G) c.*936T>G (n.*936T>G) c.1250T>G (p.Phe417Cys) c.713T>G (p.Phe238Cys) c.992T>G (p.Phe331Cys) c.-4294966256T>G c.-4294965977T>G c.914T>G (p.Phe305Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.232534266T= | CA1335314086 | CHRND | c.1295T= (p.Phe432=) c.*477T= (n.*477T=) c.*936T= (n.*936T=) c.1250T= (p.Phe417=) c.713T= (p.Phe238=) c.992T= (p.Phe331=) c.-4294966256T= c.-4294965977T= c.914T= (p.Phe305=) | |
| 2 | g.232534267C>A | CA351005586 | CHRND | c.1296C>A (p.Phe432Leu) c.*478C>A (n.*478C>A) c.*937C>A (n.*937C>A) c.1251C>A (p.Phe417Leu) c.714C>A (p.Phe238Leu) c.993C>A (p.Phe331Leu) c.-4294966255C>A c.-4294965976C>A c.915C>A (p.Phe305Leu) | |
| 2 | g.232534267C>G | CA351005588 | CHRND | c.1296C>G (p.Phe432Leu) c.*478C>G (n.*478C>G) c.*937C>G (n.*937C>G) c.1251C>G (p.Phe417Leu) c.714C>G (p.Phe238Leu) c.993C>G (p.Phe331Leu) c.-4294966255C>G c.-4294965976C>G c.915C>G (p.Phe305Leu) | |
| 2 | g.232534267C>T | CA431952421 | CHRND | c.1296C>T (p.Phe432=) c.*478C>T (n.*478C>T) c.*937C>T (n.*937C>T) c.1251C>T (p.Phe417=) c.714C>T (p.Phe238=) c.993C>T (p.Phe331=) c.-4294966255C>T c.-4294965976C>T c.915C>T (p.Phe305=) | |
| 2 | g.232534268A>C | CA351005590 | CHRND | c.1297A>C (p.Asn433His) c.*479A>C (n.*479A>C) c.*938A>C (n.*938A>C) c.1252A>C (p.Asn418His) c.715A>C (p.Asn239His) c.994A>C (p.Asn332His) c.-4294966254A>C c.-4294965975A>C c.916A>C (p.Asn306His) | |
| 2 | g.232534268A>G | CA351005592 | CHRND | c.1297A>G (p.Asn433Asp) c.*479A>G (n.*479A>G) c.*938A>G (n.*938A>G) c.1252A>G (p.Asn418Asp) c.715A>G (p.Asn239Asp) c.994A>G (p.Asn332Asp) c.-4294966254A>G c.-4294965975A>G c.916A>G (p.Asn306Asp) | |
| 2 | g.232534268A>T | CA351005594 | CHRND | c.1297A>T (p.Asn433Tyr) c.*479A>T (n.*479A>T) c.*938A>T (n.*938A>T) c.1252A>T (p.Asn418Tyr) c.715A>T (p.Asn239Tyr) c.994A>T (p.Asn332Tyr) c.-4294966254A>T c.-4294965975A>T c.916A>T (p.Asn306Tyr) | |
| 2 | g.232534269A= | CA1335314087 | CHRND | c.1298A= (p.Asn433=) c.*480A= (n.*480A=) c.*939A= (n.*939A=) c.1253A= (p.Asn418=) c.716A= (p.Asn239=) c.995A= (p.Asn332=) c.-4294966253A= c.-4294965974A= c.917A= (p.Asn306=) | |
| 2 | g.232534269A>C | CA351005596 | CHRND | c.1298A>C (p.Asn433Thr) c.*480A>C (n.*480A>C) c.*939A>C (n.*939A>C) c.1253A>C (p.Asn418Thr) c.716A>C (p.Asn239Thr) c.995A>C (p.Asn332Thr) c.-4294966253A>C c.-4294965974A>C c.917A>C (p.Asn306Thr) | |
| 2 | g.232534269A>G | CA2168320 | CHRND | c.1298A>G (p.Asn433Ser) c.*480A>G (n.*480A>G) c.*939A>G (n.*939A>G) c.1253A>G (p.Asn418Ser) c.716A>G (p.Asn239Ser) c.995A>G (p.Asn332Ser) c.-4294966253A>G c.-4294965974A>G c.917A>G (p.Asn306Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534269A>T | CA351005598 | CHRND | c.1298A>T (p.Asn433Ile) c.*480A>T (n.*480A>T) c.*939A>T (n.*939A>T) c.1253A>T (p.Asn418Ile) c.716A>T (p.Asn239Ile) c.995A>T (p.Asn332Ile) c.-4294966253A>T c.-4294965974A>T c.917A>T (p.Asn306Ile) | |
| 2 | g.232534270T>A | CA351005603 | CHRND | c.1299T>A (p.Asn433Lys) c.*481T>A (n.*481T>A) c.*940T>A (n.*940T>A) c.1254T>A (p.Asn418Lys) c.717T>A (p.Asn239Lys) c.996T>A (p.Asn332Lys) c.-4294966252T>A c.-4294965973T>A c.918T>A (p.Asn306Lys) | |
| 2 | g.232534270T>C | CA2168321 | CHRND | c.1299T>C (p.Asn433=) c.*481T>C (n.*481T>C) c.*940T>C (n.*940T>C) c.1254T>C (p.Asn418=) c.717T>C (p.Asn239=) c.996T>C (p.Asn332=) c.-4294966252T>C c.-4294965973T>C c.918T>C (p.Asn306=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534270T>G | CA351005601 | CHRND | c.1299T>G (p.Asn433Lys) c.*481T>G (n.*481T>G) c.*940T>G (n.*940T>G) c.1254T>G (p.Asn418Lys) c.717T>G (p.Asn239Lys) c.996T>G (p.Asn332Lys) c.-4294966252T>G c.-4294965973T>G c.918T>G (p.Asn306Lys) | |
| 2 | g.232534270T= | CA1335314088 | CHRND | c.1299T= (p.Asn433=) c.*481T= (n.*481T=) c.*940T= (n.*940T=) c.1254T= (p.Asn418=) c.717T= (p.Asn239=) c.996T= (p.Asn332=) c.-4294966252T= c.-4294965973T= c.918T= (p.Asn306=) | |
| 2 | g.232534271G>A | CA351005606 | CHRND | c.1300G>A (p.Glu434Lys) c.*482G>A (n.*482G>A) c.*941G>A (n.*941G>A) c.1255G>A (p.Glu419Lys) c.718G>A (p.Glu240Lys) c.997G>A (p.Glu333Lys) c.-4294966251G>A c.-4294965972G>A c.919G>A (p.Glu307Lys) | gnomAD v4 |
| 2 | g.232534271G>C | CA351005608 | CHRND | c.1300G>C (p.Glu434Gln) c.*482G>C (n.*482G>C) c.*941G>C (n.*941G>C) c.1255G>C (p.Glu419Gln) c.718G>C (p.Glu240Gln) c.997G>C (p.Glu333Gln) c.-4294966251G>C c.-4294965972G>C c.919G>C (p.Glu307Gln) | |
| 2 | g.232534271G>T | CA351005610 | CHRND | c.1300G>T (p.Glu434Ter) c.*482G>T (n.*482G>T) c.*941G>T (n.*941G>T) c.1255G>T (p.Glu419Ter) c.718G>T (p.Glu240Ter) c.997G>T (p.Glu333Ter) c.-4294966251G>T c.-4294965972G>T c.919G>T (p.Glu307Ter) | |
| 2 | g.232534272A>C | CA351005611 | CHRND | c.1301A>C (p.Glu434Ala) c.*483A>C (n.*483A>C) c.*942A>C (n.*942A>C) c.1256A>C (p.Glu419Ala) c.719A>C (p.Glu240Ala) c.998A>C (p.Glu333Ala) c.-4294966250A>C c.-4294965971A>C c.920A>C (p.Glu307Ala) | |
| 2 | g.232534272A>G | CA351005612 | CHRND | c.1301A>G (p.Glu434Gly) c.*483A>G (n.*483A>G) c.*942A>G (n.*942A>G) c.1256A>G (p.Glu419Gly) c.719A>G (p.Glu240Gly) c.998A>G (p.Glu333Gly) c.-4294966250A>G c.-4294965971A>G c.920A>G (p.Glu307Gly) | |
| 2 | g.232534272A>T | CA351005613 | CHRND | c.1301A>T (p.Glu434Val) c.*483A>T (n.*483A>T) c.*942A>T (n.*942A>T) c.1256A>T (p.Glu419Val) c.719A>T (p.Glu240Val) c.998A>T (p.Glu333Val) c.-4294966250A>T c.-4294965971A>T c.920A>T (p.Glu307Val) | |
| 2 | g.232534273G>A | CA431952426 | CHRND | c.1302G>A (p.Glu434=) c.*484G>A (n.*484G>A) c.*943G>A (n.*943G>A) c.1257G>A (p.Glu419=) c.720G>A (p.Glu240=) c.999G>A (p.Glu333=) c.-4294966249G>A c.-4294965970G>A c.921G>A (p.Glu307=) | |
| 2 | g.232534273G>C | CA351005615 | CHRND | c.1302G>C (p.Glu434Asp) c.*484G>C (n.*484G>C) c.*943G>C (n.*943G>C) c.1257G>C (p.Glu419Asp) c.720G>C (p.Glu240Asp) c.999G>C (p.Glu333Asp) c.-4294966249G>C c.-4294965970G>C c.921G>C (p.Glu307Asp) | |
| 2 | g.232534273G>T | CA351005617 | CHRND | c.1302G>T (p.Glu434Asp) c.*484G>T (n.*484G>T) c.*943G>T (n.*943G>T) c.1257G>T (p.Glu419Asp) c.720G>T (p.Glu240Asp) c.999G>T (p.Glu333Asp) c.-4294966249G>T c.-4294965970G>T c.921G>T (p.Glu307Asp) | |
| 2 | g.232534274C>A | CA351005618 | CHRND | c.1303C>A (p.Leu435Met) c.*485C>A (n.*485C>A) c.*944C>A (n.*944C>A) c.1258C>A (p.Leu420Met) c.721C>A (p.Leu241Met) c.1000C>A (p.Leu334Met) c.-4294966248C>A c.-4294965969C>A c.922C>A (p.Leu308Met) | |
| 2 | g.232534274C>G | CA351005619 | CHRND | c.1303C>G (p.Leu435Val) c.*485C>G (n.*485C>G) c.*944C>G (n.*944C>G) c.1258C>G (p.Leu420Val) c.721C>G (p.Leu241Val) c.1000C>G (p.Leu334Val) c.-4294966248C>G c.-4294965969C>G c.922C>G (p.Leu308Val) | |
| 2 | g.232534274C>T | CA431952427 | CHRND | c.1303C>T (p.Leu435=) c.*485C>T (n.*485C>T) c.*944C>T (n.*944C>T) c.1258C>T (p.Leu420=) c.721C>T (p.Leu241=) c.1000C>T (p.Leu334=) c.-4294966248C>T c.-4294965969C>T c.922C>T (p.Leu308=) | |
| 2 | g.232534275T>A | CA351005621 | CHRND | c.1304T>A (p.Leu435Gln) c.*486T>A (n.*486T>A) c.*945T>A (n.*945T>A) c.1259T>A (p.Leu420Gln) c.722T>A (p.Leu241Gln) c.1001T>A (p.Leu334Gln) c.-4294966247T>A c.-4294965968T>A c.923T>A (p.Leu308Gln) | |
| 2 | g.232534275T>C | CA351005623 | CHRND | c.1304T>C (p.Leu435Pro) c.*486T>C (n.*486T>C) c.*945T>C (n.*945T>C) c.1259T>C (p.Leu420Pro) c.722T>C (p.Leu241Pro) c.1001T>C (p.Leu334Pro) c.-4294966247T>C c.-4294965968T>C c.923T>C (p.Leu308Pro) | |
| 2 | g.232534275T>G | CA351005625 | CHRND | c.1304T>G (p.Leu435Arg) c.*486T>G (n.*486T>G) c.*945T>G (n.*945T>G) c.1259T>G (p.Leu420Arg) c.722T>G (p.Leu241Arg) c.1001T>G (p.Leu334Arg) c.-4294966247T>G c.-4294965968T>G c.923T>G (p.Leu308Arg) | |
| 2 | g.232534276G>A | CA431952428 | CHRND | c.1305G>A (p.Leu435=) c.*487G>A (n.*487G>A) c.*946G>A (n.*946G>A) c.1260G>A (p.Leu420=) c.723G>A (p.Leu241=) c.1002G>A (p.Leu334=) c.-4294966246G>A c.-4294965967G>A c.924G>A (p.Leu308=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534276G>C | CA431952430 | CHRND | c.1305G>C (p.Leu435=) c.*487G>C (n.*487G>C) c.*946G>C (n.*946G>C) c.1260G>C (p.Leu420=) c.723G>C (p.Leu241=) c.1002G>C (p.Leu334=) c.-4294966246G>C c.-4294965967G>C c.924G>C (p.Leu308=) | |
| 2 | g.232534276G= | CA1335314089 | CHRND | c.1305G= (p.Leu435=) c.*487G= (n.*487G=) c.*946G= (n.*946G=) c.1260G= (p.Leu420=) c.723G= (p.Leu241=) c.1002G= (p.Leu334=) c.-4294966246G= c.-4294965967G= c.924G= (p.Leu308=) | |
| 2 | g.232534276G>T | CA431952432 | CHRND | c.1305G>T (p.Leu435=) c.*487G>T (n.*487G>T) c.*946G>T (n.*946G>T) c.1260G>T (p.Leu420=) c.723G>T (p.Leu241=) c.1002G>T (p.Leu334=) c.-4294966246G>T c.-4294965967G>T c.924G>T (p.Leu308=) | |
| 2 | g.232534277A>C | CA351005631 | CHRND | c.1306A>C (p.Lys436Gln) c.*488A>C (n.*488A>C) c.*947A>C (n.*947A>C) c.1261A>C (p.Lys421Gln) c.724A>C (p.Lys242Gln) c.1003A>C (p.Lys335Gln) c.-4294966245A>C c.-4294965966A>C c.925A>C (p.Lys309Gln) | gnomAD v4 |
