Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.33053901A= | CA2083133413 | KL | c.954A= (p.Lys318=) n.962A= c.33A= (p.Lys11=) | |
13 | g.33053901A>C | CA387790539 | KL | c.954A>C (p.Lys318Asn) n.962A>C c.33A>C (p.Lys11Asn) | |
13 | g.33053901A>G | CA6944005 | KL | c.954A>G (p.Lys318=) n.962A>G c.33A>G (p.Lys11=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.33053901A>T | CA387790541 | KL | c.954A>T (p.Lys318Asn) n.962A>T c.33A>T (p.Lys11Asn) | |
13 | g.33053902T>A | CA387790542 | KL | c.955T>A (p.Ser319Thr) n.963T>A c.34T>A (p.Ser12Thr) | |
13 | g.33053902T>C | CA387790543 | KL | c.955T>C (p.Ser319Pro) n.963T>C c.34T>C (p.Ser12Pro) | |
13 | g.33053902T>G | CA387790544 | KL | c.955T>G (p.Ser319Ala) n.963T>G c.34T>G (p.Ser12Ala) | |
13 | g.33053903C>A | CA387790546 | KL | c.956C>A (p.Ser319Tyr) n.964C>A c.35C>A (p.Ser12Tyr) | gnomAD v4 |
13 | g.33053903C= | CA2083133424 | KL | c.956C= (p.Ser319=) n.964C= c.35C= (p.Ser12=) | |
13 | g.33053903C>G | CA387790548 | KL | c.956C>G (p.Ser319Cys) n.964C>G c.35C>G (p.Ser12Cys) | |
13 | g.33053903C>T | CA6944006 | KL | c.956C>T (p.Ser319Phe) n.964C>T c.35C>T (p.Ser12Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.33053904T>A | CA483441614 | KL | c.957T>A (p.Ser319=) n.965T>A c.36T>A (p.Ser12=) | |
13 | g.33053904T>C | CA483441615 | KL | c.957T>C (p.Ser319=) n.965T>C c.36T>C (p.Ser12=) | |
13 | g.33053904T>G | CA483441616 | KL | c.957T>G (p.Ser319=) n.965T>G c.36T>G (p.Ser12=) | gnomAD v4 |
13 | g.33053905C>A | CA387790551 | KL | c.958C>A (p.Leu320Met) n.966C>A c.37C>A (p.Leu13Met) | gnomAD v4 |
13 | g.33053905C>G | CA387790553 | KL | c.958C>G (p.Leu320Val) n.966C>G c.37C>G (p.Leu13Val) | |
13 | g.33053905C>T | CA483441619 | KL | c.958C>T (p.Leu320=) n.966C>T c.37C>T (p.Leu13=) | |
13 | g.33053906T>A | CA387790555 | KL | c.959T>A (p.Leu320Gln) n.967T>A c.38T>A (p.Leu13Gln) | |
13 | g.33053906T>C | CA387790556 | KL | c.959T>C (p.Leu320Pro) n.967T>C c.38T>C (p.Leu13Pro) | |
13 | g.33053906T>G | CA387790557 | KL | c.959T>G (p.Leu320Arg) n.967T>G c.38T>G (p.Leu13Arg) | dbSNP |
13 | g.33053906T= | CA2083133433 | KL | c.959T= (p.Leu320=) n.967T= c.38T= (p.Leu13=) | |
13 | g.33053907G>A | CA483441626 | KL | c.960G>A (p.Leu320=) n.968G>A c.39G>A (p.Leu13=) | gnomAD v4 |
13 | g.33053907G>C | CA483441628 | KL | c.960G>C (p.Leu320=) n.968G>C c.39G>C (p.Leu13=) | gnomAD v4 |
13 | g.33053907G>T | CA483441630 | KL | c.960G>T (p.Leu320=) n.968G>T c.39G>T (p.Leu13=) | |
13 | g.33053908G>A | CA387790560 | KL | c.961G>A (p.Asp321Asn) n.969G>A c.40G>A (p.Asp14Asn) | |
