| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43122729T>A | CA173960 | POMK | c.905T>A (p.Val302Asp) c.*701T>A (n.*701T>A) c.623T>A (p.Val208Asp) c.*825T>A (n.*825T>A) c.863T>A (p.Val288Asp) c.*690T>A (n.*690T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122729T>C | CA371122936 | POMK | c.905T>C (p.Val302Ala) c.*701T>C (n.*701T>C) c.623T>C (p.Val208Ala) c.*825T>C (n.*825T>C) c.863T>C (p.Val288Ala) c.*690T>C (n.*690T>C) | COSMIC COSMIC |
| 8 | g.43122729T>G | CA371122937 | POMK | c.905T>G (p.Val302Gly) c.*701T>G (n.*701T>G) c.623T>G (p.Val208Gly) c.*825T>G (n.*825T>G) c.863T>G (p.Val288Gly) c.*690T>G (n.*690T>G) | |
| 8 | g.43122729T= | CA1779747909 | POMK | c.905T= (p.Val302=) c.*701T= (n.*701T=) c.623T= (p.Val208=) c.*825T= (n.*825T=) c.863T= (p.Val288=) c.*690T= (n.*690T=) | |
| 8 | g.43122730C>A | CA460787427 | POMK | c.906C>A (p.Val302=) c.*702C>A (n.*702C>A) c.624C>A (p.Val208=) c.*826C>A (n.*826C>A) c.864C>A (p.Val288=) c.*691C>A (n.*691C>A) | |
| 8 | g.43122730C= | CA1779747915 | POMK | c.906C= (p.Val302=) c.*702C= (n.*702C=) c.624C= (p.Val208=) c.*826C= (n.*826C=) c.864C= (p.Val288=) c.*691C= (n.*691C=) | |
| 8 | g.43122730C>G | CA460787428 | POMK | c.906C>G (p.Val302=) c.*702C>G (n.*702C>G) c.624C>G (p.Val208=) c.*826C>G (n.*826C>G) c.864C>G (p.Val288=) c.*691C>G (n.*691C>G) | |
| 8 | g.43122730C>T | CA460787429 | POMK | c.906C>T (p.Val302=) c.*702C>T (n.*702C>T) c.624C>T (p.Val208=) c.*826C>T (n.*826C>T) c.864C>T (p.Val288=) c.*691C>T (n.*691C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122731C>A | CA460787430 | POMK | c.907C>A (p.Arg303=) c.*703C>A (n.*703C>A) c.625C>A (p.Arg209=) c.*827C>A (n.*827C>A) c.865C>A (p.Arg289=) c.*692C>A (n.*692C>A) | |
| 8 | g.43122731C= | CA1779747919 | POMK | c.907C= (p.Arg303=) c.*703C= (n.*703C=) c.625C= (p.Arg209=) c.*827C= (n.*827C=) c.865C= (p.Arg289=) c.*692C= (n.*692C=) | |
| 8 | g.43122731C>G | CA371122938 | POMK | c.907C>G (p.Arg303Gly) c.*703C>G (n.*703C>G) c.625C>G (p.Arg209Gly) c.*827C>G (n.*827C>G) c.865C>G (p.Arg289Gly) c.*692C>G (n.*692C>G) | |
| 8 | g.43122731C>T | CA4736375 | POMK | c.907C>T (p.Arg303Ter) c.*703C>T (n.*703C>T) c.625C>T (p.Arg209Ter) c.*827C>T (n.*827C>T) c.865C>T (p.Arg289Ter) c.*692C>T (n.*692C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122732G>A | CA4736376 | POMK | c.908G>A (p.Arg303Gln) c.*704G>A (n.*704G>A) c.626G>A (p.Arg209Gln) c.*828G>A (n.*828G>A) c.866G>A (p.Arg289Gln) c.*693G>A (n.*693G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122732G>C | CA371122940 | POMK | c.908G>C (p.Arg303Pro) c.*704G>C (n.*704G>C) c.626G>C (p.Arg209Pro) c.*828G>C (n.*828G>C) c.866G>C (p.Arg289Pro) c.*693G>C (n.*693G>C) | |
| 8 | g.43122732G= | CA1779747923 | POMK | c.908G= (p.Arg303=) c.*704G= (n.*704G=) c.626G= (p.Arg209=) c.*828G= (n.*828G=) c.866G= (p.Arg289=) c.*693G= (n.*693G=) | |
| 8 | g.43122732G>T | CA371122939 | POMK | c.908G>T (p.Arg303Leu) c.*704G>T (n.*704G>T) c.626G>T (p.Arg209Leu) c.*828G>T (n.*828G>T) c.866G>T (p.Arg289Leu) c.*693G>T (n.*693G>T) | |