| 2 | g.232534277A>G | CA351005629 | CHRND | c.1306A>G (p.Lys436Glu) c.*488A>G (n.*488A>G) c.*947A>G (n.*947A>G) c.1261A>G (p.Lys421Glu) c.724A>G (p.Lys242Glu) c.1003A>G (p.Lys335Glu) c.-4294966245A>G c.-4294965966A>G c.925A>G (p.Lys309Glu) | |
| 2 | g.232534277A>T | CA351005627 | CHRND | c.1306A>T (p.Lys436Ter) c.*488A>T (n.*488A>T) c.*947A>T (n.*947A>T) c.1261A>T (p.Lys421Ter) c.724A>T (p.Lys242Ter) c.1003A>T (p.Lys335Ter) c.-4294966245A>T c.-4294965966A>T c.925A>T (p.Lys309Ter) | |
| 2 | g.232534278A= | CA1335314090 | CHRND | c.1307A= (p.Lys436=) c.*489A= (n.*489A=) c.*948A= (n.*948A=) c.1262A= (p.Lys421=) c.725A= (p.Lys242=) c.1004A= (p.Lys335=) c.-4294966244A= c.-4294965965A= c.926A= (p.Lys309=) | |
| 2 | g.232534278A>C | CA351005632 | CHRND | c.1307A>C (p.Lys436Thr) c.*489A>C (n.*489A>C) c.*948A>C (n.*948A>C) c.1262A>C (p.Lys421Thr) c.725A>C (p.Lys242Thr) c.1004A>C (p.Lys335Thr) c.-4294966244A>C c.-4294965965A>C c.926A>C (p.Lys309Thr) | |
| 2 | g.232534278A>G | CA351005634 | CHRND | c.1307A>G (p.Lys436Arg) c.*489A>G (n.*489A>G) c.*948A>G (n.*948A>G) c.1262A>G (p.Lys421Arg) c.725A>G (p.Lys242Arg) c.1004A>G (p.Lys335Arg) c.-4294966244A>G c.-4294965965A>G c.926A>G (p.Lys309Arg) | dbSNP gnomAD v4 |
| 2 | g.232534278A>T | CA351005636 | CHRND | c.1307A>T (p.Lys436Met) c.*489A>T (n.*489A>T) c.*948A>T (n.*948A>T) c.1262A>T (p.Lys421Met) c.725A>T (p.Lys242Met) c.1004A>T (p.Lys335Met) c.-4294966244A>T c.-4294965965A>T c.926A>T (p.Lys309Met) | |
| 2 | g.232534279G>A | CA431952435 | CHRND | c.1308G>A (p.Lys436=) c.*490G>A (n.*490G>A) c.*949G>A (n.*949G>A) c.1263G>A (p.Lys421=) c.726G>A (p.Lys242=) c.1005G>A (p.Lys335=) c.-4294966243G>A c.-4294965964G>A c.927G>A (p.Lys309=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232534279G>C | CA351005637 | CHRND | c.1308G>C (p.Lys436Asn) c.*490G>C (n.*490G>C) c.*949G>C (n.*949G>C) c.1263G>C (p.Lys421Asn) c.726G>C (p.Lys242Asn) c.1005G>C (p.Lys335Asn) c.-4294966243G>C c.-4294965964G>C c.927G>C (p.Lys309Asn) | |
| 2 | g.232534279G= | CA1335314091 | CHRND | c.1308G= (p.Lys436=) c.*490G= (n.*490G=) c.*949G= (n.*949G=) c.1263G= (p.Lys421=) c.726G= (p.Lys242=) c.1005G= (p.Lys335=) c.-4294966243G= c.-4294965964G= c.927G= (p.Lys309=) | |
| 2 | g.232534279G>T | CA351005639 | CHRND | c.1308G>T (p.Lys436Asn) c.*490G>T (n.*490G>T) c.*949G>T (n.*949G>T) c.1263G>T (p.Lys421Asn) c.726G>T (p.Lys242Asn) c.1005G>T (p.Lys335Asn) c.-4294966243G>T c.-4294965964G>T c.927G>T (p.Lys309Asn) | |
| 2 | g.232534280C>A | CA351005642 | CHRND | c.1309C>A (p.Pro437Thr) c.*491C>A (n.*491C>A) c.*950C>A (n.*950C>A) c.1264C>A (p.Pro422Thr) c.727C>A (p.Pro243Thr) c.1006C>A (p.Pro336Thr) c.-4294966242C>A c.-4294965963C>A c.928C>A (p.Pro310Thr) | gnomAD v4 |
| 2 | g.232534280C>G | CA351005643 | CHRND | c.1309C>G (p.Pro437Ala) c.*491C>G (n.*491C>G) c.*950C>G (n.*950C>G) c.1264C>G (p.Pro422Ala) c.727C>G (p.Pro243Ala) c.1006C>G (p.Pro336Ala) c.-4294966242C>G c.-4294965963C>G c.928C>G (p.Pro310Ala) | |
| 2 | g.232534280C>T | CA351005644 | CHRND | c.1309C>T (p.Pro437Ser) c.*491C>T (n.*491C>T) c.*950C>T (n.*950C>T) c.1264C>T (p.Pro422Ser) c.727C>T (p.Pro243Ser) c.1006C>T (p.Pro336Ser) c.-4294966242C>T c.-4294965963C>T c.928C>T (p.Pro310Ser) | |
| 2 | g.232534281C>A | CA351005646 | CHRND | c.1310C>A (p.Pro437Gln) c.*492C>A (n.*492C>A) c.*951C>A (n.*951C>A) c.1265C>A (p.Pro422Gln) c.728C>A (p.Pro243Gln) c.1007C>A (p.Pro336Gln) c.-4294966241C>A c.-4294965962C>A c.929C>A (p.Pro310Gln) | gnomAD v4 |
| 2 | g.232534281C= | CA1335314092 | CHRND | c.1310C= (p.Pro437=) c.*492C= (n.*492C=) c.*951C= (n.*951C=) c.1265C= (p.Pro422=) c.728C= (p.Pro243=) c.1007C= (p.Pro336=) c.-4294966241C= c.-4294965962C= c.929C= (p.Pro310=) | |
| 2 | g.232534281C>G | CA351005648 | CHRND | c.1310C>G (p.Pro437Arg) c.*492C>G (n.*492C>G) c.*951C>G (n.*951C>G) c.1265C>G (p.Pro422Arg) c.728C>G (p.Pro243Arg) c.1007C>G (p.Pro336Arg) c.-4294966241C>G c.-4294965962C>G c.929C>G (p.Pro310Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534281C>T | CA351005650 | CHRND | c.1310C>T (p.Pro437Leu) c.*492C>T (n.*492C>T) c.*951C>T (n.*951C>T) c.1265C>T (p.Pro422Leu) c.728C>T (p.Pro243Leu) c.1007C>T (p.Pro336Leu) c.-4294966241C>T c.-4294965962C>T c.929C>T (p.Pro310Leu) | gnomAD v4 |
| 2 | g.232534282del | CA2577278164 | CHRND | c.1311del (p.Ala438LeufsTer12) c.*493del (n.*493del) c.*952del (n.*952del) c.1266del (p.Ala423LeufsTer12) c.729del (p.Ala244LeufsTer12) c.1008del (p.Ala337LeufsTer12) c.-4294966240del c.-4294965961del c.930del (p.Ala311LeufsTer12) | |
| 2 | g.232534282A>C | CA431952439 | CHRND | c.1311A>C (p.Pro437=) c.*493A>C (n.*493A>C) c.*952A>C (n.*952A>C) c.1266A>C (p.Pro422=) c.729A>C (p.Pro243=) c.1008A>C (p.Pro336=) c.-4294966240A>C c.-4294965961A>C c.930A>C (p.Pro310=) | |
| 2 | g.232534282A>G | CA431952441 | CHRND | c.1311A>G (p.Pro437=) c.*493A>G (n.*493A>G) c.*952A>G (n.*952A>G) c.1266A>G (p.Pro422=) c.729A>G (p.Pro243=) c.1008A>G (p.Pro336=) c.-4294966240A>G c.-4294965961A>G c.930A>G (p.Pro310=) | |
| 2 | g.232534282A>T | CA431952440 | CHRND | c.1311A>T (p.Pro437=) c.*493A>T (n.*493A>T) c.*952A>T (n.*952A>T) c.1266A>T (p.Pro422=) c.729A>T (p.Pro243=) c.1008A>T (p.Pro336=) c.-4294966240A>T c.-4294965961A>T c.930A>T (p.Pro310=) | |
| 2 | g.232534283G>A | CA351005652 | CHRND | c.1312G>A (p.Ala438Thr) c.*494G>A (n.*494G>A) c.*953G>A (n.*953G>A) c.1267G>A (p.Ala423Thr) c.730G>A (p.Ala244Thr) c.1009G>A (p.Ala337Thr) c.-4294966239G>A c.-4294965960G>A c.931G>A (p.Ala311Thr) | |
| 2 | g.232534283G>C | CA351005654 | CHRND | c.1312G>C (p.Ala438Pro) c.*494G>C (n.*494G>C) c.*953G>C (n.*953G>C) c.1267G>C (p.Ala423Pro) c.730G>C (p.Ala244Pro) c.1009G>C (p.Ala337Pro) c.-4294966239G>C c.-4294965960G>C c.931G>C (p.Ala311Pro) | |
| 2 | g.232534283G>T | CA351005656 | CHRND | c.1312G>T (p.Ala438Ser) c.*494G>T (n.*494G>T) c.*953G>T (n.*953G>T) c.1267G>T (p.Ala423Ser) c.730G>T (p.Ala244Ser) c.1009G>T (p.Ala337Ser) c.-4294966239G>T c.-4294965960G>T c.931G>T (p.Ala311Ser) | |
| 2 | g.232534284C>A | CA351005659 | CHRND | c.1313C>A (p.Ala438Asp) c.*495C>A (n.*495C>A) c.*954C>A (n.*954C>A) c.1268C>A (p.Ala423Asp) c.731C>A (p.Ala244Asp) c.1010C>A (p.Ala337Asp) c.-4294966238C>A c.-4294965959C>A c.932C>A (p.Ala311Asp) | |
| 2 | g.232534284C>G | CA351005660 | CHRND | c.1313C>G (p.Ala438Gly) c.*495C>G (n.*495C>G) c.*954C>G (n.*954C>G) c.1268C>G (p.Ala423Gly) c.731C>G (p.Ala244Gly) c.1010C>G (p.Ala337Gly) c.-4294966238C>G c.-4294965959C>G c.932C>G (p.Ala311Gly) | |
| 2 | g.232534284C>T | CA351005657 | CHRND | c.1313C>T (p.Ala438Val) c.*495C>T (n.*495C>T) c.*954C>T (n.*954C>T) c.1268C>T (p.Ala423Val) c.731C>T (p.Ala244Val) c.1010C>T (p.Ala337Val) c.-4294966238C>T c.-4294965959C>T c.932C>T (p.Ala311Val) | |
| 2 | g.232534285T>A | CA431952444 | CHRND | c.1314T>A (p.Ala438=) c.*496T>A (n.*496T>A) c.*955T>A (n.*955T>A) c.1269T>A (p.Ala423=) c.732T>A (p.Ala244=) c.1011T>A (p.Ala337=) c.-4294966237T>A c.-4294965958T>A c.933T>A (p.Ala311=) | |
| 2 | g.232534285T>C | CA66957686 | CHRND | c.1314T>C (p.Ala438=) c.*496T>C (n.*496T>C) c.*955T>C (n.*955T>C) c.1269T>C (p.Ala423=) c.732T>C (p.Ala244=) c.1011T>C (p.Ala337=) c.-4294966237T>C c.-4294965958T>C c.933T>C (p.Ala311=) | dbSNP |
| 2 | g.232534285T>G | CA431952445 | CHRND | c.1314T>G (p.Ala438=) c.*496T>G (n.*496T>G) c.*955T>G (n.*955T>G) c.1269T>G (p.Ala423=) c.732T>G (p.Ala244=) c.1011T>G (p.Ala337=) c.-4294966237T>G c.-4294965958T>G c.933T>G (p.Ala311=) | |
| 2 | g.232534285T= | CA1335314093 | CHRND | c.1314T= (p.Ala438=) c.*496T= (n.*496T=) c.*955T= (n.*955T=) c.1269T= (p.Ala423=) c.732T= (p.Ala244=) c.1011T= (p.Ala337=) c.-4294966237T= c.-4294965958T= c.933T= (p.Ala311=) | |
| 2 | g.232534286del | CA2586971733 | CHRND | c.1315del (p.Val439TrpfsTer11) c.*497del (n.*497del) c.*956del (n.*956del) c.1270del (p.Val424TrpfsTer11) c.733del (p.Val245TrpfsTer11) c.1012del (p.Val338TrpfsTer11) c.-4294966236del c.-4294965957del c.934del (p.Val312TrpfsTer11) | gnomAD v4 |
| 2 | g.232534286G>A | CA351005663 | CHRND | c.1315G>A (p.Val439Met) c.*497G>A (n.*497G>A) c.*956G>A (n.*956G>A) c.1270G>A (p.Val424Met) c.733G>A (p.Val245Met) c.1012G>A (p.Val338Met) c.-4294966236G>A c.-4294965957G>A c.934G>A (p.Val312Met) | dbSNP gnomAD v4 |
| 2 | g.232534286G>C | CA351005667 | CHRND | c.1315G>C (p.Val439Leu) c.*497G>C (n.*497G>C) c.*956G>C (n.*956G>C) c.1270G>C (p.Val424Leu) c.733G>C (p.Val245Leu) c.1012G>C (p.Val338Leu) c.-4294966236G>C c.-4294965957G>C c.934G>C (p.Val312Leu) | |