13 | g.33053908G>C | CA387790562 | KL | c.961G>C (p.Asp321His) n.969G>C c.40G>C (p.Asp14His) | |
13 | g.33053908G>T | CA387790564 | KL | c.961G>T (p.Asp321Tyr) n.969G>T c.40G>T (p.Asp14Tyr) | gnomAD v4 |
13 | g.33053909A= | CA2083133438 | KL | c.962A= (p.Asp321=) n.970A= c.41A= (p.Asp14=) | |
13 | g.33053909A>C | CA387790567 | KL | c.962A>C (p.Asp321Ala) n.970A>C c.41A>C (p.Asp14Ala) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.33053909A>G | CA387790569 | KL | c.962A>G (p.Asp321Gly) n.970A>G c.41A>G (p.Asp14Gly) | |
13 | g.33053909A>T | CA387790571 | KL | c.962A>T (p.Asp321Val) n.970A>T c.41A>T (p.Asp14Val) | |
13 | g.33053910C>A | CA387790573 | KL | c.963C>A (p.Asp321Glu) n.971C>A c.42C>A (p.Asp14Glu) | gnomAD v4 |
13 | g.33053910C>G | CA387790575 | KL | c.963C>G (p.Asp321Glu) n.971C>G c.42C>G (p.Asp14Glu) | gnomAD v4 |
13 | g.33053910C>T | CA483441634 | KL | c.963C>T (p.Asp321=) n.971C>T c.42C>T (p.Asp14=) | gnomAD v4 |
13 | g.33053911T>A | CA387790585 | KL | c.964T>A (p.Phe322Ile) n.972T>A c.43T>A (p.Phe15Ile) | |
13 | g.33053911T>C | CA387790582 | KL | c.964T>C (p.Phe322Leu) n.972T>C c.43T>C (p.Phe15Leu) | |
13 | g.33053911T>G | CA387790576 | KL | c.964T>G (p.Phe322Val) n.972T>G c.43T>G (p.Phe15Val) | |
13 | g.33053912T>A | CA387790587 | KL | c.965T>A (p.Phe322Tyr) n.973T>A c.44T>A (p.Phe15Tyr) | |
13 | g.33053912T>C | CA387790588 | KL | c.965T>C (p.Phe322Ser) n.973T>C c.44T>C (p.Phe15Ser) | |
13 | g.33053912T>G | CA387790590 | KL | c.965T>G (p.Phe322Cys) n.973T>G c.44T>G (p.Phe15Cys) | |
13 | g.33053913T>A | CA387790593 | KL | c.966T>A (p.Phe322Leu) n.974T>A c.45T>A (p.Phe15Leu) | |
13 | g.33053913T>C | CA483441636 | KL | c.966T>C (p.Phe322=) n.974T>C c.45T>C (p.Phe15=) | |
13 | g.33053913T>G | CA387790594 | KL | c.966T>G (p.Phe322Leu) n.974T>G c.45T>G (p.Phe15Leu) | |
13 | g.33053914G>A | CA6944007 | KL | c.967G>A (p.Val323Ile) n.975G>A c.46G>A (p.Val16Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.33053914G>C | CA387790595 | KL | c.967G>C (p.Val323Leu) n.975G>C c.46G>C (p.Val16Leu) | |
13 | g.33053914G= | CA2083133449 | KL | c.967G= (p.Val323=) n.975G= c.46G= (p.Val16=) | |
13 | g.33053914G>T | CA387790596 | KL | c.967G>T (p.Val323Leu) n.975G>T c.46G>T (p.Val16Leu) | |
13 | g.33053915T>A | CA387790597 | KL | c.968T>A (p.Val323Glu) n.976T>A c.47T>A (p.Val16Glu) | |
13 | g.33053915T>C | CA387790599 | KL | c.968T>C (p.Val323Ala) n.976T>C c.47T>C (p.Val16Ala) | |
13 | g.33053915T>G | CA387790601 | KL | c.968T>G (p.Val323Gly) n.976T>G c.47T>G (p.Val16Gly) |