Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.133756823del | CA2697556867 | TF | c.692-8del (n.692-8del) c.311-8del (n.311-8del) c.158-109del (n.158-109del) c.560-8del (n.560-8del) | ClinVar |
3 | g.133756823C>G | CA2697556868 | TF | c.692-8C>G (n.692-8C>G) c.311-8C>G (n.311-8C>G) c.158-109C>G (n.158-109C>G) c.560-8C>G (n.560-8C>G) | ClinVar |
3 | g.133756823C>T | CA2667764513 | TF | c.692-8C>T (n.692-8C>T) c.311-8C>T (n.311-8C>T) c.158-109C>T (n.158-109C>T) c.560-8C>T (n.560-8C>T) | gnomAD v4 |
3 | g.133756825C= | CA1403107118 | TF | c.692-6C= (n.692-6C=) c.311-6C= (n.311-6C=) c.158-107C= (n.158-107C=) c.560-6C= (n.560-6C=) | |
3 | g.133756825C>T | CA2625074 | TF | c.692-6C>T (n.692-6C>T) c.311-6C>T (n.311-6C>T) c.158-107C>T (n.158-107C>T) c.560-6C>T (n.560-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756826C>T | CA2697556869 | TF | c.692-5C>T (n.692-5C>T) c.311-5C>T (n.311-5C>T) c.158-106C>T (n.158-106C>T) c.560-5C>T (n.560-5C>T) | ClinVar |
3 | g.133756828C= | CA1403107122 | TF | c.692-3C= (n.692-3C=) c.311-3C= (n.311-3C=) c.158-104C= (n.158-104C=) c.560-3C= (n.560-3C=) | |
3 | g.133756828C>G | CA1403107124 | TF | c.692-3C>G (n.692-3C>G) c.311-3C>G (n.311-3C>G) c.158-104C>G (n.158-104C>G) c.560-3C>G (n.560-3C>G) | dbSNP |
3 | g.133756829A>C | CA354604562 | TF | c.692-2A>C (n.692-2A>C) c.311-2A>C (n.311-2A>C) c.158-103A>C (n.158-103A>C) c.560-2A>C (n.560-2A>C) | |
3 | g.133756829A>G | CA354604563 | TF | c.692-2A>G (n.692-2A>G) c.311-2A>G (n.311-2A>G) c.158-103A>G (n.158-103A>G) c.560-2A>G (n.560-2A>G) | |
3 | g.133756829A>T | CA354604565 | TF | c.692-2A>T (n.692-2A>T) c.311-2A>T (n.311-2A>T) c.158-103A>T (n.158-103A>T) c.560-2A>T (n.560-2A>T) | |
3 | g.133756830G>A | CA354604568 | TF | c.692-1G>A (n.692-1G>A) c.311-1G>A (n.311-1G>A) c.158-102G>A (n.158-102G>A) c.560-1G>A (n.560-1G>A) | |
3 | g.133756830G>C | CA354604569 | TF | c.692-1G>C (n.692-1G>C) c.311-1G>C (n.311-1G>C) c.158-102G>C (n.158-102G>C) c.560-1G>C (n.560-1G>C) | |
3 | g.133756830G>T | CA354604572 | TF | c.692-1G>T (n.692-1G>T) c.311-1G>T (n.311-1G>T) c.158-102G>T (n.158-102G>T) c.560-1G>T (n.560-1G>T) | |
3 | g.133756831A>C | CA354604577 | TF | c.692A>C (p.Glu231Ala) c.311A>C (p.Glu104Ala) c.158-101A>C (n.158-101A>C) c.560A>C (p.Glu187Ala) | |
3 | g.133756831A>G | CA354604575 | TF | c.692A>G (p.Glu231Gly) c.311A>G (p.Glu104Gly) c.158-101A>G (n.158-101A>G) c.560A>G (p.Glu187Gly) | gnomAD v4 |
3 | g.133756831A>T | CA354604573 | TF | c.692A>T (p.Glu231Val) c.311A>T (p.Glu104Val) c.158-101A>T (n.158-101A>T) c.560A>T (p.Glu187Val) | |
3 | g.133756832G>A | CA435806155 | TF | c.693G>A (p.Glu231=) c.312G>A (p.Glu104=) c.158-100G>A (n.158-100G>A) c.561G>A (p.Glu187=) | |
3 | g.133756832G>C | CA354604579 | TF | c.693G>C (p.Glu231Asp) c.312G>C (p.Glu104Asp) c.158-100G>C (n.158-100G>C) c.561G>C (p.Glu187Asp) | |
3 | g.133756832G>T | CA354604581 | TF | c.693G>T (p.Glu231Asp) c.312G>T (p.Glu104Asp) c.158-100G>T (n.158-100G>T) c.561G>T (p.Glu187Asp) | |
3 | g.133756833A>C | CA354604585 | TF | c.694A>C (p.Asn232His) c.313A>C (p.Asn105His) c.158-99A>C (n.158-99A>C) c.562A>C (p.Asn188His) | |
3 | g.133756833A>G | CA354604587 | TF | c.694A>G (p.Asn232Asp) c.313A>G (p.Asn105Asp) c.158-99A>G (n.158-99A>G) c.562A>G (p.Asn188Asp) | |
3 | g.133756833A>T | CA354604589 | TF | c.694A>T (p.Asn232Tyr) c.313A>T (p.Asn105Tyr) c.158-99A>T (n.158-99A>T) c.562A>T (p.Asn188Tyr) | |
3 | g.133756834A>C | CA354604591 | TF | c.695A>C (p.Asn232Thr) c.314A>C (p.Asn105Thr) c.158-98A>C (n.158-98A>C) c.563A>C (p.Asn188Thr) | |
3 | g.133756834A>G | CA354604593 | TF | c.695A>G (p.Asn232Ser) c.314A>G (p.Asn105Ser) c.158-98A>G (n.158-98A>G) c.563A>G (p.Asn188Ser) | COSMIC |
3 | g.133756834A>T | CA354604594 | TF | c.695A>T (p.Asn232Ile) c.314A>T (p.Asn105Ile) c.158-98A>T (n.158-98A>T) c.563A>T (p.Asn188Ile) | |
3 | g.133756835C>A | CA354604596 | TF | c.696C>A (p.Asn232Lys) c.315C>A (p.Asn105Lys) c.158-97C>A (n.158-97C>A) c.564C>A (p.Asn188Lys) | COSMIC |
3 | g.133756835C>G | CA354604598 | TF | c.696C>G (p.Asn232Lys) c.315C>G (p.Asn105Lys) c.158-97C>G (n.158-97C>G) c.564C>G (p.Asn188Lys) | |
3 | g.133756835C>T | CA435806166 | TF | c.696C>T (p.Asn232=) c.315C>T (p.Asn105=) c.158-97C>T (n.158-97C>T) c.564C>T (p.Asn188=) | |
3 | g.133756836T>A | CA354604600 | TF | c.697T>A (p.Leu233Met) c.316T>A (p.Leu106Met) c.158-96T>A (n.158-96T>A) c.565T>A (p.Leu189Met) | |