| 2 | g.232534286G= | CA1335314094 | CHRND | c.1315G= (p.Val439=) c.*497G= (n.*497G=) c.*956G= (n.*956G=) c.1270G= (p.Val424=) c.733G= (p.Val245=) c.1012G= (p.Val338=) c.-4294966236G= c.-4294965957G= c.934G= (p.Val312=) | |
| 2 | g.232534286G>T | CA351005665 | CHRND | c.1315G>T (p.Val439Leu) c.*497G>T (n.*497G>T) c.*956G>T (n.*956G>T) c.1270G>T (p.Val424Leu) c.733G>T (p.Val245Leu) c.1012G>T (p.Val338Leu) c.-4294966236G>T c.-4294965957G>T c.934G>T (p.Val312Leu) | |
| 2 | g.232534287T>A | CA351005669 | CHRND | c.1316T>A (p.Val439Glu) c.*498T>A (n.*498T>A) c.*957T>A (n.*957T>A) c.1271T>A (p.Val424Glu) c.734T>A (p.Val245Glu) c.1013T>A (p.Val338Glu) c.-4294966235T>A c.-4294965956T>A c.935T>A (p.Val312Glu) | |
| 2 | g.232534287T>C | CA351005673 | CHRND | c.1316T>C (p.Val439Ala) c.*498T>C (n.*498T>C) c.*957T>C (n.*957T>C) c.1271T>C (p.Val424Ala) c.734T>C (p.Val245Ala) c.1013T>C (p.Val338Ala) c.-4294966235T>C c.-4294965956T>C c.935T>C (p.Val312Ala) | |
| 2 | g.232534287T>G | CA351005671 | CHRND | c.1316T>G (p.Val439Gly) c.*498T>G (n.*498T>G) c.*957T>G (n.*957T>G) c.1271T>G (p.Val424Gly) c.734T>G (p.Val245Gly) c.1013T>G (p.Val338Gly) c.-4294966235T>G c.-4294965956T>G c.935T>G (p.Val312Gly) | |
| 2 | g.232534288G>A | CA431952447 | CHRND | c.1317G>A (p.Val439=) c.*499G>A (n.*499G>A) c.*958G>A (n.*958G>A) c.1272G>A (p.Val424=) c.735G>A (p.Val245=) c.1014G>A (p.Val338=) c.-4294966234G>A c.-4294965955G>A c.936G>A (p.Val312=) | COSMIC |
| 2 | g.232534288G>C | CA431952448 | CHRND | c.1317G>C (p.Val439=) c.*499G>C (n.*499G>C) c.*958G>C (n.*958G>C) c.1272G>C (p.Val424=) c.735G>C (p.Val245=) c.1014G>C (p.Val338=) c.-4294966234G>C c.-4294965955G>C c.936G>C (p.Val312=) | |
| 2 | g.232534288G>T | CA431952449 | CHRND | c.1317G>T (p.Val439=) c.*499G>T (n.*499G>T) c.*958G>T (n.*958G>T) c.1272G>T (p.Val424=) c.735G>T (p.Val245=) c.1014G>T (p.Val338=) c.-4294966234G>T c.-4294965955G>T c.936G>T (p.Val312=) | |
| 2 | g.232534289G>A | CA351005674 | CHRND | c.1318G>A (p.Asp440Asn) c.*500G>A (n.*500G>A) c.*959G>A (n.*959G>A) c.1273G>A (p.Asp425Asn) c.736G>A (p.Asp246Asn) c.1015G>A (p.Asp339Asn) c.-4294966233G>A c.-4294965954G>A c.937G>A (p.Asp313Asn) | |
| 2 | g.232534289G>C | CA351005676 | CHRND | c.1318G>C (p.Asp440His) c.*500G>C (n.*500G>C) c.*959G>C (n.*959G>C) c.1273G>C (p.Asp425His) c.736G>C (p.Asp246His) c.1015G>C (p.Asp339His) c.-4294966233G>C c.-4294965954G>C c.937G>C (p.Asp313His) | dbSNP |
| 2 | g.232534289G= | CA1335314095 | CHRND | c.1318G= (p.Asp440=) c.*500G= (n.*500G=) c.*959G= (n.*959G=) c.1273G= (p.Asp425=) c.736G= (p.Asp246=) c.1015G= (p.Asp339=) c.-4294966233G= c.-4294965954G= c.937G= (p.Asp313=) | |
| 2 | g.232534289G>T | CA351005678 | CHRND | c.1318G>T (p.Asp440Tyr) c.*500G>T (n.*500G>T) c.*959G>T (n.*959G>T) c.1273G>T (p.Asp425Tyr) c.736G>T (p.Asp246Tyr) c.1015G>T (p.Asp339Tyr) c.-4294966233G>T c.-4294965954G>T c.937G>T (p.Asp313Tyr) | |
| 2 | g.232534290A= | CA1335314096 | CHRND | c.1319A= (p.Asp440=) c.*501A= (n.*501A=) c.*960A= (n.*960A=) c.1274A= (p.Asp425=) c.737A= (p.Asp246=) c.1016A= (p.Asp339=) c.-4294966232A= c.-4294965953A= c.938A= (p.Asp313=) | |
| 2 | g.232534290A>C | CA351005680 | CHRND | c.1319A>C (p.Asp440Ala) c.*501A>C (n.*501A>C) c.*960A>C (n.*960A>C) c.1274A>C (p.Asp425Ala) c.737A>C (p.Asp246Ala) c.1016A>C (p.Asp339Ala) c.-4294966232A>C c.-4294965953A>C c.938A>C (p.Asp313Ala) | |
| 2 | g.232534290A>G | CA355015 | CHRND | c.1319A>G (p.Asp440Gly) c.*501A>G (n.*501A>G) c.*960A>G (n.*960A>G) c.1274A>G (p.Asp425Gly) c.737A>G (p.Asp246Gly) c.1016A>G (p.Asp339Gly) c.-4294966232A>G c.-4294965953A>G c.938A>G (p.Asp313Gly) | dbSNP |
| 2 | g.232534290A>T | CA2168322 | CHRND | c.1319A>T (p.Asp440Val) c.*501A>T (n.*501A>T) c.*960A>T (n.*960A>T) c.1274A>T (p.Asp425Val) c.737A>T (p.Asp246Val) c.1016A>T (p.Asp339Val) c.-4294966232A>T c.-4294965953A>T c.938A>T (p.Asp313Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534291T>A | CA351005682 | CHRND | c.1320T>A (p.Asp440Glu) c.*502T>A (n.*502T>A) c.*961T>A (n.*961T>A) c.1275T>A (p.Asp425Glu) c.738T>A (p.Asp246Glu) c.1017T>A (p.Asp339Glu) c.-4294966231T>A c.-4294965952T>A c.939T>A (p.Asp313Glu) | |
| 2 | g.232534291T>C | CA431952453 | CHRND | c.1320T>C (p.Asp440=) c.*502T>C (n.*502T>C) c.*961T>C (n.*961T>C) c.1275T>C (p.Asp425=) c.738T>C (p.Asp246=) c.1017T>C (p.Asp339=) c.-4294966231T>C c.-4294965952T>C c.939T>C (p.Asp313=) | |
| 2 | g.232534291T>G | CA351005684 | CHRND | c.1320T>G (p.Asp440Glu) c.*502T>G (n.*502T>G) c.*961T>G (n.*961T>G) c.1275T>G (p.Asp425Glu) c.738T>G (p.Asp246Glu) c.1017T>G (p.Asp339Glu) c.-4294966231T>G c.-4294965952T>G c.939T>G (p.Asp313Glu) | |
| 2 | g.232534292G>A | CA351005687 | CHRND | c.1321G>A (p.Gly441Arg) c.*503G>A (n.*503G>A) c.*962G>A (n.*962G>A) c.1276G>A (p.Gly426Arg) c.739G>A (p.Gly247Arg) c.1018G>A (p.Gly340Arg) c.-4294966230G>A c.-4294965951G>A c.940G>A (p.Gly314Arg) | |
| 2 | g.232534292G>C | CA351005688 | CHRND | c.1321G>C (p.Gly441Arg) c.*503G>C (n.*503G>C) c.*962G>C (n.*962G>C) c.1276G>C (p.Gly426Arg) c.739G>C (p.Gly247Arg) c.1018G>C (p.Gly340Arg) c.-4294966230G>C c.-4294965951G>C c.940G>C (p.Gly314Arg) | |
| 2 | g.232534292G>T | CA351005690 | CHRND | c.1321G>T (p.Gly441Trp) c.*503G>T (n.*503G>T) c.*962G>T (n.*962G>T) c.1276G>T (p.Gly426Trp) c.739G>T (p.Gly247Trp) c.1018G>T (p.Gly340Trp) c.-4294966230G>T c.-4294965951G>T c.940G>T (p.Gly314Trp) | |
| 2 | g.232534293G>A | CA351005697 | CHRND | c.1322G>A (p.Gly441Glu) c.*504G>A (n.*504G>A) c.*963G>A (n.*963G>A) c.1277G>A (p.Gly426Glu) c.740G>A (p.Gly247Glu) c.1019G>A (p.Gly340Glu) c.-4294966229G>A c.-4294965950G>A c.941G>A (p.Gly314Glu) | gnomAD v4 |
| 2 | g.232534293G>C | CA351005695 | CHRND | c.1322G>C (p.Gly441Ala) c.*504G>C (n.*504G>C) c.*963G>C (n.*963G>C) c.1277G>C (p.Gly426Ala) c.740G>C (p.Gly247Ala) c.1019G>C (p.Gly340Ala) c.-4294966229G>C c.-4294965950G>C c.941G>C (p.Gly314Ala) | |
| 2 | g.232534293G>T | CA351005693 | CHRND | c.1322G>T (p.Gly441Val) c.*504G>T (n.*504G>T) c.*963G>T (n.*963G>T) c.1277G>T (p.Gly426Val) c.740G>T (p.Gly247Val) c.1019G>T (p.Gly340Val) c.-4294966229G>T c.-4294965950G>T c.941G>T (p.Gly314Val) | |
| 2 | g.232534294G>A | CA431952458 | CHRND | c.1323G>A (p.Gly441=) c.*505G>A (n.*505G>A) c.*964G>A (n.*964G>A) c.1278G>A (p.Gly426=) c.741G>A (p.Gly247=) c.1020G>A (p.Gly340=) c.-4294966228G>A c.-4294965949G>A c.942G>A (p.Gly314=) | COSMIC |
| 2 | g.232534294G>C | CA431952459 | CHRND | c.1323G>C (p.Gly441=) c.*505G>C (n.*505G>C) c.*964G>C (n.*964G>C) c.1278G>C (p.Gly426=) c.741G>C (p.Gly247=) c.1020G>C (p.Gly340=) c.-4294966228G>C c.-4294965949G>C c.942G>C (p.Gly314=) | |
| 2 | g.232534294G>T | CA431952460 | CHRND | c.1323G>T (p.Gly441=) c.*505G>T (n.*505G>T) c.*964G>T (n.*964G>T) c.1278G>T (p.Gly426=) c.741G>T (p.Gly247=) c.1020G>T (p.Gly340=) c.-4294966228G>T c.-4294965949G>T c.942G>T (p.Gly314=) | |
| 2 | g.232534295G>A | CA351005700 | CHRND | c.1324G>A (p.Ala442Thr) c.*506G>A (n.*506G>A) c.*965G>A (n.*965G>A) c.1279G>A (p.Ala427Thr) c.742G>A (p.Ala248Thr) c.1021G>A (p.Ala341Thr) c.-4294966227G>A c.-4294965948G>A c.943G>A (p.Ala315Thr) | |
| 2 | g.232534295G>C | CA351005701 | CHRND | c.1324G>C (p.Ala442Pro) c.*506G>C (n.*506G>C) c.*965G>C (n.*965G>C) c.1279G>C (p.Ala427Pro) c.742G>C (p.Ala248Pro) c.1021G>C (p.Ala341Pro) c.-4294966227G>C c.-4294965948G>C c.943G>C (p.Ala315Pro) | |
| 2 | g.232534295G= | CA1335314097 | CHRND | c.1324G= (p.Ala442=) c.*506G= (n.*506G=) c.*965G= (n.*965G=) c.1279G= (p.Ala427=) c.742G= (p.Ala248=) c.1021G= (p.Ala341=) c.-4294966227G= c.-4294965948G= c.943G= (p.Ala315=) | |
| 2 | g.232534295G>T | CA351005703 | CHRND | c.1324G>T (p.Ala442Ser) c.*506G>T (n.*506G>T) c.*965G>T (n.*965G>T) c.1279G>T (p.Ala427Ser) c.742G>T (p.Ala248Ser) c.1021G>T (p.Ala341Ser) c.-4294966227G>T c.-4294965948G>T c.943G>T (p.Ala315Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232534296C>A | CA351005705 | CHRND | c.1325C>A (p.Ala442Glu) c.*507C>A (n.*507C>A) c.*966C>A (n.*966C>A) c.1280C>A (p.Ala427Glu) c.743C>A (p.Ala248Glu) c.1022C>A (p.Ala341Glu) c.-4294966226C>A c.-4294965947C>A c.944C>A (p.Ala315Glu) | |
| 2 | g.232534296C>G | CA351005706 | CHRND | c.1325C>G (p.Ala442Gly) c.*507C>G (n.*507C>G) c.*966C>G (n.*966C>G) c.1280C>G (p.Ala427Gly) c.743C>G (p.Ala248Gly) c.1022C>G (p.Ala341Gly) c.-4294966226C>G c.-4294965947C>G c.944C>G (p.Ala315Gly) | |
| 2 | g.232534296C>T | CA351005708 | CHRND | c.1325C>T (p.Ala442Val) c.*507C>T (n.*507C>T) c.*966C>T (n.*966C>T) c.1280C>T (p.Ala427Val) c.743C>T (p.Ala248Val) c.1022C>T (p.Ala341Val) c.-4294966226C>T c.-4294965947C>T c.944C>T (p.Ala315Val) | ClinVar |
| 2 | g.232534297A>C | CA431952462 | CHRND | c.1326A>C (p.Ala442=) c.*508A>C (n.*508A>C) c.*967A>C (n.*967A>C) c.1281A>C (p.Ala427=) c.744A>C (p.Ala248=) c.1023A>C (p.Ala341=) c.-4294966225A>C c.-4294965946A>C c.945A>C (p.Ala315=) | |