| 8 | g.43122733A>C | CA460787432 | POMK | c.909A>C (p.Arg303=) c.*705A>C (n.*705A>C) c.627A>C (p.Arg209=) c.*829A>C (n.*829A>C) c.867A>C (p.Arg289=) c.*694A>C (n.*694A>C) | |
| 8 | g.43122733A>G | CA460787433 | POMK | c.909A>G (p.Arg303=) c.*705A>G (n.*705A>G) c.627A>G (p.Arg209=) c.*829A>G (n.*829A>G) c.867A>G (p.Arg289=) c.*694A>G (n.*694A>G) | |
| 8 | g.43122733A>T | CA460787434 | POMK | c.909A>T (p.Arg303=) c.*705A>T (n.*705A>T) c.627A>T (p.Arg209=) c.*829A>T (n.*829A>T) c.867A>T (p.Arg289=) c.*694A>T (n.*694A>T) | |
| 8 | g.43122734T>A | CA371122941 | POMK | c.910T>A (p.Phe304Ile) c.*706T>A (n.*706T>A) c.628T>A (p.Phe210Ile) c.*830T>A (n.*830T>A) c.868T>A (p.Phe290Ile) c.*695T>A (n.*695T>A) | |
| 8 | g.43122734T>C | CA4736377 | POMK | c.910T>C (p.Phe304Leu) c.*706T>C (n.*706T>C) c.628T>C (p.Phe210Leu) c.*830T>C (n.*830T>C) c.868T>C (p.Phe290Leu) c.*695T>C (n.*695T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122734T>G | CA371122942 | POMK | c.910T>G (p.Phe304Val) c.*706T>G (n.*706T>G) c.628T>G (p.Phe210Val) c.*830T>G (n.*830T>G) c.868T>G (p.Phe290Val) c.*695T>G (n.*695T>G) | |
| 8 | g.43122734T= | CA1779747931 | POMK | c.910T= (p.Phe304=) c.*706T= (n.*706T=) c.628T= (p.Phe210=) c.*830T= (n.*830T=) c.868T= (p.Phe290=) c.*695T= (n.*695T=) | |
| 8 | g.43122735T>A | CA371122943 | POMK | c.911T>A (p.Phe304Tyr) c.*707T>A (n.*707T>A) c.629T>A (p.Phe210Tyr) c.*831T>A (n.*831T>A) c.869T>A (p.Phe290Tyr) c.*696T>A (n.*696T>A) | |
| 8 | g.43122735T>C | CA371122945 | POMK | c.911T>C (p.Phe304Ser) c.*707T>C (n.*707T>C) c.629T>C (p.Phe210Ser) c.*831T>C (n.*831T>C) c.869T>C (p.Phe290Ser) c.*696T>C (n.*696T>C) | |
| 8 | g.43122735T>G | CA371122944 | POMK | c.911T>G (p.Phe304Cys) c.*707T>G (n.*707T>G) c.629T>G (p.Phe210Cys) c.*831T>G (n.*831T>G) c.869T>G (p.Phe290Cys) c.*696T>G (n.*696T>G) | |
| 8 | g.43122736C>A | CA371122946 | POMK | c.912C>A (p.Phe304Leu) c.*708C>A (n.*708C>A) c.630C>A (p.Phe210Leu) c.*832C>A (n.*832C>A) c.870C>A (p.Phe290Leu) c.*697C>A (n.*697C>A) | |
| 8 | g.43122736C>G | CA371122947 | POMK | c.912C>G (p.Phe304Leu) c.*708C>G (n.*708C>G) c.630C>G (p.Phe210Leu) c.*832C>G (n.*832C>G) c.870C>G (p.Phe290Leu) c.*697C>G (n.*697C>G) | |
| 8 | g.43122736C>T | CA460787439 | POMK | c.912C>T (p.Phe304=) c.*708C>T (n.*708C>T) c.630C>T (p.Phe210=) c.*832C>T (n.*832C>T) c.870C>T (p.Phe290=) c.*697C>T (n.*697C>T) | gnomAD v4 |
| 8 | g.43122737C>A | CA371122948 | POMK | c.913C>A (p.His305Asn) c.*709C>A (n.*709C>A) c.631C>A (p.His211Asn) c.*833C>A (n.*833C>A) c.871C>A (p.His291Asn) c.*698C>A (n.*698C>A) | |
| 8 | g.43122737C>G | CA371122949 | POMK | c.913C>G (p.His305Asp) c.*709C>G (n.*709C>G) c.631C>G (p.His211Asp) c.*833C>G (n.*833C>G) c.871C>G (p.His291Asp) c.*698C>G (n.*698C>G) | |
| 8 | g.43122737C>T | CA371122950 | POMK | c.913C>T (p.His305Tyr) c.*709C>T (n.*709C>T) c.631C>T (p.His211Tyr) c.*833C>T (n.*833C>T) c.871C>T (p.His291Tyr) c.*698C>T (n.*698C>T) | |
| 8 | g.43122738A= | CA1779747939 | POMK | c.914A= (p.His305=) c.*710A= (n.*710A=) c.632A= (p.His211=) c.*834A= (n.*834A=) c.872A= (p.His291=) c.*699A= (n.*699A=) | |