3 | g.133756836T>C | CA435806168 | TF | c.697T>C (p.Leu233=) c.316T>C (p.Leu106=) c.158-96T>C (n.158-96T>C) c.565T>C (p.Leu189=) | |
3 | g.133756836T>G | CA354604603 | TF | c.697T>G (p.Leu233Val) c.316T>G (p.Leu106Val) c.158-96T>G (n.158-96T>G) c.565T>G (p.Leu189Val) | |
3 | g.133756837T>A | CA354604609 | TF | c.698T>A (p.Leu233Ter) c.317T>A (p.Leu106Ter) c.158-95T>A (n.158-95T>A) c.566T>A (p.Leu189Ter) | |
3 | g.133756837T>C | CA2625075 | TF | c.698T>C (p.Leu233Ser) c.317T>C (p.Leu106Ser) c.158-95T>C (n.158-95T>C) c.566T>C (p.Leu189Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756837T>G | CA354604606 | TF | c.698T>G (p.Leu233Trp) c.317T>G (p.Leu106Trp) c.158-95T>G (n.158-95T>G) c.566T>G (p.Leu189Trp) | |
3 | g.133756837T= | CA1403107129 | TF | c.698T= (p.Leu233=) c.317T= (p.Leu106=) c.158-95T= (n.158-95T=) c.566T= (p.Leu189=) | |
3 | g.133756838G>A | CA435806177 | TF | c.699G>A (p.Leu233=) c.318G>A (p.Leu106=) c.158-94G>A (n.158-94G>A) c.567G>A (p.Leu189=) | |
3 | g.133756838G>C | CA354604610 | TF | c.699G>C (p.Leu233Phe) c.318G>C (p.Leu106Phe) c.158-94G>C (n.158-94G>C) c.567G>C (p.Leu189Phe) | |
3 | g.133756838G>T | CA354604611 | TF | c.699G>T (p.Leu233Phe) c.318G>T (p.Leu106Phe) c.158-94G>T (n.158-94G>T) c.567G>T (p.Leu189Phe) | gnomAD v4 |
3 | g.133756839G>A | CA354604612 | TF | c.700G>A (p.Ala234Thr) c.319G>A (p.Ala107Thr) c.158-93G>A (n.158-93G>A) c.568G>A (p.Ala190Thr) | |
3 | g.133756839G>C | CA354604613 | TF | c.700G>C (p.Ala234Pro) c.319G>C (p.Ala107Pro) c.158-93G>C (n.158-93G>C) c.568G>C (p.Ala190Pro) | |
3 | g.133756839G>T | CA354604615 | TF | c.700G>T (p.Ala234Ser) c.319G>T (p.Ala107Ser) c.158-93G>T (n.158-93G>T) c.568G>T (p.Ala190Ser) | |
3 | g.133756840C>A | CA354604616 | TF | c.701C>A (p.Ala234Glu) c.320C>A (p.Ala107Glu) c.158-92C>A (n.158-92C>A) c.569C>A (p.Ala190Glu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133756840C= | CA1403107133 | TF | c.701C= (p.Ala234=) c.320C= (p.Ala107=) c.158-92C= (n.158-92C=) c.569C= (p.Ala190=) | |
3 | g.133756840C>G | CA354604617 | TF | c.701C>G (p.Ala234Gly) c.320C>G (p.Ala107Gly) c.158-92C>G (n.158-92C>G) c.569C>G (p.Ala190Gly) | |
3 | g.133756840C>T | CA2625076 | TF | c.701C>T (p.Ala234Val) c.320C>T (p.Ala107Val) c.158-92C>T (n.158-92C>T) c.569C>T (p.Ala190Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756841A>C | CA435806190 | TF | c.702A>C (p.Ala234=) c.321A>C (p.Ala107=) c.158-91A>C (n.158-91A>C) c.570A>C (p.Ala190=) | |
3 | g.133756841A>G | CA435806192 | TF | c.702A>G (p.Ala234=) c.321A>G (p.Ala107=) c.158-91A>G (n.158-91A>G) c.570A>G (p.Ala190=) | gnomAD v4 |
3 | g.133756841A>T | CA435806188 | TF | c.702A>T (p.Ala234=) c.321A>T (p.Ala107=) c.158-91A>T (n.158-91A>T) c.570A>T (p.Ala190=) | |
3 | g.133756842A>C | CA354604618 | TF | c.703A>C (p.Asn235His) c.322A>C (p.Asn108His) c.158-90A>C (n.158-90A>C) c.571A>C (p.Asn191His) | |
3 | g.133756842A>G | CA354604619 | TF | c.703A>G (p.Asn235Asp) c.322A>G (p.Asn108Asp) c.158-90A>G (n.158-90A>G) c.571A>G (p.Asn191Asp) | gnomAD v4 |
3 | g.133756842A>T | CA354604620 | TF | c.703A>T (p.Asn235Tyr) c.322A>T (p.Asn108Tyr) c.158-90A>T (n.158-90A>T) c.571A>T (p.Asn191Tyr) | |
3 | g.133756843A= | CA1403107136 | TF | c.704A= (p.Asn235=) c.323A= (p.Asn108=) c.158-89A= (n.158-89A=) c.572A= (p.Asn191=) | |
3 | g.133756843A>C | CA354604621 | TF | c.704A>C (p.Asn235Thr) c.323A>C (p.Asn108Thr) c.158-89A>C (n.158-89A>C) c.572A>C (p.Asn191Thr) | |
3 | g.133756843A>G | CA2625077 | TF | c.704A>G (p.Asn235Ser) c.323A>G (p.Asn108Ser) c.158-89A>G (n.158-89A>G) c.572A>G (p.Asn191Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756843A>T | CA354604623 | TF | c.704A>T (p.Asn235Ile) c.323A>T (p.Asn108Ile) c.158-89A>T (n.158-89A>T) c.572A>T (p.Asn191Ile) | |
3 | g.133756844C>A | CA354604625 | TF | c.705C>A (p.Asn235Lys) c.324C>A (p.Asn108Lys) c.158-88C>A (n.158-88C>A) c.573C>A (p.Asn191Lys) | |
3 | g.133756844C= | CA1403107139 | TF | c.705C= (p.Asn235=) c.324C= (p.Asn108=) c.158-88C= (n.158-88C=) c.573C= (p.Asn191=) | |
3 | g.133756844C>G | CA83674493 | TF | c.705C>G (p.Asn235Lys) c.324C>G (p.Asn108Lys) c.158-88C>G (n.158-88C>G) c.573C>G (p.Asn191Lys) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133756844C>T | CA435806202 | TF | c.705C>T (p.Asn235=) c.324C>T (p.Asn108=) c.158-88C>T (n.158-88C>T) c.573C>T (p.Asn191=) | |
3 | g.133756845A= | CA1403107141 | TF | c.706A= (p.Lys236=) c.325A= (p.Lys109=) c.158-87A= (n.158-87A=) c.574A= (p.Lys192=) | |