| 2 | g.232534297A>G | CA431952463 | CHRND | c.1326A>G (p.Ala442=) c.*508A>G (n.*508A>G) c.*967A>G (n.*967A>G) c.1281A>G (p.Ala427=) c.744A>G (p.Ala248=) c.1023A>G (p.Ala341=) c.-4294966225A>G c.-4294965946A>G c.945A>G (p.Ala315=) | |
| 2 | g.232534297A>T | CA431952464 | CHRND | c.1326A>T (p.Ala442=) c.*508A>T (n.*508A>T) c.*967A>T (n.*967A>T) c.1281A>T (p.Ala427=) c.744A>T (p.Ala248=) c.1023A>T (p.Ala341=) c.-4294966225A>T c.-4294965946A>T c.945A>T (p.Ala315=) | |
| 2 | g.232534298A>C | CA351005711 | CHRND | c.1327A>C (p.Asn443His) c.*509A>C (n.*509A>C) c.*968A>C (n.*968A>C) c.1282A>C (p.Asn428His) c.745A>C (p.Asn249His) c.1024A>C (p.Asn342His) c.-4294966224A>C c.-4294965945A>C c.946A>C (p.Asn316His) | |
| 2 | g.232534298A>G | CA351005713 | CHRND | c.1327A>G (p.Asn443Asp) c.*509A>G (n.*509A>G) c.*968A>G (n.*968A>G) c.1282A>G (p.Asn428Asp) c.745A>G (p.Asn249Asp) c.1024A>G (p.Asn342Asp) c.-4294966224A>G c.-4294965945A>G c.946A>G (p.Asn316Asp) | |
| 2 | g.232534298A>T | CA351005714 | CHRND | c.1327A>T (p.Asn443Tyr) c.*509A>T (n.*509A>T) c.*968A>T (n.*968A>T) c.1282A>T (p.Asn428Tyr) c.745A>T (p.Asn249Tyr) c.1024A>T (p.Asn342Tyr) c.-4294966224A>T c.-4294965945A>T c.946A>T (p.Asn316Tyr) | |
| 2 | g.232534299A>C | CA351005717 | CHRND | c.1328A>C (p.Asn443Thr) c.*510A>C (n.*510A>C) c.*969A>C (n.*969A>C) c.1283A>C (p.Asn428Thr) c.746A>C (p.Asn249Thr) c.1025A>C (p.Asn342Thr) c.-4294966223A>C c.-4294965944A>C c.947A>C (p.Asn316Thr) | |
| 2 | g.232534299A>G | CA351005718 | CHRND | c.1328A>G (p.Asn443Ser) c.*510A>G (n.*510A>G) c.*969A>G (n.*969A>G) c.1283A>G (p.Asn428Ser) c.746A>G (p.Asn249Ser) c.1025A>G (p.Asn342Ser) c.-4294966223A>G c.-4294965944A>G c.947A>G (p.Asn316Ser) | ClinVar dbSNP |
| 2 | g.232534299A>T | CA351005721 | CHRND | c.1328A>T (p.Asn443Ile) c.*510A>T (n.*510A>T) c.*969A>T (n.*969A>T) c.1283A>T (p.Asn428Ile) c.746A>T (p.Asn249Ile) c.1025A>T (p.Asn342Ile) c.-4294966223A>T c.-4294965944A>T c.947A>T (p.Asn316Ile) | |
| 2 | g.232534300C>A | CA351005725 | CHRND | c.1329C>A (p.Asn443Lys) c.*511C>A (n.*511C>A) c.*970C>A (n.*970C>A) c.1284C>A (p.Asn428Lys) c.747C>A (p.Asn249Lys) c.1026C>A (p.Asn342Lys) c.-4294966222C>A c.-4294965943C>A c.948C>A (p.Asn316Lys) | |
| 2 | g.232534300C>G | CA351005723 | CHRND | c.1329C>G (p.Asn443Lys) c.*511C>G (n.*511C>G) c.*970C>G (n.*970C>G) c.1284C>G (p.Asn428Lys) c.747C>G (p.Asn249Lys) c.1026C>G (p.Asn342Lys) c.-4294966222C>G c.-4294965943C>G c.948C>G (p.Asn316Lys) | |
| 2 | g.232534300C>T | CA431952465 | CHRND | c.1329C>T (p.Asn443=) c.*511C>T (n.*511C>T) c.*970C>T (n.*970C>T) c.1284C>T (p.Asn428=) c.747C>T (p.Asn249=) c.1026C>T (p.Asn342=) c.-4294966222C>T c.-4294965943C>T c.948C>T (p.Asn316=) | |
| 2 | g.232534301T>A | CA351005728 | CHRND | c.1330T>A (p.Phe444Ile) c.*512T>A (n.*512T>A) c.*971T>A (n.*971T>A) c.1285T>A (p.Phe429Ile) c.748T>A (p.Phe250Ile) c.1027T>A (p.Phe343Ile) c.-4294966221T>A c.-4294965942T>A c.949T>A (p.Phe317Ile) | |
| 2 | g.232534301T>C | CA2168323 | CHRND | c.1330T>C (p.Phe444Leu) c.*512T>C (n.*512T>C) c.*971T>C (n.*971T>C) c.1285T>C (p.Phe429Leu) c.748T>C (p.Phe250Leu) c.1027T>C (p.Phe343Leu) c.-4294966221T>C c.-4294965942T>C c.949T>C (p.Phe317Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.232534301T>G | CA351005731 | CHRND | c.1330T>G (p.Phe444Val) c.*512T>G (n.*512T>G) c.*971T>G (n.*971T>G) c.1285T>G (p.Phe429Val) c.748T>G (p.Phe250Val) c.1027T>G (p.Phe343Val) c.-4294966221T>G c.-4294965942T>G c.949T>G (p.Phe317Val) | gnomAD v4 |
| 2 | g.232534301T= | CA1335314098 | CHRND | c.1330T= (p.Phe444=) c.*512T= (n.*512T=) c.*971T= (n.*971T=) c.1285T= (p.Phe429=) c.748T= (p.Phe250=) c.1027T= (p.Phe343=) c.-4294966221T= c.-4294965942T= c.949T= (p.Phe317=) | |
| 2 | g.232534302T>A | CA351005733 | CHRND | c.1331T>A (p.Phe444Tyr) c.*513T>A (n.*513T>A) c.*972T>A (n.*972T>A) c.1286T>A (p.Phe429Tyr) c.749T>A (p.Phe250Tyr) c.1028T>A (p.Phe343Tyr) c.-4294966220T>A c.-4294965941T>A c.950T>A (p.Phe317Tyr) | |
| 2 | g.232534302T>C | CA351005734 | CHRND | c.1331T>C (p.Phe444Ser) c.*513T>C (n.*513T>C) c.*972T>C (n.*972T>C) c.1286T>C (p.Phe429Ser) c.749T>C (p.Phe250Ser) c.1028T>C (p.Phe343Ser) c.-4294966220T>C c.-4294965941T>C c.950T>C (p.Phe317Ser) | |
| 2 | g.232534302T>G | CA351005736 | CHRND | c.1331T>G (p.Phe444Cys) c.*513T>G (n.*513T>G) c.*972T>G (n.*972T>G) c.1286T>G (p.Phe429Cys) c.749T>G (p.Phe250Cys) c.1028T>G (p.Phe343Cys) c.-4294966220T>G c.-4294965941T>G c.950T>G (p.Phe317Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534302T= | CA1335314099 | CHRND | c.1331T= (p.Phe444=) c.*513T= (n.*513T=) c.*972T= (n.*972T=) c.1286T= (p.Phe429=) c.749T= (p.Phe250=) c.1028T= (p.Phe343=) c.-4294966220T= c.-4294965941T= c.950T= (p.Phe317=) | |
| 2 | g.232534303C>A | CA351005738 | CHRND | c.1332C>A (p.Phe444Leu) c.*514C>A (n.*514C>A) c.*973C>A (n.*973C>A) c.1287C>A (p.Phe429Leu) c.750C>A (p.Phe250Leu) c.1029C>A (p.Phe343Leu) c.-4294966219C>A c.-4294965940C>A c.951C>A (p.Phe317Leu) | |
| 2 | g.232534303C>G | CA351005743 | CHRND | c.1332C>G (p.Phe444Leu) c.*514C>G (n.*514C>G) c.*973C>G (n.*973C>G) c.1287C>G (p.Phe429Leu) c.750C>G (p.Phe250Leu) c.1029C>G (p.Phe343Leu) c.-4294966219C>G c.-4294965940C>G c.951C>G (p.Phe317Leu) | |
| 2 | g.232534303C>T | CA431952469 | CHRND | c.1332C>T (p.Phe444=) c.*514C>T (n.*514C>T) c.*973C>T (n.*973C>T) c.1287C>T (p.Phe429=) c.750C>T (p.Phe250=) c.1029C>T (p.Phe343=) c.-4294966219C>T c.-4294965940C>T c.951C>T (p.Phe317=) | |
| 2 | g.232534304A>C | CA351005746 | CHRND | c.1333A>C (p.Ile445Leu) c.*515A>C (n.*515A>C) c.*974A>C (n.*974A>C) c.1288A>C (p.Ile430Leu) c.751A>C (p.Ile251Leu) c.1030A>C (p.Ile344Leu) c.-4294966218A>C c.-4294965939A>C c.952A>C (p.Ile318Leu) | |
| 2 | g.232534304A>G | CA351005749 | CHRND | c.1333A>G (p.Ile445Val) c.*515A>G (n.*515A>G) c.*974A>G (n.*974A>G) c.1288A>G (p.Ile430Val) c.751A>G (p.Ile251Val) c.1030A>G (p.Ile344Val) c.-4294966218A>G c.-4294965939A>G c.952A>G (p.Ile318Val) | gnomAD v4 |
| 2 | g.232534304A>T | CA351005748 | CHRND | c.1333A>T (p.Ile445Phe) c.*515A>T (n.*515A>T) c.*974A>T (n.*974A>T) c.1288A>T (p.Ile430Phe) c.751A>T (p.Ile251Phe) c.1030A>T (p.Ile344Phe) c.-4294966218A>T c.-4294965939A>T c.952A>T (p.Ile318Phe) | |
| 2 | g.232534305T>A | CA351005752 | CHRND | c.1334T>A (p.Ile445Asn) c.*516T>A (n.*516T>A) c.*975T>A (n.*975T>A) c.1289T>A (p.Ile430Asn) c.752T>A (p.Ile251Asn) c.1031T>A (p.Ile344Asn) c.-4294966217T>A c.-4294965938T>A c.953T>A (p.Ile318Asn) | |
| 2 | g.232534305T>C | CA2168324 | CHRND | c.1334T>C (p.Ile445Thr) c.*516T>C (n.*516T>C) c.*975T>C (n.*975T>C) c.1289T>C (p.Ile430Thr) c.752T>C (p.Ile251Thr) c.1031T>C (p.Ile344Thr) c.-4294966217T>C c.-4294965938T>C c.953T>C (p.Ile318Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534305T>G | CA351005755 | CHRND | c.1334T>G (p.Ile445Ser) c.*516T>G (n.*516T>G) c.*975T>G (n.*975T>G) c.1289T>G (p.Ile430Ser) c.752T>G (p.Ile251Ser) c.1031T>G (p.Ile344Ser) c.-4294966217T>G c.-4294965938T>G c.953T>G (p.Ile318Ser) | |
| 2 | g.232534305T= | CA1335314100 | CHRND | c.1334T= (p.Ile445=) c.*516T= (n.*516T=) c.*975T= (n.*975T=) c.1289T= (p.Ile430=) c.752T= (p.Ile251=) c.1031T= (p.Ile344=) c.-4294966217T= c.-4294965938T= c.953T= (p.Ile318=) | |
| 2 | g.232534306T>A | CA431952474 | CHRND | c.1335T>A (p.Ile445=) c.*517T>A (n.*517T>A) c.*976T>A (n.*976T>A) c.1290T>A (p.Ile430=) c.753T>A (p.Ile251=) c.1032T>A (p.Ile344=) c.-4294966216T>A c.-4294965937T>A c.954T>A (p.Ile318=) | |
| 2 | g.232534306T>C | CA431952473 | CHRND | c.1335T>C (p.Ile445=) c.*517T>C (n.*517T>C) c.*976T>C (n.*976T>C) c.1290T>C (p.Ile430=) c.753T>C (p.Ile251=) c.1032T>C (p.Ile344=) c.-4294966216T>C c.-4294965937T>C c.954T>C (p.Ile318=) | |
| 2 | g.232534306T>G | CA351005757 | CHRND | c.1335T>G (p.Ile445Met) c.*517T>G (n.*517T>G) c.*976T>G (n.*976T>G) c.1290T>G (p.Ile430Met) c.753T>G (p.Ile251Met) c.1032T>G (p.Ile344Met) c.-4294966216T>G c.-4294965937T>G c.954T>G (p.Ile318Met) | gnomAD v4 |
| 2 | g.232534307G>A | CA351005759 | CHRND | c.1336G>A (p.Val446Ile) c.*518G>A (n.*518G>A) c.*977G>A (n.*977G>A) c.1291G>A (p.Val431Ile) c.754G>A (p.Val252Ile) c.1033G>A (p.Val345Ile) c.-4294966215G>A c.-4294965936G>A c.955G>A (p.Val319Ile) | |
| 2 | g.232534307G>C | CA351005763 | CHRND | c.1336G>C (p.Val446Leu) c.*518G>C (n.*518G>C) c.*977G>C (n.*977G>C) c.1291G>C (p.Val431Leu) c.754G>C (p.Val252Leu) c.1033G>C (p.Val345Leu) c.-4294966215G>C c.-4294965936G>C c.955G>C (p.Val319Leu) | |
| 2 | g.232534307G>T | CA351005761 | CHRND | c.1336G>T (p.Val446Phe) c.*518G>T (n.*518G>T) c.*977G>T (n.*977G>T) c.1291G>T (p.Val431Phe) c.754G>T (p.Val252Phe) c.1033G>T (p.Val345Phe) c.-4294966215G>T c.-4294965936G>T c.955G>T (p.Val319Phe) | |