| 8 | g.43122738A>C | CA371122951 | POMK | c.914A>C (p.His305Pro) c.*710A>C (n.*710A>C) c.632A>C (p.His211Pro) c.*834A>C (n.*834A>C) c.872A>C (p.His291Pro) c.*699A>C (n.*699A>C) | |
| 8 | g.43122738A>G | CA4736378 | POMK | c.914A>G (p.His305Arg) c.*710A>G (n.*710A>G) c.632A>G (p.His211Arg) c.*834A>G (n.*834A>G) c.872A>G (p.His291Arg) c.*699A>G (n.*699A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122738A>T | CA371122952 | POMK | c.914A>T (p.His305Leu) c.*710A>T (n.*710A>T) c.632A>T (p.His211Leu) c.*834A>T (n.*834A>T) c.872A>T (p.His291Leu) c.*699A>T (n.*699A>T) | |
| 8 | g.43122739T>A | CA371122953 | POMK | c.915T>A (p.His305Gln) c.*711T>A (n.*711T>A) c.633T>A (p.His211Gln) c.*835T>A (n.*835T>A) c.873T>A (p.His291Gln) c.*700T>A (n.*700T>A) | |
| 8 | g.43122739T>C | CA460787441 | POMK | c.915T>C (p.His305=) c.*711T>C (n.*711T>C) c.633T>C (p.His211=) c.*835T>C (n.*835T>C) c.873T>C (p.His291=) c.*700T>C (n.*700T>C) | |
| 8 | g.43122739T>G | CA371122954 | POMK | c.915T>G (p.His305Gln) c.*711T>G (n.*711T>G) c.633T>G (p.His211Gln) c.*835T>G (n.*835T>G) c.873T>G (p.His291Gln) c.*700T>G (n.*700T>G) | |
| 8 | g.43122741dup | CA10603099 | POMK | c.917dup (p.Leu306PhefsTer3) c.*713dup (n.*713dup) c.635dup (p.Leu212PhefsTer3) c.*837dup (n.*837dup) c.875dup (p.Leu292PhefsTer3) c.*702dup (n.*702dup) | ClinVar dbSNP |
| 8 | g.43122740T>A | CA371122955 | POMK | c.916T>A (p.Leu306Met) c.*712T>A (n.*712T>A) c.634T>A (p.Leu212Met) c.*836T>A (n.*836T>A) c.874T>A (p.Leu292Met) c.*701T>A (n.*701T>A) | |
| 8 | g.43122740T>C | CA460787442 | POMK | c.916T>C (p.Leu306=) c.*712T>C (n.*712T>C) c.634T>C (p.Leu212=) c.*836T>C (n.*836T>C) c.874T>C (p.Leu292=) c.*701T>C (n.*701T>C) | |
| 8 | g.43122740T>G | CA371122956 | POMK | c.916T>G (p.Leu306Val) c.*712T>G (n.*712T>G) c.634T>G (p.Leu212Val) c.*836T>G (n.*836T>G) c.874T>G (p.Leu292Val) c.*701T>G (n.*701T>G) | |
| 8 | g.43122741T>A | CA371122959 | POMK | c.917T>A (p.Leu306Ter) c.*713T>A (n.*713T>A) c.635T>A (p.Leu212Ter) c.*837T>A (n.*837T>A) c.875T>A (p.Leu292Ter) c.*702T>A (n.*702T>A) | |
| 8 | g.43122741T>C | CA371122958 | POMK | c.917T>C (p.Leu306Ser) c.*713T>C (n.*713T>C) c.635T>C (p.Leu212Ser) c.*837T>C (n.*837T>C) c.875T>C (p.Leu292Ser) c.*702T>C (n.*702T>C) | |
| 8 | g.43122741T>G | CA371122957 | POMK | c.917T>G (p.Leu306Trp) c.*713T>G (n.*713T>G) c.635T>G (p.Leu212Trp) c.*837T>G (n.*837T>G) c.875T>G (p.Leu292Trp) c.*702T>G (n.*702T>G) | |
| 8 | g.43122742G>A | CA460787447 | POMK | c.918G>A (p.Leu306=) c.*714G>A (n.*714G>A) c.636G>A (p.Leu212=) c.*838G>A (n.*838G>A) c.876G>A (p.Leu292=) c.*703G>A (n.*703G>A) | |
| 8 | g.43122742G>C | CA371122960 | POMK | c.918G>C (p.Leu306Phe) c.*714G>C (n.*714G>C) c.636G>C (p.Leu212Phe) c.*838G>C (n.*838G>C) c.876G>C (p.Leu292Phe) c.*703G>C (n.*703G>C) | |
| 8 | g.43122742G>T | CA371122961 | POMK | c.918G>T (p.Leu306Phe) c.*714G>T (n.*714G>T) c.636G>T (p.Leu212Phe) c.*838G>T (n.*838G>T) c.876G>T (p.Leu292Phe) c.*703G>T (n.*703G>T) | |
| 8 | g.43122743T>A | CA371122962 | POMK | c.919T>A (p.Phe307Ile) c.*715T>A (n.*715T>A) c.637T>A (p.Phe213Ile) c.*839T>A (n.*839T>A) c.877T>A (p.Phe293Ile) c.*704T>A (n.*704T>A) |