3 | g.133756845A>C | CA354604630 | TF | c.706A>C (p.Lys236Gln) c.325A>C (p.Lys109Gln) c.158-87A>C (n.158-87A>C) c.574A>C (p.Lys192Gln) | |
3 | g.133756845A>G | CA2625078 | TF | c.706A>G (p.Lys236Glu) c.325A>G (p.Lys109Glu) c.158-87A>G (n.158-87A>G) c.574A>G (p.Lys192Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756845A>T | CA354604633 | TF | c.706A>T (p.Lys236Ter) c.325A>T (p.Lys109Ter) c.158-87A>T (n.158-87A>T) c.574A>T (p.Lys192Ter) | |
3 | g.133756846A= | CA1403107142 | TF | c.707A= (p.Lys236=) c.326A= (p.Lys109=) c.158-86A= (n.158-86A=) c.575A= (p.Lys192=) | |
3 | g.133756846A>C | CA354604636 | TF | c.707A>C (p.Lys236Thr) c.326A>C (p.Lys109Thr) c.158-86A>C (n.158-86A>C) c.575A>C (p.Lys192Thr) | dbSNP |
3 | g.133756846A>G | CA354604638 | TF | c.707A>G (p.Lys236Arg) c.326A>G (p.Lys109Arg) c.158-86A>G (n.158-86A>G) c.575A>G (p.Lys192Arg) | |
3 | g.133756846A>T | CA354604640 | TF | c.707A>T (p.Lys236Met) c.326A>T (p.Lys109Met) c.158-86A>T (n.158-86A>T) c.575A>T (p.Lys192Met) | |
3 | g.133756847G>A | CA435806213 | TF | c.708G>A (p.Lys236=) c.327G>A (p.Lys109=) c.158-85G>A (n.158-85G>A) c.576G>A (p.Lys192=) | dbSNP |
3 | g.133756847G>C | CA354604642 | TF | c.708G>C (p.Lys236Asn) c.327G>C (p.Lys109Asn) c.158-85G>C (n.158-85G>C) c.576G>C (p.Lys192Asn) | |
3 | g.133756847G= | CA1403107145 | TF | c.708G= (p.Lys236=) c.327G= (p.Lys109=) c.158-85G= (n.158-85G=) c.576G= (p.Lys192=) | |
3 | g.133756847G>T | CA354604644 | TF | c.708G>T (p.Lys236Asn) c.327G>T (p.Lys109Asn) c.158-85G>T (n.158-85G>T) c.576G>T (p.Lys192Asn) | |
3 | g.133756848G>A | CA354604646 | TF | c.709G>A (p.Ala237Thr) c.328G>A (p.Ala110Thr) c.158-84G>A (n.158-84G>A) c.577G>A (p.Ala193Thr) | gnomAD v4 |
3 | g.133756848G>C | CA354604648 | TF | c.709G>C (p.Ala237Pro) c.328G>C (p.Ala110Pro) c.158-84G>C (n.158-84G>C) c.577G>C (p.Ala193Pro) | |
3 | g.133756848G>T | CA354604651 | TF | c.709G>T (p.Ala237Ser) c.328G>T (p.Ala110Ser) c.158-84G>T (n.158-84G>T) c.577G>T (p.Ala193Ser) | |
3 | g.133756849C>A | CA354604656 | TF | c.710C>A (p.Ala237Asp) c.329C>A (p.Ala110Asp) c.158-83C>A (n.158-83C>A) c.578C>A (p.Ala193Asp) | |
3 | g.133756849C= | CA1403107147 | TF | c.710C= (p.Ala237=) c.329C= (p.Ala110=) c.158-83C= (n.158-83C=) c.578C= (p.Ala193=) | |
3 | g.133756849C>G | CA354604654 | TF | c.710C>G (p.Ala237Gly) c.329C>G (p.Ala110Gly) c.158-83C>G (n.158-83C>G) c.578C>G (p.Ala193Gly) | |
3 | g.133756849C>T | CA354604653 | TF | c.710C>T (p.Ala237Val) c.329C>T (p.Ala110Val) c.158-83C>T (n.158-83C>T) c.578C>T (p.Ala193Val) | dbSNP |
3 | g.133756850T>A | CA435806222 | TF | c.711T>A (p.Ala237=) c.330T>A (p.Ala110=) c.158-82T>A (n.158-82T>A) c.579T>A (p.Ala193=) | |
3 | g.133756850T>C | CA435806223 | TF | c.711T>C (p.Ala237=) c.330T>C (p.Ala110=) c.158-82T>C (n.158-82T>C) c.579T>C (p.Ala193=) | |
3 | g.133756850T>G | CA435806225 | TF | c.711T>G (p.Ala237=) c.330T>G (p.Ala110=) c.158-82T>G (n.158-82T>G) c.579T>G (p.Ala193=) | |
3 | g.133756851G>A | CA354604658 | TF | c.712G>A (p.Asp238Asn) c.331G>A (p.Asp111Asn) c.158-81G>A (n.158-81G>A) c.580G>A (p.Asp194Asn) | gnomAD v4 |
3 | g.133756851G>C | CA354604661 | TF | c.712G>C (p.Asp238His) c.331G>C (p.Asp111His) c.158-81G>C (n.158-81G>C) c.580G>C (p.Asp194His) | |
3 | g.133756851G>T | CA354604663 | TF | c.712G>T (p.Asp238Tyr) c.331G>T (p.Asp111Tyr) c.158-81G>T (n.158-81G>T) c.580G>T (p.Asp194Tyr) | |
3 | g.133756852A>C | CA354604666 | TF | c.713A>C (p.Asp238Ala) c.332A>C (p.Asp111Ala) c.158-80A>C (n.158-80A>C) c.581A>C (p.Asp194Ala) | |
3 | g.133756852A>G | CA354604668 | TF | c.713A>G (p.Asp238Gly) c.332A>G (p.Asp111Gly) c.158-80A>G (n.158-80A>G) c.581A>G (p.Asp194Gly) | gnomAD v4 |
3 | g.133756852A>T | CA354604669 | TF | c.713A>T (p.Asp238Val) c.332A>T (p.Asp111Val) c.158-80A>T (n.158-80A>T) c.581A>T (p.Asp194Val) | |
3 | g.133756853C>A | CA354604671 | TF | c.714C>A (p.Asp238Glu) c.333C>A (p.Asp111Glu) c.158-79C>A (n.158-79C>A) c.582C>A (p.Asp194Glu) | dbSNP gnomAD v2 |
3 | g.133756853C= | CA1403107150 | TF | c.714C= (p.Asp238=) c.333C= (p.Asp111=) c.158-79C= (n.158-79C=) c.582C= (p.Asp194=) | |
3 | g.133756853C>G | CA83674497 | TF | c.714C>G (p.Asp238Glu) c.333C>G (p.Asp111Glu) c.158-79C>G (n.158-79C>G) c.582C>G (p.Asp194Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756853C>T | CA435806236 | TF | c.714C>T (p.Asp238=) c.333C>T (p.Asp111=) c.158-79C>T (n.158-79C>T) c.582C>T (p.Asp194=) | |