| 2 | g.232534308T>A | CA351005766 | CHRND | c.1337T>A (p.Val446Asp) c.*519T>A (n.*519T>A) c.*978T>A (n.*978T>A) c.1292T>A (p.Val431Asp) c.755T>A (p.Val252Asp) c.1034T>A (p.Val345Asp) c.-4294966214T>A c.-4294965935T>A c.956T>A (p.Val319Asp) | |
| 2 | g.232534308T>C | CA351005767 | CHRND | c.1337T>C (p.Val446Ala) c.*519T>C (n.*519T>C) c.*978T>C (n.*978T>C) c.1292T>C (p.Val431Ala) c.755T>C (p.Val252Ala) c.1034T>C (p.Val345Ala) c.-4294966214T>C c.-4294965935T>C c.956T>C (p.Val319Ala) | |
| 2 | g.232534308T>G | CA351005769 | CHRND | c.1337T>G (p.Val446Gly) c.*519T>G (n.*519T>G) c.*978T>G (n.*978T>G) c.1292T>G (p.Val431Gly) c.755T>G (p.Val252Gly) c.1034T>G (p.Val345Gly) c.-4294966214T>G c.-4294965935T>G c.956T>G (p.Val319Gly) | |
| 2 | g.232534309T>A | CA431952477 | CHRND | c.1338T>A (p.Val446=) c.*520T>A (n.*520T>A) c.*979T>A (n.*979T>A) c.1293T>A (p.Val431=) c.756T>A (p.Val252=) c.1035T>A (p.Val345=) c.-4294966213T>A c.-4294965934T>A c.957T>A (p.Val319=) | |
| 2 | g.232534309T>C | CA431952480 | CHRND | c.1338T>C (p.Val446=) c.*520T>C (n.*520T>C) c.*979T>C (n.*979T>C) c.1293T>C (p.Val431=) c.756T>C (p.Val252=) c.1035T>C (p.Val345=) c.-4294966213T>C c.-4294965934T>C c.957T>C (p.Val319=) | |
| 2 | g.232534309T>G | CA431952479 | CHRND | c.1338T>G (p.Val446=) c.*520T>G (n.*520T>G) c.*979T>G (n.*979T>G) c.1293T>G (p.Val431=) c.756T>G (p.Val252=) c.1035T>G (p.Val345=) c.-4294966213T>G c.-4294965934T>G c.957T>G (p.Val319=) | |
| 2 | g.232534310A= | CA1335314101 | CHRND | c.1339A= (p.Asn447=) c.*521A= (n.*521A=) c.*980A= (n.*980A=) c.1294A= (p.Asn432=) c.757A= (p.Asn253=) c.1036A= (p.Asn346=) c.-4294966212A= c.-4294965933A= c.958A= (p.Asn320=) | |
| 2 | g.232534310A>C | CA2168325 | CHRND | c.1339A>C (p.Asn447His) c.*521A>C (n.*521A>C) c.*980A>C (n.*980A>C) c.1294A>C (p.Asn432His) c.757A>C (p.Asn253His) c.1036A>C (p.Asn346His) c.-4294966212A>C c.-4294965933A>C c.958A>C (p.Asn320His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.232534310A>G | CA351005772 | CHRND | c.1339A>G (p.Asn447Asp) c.*521A>G (n.*521A>G) c.*980A>G (n.*980A>G) c.1294A>G (p.Asn432Asp) c.757A>G (p.Asn253Asp) c.1036A>G (p.Asn346Asp) c.-4294966212A>G c.-4294965933A>G c.958A>G (p.Asn320Asp) | |
| 2 | g.232534310A>T | CA351005774 | CHRND | c.1339A>T (p.Asn447Tyr) c.*521A>T (n.*521A>T) c.*980A>T (n.*980A>T) c.1294A>T (p.Asn432Tyr) c.757A>T (p.Asn253Tyr) c.1036A>T (p.Asn346Tyr) c.-4294966212A>T c.-4294965933A>T c.958A>T (p.Asn320Tyr) | |
| 2 | g.232534311A>C | CA351005777 | CHRND | c.1340A>C (p.Asn447Thr) c.*522A>C (n.*522A>C) c.*981A>C (n.*981A>C) c.1295A>C (p.Asn432Thr) c.758A>C (p.Asn253Thr) c.1037A>C (p.Asn346Thr) c.-4294966211A>C c.-4294965932A>C c.959A>C (p.Asn320Thr) | |
| 2 | g.232534311A>G | CA351005778 | CHRND | c.1340A>G (p.Asn447Ser) c.*522A>G (n.*522A>G) c.*981A>G (n.*981A>G) c.1295A>G (p.Asn432Ser) c.758A>G (p.Asn253Ser) c.1037A>G (p.Asn346Ser) c.-4294966211A>G c.-4294965932A>G c.959A>G (p.Asn320Ser) | |
| 2 | g.232534311A>T | CA351005780 | CHRND | c.1340A>T (p.Asn447Ile) c.*522A>T (n.*522A>T) c.*981A>T (n.*981A>T) c.1295A>T (p.Asn432Ile) c.758A>T (p.Asn253Ile) c.1037A>T (p.Asn346Ile) c.-4294966211A>T c.-4294965932A>T c.959A>T (p.Asn320Ile) | |
| 2 | g.232534312C>A | CA351005786 | CHRND | c.1341C>A (p.Asn447Lys) c.*523C>A (n.*523C>A) c.*982C>A (n.*982C>A) c.1296C>A (p.Asn432Lys) c.759C>A (p.Asn253Lys) c.1038C>A (p.Asn346Lys) c.-4294966210C>A c.-4294965931C>A c.960C>A (p.Asn320Lys) | gnomAD v4 COSMIC |
| 2 | g.232534312C>G | CA351005788 | CHRND | c.1341C>G (p.Asn447Lys) c.*523C>G (n.*523C>G) c.*982C>G (n.*982C>G) c.1296C>G (p.Asn432Lys) c.759C>G (p.Asn253Lys) c.1038C>G (p.Asn346Lys) c.-4294966210C>G c.-4294965931C>G c.960C>G (p.Asn320Lys) | |
| 2 | g.232534312C>T | CA431952484 | CHRND | c.1341C>T (p.Asn447=) c.*523C>T (n.*523C>T) c.*982C>T (n.*982C>T) c.1296C>T (p.Asn432=) c.759C>T (p.Asn253=) c.1038C>T (p.Asn346=) c.-4294966210C>T c.-4294965931C>T c.960C>T (p.Asn320=) | gnomAD v4 |
| 2 | g.232534313C>A | CA351005791 | CHRND | c.1342C>A (p.His448Asn) c.*524C>A (n.*524C>A) c.*983C>A (n.*983C>A) c.1297C>A (p.His433Asn) c.760C>A (p.His254Asn) c.1039C>A (p.His347Asn) c.-4294966209C>A c.-4294965930C>A c.961C>A (p.His321Asn) | |
| 2 | g.232534313C>G | CA351005793 | CHRND | c.1342C>G (p.His448Asp) c.*524C>G (n.*524C>G) c.*983C>G (n.*983C>G) c.1297C>G (p.His433Asp) c.760C>G (p.His254Asp) c.1039C>G (p.His347Asp) c.-4294966209C>G c.-4294965930C>G c.961C>G (p.His321Asp) | |
| 2 | g.232534313C>T | CA351005792 | CHRND | c.1342C>T (p.His448Tyr) c.*524C>T (n.*524C>T) c.*983C>T (n.*983C>T) c.1297C>T (p.His433Tyr) c.760C>T (p.His254Tyr) c.1039C>T (p.His347Tyr) c.-4294966209C>T c.-4294965930C>T c.961C>T (p.His321Tyr) | gnomAD v4 |
| 2 | g.232534314A>C | CA351005794 | CHRND | c.1343A>C (p.His448Pro) c.*525A>C (n.*525A>C) c.*984A>C (n.*984A>C) c.1298A>C (p.His433Pro) c.761A>C (p.His254Pro) c.1040A>C (p.His347Pro) c.-4294966208A>C c.-4294965929A>C c.962A>C (p.His321Pro) | |
| 2 | g.232534314A>G | CA351005796 | CHRND | c.1343A>G (p.His448Arg) c.*525A>G (n.*525A>G) c.*984A>G (n.*984A>G) c.1298A>G (p.His433Arg) c.761A>G (p.His254Arg) c.1040A>G (p.His347Arg) c.-4294966208A>G c.-4294965929A>G c.962A>G (p.His321Arg) | |
| 2 | g.232534314A>T | CA351005795 | CHRND | c.1343A>T (p.His448Leu) c.*525A>T (n.*525A>T) c.*984A>T (n.*984A>T) c.1298A>T (p.His433Leu) c.761A>T (p.His254Leu) c.1040A>T (p.His347Leu) c.-4294966208A>T c.-4294965929A>T c.962A>T (p.His321Leu) | gnomAD v3 gnomAD v4 |
| 2 | g.232534315C>A | CA351005797 | CHRND | c.1344C>A (p.His448Gln) c.*526C>A (n.*526C>A) c.*985C>A (n.*985C>A) c.1299C>A (p.His433Gln) c.762C>A (p.His254Gln) c.1041C>A (p.His347Gln) c.-4294966207C>A c.-4294965928C>A c.963C>A (p.His321Gln) | |
| 2 | g.232534315C>G | CA351005798 | CHRND | c.1344C>G (p.His448Gln) c.*526C>G (n.*526C>G) c.*985C>G (n.*985C>G) c.1299C>G (p.His433Gln) c.762C>G (p.His254Gln) c.1041C>G (p.His347Gln) c.-4294966207C>G c.-4294965928C>G c.963C>G (p.His321Gln) | |
| 2 | g.232534315C>T | CA431952485 | CHRND | c.1344C>T (p.His448=) c.*526C>T (n.*526C>T) c.*985C>T (n.*985C>T) c.1299C>T (p.His433=) c.762C>T (p.His254=) c.1041C>T (p.His347=) c.-4294966207C>T c.-4294965928C>T c.963C>T (p.His321=) | |
| 2 | g.232534315_232534317delinsCAT | CA1335314102 | CHRND | c.1344_1346delinsCAT (p.His448=) c.*526_*528delinsCAT (n.*526_*528delinsCAT) c.*985_*987delinsCAT (n.*985_*987delinsCAT) c.1299_1301delinsCAT (p.His433=) c.762_764delinsCAT (p.His254=) c.1041_1043delinsCAT (p.His347=) c.-4294966207_-4294966205delinsCAT c.-4294965928_-4294965926delinsCAT c.963_965delinsCAT (p.His321=) | |
| 2 | g.232534316A>C | CA351005799 | CHRND | c.1345A>C (p.Met449Leu) c.*527A>C (n.*527A>C) c.*986A>C (n.*986A>C) c.1300A>C (p.Met434Leu) c.763A>C (p.Met255Leu) c.1042A>C (p.Met348Leu) c.-4294966206A>C c.-4294965927A>C c.964A>C (p.Met322Leu) | |
| 2 | g.232534316A>G | CA351005800 | CHRND | c.1345A>G (p.Met449Val) c.*527A>G (n.*527A>G) c.*986A>G (n.*986A>G) c.1300A>G (p.Met434Val) c.763A>G (p.Met255Val) c.1042A>G (p.Met348Val) c.-4294966206A>G c.-4294965927A>G c.964A>G (p.Met322Val) | |
| 2 | g.232534316A>T | CA351005801 | CHRND | c.1345A>T (p.Met449Leu) c.*527A>T (n.*527A>T) c.*986A>T (n.*986A>T) c.1300A>T (p.Met434Leu) c.763A>T (p.Met255Leu) c.1042A>T (p.Met348Leu) c.-4294966206A>T c.-4294965927A>T c.964A>T (p.Met322Leu) | |
| 2 | g.232534316_232534317del | CA658796206 | CHRND | c.1345_1346del (p.Met449GlufsTer8) c.*527_*528del (n.*527_*528del) c.*986_*987del (n.*986_*987del) c.1300_1301del (p.Met434GlufsTer8) c.763_764del (p.Met255GlufsTer8) c.1042_1043del (p.Met348GlufsTer8) c.-4294966206_-4294966205del c.-4294965927_-4294965926del c.964_965del (p.Met322GlufsTer8) | ClinVar dbSNP |
| 2 | g.232534317T>A | CA351005802 | CHRND | c.1346T>A (p.Met449Lys) c.*528T>A (n.*528T>A) c.*987T>A (n.*987T>A) c.1301T>A (p.Met434Lys) c.764T>A (p.Met255Lys) c.1043T>A (p.Met348Lys) c.-4294966205T>A c.-4294965926T>A c.965T>A (p.Met322Lys) | |
| 2 | g.232534317T>C | CA351005803 | CHRND | c.1346T>C (p.Met449Thr) c.*528T>C (n.*528T>C) c.*987T>C (n.*987T>C) c.1301T>C (p.Met434Thr) c.764T>C (p.Met255Thr) c.1043T>C (p.Met348Thr) c.-4294966205T>C c.-4294965926T>C c.965T>C (p.Met322Thr) | |
| 2 | g.232534317T>G | CA351005804 | CHRND | c.1346T>G (p.Met449Arg) c.*528T>G (n.*528T>G) c.*987T>G (n.*987T>G) c.1301T>G (p.Met434Arg) c.764T>G (p.Met255Arg) c.1043T>G (p.Met348Arg) c.-4294966205T>G c.-4294965926T>G c.965T>G (p.Met322Arg) | |
| 2 | g.232534317dup | CA2577278167 | CHRND | c.1346dup (p.Met449IlefsTer9) c.*528dup (n.*528dup) c.*987dup (n.*987dup) c.1301dup (p.Met434IlefsTer9) c.764dup (p.Met255IlefsTer9) c.1043dup (p.Met348IlefsTer9) c.-4294966205dup c.-4294965926dup c.965dup (p.Met322IlefsTer9) | |