3 | g.133756854A= | CA1403107152 | TF | c.715A= (p.Arg239=) c.334A= (p.Arg112=) c.158-78A= (n.158-78A=) c.583A= (p.Arg195=) | |
3 | g.133756854A>C | CA435806238 | TF | c.715A>C (p.Arg239=) c.334A>C (p.Arg112=) c.158-78A>C (n.158-78A>C) c.583A>C (p.Arg195=) | |
3 | g.133756854A>G | CA354604674 | TF | c.715A>G (p.Arg239Gly) c.334A>G (p.Arg112Gly) c.158-78A>G (n.158-78A>G) c.583A>G (p.Arg195Gly) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133756854A>T | CA354604676 | TF | c.715A>T (p.Arg239Trp) c.334A>T (p.Arg112Trp) c.158-78A>T (n.158-78A>T) c.583A>T (p.Arg195Trp) | |
3 | g.133756855G>A | CA354604678 | TF | c.716G>A (p.Arg239Lys) c.335G>A (p.Arg112Lys) c.158-77G>A (n.158-77G>A) c.584G>A (p.Arg195Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756855G>C | CA354604680 | TF | c.716G>C (p.Arg239Thr) c.335G>C (p.Arg112Thr) c.158-77G>C (n.158-77G>C) c.584G>C (p.Arg195Thr) | |
3 | g.133756855G= | CA1403107153 | TF | c.716G= (p.Arg239=) c.335G= (p.Arg112=) c.158-77G= (n.158-77G=) c.584G= (p.Arg195=) | |
3 | g.133756855G>T | CA354604681 | TF | c.716G>T (p.Arg239Met) c.335G>T (p.Arg112Met) c.158-77G>T (n.158-77G>T) c.584G>T (p.Arg195Met) | |
3 | g.133756856G>A | CA83674500 | TF | c.717G>A (p.Arg239=) c.336G>A (p.Arg112=) c.158-76G>A (n.158-76G>A) c.585G>A (p.Arg195=) | dbSNP gnomAD v4 |
3 | g.133756856G>C | CA354604686 | TF | c.717G>C (p.Arg239Ser) c.336G>C (p.Arg112Ser) c.158-76G>C (n.158-76G>C) c.585G>C (p.Arg195Ser) | |
3 | g.133756856G= | CA1403107156 | TF | c.717G= (p.Arg239=) c.336G= (p.Arg112=) c.158-76G= (n.158-76G=) c.585G= (p.Arg195=) | |
3 | g.133756856G>T | CA354604684 | TF | c.717G>T (p.Arg239Ser) c.336G>T (p.Arg112Ser) c.158-76G>T (n.158-76G>T) c.585G>T (p.Arg195Ser) | |
3 | g.133756857G>A | CA2625079 | TF | c.718G>A (p.Asp240Asn) c.337G>A (p.Asp113Asn) c.158-75G>A (n.158-75G>A) c.586G>A (p.Asp196Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756857G>C | CA354604691 | TF | c.718G>C (p.Asp240His) c.337G>C (p.Asp113His) c.158-75G>C (n.158-75G>C) c.586G>C (p.Asp196His) | gnomAD v4 |
3 | g.133756857G= | CA1403107162 | TF | c.718G= (p.Asp240=) c.337G= (p.Asp113=) c.158-75G= (n.158-75G=) c.586G= (p.Asp196=) | |
3 | g.133756857G>T | CA354604693 | TF | c.718G>T (p.Asp240Tyr) c.337G>T (p.Asp113Tyr) c.158-75G>T (n.158-75G>T) c.586G>T (p.Asp196Tyr) | dbSNP gnomAD v4 |
3 | g.133756858A>C | CA354604696 | TF | c.719A>C (p.Asp240Ala) c.338A>C (p.Asp113Ala) c.158-74A>C (n.158-74A>C) c.587A>C (p.Asp196Ala) | |
3 | g.133756858A>G | CA354604697 | TF | c.719A>G (p.Asp240Gly) c.338A>G (p.Asp113Gly) c.158-74A>G (n.158-74A>G) c.587A>G (p.Asp196Gly) | |
3 | g.133756858A>T | CA354604699 | TF | c.719A>T (p.Asp240Val) c.338A>T (p.Asp113Val) c.158-74A>T (n.158-74A>T) c.587A>T (p.Asp196Val) | |
3 | g.133756859C>A | CA354604700 | TF | c.720C>A (p.Asp240Glu) c.339C>A (p.Asp113Glu) c.158-73C>A (n.158-73C>A) c.588C>A (p.Asp196Glu) | |
3 | g.133756859C>G | CA354604701 | TF | c.720C>G (p.Asp240Glu) c.339C>G (p.Asp113Glu) c.158-73C>G (n.158-73C>G) c.588C>G (p.Asp196Glu) | COSMIC |
3 | g.133756859C>T | CA435806263 | TF | c.720C>T (p.Asp240=) c.339C>T (p.Asp113=) c.158-73C>T (n.158-73C>T) c.588C>T (p.Asp196=) | |
3 | g.133756860C>A | CA354604704 | TF | c.721C>A (p.Gln241Lys) c.340C>A (p.Gln114Lys) c.158-72C>A (n.158-72C>A) c.589C>A (p.Gln197Lys) | |
3 | g.133756860C>G | CA354604705 | TF | c.721C>G (p.Gln241Glu) c.340C>G (p.Gln114Glu) c.158-72C>G (n.158-72C>G) c.589C>G (p.Gln197Glu) | |
3 | g.133756860C>T | CA354604707 | TF | c.721C>T (p.Gln241Ter) c.340C>T (p.Gln114Ter) c.158-72C>T (n.158-72C>T) c.589C>T (p.Gln197Ter) | |
3 | g.133756861A= | CA1403107164 | TF | c.722A= (p.Gln241=) c.341A= (p.Gln114=) c.158-71A= (n.158-71A=) c.590A= (p.Gln197=) | |
3 | g.133756861A>C | CA354604709 | TF | c.722A>C (p.Gln241Pro) c.341A>C (p.Gln114Pro) c.158-71A>C (n.158-71A>C) c.590A>C (p.Gln197Pro) | |
3 | g.133756861A>G | CA2625080 | TF | c.722A>G (p.Gln241Arg) c.341A>G (p.Gln114Arg) c.158-71A>G (n.158-71A>G) c.590A>G (p.Gln197Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756861A>T | CA354604712 | TF | c.722A>T (p.Gln241Leu) c.341A>T (p.Gln114Leu) c.158-71A>T (n.158-71A>T) c.590A>T (p.Gln197Leu) | |
3 | g.133756862G>A | CA2625081 | TF | c.723G>A (p.Gln241=) c.342G>A (p.Gln114=) c.158-70G>A (n.158-70G>A) c.591G>A (p.Gln197=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756862G>C | CA354604718 | TF | c.723G>C (p.Gln241His) c.342G>C (p.Gln114His) c.158-70G>C (n.158-70G>C) c.591G>C (p.Gln197His) | |
3 | g.133756862G= | CA1403107169 | TF | c.723G= (p.Gln241=) c.342G= (p.Gln114=) c.158-70G= (n.158-70G=) c.591G= (p.Gln197=) | |
3 | g.133756862G>T | CA354604715 | TF | c.723G>T (p.Gln241His) c.342G>T (p.Gln114His) c.158-70G>T (n.158-70G>T) c.591G>T (p.Gln197His) | |
3 | g.133756863T>A | CA354604720 | TF | c.724T>A (p.Tyr242Asn) c.343T>A (p.Tyr115Asn) c.158-69T>A (n.158-69T>A) c.592T>A (p.Tyr198Asn) | |
3 | g.133756863T>C | CA354604722 | TF | c.724T>C (p.Tyr242His) c.343T>C (p.Tyr115His) c.158-69T>C (n.158-69T>C) c.592T>C (p.Tyr198His) | |
3 | g.133756863T>G | CA354604724 | TF | c.724T>G (p.Tyr242Asp) c.343T>G (p.Tyr115Asp) c.158-69T>G (n.158-69T>G) c.592T>G (p.Tyr198Asp) | |
3 | g.133756864A>C | CA354604726 | TF | c.725A>C (p.Tyr242Ser) c.344A>C (p.Tyr115Ser) c.158-68A>C (n.158-68A>C) c.593A>C (p.Tyr198Ser) | |
3 | g.133756864A>G | CA354604729 | TF | c.725A>G (p.Tyr242Cys) c.344A>G (p.Tyr115Cys) c.158-68A>G (n.158-68A>G) c.593A>G (p.Tyr198Cys) | |
3 | g.133756864A>T | CA354604731 | TF | c.725A>T (p.Tyr242Phe) c.344A>T (p.Tyr115Phe) c.158-68A>T (n.158-68A>T) c.593A>T (p.Tyr198Phe) | |
3 | g.133756865T>A | CA354604734 | TF | c.726T>A (p.Tyr242Ter) c.345T>A (p.Tyr115Ter) c.158-67T>A (n.158-67T>A) c.594T>A (p.Tyr198Ter) | |
3 | g.133756865T>C | CA435806277 | TF | c.726T>C (p.Tyr242=) c.345T>C (p.Tyr115=) c.158-67T>C (n.158-67T>C) c.594T>C (p.Tyr198=) | |
3 | g.133756865T>G | CA354604735 | TF | c.726T>G (p.Tyr242Ter) c.345T>G (p.Tyr115Ter) c.158-67T>G (n.158-67T>G) c.594T>G (p.Tyr198Ter) | gnomAD v4 |
3 | g.133756866G>A | CA354604737 | TF | c.727G>A (p.Glu243Lys) c.346G>A (p.Glu116Lys) c.158-66G>A (n.158-66G>A) c.595G>A (p.Glu199Lys) | |
3 | g.133756866G>C | CA354604739 | TF | c.727G>C (p.Glu243Gln) c.346G>C (p.Glu116Gln) c.158-66G>C (n.158-66G>C) c.595G>C (p.Glu199Gln) | COSMIC |
3 | g.133756866G>T | CA354604740 | TF | c.727G>T (p.Glu243Ter) c.346G>T (p.Glu116Ter) c.158-66G>T (n.158-66G>T) c.595G>T (p.Glu199Ter) | |
3 | g.133756867A>C | CA354604746 | TF | c.728A>C (p.Glu243Ala) c.347A>C (p.Glu116Ala) c.158-65A>C (n.158-65A>C) c.596A>C (p.Glu199Ala) | |
3 | g.133756867A>G | CA354604744 | TF | c.728A>G (p.Glu243Gly) c.347A>G (p.Glu116Gly) c.158-65A>G (n.158-65A>G) c.596A>G (p.Glu199Gly) | |
3 | g.133756867A>T | CA354604742 | TF | c.728A>T (p.Glu243Val) c.347A>T (p.Glu116Val) c.158-65A>T (n.158-65A>T) c.596A>T (p.Glu199Val) | |
3 | g.133756868G>A | CA435806287 | TF | c.729G>A (p.Glu243=) c.348G>A (p.Glu116=) c.158-64G>A (n.158-64G>A) c.597G>A (p.Glu199=) | |
3 | g.133756868G>C | CA354604747 | TF | c.729G>C (p.Glu243Asp) c.348G>C (p.Glu116Asp) c.158-64G>C (n.158-64G>C) c.597G>C (p.Glu199Asp) | |
3 | g.133756868G>T | CA354604750 | TF | c.729G>T (p.Glu243Asp) c.348G>T (p.Glu116Asp) c.158-64G>T (n.158-64G>T) c.597G>T (p.Glu199Asp) | |
3 | g.133756869C>A | CA354604752 | TF | c.730C>A (p.Leu244Met) c.349C>A (p.Leu117Met) c.158-63C>A (n.158-63C>A) c.598C>A (p.Leu200Met) | |
3 | g.133756869C= | CA1403107174 | TF | c.730C= (p.Leu244=) c.349C= (p.Leu117=) c.158-63C= (n.158-63C=) c.598C= (p.Leu200=) | |
3 | g.133756869C>G | CA354604755 | TF | c.730C>G (p.Leu244Val) c.349C>G (p.Leu117Val) c.158-63C>G (n.158-63C>G) c.598C>G (p.Leu200Val) | |
3 | g.133756869C>T | CA2625082 | TF | c.730C>T (p.Leu244=) c.349C>T (p.Leu117=) c.158-63C>T (n.158-63C>T) c.598C>T (p.Leu200=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756870T>A | CA354604759 | TF | c.731T>A (p.Leu244Gln) c.350T>A (p.Leu117Gln) c.158-62T>A (n.158-62T>A) c.599T>A (p.Leu200Gln) | |
3 | g.133756870T>C | CA354604760 | TF | c.731T>C (p.Leu244Pro) c.350T>C (p.Leu117Pro) c.158-62T>C (n.158-62T>C) c.599T>C (p.Leu200Pro) | |
3 | g.133756870T>G | CA354604761 | TF | c.731T>G (p.Leu244Arg) c.350T>G (p.Leu117Arg) c.158-62T>G (n.158-62T>G) c.599T>G (p.Leu200Arg) | |
3 | g.133756871G>A | CA2625083 | TF | c.732G>A (p.Leu244=) c.351G>A (p.Leu117=) c.158-61G>A (n.158-61G>A) c.600G>A (p.Leu200=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756871G>C | CA435806294 | TF | c.732G>C (p.Leu244=) c.351G>C (p.Leu117=) c.158-61G>C (n.158-61G>C) c.600G>C (p.Leu200=) | |
3 | g.133756871G= | CA1403107178 | TF | c.732G= (p.Leu244=) c.351G= (p.Leu117=) c.158-61G= (n.158-61G=) c.600G= (p.Leu200=) | |
3 | g.133756871G>T | CA435806295 | TF | c.732G>T (p.Leu244=) c.351G>T (p.Leu117=) c.158-61G>T (n.158-61G>T) c.600G>T (p.Leu200=) | gnomAD v4 |