| 2 | g.232534318G>A | CA351005805 | CHRND | c.1347G>A (p.Met449Ile) c.*529G>A (n.*529G>A) c.*988G>A (n.*988G>A) c.1302G>A (p.Met434Ile) c.765G>A (p.Met255Ile) c.1044G>A (p.Met348Ile) c.-4294966204G>A c.-4294965925G>A c.966G>A (p.Met322Ile) | ClinVar COSMIC |
| 2 | g.232534318G>C | CA351005806 | CHRND | c.1347G>C (p.Met449Ile) c.*529G>C (n.*529G>C) c.*988G>C (n.*988G>C) c.1302G>C (p.Met434Ile) c.765G>C (p.Met255Ile) c.1044G>C (p.Met348Ile) c.-4294966204G>C c.-4294965925G>C c.966G>C (p.Met322Ile) | |
| 2 | g.232534318G>T | CA351005807 | CHRND | c.1347G>T (p.Met449Ile) c.*529G>T (n.*529G>T) c.*988G>T (n.*988G>T) c.1302G>T (p.Met434Ile) c.765G>T (p.Met255Ile) c.1044G>T (p.Met348Ile) c.-4294966204G>T c.-4294965925G>T c.966G>T (p.Met322Ile) | |
| 2 | g.232534319A>C | CA431952486 | CHRND | c.1348A>C (p.Arg450=) c.*530A>C (n.*530A>C) c.*989A>C (n.*989A>C) c.1303A>C (p.Arg435=) c.766A>C (p.Arg256=) c.1045A>C (p.Arg349=) c.-4294966203A>C c.-4294965924A>C c.967A>C (p.Arg323=) | |
| 2 | g.232534319A>G | CA351005809 | CHRND | c.1348A>G (p.Arg450Gly) c.*530A>G (n.*530A>G) c.*989A>G (n.*989A>G) c.1303A>G (p.Arg435Gly) c.766A>G (p.Arg256Gly) c.1045A>G (p.Arg349Gly) c.-4294966203A>G c.-4294965924A>G c.967A>G (p.Arg323Gly) | |
| 2 | g.232534319A>T | CA351005808 | CHRND | c.1348A>T (p.Arg450Trp) c.*530A>T (n.*530A>T) c.*989A>T (n.*989A>T) c.1303A>T (p.Arg435Trp) c.766A>T (p.Arg256Trp) c.1045A>T (p.Arg349Trp) c.-4294966203A>T c.-4294965924A>T c.967A>T (p.Arg323Trp) | |
| 2 | g.232534320G>A | CA351005810 | CHRND | c.1349G>A (p.Arg450Lys) c.*531G>A (n.*531G>A) c.*990G>A (n.*990G>A) c.1304G>A (p.Arg435Lys) c.767G>A (p.Arg256Lys) c.1046G>A (p.Arg349Lys) c.-4294966202G>A c.-4294965923G>A c.968G>A (p.Arg323Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232534320G>C | CA351005811 | CHRND | c.1349G>C (p.Arg450Thr) c.*531G>C (n.*531G>C) c.*990G>C (n.*990G>C) c.1304G>C (p.Arg435Thr) c.767G>C (p.Arg256Thr) c.1046G>C (p.Arg349Thr) c.-4294966202G>C c.-4294965923G>C c.968G>C (p.Arg323Thr) | |
| 2 | g.232534320G= | CA1335314103 | CHRND | c.1349G= (p.Arg450=) c.*531G= (n.*531G=) c.*990G= (n.*990G=) c.1304G= (p.Arg435=) c.767G= (p.Arg256=) c.1046G= (p.Arg349=) c.-4294966202G= c.-4294965923G= c.968G= (p.Arg323=) | |
| 2 | g.232534320G>T | CA351005812 | CHRND | c.1349G>T (p.Arg450Met) c.*531G>T (n.*531G>T) c.*990G>T (n.*990G>T) c.1304G>T (p.Arg435Met) c.767G>T (p.Arg256Met) c.1046G>T (p.Arg349Met) c.-4294966202G>T c.-4294965923G>T c.968G>T (p.Arg323Met) | |
| 2 | g.232534321G>A | CA431952487 | CHRND | c.1350G>A (p.Arg450=) c.*532G>A (n.*532G>A) c.*991G>A (n.*991G>A) c.1305G>A (p.Arg435=) c.768G>A (p.Arg256=) c.1047G>A (p.Arg349=) c.-4294966201G>A c.-4294965922G>A c.969G>A (p.Arg323=) | |
| 2 | g.232534321G>C | CA351005813 | CHRND | c.1350G>C (p.Arg450Ser) c.*532G>C (n.*532G>C) c.*991G>C (n.*991G>C) c.1305G>C (p.Arg435Ser) c.768G>C (p.Arg256Ser) c.1047G>C (p.Arg349Ser) c.-4294966201G>C c.-4294965922G>C c.969G>C (p.Arg323Ser) | |
| 2 | g.232534321G>T | CA351005814 | CHRND | c.1350G>T (p.Arg450Ser) c.*532G>T (n.*532G>T) c.*991G>T (n.*991G>T) c.1305G>T (p.Arg435Ser) c.768G>T (p.Arg256Ser) c.1047G>T (p.Arg349Ser) c.-4294966201G>T c.-4294965922G>T c.969G>T (p.Arg323Ser) | |
| 2 | g.232534322G>A | CA351005815 | CHRND | c.1351G>A (p.Asp451Asn) c.*533G>A (n.*533G>A) c.*992G>A (n.*992G>A) c.1306G>A (p.Asp436Asn) c.769G>A (p.Asp257Asn) c.1048G>A (p.Asp350Asn) c.-4294966200G>A c.-4294965921G>A c.970G>A (p.Asp324Asn) | gnomAD v4 COSMIC |
| 2 | g.232534322G>C | CA351005816 | CHRND | c.1351G>C (p.Asp451His) c.*533G>C (n.*533G>C) c.*992G>C (n.*992G>C) c.1306G>C (p.Asp436His) c.769G>C (p.Asp257His) c.1048G>C (p.Asp350His) c.-4294966200G>C c.-4294965921G>C c.970G>C (p.Asp324His) | COSMIC |
| 2 | g.232534322G>T | CA351005817 | CHRND | c.1351G>T (p.Asp451Tyr) c.*533G>T (n.*533G>T) c.*992G>T (n.*992G>T) c.1306G>T (p.Asp436Tyr) c.769G>T (p.Asp257Tyr) c.1048G>T (p.Asp350Tyr) c.-4294966200G>T c.-4294965921G>T c.970G>T (p.Asp324Tyr) | gnomAD v4 |
| 2 | g.232534323A= | CA1335314104 | CHRND | c.1352A= (p.Asp451=) c.*534A= (n.*534A=) c.*993A= (n.*993A=) c.1307A= (p.Asp436=) c.770A= (p.Asp257=) c.1049A= (p.Asp350=) c.-4294966199A= c.-4294965920A= c.971A= (p.Asp324=) | |
| 2 | g.232534323A>C | CA351005818 | CHRND | c.1352A>C (p.Asp451Ala) c.*534A>C (n.*534A>C) c.*993A>C (n.*993A>C) c.1307A>C (p.Asp436Ala) c.770A>C (p.Asp257Ala) c.1049A>C (p.Asp350Ala) c.-4294966199A>C c.-4294965920A>C c.971A>C (p.Asp324Ala) | |
| 2 | g.232534323A>G | CA2168326 | CHRND | c.1352A>G (p.Asp451Gly) c.*534A>G (n.*534A>G) c.*993A>G (n.*993A>G) c.1307A>G (p.Asp436Gly) c.770A>G (p.Asp257Gly) c.1049A>G (p.Asp350Gly) c.-4294966199A>G c.-4294965920A>G c.971A>G (p.Asp324Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534323A>T | CA351005819 | CHRND | c.1352A>T (p.Asp451Val) c.*534A>T (n.*534A>T) c.*993A>T (n.*993A>T) c.1307A>T (p.Asp436Val) c.770A>T (p.Asp257Val) c.1049A>T (p.Asp350Val) c.-4294966199A>T c.-4294965920A>T c.971A>T (p.Asp324Val) | |
| 2 | g.232534324C>A | CA351005821 | CHRND | c.1353C>A (p.Asp451Glu) c.*535C>A (n.*535C>A) c.*994C>A (n.*994C>A) c.1308C>A (p.Asp436Glu) c.771C>A (p.Asp257Glu) c.1050C>A (p.Asp350Glu) c.-4294966198C>A c.-4294965919C>A c.972C>A (p.Asp324Glu) | |
| 2 | g.232534324C>G | CA351005820 | CHRND | c.1353C>G (p.Asp451Glu) c.*535C>G (n.*535C>G) c.*994C>G (n.*994C>G) c.1308C>G (p.Asp436Glu) c.771C>G (p.Asp257Glu) c.1050C>G (p.Asp350Glu) c.-4294966198C>G c.-4294965919C>G c.972C>G (p.Asp324Glu) | |
| 2 | g.232534324C>T | CA431952490 | CHRND | c.1353C>T (p.Asp451=) c.*535C>T (n.*535C>T) c.*994C>T (n.*994C>T) c.1308C>T (p.Asp436=) c.771C>T (p.Asp257=) c.1050C>T (p.Asp350=) c.-4294966198C>T c.-4294965919C>T c.972C>T (p.Asp324=) | |
| 2 | g.232534325C>A | CA351005822 | CHRND | c.1354C>A (p.Gln452Lys) c.*536C>A (n.*536C>A) c.*995C>A (n.*995C>A) c.1309C>A (p.Gln437Lys) c.772C>A (p.Gln258Lys) c.1051C>A (p.Gln351Lys) c.-4294966197C>A c.-4294965918C>A c.973C>A (p.Gln325Lys) | |
| 2 | g.232534325C>G | CA351005823 | CHRND | c.1354C>G (p.Gln452Glu) c.*536C>G (n.*536C>G) c.*995C>G (n.*995C>G) c.1309C>G (p.Gln437Glu) c.772C>G (p.Gln258Glu) c.1051C>G (p.Gln351Glu) c.-4294966197C>G c.-4294965918C>G c.973C>G (p.Gln325Glu) | |
| 2 | g.232534325C>T | CA351005824 | CHRND | c.1354C>T (p.Gln452Ter) c.*536C>T (n.*536C>T) c.*995C>T (n.*995C>T) c.1309C>T (p.Gln437Ter) c.772C>T (p.Gln258Ter) c.1051C>T (p.Gln351Ter) c.-4294966197C>T c.-4294965918C>T c.973C>T (p.Gln325Ter) | gnomAD v4 |
| 2 | g.232534326A>C | CA351005825 | CHRND | c.1355A>C (p.Gln452Pro) c.*537A>C (n.*537A>C) c.*996A>C (n.*996A>C) c.1310A>C (p.Gln437Pro) c.773A>C (p.Gln258Pro) c.1052A>C (p.Gln351Pro) c.-4294966196A>C c.-4294965917A>C c.974A>C (p.Gln325Pro) | |
| 2 | g.232534326A>G | CA351005826 | CHRND | c.1355A>G (p.Gln452Arg) c.*537A>G (n.*537A>G) c.*996A>G (n.*996A>G) c.1310A>G (p.Gln437Arg) c.773A>G (p.Gln258Arg) c.1052A>G (p.Gln351Arg) c.-4294966196A>G c.-4294965917A>G c.974A>G (p.Gln325Arg) | |
| 2 | g.232534326A>T | CA351005827 | CHRND | c.1355A>T (p.Gln452Leu) c.*537A>T (n.*537A>T) c.*996A>T (n.*996A>T) c.1310A>T (p.Gln437Leu) c.773A>T (p.Gln258Leu) c.1052A>T (p.Gln351Leu) c.-4294966196A>T c.-4294965917A>T c.974A>T (p.Gln325Leu) | |
| 2 | g.232534327G>A | CA431952493 | CHRND | c.1356G>A (p.Gln452=) c.*538G>A (n.*538G>A) c.*997G>A (n.*997G>A) c.1311G>A (p.Gln437=) c.774G>A (p.Gln258=) c.1053G>A (p.Gln351=) c.-4294966195G>A c.-4294965916G>A c.975G>A (p.Gln325=) | dbSNP gnomAD v4 |
| 2 | g.232534327G>C | CA351005829 | CHRND | c.1356G>C (p.Gln452His) c.*538G>C (n.*538G>C) c.*997G>C (n.*997G>C) c.1311G>C (p.Gln437His) c.774G>C (p.Gln258His) c.1053G>C (p.Gln351His) c.-4294966195G>C c.-4294965916G>C c.975G>C (p.Gln325His) | dbSNP gnomAD v2 |
| 2 | g.232534327G= | CA1335314105 | CHRND | c.1356G= (p.Gln452=) c.*538G= (n.*538G=) c.*997G= (n.*997G=) c.1311G= (p.Gln437=) c.774G= (p.Gln258=) c.1053G= (p.Gln351=) c.-4294966195G= c.-4294965916G= c.975G= (p.Gln325=) | |
| 2 | g.232534327G>T | CA351005828 | CHRND | c.1356G>T (p.Gln452His) c.*538G>T (n.*538G>T) c.*997G>T (n.*997G>T) c.1311G>T (p.Gln437His) c.774G>T (p.Gln258His) c.1053G>T (p.Gln351His) c.-4294966195G>T c.-4294965916G>T c.975G>T (p.Gln325His) | |
| 2 | g.232534328A>C | CA351005830 | CHRND | c.1357A>C (p.Asn453His) c.*539A>C (n.*539A>C) c.*998A>C (n.*998A>C) c.1312A>C (p.Asn438His) c.775A>C (p.Asn259His) c.1054A>C (p.Asn352His) c.-4294966194A>C c.-4294965915A>C c.976A>C (p.Asn326His) | |