3 | g.133756872C>A | CA354604762 | TF | c.733C>A (p.Leu245Ile) c.352C>A (p.Leu118Ile) c.158-60C>A (n.158-60C>A) c.601C>A (p.Leu201Ile) | |
3 | g.133756872C= | CA1403107182 | TF | c.733C= (p.Leu245=) c.352C= (p.Leu118=) c.158-60C= (n.158-60C=) c.601C= (p.Leu201=) | |
3 | g.133756872C>G | CA354604763 | TF | c.733C>G (p.Leu245Val) c.352C>G (p.Leu118Val) c.158-60C>G (n.158-60C>G) c.601C>G (p.Leu201Val) | |
3 | g.133756872C>T | CA354604764 | TF | c.733C>T (p.Leu245Phe) c.352C>T (p.Leu118Phe) c.158-60C>T (n.158-60C>T) c.601C>T (p.Leu201Phe) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133756873T>A | CA354604767 | TF | c.734T>A (p.Leu245His) c.353T>A (p.Leu118His) c.158-59T>A (n.158-59T>A) c.602T>A (p.Leu201His) | |
3 | g.133756873T>C | CA354604766 | TF | c.734T>C (p.Leu245Pro) c.353T>C (p.Leu118Pro) c.158-59T>C (n.158-59T>C) c.602T>C (p.Leu201Pro) | gnomAD v4 |
3 | g.133756873T>G | CA354604765 | TF | c.734T>G (p.Leu245Arg) c.353T>G (p.Leu118Arg) c.158-59T>G (n.158-59T>G) c.602T>G (p.Leu201Arg) | |
3 | g.133756874T>A | CA435806303 | TF | c.735T>A (p.Leu245=) c.354T>A (p.Leu118=) c.158-58T>A (n.158-58T>A) c.603T>A (p.Leu201=) | |
3 | g.133756874T>C | CA435806301 | TF | c.735T>C (p.Leu245=) c.354T>C (p.Leu118=) c.158-58T>C (n.158-58T>C) c.603T>C (p.Leu201=) | |
3 | g.133756874T>G | CA435806302 | TF | c.735T>G (p.Leu245=) c.354T>G (p.Leu118=) c.158-58T>G (n.158-58T>G) c.603T>G (p.Leu201=) | |
3 | g.133756875T>A | CA354604768 | TF | c.736T>A (p.Cys246Ser) c.355T>A (p.Cys119Ser) c.158-57T>A (n.158-57T>A) c.604T>A (p.Cys202Ser) | |
3 | g.133756875T>C | CA354604770 | TF | c.736T>C (p.Cys246Arg) c.355T>C (p.Cys119Arg) c.158-57T>C (n.158-57T>C) c.604T>C (p.Cys202Arg) | |
3 | g.133756875T>G | CA354604769 | TF | c.736T>G (p.Cys246Gly) c.355T>G (p.Cys119Gly) c.158-57T>G (n.158-57T>G) c.604T>G (p.Cys202Gly) | |
3 | g.133756876G>A | CA354604771 | TF | c.737G>A (p.Cys246Tyr) c.356G>A (p.Cys119Tyr) c.158-56G>A (n.158-56G>A) c.605G>A (p.Cys202Tyr) | COSMIC |
3 | g.133756876G>C | CA354604773 | TF | c.737G>C (p.Cys246Ser) c.356G>C (p.Cys119Ser) c.158-56G>C (n.158-56G>C) c.605G>C (p.Cys202Ser) | |
3 | g.133756876G>T | CA354604772 | TF | c.737G>T (p.Cys246Phe) c.356G>T (p.Cys119Phe) c.158-56G>T (n.158-56G>T) c.605G>T (p.Cys202Phe) | |
3 | g.133756877C>A | CA354604774 | TF | c.738C>A (p.Cys246Ter) c.357C>A (p.Cys119Ter) c.158-55C>A (n.158-55C>A) c.606C>A (p.Cys202Ter) | |
3 | g.133756877C>G | CA354604775 | TF | c.738C>G (p.Cys246Trp) c.357C>G (p.Cys119Trp) c.158-55C>G (n.158-55C>G) c.606C>G (p.Cys202Trp) | |
3 | g.133756877C>T | CA435806315 | TF | c.738C>T (p.Cys246=) c.357C>T (p.Cys119=) c.158-55C>T (n.158-55C>T) c.606C>T (p.Cys202=) | |
3 | g.133756878C>A | CA354604776 | TF | c.739C>A (p.Leu247Met) c.358C>A (p.Leu120Met) c.158-54C>A (n.158-54C>A) c.607C>A (p.Leu203Met) | dbSNP |
3 | g.133756878C= | CA1403107191 | TF | c.739C= (p.Leu247=) c.358C= (p.Leu120=) c.158-54C= (n.158-54C=) c.607C= (p.Leu203=) | |
3 | g.133756878C>G | CA354604777 | TF | c.739C>G (p.Leu247Val) c.358C>G (p.Leu120Val) c.158-54C>G (n.158-54C>G) c.607C>G (p.Leu203Val) | |
3 | g.133756878C>T | CA2625084 | TF | c.739C>T (p.Leu247=) c.358C>T (p.Leu120=) c.158-54C>T (n.158-54C>T) c.607C>T (p.Leu203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756879T>A | CA354604778 | TF | c.740T>A (p.Leu247Gln) c.359T>A (p.Leu120Gln) c.158-53T>A (n.158-53T>A) c.608T>A (p.Leu203Gln) | |
3 | g.133756879T>C | CA354604779 | TF | c.740T>C (p.Leu247Pro) c.359T>C (p.Leu120Pro) c.158-53T>C (n.158-53T>C) c.608T>C (p.Leu203Pro) | |
3 | g.133756879T>G | CA354604780 | TF | c.740T>G (p.Leu247Arg) c.359T>G (p.Leu120Arg) c.158-53T>G (n.158-53T>G) c.608T>G (p.Leu203Arg) | gnomAD v4 |
3 | g.133756880G>A | CA2625085 | TF | c.741G>A (p.Leu247=) c.360G>A (p.Leu120=) c.158-52G>A (n.158-52G>A) c.609G>A (p.Leu203=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756880G>C | CA435806325 | TF | c.741G>C (p.Leu247=) c.360G>C (p.Leu120=) c.158-52G>C (n.158-52G>C) c.609G>C (p.Leu203=) | |
3 | g.133756880G= | CA1403107193 | TF | c.741G= (p.Leu247=) c.360G= (p.Leu120=) c.158-52G= (n.158-52G=) c.609G= (p.Leu203=) | |
3 | g.133756880G>T | CA435806327 | TF | c.741G>T (p.Leu247=) c.360G>T (p.Leu120=) c.158-52G>T (n.158-52G>T) c.609G>T (p.Leu203=) | |
3 | g.133756881G>A | CA354604781 | TF | c.742G>A (p.Asp248Asn) c.361G>A (p.Asp121Asn) c.158-51G>A (n.158-51G>A) c.610G>A (p.Asp204Asn) | |
3 | g.133756881G>C | CA354604782 | TF | c.742G>C (p.Asp248His) c.361G>C (p.Asp121His) c.158-51G>C (n.158-51G>C) c.610G>C (p.Asp204His) | |
3 | g.133756881G>T | CA354604783 | TF | c.742G>T (p.Asp248Tyr) c.361G>T (p.Asp121Tyr) c.158-51G>T (n.158-51G>T) c.610G>T (p.Asp204Tyr) | |
3 | g.133756882A>C | CA354604784 | TF | c.743A>C (p.Asp248Ala) c.362A>C (p.Asp121Ala) c.158-50A>C (n.158-50A>C) c.611A>C (p.Asp204Ala) | |
3 | g.133756882A>G | CA354604785 | TF | c.743A>G (p.Asp248Gly) c.362A>G (p.Asp121Gly) c.158-50A>G (n.158-50A>G) c.611A>G (p.Asp204Gly) | |
3 | g.133756882A>T | CA354604786 | TF | c.743A>T (p.Asp248Val) c.362A>T (p.Asp121Val) c.158-50A>T (n.158-50A>T) c.611A>T (p.Asp204Val) | |
3 | g.133756883C>A | CA2625086 | TF | c.744C>A (p.Asp248Glu) c.363C>A (p.Asp121Glu) c.158-49C>A (n.158-49C>A) c.612C>A (p.Asp204Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756883C= | CA1403107202 | TF | c.744C= (p.Asp248=) c.363C= (p.Asp121=) c.158-49C= (n.158-49C=) c.612C= (p.Asp204=) | |
3 | g.133756883C>G | CA354604787 | TF | c.744C>G (p.Asp248Glu) c.363C>G (p.Asp121Glu) c.158-49C>G (n.158-49C>G) c.612C>G (p.Asp204Glu) | |
3 | g.133756883C>T | CA2625087 | TF | c.744C>T (p.Asp248=) c.363C>T (p.Asp121=) c.158-49C>T (n.158-49C>T) c.612C>T (p.Asp204=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756884A>C | CA354604788 | TF | c.745A>C (p.Asn249His) c.364A>C (p.Asn122His) c.158-48A>C (n.158-48A>C) c.613A>C (p.Asn205His) | |
3 | g.133756884A>G | CA354604789 | TF | c.745A>G (p.Asn249Asp) c.364A>G (p.Asn122Asp) c.158-48A>G (n.158-48A>G) c.613A>G (p.Asn205Asp) | |
3 | g.133756884A>T | CA354604790 | TF | c.745A>T (p.Asn249Tyr) c.364A>T (p.Asn122Tyr) c.158-48A>T (n.158-48A>T) c.613A>T (p.Asn205Tyr) | |
3 | g.133756885del | CA2667764514 | TF | c.746del (p.Asn249ThrfsTer6) c.365del (p.Asn122ThrfsTer6) c.158-47del (n.158-47del) c.614del (p.Asn205ThrfsTer6) | gnomAD v4 |
3 | g.133756885A= | CA1403107205 | TF | c.746A= (p.Asn249=) c.365A= (p.Asn122=) c.158-47A= (n.158-47A=) c.614A= (p.Asn205=) | |
3 | g.133756885A>C | CA354604791 | TF | c.746A>C (p.Asn249Thr) c.365A>C (p.Asn122Thr) c.158-47A>C (n.158-47A>C) c.614A>C (p.Asn205Thr) | |
3 | g.133756885A>G | CA354604792 | TF | c.746A>G (p.Asn249Ser) c.365A>G (p.Asn122Ser) c.158-47A>G (n.158-47A>G) c.614A>G (p.Asn205Ser) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133756885A>T | CA354604793 | TF | c.746A>T (p.Asn249Ile) c.365A>T (p.Asn122Ile) c.158-47A>T (n.158-47A>T) c.614A>T (p.Asn205Ile) | |
3 | g.133756886C>A | CA354604794 | TF | c.747C>A (p.Asn249Lys) c.366C>A (p.Asn122Lys) c.158-46C>A (n.158-46C>A) c.615C>A (p.Asn205Lys) | |
3 | g.133756886C= | CA1403107209 | TF | c.747C= (p.Asn249=) c.366C= (p.Asn122=) c.158-46C= (n.158-46C=) c.615C= (p.Asn205=) | |
3 | g.133756886C>G | CA354604795 | TF | c.747C>G (p.Asn249Lys) c.366C>G (p.Asn122Lys) c.158-46C>G (n.158-46C>G) c.615C>G (p.Asn205Lys) | |
3 | g.133756886C>T | CA435806349 | TF | c.747C>T (p.Asn249=) c.366C>T (p.Asn122=) c.158-46C>T (n.158-46C>T) c.615C>T (p.Asn205=) | ClinVar dbSNP gnomAD v4 |
3 | g.133756887A= | CA1403107217 | TF | c.748A= (p.Thr250=) c.367A= (p.Thr123=) c.158-45A= (n.158-45A=) c.616A= (p.Thr206=) | |
3 | g.133756887A>C | CA354604796 | TF | c.748A>C (p.Thr250Pro) c.367A>C (p.Thr123Pro) c.158-45A>C (n.158-45A>C) c.616A>C (p.Thr206Pro) | dbSNP |
3 | g.133756887A>G | CA83674522 | TF | c.748A>G (p.Thr250Ala) c.367A>G (p.Thr123Ala) c.158-45A>G (n.158-45A>G) c.616A>G (p.Thr206Ala) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133756887A>T | CA354604797 | TF | c.748A>T (p.Thr250Ser) c.367A>T (p.Thr123Ser) c.158-45A>T (n.158-45A>T) c.616A>T (p.Thr206Ser) | |
3 | g.133756888C>A | CA354604799 | TF | c.749C>A (p.Thr250Asn) c.368C>A (p.Thr123Asn) c.158-44C>A (n.158-44C>A) c.617C>A (p.Thr206Asn) | |
3 | g.133756888C= | CA1403107225 | TF | c.749C= (p.Thr250=) c.368C= (p.Thr123=) c.158-44C= (n.158-44C=) c.617C= (p.Thr206=) | |
3 | g.133756888C>G | CA2625088 | TF | c.749C>G (p.Thr250Ser) c.368C>G (p.Thr123Ser) c.158-44C>G (n.158-44C>G) c.617C>G (p.Thr206Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756888C>T | CA354604798 | TF | c.749C>T (p.Thr250Ile) c.368C>T (p.Thr123Ile) c.158-44C>T (n.158-44C>T) c.617C>T (p.Thr206Ile) | |
3 | g.133756889C>A | CA435806357 | TF | c.750C>A (p.Thr250=) c.369C>A (p.Thr123=) c.158-43C>A (n.158-43C>A) c.618C>A (p.Thr206=) | ClinVar |