| 2 | g.232534328A>G | CA351005831 | CHRND | c.1357A>G (p.Asn453Asp) c.*539A>G (n.*539A>G) c.*998A>G (n.*998A>G) c.1312A>G (p.Asn438Asp) c.775A>G (p.Asn259Asp) c.1054A>G (p.Asn352Asp) c.-4294966194A>G c.-4294965915A>G c.976A>G (p.Asn326Asp) | |
| 2 | g.232534328A>T | CA351005832 | CHRND | c.1357A>T (p.Asn453Tyr) c.*539A>T (n.*539A>T) c.*998A>T (n.*998A>T) c.1312A>T (p.Asn438Tyr) c.775A>T (p.Asn259Tyr) c.1054A>T (p.Asn352Tyr) c.-4294966194A>T c.-4294965915A>T c.976A>T (p.Asn326Tyr) | |
| 2 | g.232534329A>C | CA351005833 | CHRND | c.1358A>C (p.Asn453Thr) c.*540A>C (n.*540A>C) c.*999A>C (n.*999A>C) c.1313A>C (p.Asn438Thr) c.776A>C (p.Asn259Thr) c.1055A>C (p.Asn352Thr) c.-4294966193A>C c.-4294965914A>C c.977A>C (p.Asn326Thr) | |
| 2 | g.232534329A>G | CA351005834 | CHRND | c.1358A>G (p.Asn453Ser) c.*540A>G (n.*540A>G) c.*999A>G (n.*999A>G) c.1313A>G (p.Asn438Ser) c.776A>G (p.Asn259Ser) c.1055A>G (p.Asn352Ser) c.-4294966193A>G c.-4294965914A>G c.977A>G (p.Asn326Ser) | |
| 2 | g.232534329A>T | CA351005835 | CHRND | c.1358A>T (p.Asn453Ile) c.*540A>T (n.*540A>T) c.*999A>T (n.*999A>T) c.1313A>T (p.Asn438Ile) c.776A>T (p.Asn259Ile) c.1055A>T (p.Asn352Ile) c.-4294966193A>T c.-4294965914A>T c.977A>T (p.Asn326Ile) | |
| 2 | g.232534330C>A | CA351005836 | CHRND | c.1359C>A (p.Asn453Lys) c.*541C>A (n.*541C>A) c.*1000C>A (n.*1000C>A) c.1314C>A (p.Asn438Lys) c.777C>A (p.Asn259Lys) c.1056C>A (p.Asn352Lys) c.-4294966192C>A c.-4294965913C>A c.978C>A (p.Asn326Lys) | dbSNP |
| 2 | g.232534330C= | CA1335314106 | CHRND | c.1359C= (p.Asn453=) c.*541C= (n.*541C=) c.*1000C= (n.*1000C=) c.1314C= (p.Asn438=) c.777C= (p.Asn259=) c.1056C= (p.Asn352=) c.-4294966192C= c.-4294965913C= c.978C= (p.Asn326=) | |
| 2 | g.232534330C>G | CA351005837 | CHRND | c.1359C>G (p.Asn453Lys) c.*541C>G (n.*541C>G) c.*1000C>G (n.*1000C>G) c.1314C>G (p.Asn438Lys) c.777C>G (p.Asn259Lys) c.1056C>G (p.Asn352Lys) c.-4294966192C>G c.-4294965913C>G c.978C>G (p.Asn326Lys) | |
| 2 | g.232534330C>T | CA2168327 | CHRND | c.1359C>T (p.Asn453=) c.*541C>T (n.*541C>T) c.*1000C>T (n.*1000C>T) c.1314C>T (p.Asn438=) c.777C>T (p.Asn259=) c.1056C>T (p.Asn352=) c.-4294966192C>T c.-4294965913C>T c.978C>T (p.Asn326=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534331A= | CA1335314107 | CHRND | c.1360A= (p.Asn454=) c.*542A= (n.*542A=) c.*1001A= (n.*1001A=) c.1315A= (p.Asn439=) c.778A= (p.Asn260=) c.1057A= (p.Asn353=) c.-4294966191A= c.-4294965912A= c.979A= (p.Asn327=) | |
| 2 | g.232534331A>C | CA351005838 | CHRND | c.1360A>C (p.Asn454His) c.*542A>C (n.*542A>C) c.*1001A>C (n.*1001A>C) c.1315A>C (p.Asn439His) c.778A>C (p.Asn260His) c.1057A>C (p.Asn353His) c.-4294966191A>C c.-4294965912A>C c.979A>C (p.Asn327His) | gnomAD v4 |
| 2 | g.232534331A>G | CA2168328 | CHRND | c.1360A>G (p.Asn454Asp) c.*542A>G (n.*542A>G) c.*1001A>G (n.*1001A>G) c.1315A>G (p.Asn439Asp) c.778A>G (p.Asn260Asp) c.1057A>G (p.Asn353Asp) c.-4294966191A>G c.-4294965912A>G c.979A>G (p.Asn327Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.232534331A>T | CA351005839 | CHRND | c.1360A>T (p.Asn454Tyr) c.*542A>T (n.*542A>T) c.*1001A>T (n.*1001A>T) c.1315A>T (p.Asn439Tyr) c.778A>T (p.Asn260Tyr) c.1057A>T (p.Asn353Tyr) c.-4294966191A>T c.-4294965912A>T c.979A>T (p.Asn327Tyr) | |
| 2 | g.232534332A>C | CA351005840 | CHRND | c.1361A>C (p.Asn454Thr) c.*543A>C (n.*543A>C) c.*1002A>C (n.*1002A>C) c.1316A>C (p.Asn439Thr) c.779A>C (p.Asn260Thr) c.1058A>C (p.Asn353Thr) c.-4294966190A>C c.-4294965911A>C c.980A>C (p.Asn327Thr) | |
| 2 | g.232534332A>G | CA351005841 | CHRND | c.1361A>G (p.Asn454Ser) c.*543A>G (n.*543A>G) c.*1002A>G (n.*1002A>G) c.1316A>G (p.Asn439Ser) c.779A>G (p.Asn260Ser) c.1058A>G (p.Asn353Ser) c.-4294966190A>G c.-4294965911A>G c.980A>G (p.Asn327Ser) | |
| 2 | g.232534332A>T | CA351005842 | CHRND | c.1361A>T (p.Asn454Ile) c.*543A>T (n.*543A>T) c.*1002A>T (n.*1002A>T) c.1316A>T (p.Asn439Ile) c.779A>T (p.Asn260Ile) c.1058A>T (p.Asn353Ile) c.-4294966190A>T c.-4294965911A>T c.980A>T (p.Asn327Ile) | |
| 2 | g.232534333T>A | CA351005843 | CHRND | c.1362T>A (p.Asn454Lys) c.*544T>A (n.*544T>A) c.*1003T>A (n.*1003T>A) c.1317T>A (p.Asn439Lys) c.780T>A (p.Asn260Lys) c.1059T>A (p.Asn353Lys) c.-4294966189T>A c.-4294965910T>A c.981T>A (p.Asn327Lys) | |
| 2 | g.232534333T>C | CA431952498 | CHRND | c.1362T>C (p.Asn454=) c.*544T>C (n.*544T>C) c.*1003T>C (n.*1003T>C) c.1317T>C (p.Asn439=) c.780T>C (p.Asn260=) c.1059T>C (p.Asn353=) c.-4294966189T>C c.-4294965910T>C c.981T>C (p.Asn327=) | |
| 2 | g.232534333T>G | CA351005844 | CHRND | c.1362T>G (p.Asn454Lys) c.*544T>G (n.*544T>G) c.*1003T>G (n.*1003T>G) c.1317T>G (p.Asn439Lys) c.780T>G (p.Asn260Lys) c.1059T>G (p.Asn353Lys) c.-4294966189T>G c.-4294965910T>G c.981T>G (p.Asn327Lys) | |
| 2 | g.232534334T>A | CA351005845 | CHRND | c.1363T>A (p.Tyr455Asn) c.*545T>A (n.*545T>A) c.*1004T>A (n.*1004T>A) c.1318T>A (p.Tyr440Asn) c.781T>A (p.Tyr261Asn) c.1060T>A (p.Tyr354Asn) c.-4294966188T>A c.-4294965909T>A c.982T>A (p.Tyr328Asn) | |
| 2 | g.232534334T>C | CA351005846 | CHRND | c.1363T>C (p.Tyr455His) c.*545T>C (n.*545T>C) c.*1004T>C (n.*1004T>C) c.1318T>C (p.Tyr440His) c.781T>C (p.Tyr261His) c.1060T>C (p.Tyr354His) c.-4294966188T>C c.-4294965909T>C c.982T>C (p.Tyr328His) | |
| 2 | g.232534334T>G | CA351005847 | CHRND | c.1363T>G (p.Tyr455Asp) c.*545T>G (n.*545T>G) c.*1004T>G (n.*1004T>G) c.1318T>G (p.Tyr440Asp) c.781T>G (p.Tyr261Asp) c.1060T>G (p.Tyr354Asp) c.-4294966188T>G c.-4294965909T>G c.982T>G (p.Tyr328Asp) | |
| 2 | g.232534335A>C | CA351005849 | CHRND | c.1364A>C (p.Tyr455Ser) c.*546A>C (n.*546A>C) c.*1005A>C (n.*1005A>C) c.1319A>C (p.Tyr440Ser) c.782A>C (p.Tyr261Ser) c.1061A>C (p.Tyr354Ser) c.-4294966187A>C c.-4294965908A>C c.983A>C (p.Tyr328Ser) | |
| 2 | g.232534335A>G | CA351005850 | CHRND | c.1364A>G (p.Tyr455Cys) c.*546A>G (n.*546A>G) c.*1005A>G (n.*1005A>G) c.1319A>G (p.Tyr440Cys) c.782A>G (p.Tyr261Cys) c.1061A>G (p.Tyr354Cys) c.-4294966187A>G c.-4294965908A>G c.983A>G (p.Tyr328Cys) | |
| 2 | g.232534335A>T | CA351005848 | CHRND | c.1364A>T (p.Tyr455Phe) c.*546A>T (n.*546A>T) c.*1005A>T (n.*1005A>T) c.1319A>T (p.Tyr440Phe) c.782A>T (p.Tyr261Phe) c.1061A>T (p.Tyr354Phe) c.-4294966187A>T c.-4294965908A>T c.983A>T (p.Tyr328Phe) | |
| 2 | g.232534336C>A | CA351005852 | CHRND | c.1365C>A (p.Tyr455Ter) c.*547C>A (n.*547C>A) c.*1006C>A (n.*1006C>A) c.1320C>A (p.Tyr440Ter) c.783C>A (p.Tyr261Ter) c.1062C>A (p.Tyr354Ter) c.-4294966186C>A c.-4294965907C>A c.984C>A (p.Tyr328Ter) | |
| 2 | g.232534336C>G | CA351005851 | CHRND | c.1365C>G (p.Tyr455Ter) c.*547C>G (n.*547C>G) c.*1006C>G (n.*1006C>G) c.1320C>G (p.Tyr440Ter) c.783C>G (p.Tyr261Ter) c.1062C>G (p.Tyr354Ter) c.-4294966186C>G c.-4294965907C>G c.984C>G (p.Tyr328Ter) | |
| 2 | g.232534336C>T | CA431952499 | CHRND | c.1365C>T (p.Tyr455=) c.*547C>T (n.*547C>T) c.*1006C>T (n.*1006C>T) c.1320C>T (p.Tyr440=) c.783C>T (p.Tyr261=) c.1062C>T (p.Tyr354=) c.-4294966186C>T c.-4294965907C>T c.984C>T (p.Tyr328=) | |
| 2 | g.232534336_232534337delinsCA | CA1335314108 | CHRND | c.1365_1366delinsCA (p.Tyr455=) c.*547_*548delinsCA (n.*547_*548delinsCA) c.*1006_*1007delinsCA (n.*1006_*1007delinsCA) c.1320_1321delinsCA (p.Tyr440=) c.783_784delinsCA (p.Tyr261=) c.1062_1063delinsCA (p.Tyr354=) c.-4294966186_-4294966185delinsCA c.-4294965907_-4294965906delinsCA c.984_985delinsCA (p.Tyr328=) | |
| 2 | g.232534337A>C | CA351005855 | CHRND | c.1366A>C (p.Asn456His) c.*548A>C (n.*548A>C) c.*1007A>C (n.*1007A>C) c.1321A>C (p.Asn441His) c.784A>C (p.Asn262His) c.1063A>C (p.Asn355His) c.-4294966185A>C c.-4294965906A>C c.985A>C (p.Asn329His) | |
| 2 | g.232534337A>G | CA351005853 | CHRND | c.1366A>G (p.Asn456Asp) c.*548A>G (n.*548A>G) c.*1007A>G (n.*1007A>G) c.1321A>G (p.Asn441Asp) c.784A>G (p.Asn262Asp) c.1063A>G (p.Asn355Asp) c.-4294966185A>G c.-4294965906A>G c.985A>G (p.Asn329Asp) | |
| 2 | g.232534337A>T | CA351005854 | CHRND | c.1366A>T (p.Asn456Tyr) c.*548A>T (n.*548A>T) c.*1007A>T (n.*1007A>T) c.1321A>T (p.Asn441Tyr) c.784A>T (p.Asn262Tyr) c.1063A>T (p.Asn355Tyr) c.-4294966185A>T c.-4294965906A>T c.985A>T (p.Asn329Tyr) | ClinVar gnomAD v4 |
| 2 | g.232534338del | CA2168329 | CHRND | c.1367del (p.Asn456MetfsTer22) c.*549del (n.*549del) c.*1008del (n.*1008del) c.1322del (p.Asn441MetfsTer22) c.785del (p.Asn262MetfsTer22) c.1064del (p.Asn355MetfsTer22) c.-4294966184del c.-4294965905del c.986del (p.Asn329MetfsTer22) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534338A= | CA1335314109 | CHRND | c.1367A= (p.Asn456=) c.*549A= (n.*549A=) c.*1008A= (n.*1008A=) c.1322A= (p.Asn441=) c.785A= (p.Asn262=) c.1064A= (p.Asn355=) c.-4294966184A= c.-4294965905A= c.986A= (p.Asn329=) | |
| 2 | g.232534338A>C | CA351005856 | CHRND | c.1367A>C (p.Asn456Thr) c.*549A>C (n.*549A>C) c.*1008A>C (n.*1008A>C) c.1322A>C (p.Asn441Thr) c.785A>C (p.Asn262Thr) c.1064A>C (p.Asn355Thr) c.-4294966184A>C c.-4294965905A>C c.986A>C (p.Asn329Thr) | |
| 2 | g.232534338A>G | CA2168330 | CHRND | c.1367A>G (p.Asn456Ser) c.*549A>G (n.*549A>G) c.*1008A>G (n.*1008A>G) c.1322A>G (p.Asn441Ser) c.785A>G (p.Asn262Ser) c.1064A>G (p.Asn355Ser) c.-4294966184A>G c.-4294965905A>G c.986A>G (p.Asn329Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534338A>T | CA351005857 | CHRND | c.1367A>T (p.Asn456Ile) c.*549A>T (n.*549A>T) c.*1008A>T (n.*1008A>T) c.1322A>T (p.Asn441Ile) c.785A>T (p.Asn262Ile) c.1064A>T (p.Asn355Ile) c.-4294966184A>T c.-4294965905A>T c.986A>T (p.Asn329Ile) | |
| 2 | g.232534339T>A | CA351005858 | CHRND | c.1368T>A (p.Asn456Lys) c.*550T>A (n.*550T>A) c.*1009T>A (n.*1009T>A) c.1323T>A (p.Asn441Lys) c.786T>A (p.Asn262Lys) c.1065T>A (p.Asn355Lys) c.-4294966183T>A c.-4294965904T>A c.987T>A (p.Asn329Lys) | |
| 2 | g.232534339T>C | CA431952503 | CHRND | c.1368T>C (p.Asn456=) c.*550T>C (n.*550T>C) c.*1009T>C (n.*1009T>C) c.1323T>C (p.Asn441=) c.786T>C (p.Asn262=) c.1065T>C (p.Asn355=) c.-4294966183T>C c.-4294965904T>C c.987T>C (p.Asn329=) | gnomAD v4 |
| 2 | g.232534339T>G | CA351005859 | CHRND | c.1368T>G (p.Asn456Lys) c.*550T>G (n.*550T>G) c.*1009T>G (n.*1009T>G) c.1323T>G (p.Asn441Lys) c.786T>G (p.Asn262Lys) c.1065T>G (p.Asn355Lys) c.-4294966183T>G c.-4294965904T>G c.987T>G (p.Asn329Lys) | |
| 2 | g.232534340G>A | CA351005860 | CHRND | c.1369G>A (p.Glu457Lys) c.*551G>A (n.*551G>A) c.*1010G>A (n.*1010G>A) c.1324G>A (p.Glu442Lys) c.787G>A (p.Glu263Lys) c.1066G>A (p.Glu356Lys) c.-4294966182G>A c.-4294965903G>A c.988G>A (p.Glu330Lys) | |
| 2 | g.232534340G>C | CA351005861 | CHRND | c.1369G>C (p.Glu457Gln) c.*551G>C (n.*551G>C) c.*1010G>C (n.*1010G>C) c.1324G>C (p.Glu442Gln) c.787G>C (p.Glu263Gln) c.1066G>C (p.Glu356Gln) c.-4294966182G>C c.-4294965903G>C c.988G>C (p.Glu330Gln) | |
| 2 | g.232534340G>T | CA351005862 | CHRND | c.1369G>T (p.Glu457Ter) c.*551G>T (n.*551G>T) c.*1010G>T (n.*1010G>T) c.1324G>T (p.Glu442Ter) c.787G>T (p.Glu263Ter) c.1066G>T (p.Glu356Ter) c.-4294966182G>T c.-4294965903G>T c.988G>T (p.Glu330Ter) | |
| 2 | g.232534341A>C | CA351005865 | CHRND | c.1370A>C (p.Glu457Ala) c.*552A>C (n.*552A>C) c.*1011A>C (n.*1011A>C) c.1325A>C (p.Glu442Ala) c.788A>C (p.Glu263Ala) c.1067A>C (p.Glu356Ala) c.-4294966181A>C c.-4294965902A>C c.989A>C (p.Glu330Ala) | |
| 2 | g.232534341A>G | CA351005863 | CHRND | c.1370A>G (p.Glu457Gly) c.*552A>G (n.*552A>G) c.*1011A>G (n.*1011A>G) c.1325A>G (p.Glu442Gly) c.788A>G (p.Glu263Gly) c.1067A>G (p.Glu356Gly) c.-4294966181A>G c.-4294965902A>G c.989A>G (p.Glu330Gly) | |
| 2 | g.232534341A>T | CA351005864 | CHRND | c.1370A>T (p.Glu457Val) c.*552A>T (n.*552A>T) c.*1011A>T (n.*1011A>T) c.1325A>T (p.Glu442Val) c.788A>T (p.Glu263Val) c.1067A>T (p.Glu356Val) c.-4294966181A>T c.-4294965902A>T c.989A>T (p.Glu330Val) | |
| 2 | g.232534342G>A | CA431952508 | CHRND | c.1371G>A (p.Glu457=) c.*553G>A (n.*553G>A) c.*1012G>A (n.*1012G>A) c.1326G>A (p.Glu442=) c.789G>A (p.Glu263=) c.1068G>A (p.Glu356=) c.-4294966180G>A c.-4294965901G>A c.990G>A (p.Glu330=) | |
| 2 | g.232534342G>C | CA351005866 | CHRND | c.1371G>C (p.Glu457Asp) c.*553G>C (n.*553G>C) c.*1012G>C (n.*1012G>C) c.1326G>C (p.Glu442Asp) c.789G>C (p.Glu263Asp) c.1068G>C (p.Glu356Asp) c.-4294966180G>C c.-4294965901G>C c.990G>C (p.Glu330Asp) | |
| 2 | g.232534342G>T | CA351005867 | CHRND | c.1371G>T (p.Glu457Asp) c.*553G>T (n.*553G>T) c.*1012G>T (n.*1012G>T) c.1326G>T (p.Glu442Asp) c.789G>T (p.Glu263Asp) c.1068G>T (p.Glu356Asp) c.-4294966180G>T c.-4294965901G>T c.990G>T (p.Glu330Asp) | |
| 2 | g.232534343G>A | CA351005868 | CHRND | c.1371+1G>A (n.1371+1G>A) c.*553+1G>A (n.*553+1G>A) c.*1012+1G>A (n.*1012+1G>A) c.1326+1G>A (n.1326+1G>A) c.789+1G>A (n.789+1G>A) c.1068+1G>A (n.1068+1G>A) c.-4294966180+1G>A c.-4294965901+1G>A c.990+1G>A (n.990+1G>A) | |
| 2 | g.232534343G>C | CA351005869 | CHRND | c.1371+1G>C (n.1371+1G>C) c.*553+1G>C (n.*553+1G>C) c.*1012+1G>C (n.*1012+1G>C) c.1326+1G>C (n.1326+1G>C) c.789+1G>C (n.789+1G>C) c.1068+1G>C (n.1068+1G>C) c.-4294966180+1G>C c.-4294965901+1G>C c.990+1G>C (n.990+1G>C) | |
| 2 | g.232534343G= | CA1335314110 | CHRND | c.1371+1G= (n.1371+1G=) c.*553+1G= (n.*553+1G=) c.*1012+1G= (n.*1012+1G=) c.1326+1G= (n.1326+1G=) c.789+1G= (n.789+1G=) c.1068+1G= (n.1068+1G=) c.-4294966180+1G= c.-4294965901+1G= c.990+1G= (n.990+1G=) | |
| 2 | g.232534343G>T | CA351005870 | CHRND | c.1371+1G>T (n.1371+1G>T) c.*553+1G>T (n.*553+1G>T) c.*1012+1G>T (n.*1012+1G>T) c.1326+1G>T (n.1326+1G>T) c.789+1G>T (n.789+1G>T) c.1068+1G>T (n.1068+1G>T) c.-4294966180+1G>T c.-4294965901+1G>T c.990+1G>T (n.990+1G>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.232534344T>A | CA351005871 | CHRND | c.1371+2T>A (n.1371+2T>A) c.*553+2T>A (n.*553+2T>A) c.*1012+2T>A (n.*1012+2T>A) c.1326+2T>A (n.1326+2T>A) c.789+2T>A (n.789+2T>A) c.1068+2T>A (n.1068+2T>A) c.-4294966180+2T>A c.-4294965901+2T>A c.990+2T>A (n.990+2T>A) | |
| 2 | g.232534344T>C | CA351005872 | CHRND | c.1371+2T>C (n.1371+2T>C) c.*553+2T>C (n.*553+2T>C) c.*1012+2T>C (n.*1012+2T>C) c.1326+2T>C (n.1326+2T>C) c.789+2T>C (n.789+2T>C) c.1068+2T>C (n.1068+2T>C) c.-4294966180+2T>C c.-4294965901+2T>C c.990+2T>C (n.990+2T>C) | |
| 2 | g.232534344T>G | CA351005873 | CHRND | c.1371+2T>G (n.1371+2T>G) c.*553+2T>G (n.*553+2T>G) c.*1012+2T>G (n.*1012+2T>G) c.1326+2T>G (n.1326+2T>G) c.789+2T>G (n.789+2T>G) c.1068+2T>G (n.1068+2T>G) c.-4294966180+2T>G c.-4294965901+2T>G c.990+2T>G (n.990+2T>G) | |
| 2 | g.232534348G>A | CA1335314112 | CHRND | c.1371+6G>A (n.1371+6G>A) c.*553+6G>A (n.*553+6G>A) c.*1012+6G>A (n.*1012+6G>A) c.1326+6G>A (n.1326+6G>A) c.789+6G>A (n.789+6G>A) c.1068+6G>A (n.1068+6G>A) c.-4294966180+6G>A c.-4294965901+6G>A c.990+6G>A (n.990+6G>A) | dbSNP gnomAD v4 |
| 2 | g.232534348G= | CA1335314111 | CHRND | c.1371+6G= (n.1371+6G=) c.*553+6G= (n.*553+6G=) c.*1012+6G= (n.*1012+6G=) c.1326+6G= (n.1326+6G=) c.789+6G= (n.789+6G=) c.1068+6G= (n.1068+6G=) c.-4294966180+6G= c.-4294965901+6G= c.990+6G= (n.990+6G=) | |
| 2 | g.232534349G>A | CA2663623936 | CHRND | c.1371+7G>A (n.1371+7G>A) c.*553+7G>A (n.*553+7G>A) c.*1012+7G>A (n.*1012+7G>A) c.1326+7G>A (n.1326+7G>A) c.789+7G>A (n.789+7G>A) c.1068+7G>A (n.1068+7G>A) c.-4294966180+7G>A c.-4294965901+7G>A c.990+7G>A (n.990+7G>A) | gnomAD v4 |
| 2 | g.232534349G= | CA1335314113 | CHRND | c.1371+7G= (n.1371+7G=) c.*553+7G= (n.*553+7G=) c.*1012+7G= (n.*1012+7G=) c.1326+7G= (n.1326+7G=) c.789+7G= (n.789+7G=) c.1068+7G= (n.1068+7G=) c.-4294966180+7G= c.-4294965901+7G= c.990+7G= (n.990+7G=) | |
| 2 | g.232534349G>T | CA208740 | CHRND | c.1371+7G>T (n.1371+7G>T) c.*553+7G>T (n.*553+7G>T) c.*1012+7G>T (n.*1012+7G>T) c.1326+7G>T (n.1326+7G>T) c.789+7G>T (n.789+7G>T) c.1068+7G>T (n.1068+7G>T) c.-4294966180+7G>T c.-4294965901+7G>T c.990+7G>T (n.990+7G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534350A>T | CA2524427370 | CHRND | c.1371+8A>T (n.1371+8A>T) c.*553+8A>T (n.*553+8A>T) c.*1012+8A>T (n.*1012+8A>T) c.1326+8A>T (n.1326+8A>T) c.789+8A>T (n.789+8A>T) c.1068+8A>T (n.1068+8A>T) c.-4294966180+8A>T c.-4294965901+8A>T c.990+8A>T (n.990+8A>T) | gnomAD v4 |
| 2 | g.232534351C>T | CA2663623939 | CHRND | c.1371+9C>T (n.1371+9C>T) c.*553+9C>T (n.*553+9C>T) c.*1012+9C>T (n.*1012+9C>T) c.1326+9C>T (n.1326+9C>T) c.789+9C>T (n.789+9C>T) c.1068+9C>T (n.1068+9C>T) c.-4294966180+9C>T c.-4294965901+9C>T c.990+9C>T (n.990+9C>T) | gnomAD v4 |
| 2 | g.232534352C>A | CA2168331 | CHRND | c.1371+10C>A (n.1371+10C>A) c.*553+10C>A (n.*553+10C>A) c.*1012+10C>A (n.*1012+10C>A) c.1326+10C>A (n.1326+10C>A) c.789+10C>A (n.789+10C>A) c.1068+10C>A (n.1068+10C>A) c.-4294966180+10C>A c.-4294965901+10C>A c.990+10C>A (n.990+10C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534352C= | CA1335314114 | CHRND | c.1371+10C= (n.1371+10C=) c.*553+10C= (n.*553+10C=) c.*1012+10C= (n.*1012+10C=) c.1326+10C= (n.1326+10C=) c.789+10C= (n.789+10C=) c.1068+10C= (n.1068+10C=) c.-4294966180+10C= c.-4294965901+10C= c.990+10C= (n.990+10C=) | |
| 2 | g.232534354C= | CA1335314115 | CHRND | c.1371+12C= (n.1371+12C=) c.*553+12C= (n.*553+12C=) c.*1012+12C= (n.*1012+12C=) c.1326+12C= (n.1326+12C=) c.789+12C= (n.789+12C=) c.1068+12C= (n.1068+12C=) c.-4294966180+12C= c.-4294965901+12C= c.990+12C= (n.990+12C=) | |
| 2 | g.232534354C>T | CA540309838 | CHRND | c.1371+12C>T (n.1371+12C>T) c.*553+12C>T (n.*553+12C>T) c.*1012+12C>T (n.*1012+12C>T) c.1326+12C>T (n.1326+12C>T) c.789+12C>T (n.789+12C>T) c.1068+12C>T (n.1068+12C>T) c.-4294966180+12C>T c.-4294965901+12C>T c.990+12C>T (n.990+12C>T) | dbSNP gnomAD v2 gnomAD v4 |