3 | g.133756889C>G | CA435806358 | TF | c.750C>G (p.Thr250=) c.369C>G (p.Thr123=) c.158-43C>G (n.158-43C>G) c.618C>G (p.Thr206=) | COSMIC |
3 | g.133756889C>T | CA435806360 | TF | c.750C>T (p.Thr250=) c.369C>T (p.Thr123=) c.158-43C>T (n.158-43C>T) c.618C>T (p.Thr206=) | |
3 | g.133756890C>A | CA435806362 | TF | c.751C>A (p.Arg251=) c.370C>A (p.Arg124=) c.158-42C>A (n.158-42C>A) c.619C>A (p.Arg207=) | |
3 | g.133756890C= | CA1403107240 | TF | c.751C= (p.Arg251=) c.370C= (p.Arg124=) c.158-42C= (n.158-42C=) c.619C= (p.Arg207=) | |
3 | g.133756890C>G | CA354604800 | TF | c.751C>G (p.Arg251Gly) c.370C>G (p.Arg124Gly) c.158-42C>G (n.158-42C>G) c.619C>G (p.Arg207Gly) | |
3 | g.133756890C>T | CA2625089 | TF | c.751C>T (p.Arg251Trp) c.370C>T (p.Arg124Trp) c.158-42C>T (n.158-42C>T) c.619C>T (p.Arg207Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133756891G>A | CA83674532 | TF | c.752G>A (p.Arg251Gln) c.371G>A (p.Arg124Gln) c.158-41G>A (n.158-41G>A) c.620G>A (p.Arg207Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133756891G>C | CA354604801 | TF | c.752G>C (p.Arg251Pro) c.371G>C (p.Arg124Pro) c.158-41G>C (n.158-41G>C) c.620G>C (p.Arg207Pro) | |
3 | g.133756891G= | CA1403107251 | TF | c.752G= (p.Arg251=) c.371G= (p.Arg124=) c.158-41G= (n.158-41G=) c.620G= (p.Arg207=) | |
3 | g.133756891G>T | CA354604802 | TF | c.752G>T (p.Arg251Leu) c.371G>T (p.Arg124Leu) c.158-41G>T (n.158-41G>T) c.620G>T (p.Arg207Leu) | |
3 | g.133756892G>A | CA435806369 | TF | c.753G>A (p.Arg251=) c.372G>A (p.Arg124=) c.158-40G>A (n.158-40G>A) c.621G>A (p.Arg207=) | |
3 | g.133756892G>C | CA435806371 | TF | c.753G>C (p.Arg251=) c.372G>C (p.Arg124=) c.158-40G>C (n.158-40G>C) c.621G>C (p.Arg207=) | |
3 | g.133756892G>T | CA435806373 | TF | c.753G>T (p.Arg251=) c.372G>T (p.Arg124=) c.158-40G>T (n.158-40G>T) c.621G>T (p.Arg207=) | |
3 | g.133756893A>C | CA354604803 | TF | c.754A>C (p.Lys252Gln) c.373A>C (p.Lys125Gln) c.158-39A>C (n.158-39A>C) c.622A>C (p.Lys208Gln) | |
3 | g.133756893A>G | CA354604804 | TF | c.754A>G (p.Lys252Glu) c.373A>G (p.Lys125Glu) c.158-39A>G (n.158-39A>G) c.622A>G (p.Lys208Glu) | |
3 | g.133756893A>T | CA354604805 | TF | c.754A>T (p.Lys252Ter) c.373A>T (p.Lys125Ter) c.158-39A>T (n.158-39A>T) c.622A>T (p.Lys208Ter) | |
3 | g.133756894A= | CA1403107258 | TF | c.755A= (p.Lys252=) c.374A= (p.Lys125=) c.158-38A= (n.158-38A=) c.623A= (p.Lys208=) | |
3 | g.133756894A>C | CA354604806 | TF | c.755A>C (p.Lys252Thr) c.374A>C (p.Lys125Thr) c.158-38A>C (n.158-38A>C) c.623A>C (p.Lys208Thr) | |
3 | g.133756894A>G | CA354604807 | TF | c.755A>G (p.Lys252Arg) c.374A>G (p.Lys125Arg) c.158-38A>G (n.158-38A>G) c.623A>G (p.Lys208Arg) | dbSNP |
3 | g.133756894A>T | CA354604808 | TF | c.755A>T (p.Lys252Met) c.374A>T (p.Lys125Met) c.158-38A>T (n.158-38A>T) c.623A>T (p.Lys208Met) | |
3 | g.133756895G>A | CA2625090 | TF | c.756G>A (p.Lys252=) c.375G>A (p.Lys125=) c.158-37G>A (n.158-37G>A) c.624G>A (p.Lys208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756895G>C | CA354604810 | TF | c.756G>C (p.Lys252Asn) c.375G>C (p.Lys125Asn) c.158-37G>C (n.158-37G>C) c.624G>C (p.Lys208Asn) | |
3 | g.133756895G= | CA1403107260 | TF | c.756G= (p.Lys252=) c.375G= (p.Lys125=) c.158-37G= (n.158-37G=) c.624G= (p.Lys208=) | |
3 | g.133756895G>T | CA354604809 | TF | c.756G>T (p.Lys252Asn) c.375G>T (p.Lys125Asn) c.158-37G>T (n.158-37G>T) c.624G>T (p.Lys208Asn) | |
3 | g.133756896C>A | CA354604811 | TF | c.757C>A (p.Pro253Thr) c.376C>A (p.Pro126Thr) c.158-36C>A (n.158-36C>A) c.625C>A (p.Pro209Thr) | |
3 | g.133756896C= | CA1403107261 | TF | c.757C= (p.Pro253=) c.376C= (p.Pro126=) c.158-36C= (n.158-36C=) c.625C= (p.Pro209=) | |
3 | g.133756896C>G | CA354604812 | TF | c.757C>G (p.Pro253Ala) c.376C>G (p.Pro126Ala) c.158-36C>G (n.158-36C>G) c.625C>G (p.Pro209Ala) | |
3 | g.133756896C>T | CA2625091 | TF | c.757C>T (p.Pro253Ser) c.376C>T (p.Pro126Ser) c.158-36C>T (n.158-36C>T) c.625C>T (p.Pro209Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756897C>A | CA354604813 | TF | c.758C>A (p.Pro253Gln) c.377C>A (p.Pro126Gln) c.158-35C>A (n.158-35C>A) c.626C>A (p.Pro209Gln) | |
3 | g.133756897C= | CA1403107266 | TF | c.758C= (p.Pro253=) c.377C= (p.Pro126=) c.158-35C= (n.158-35C=) c.626C= (p.Pro209=) | |
3 | g.133756897C>G | CA354604814 | TF | c.758C>G (p.Pro253Arg) c.377C>G (p.Pro126Arg) c.158-35C>G (n.158-35C>G) c.626C>G (p.Pro209Arg) | |
3 | g.133756897C>T | CA2625092 | TF | c.758C>T (p.Pro253Leu) c.377C>T (p.Pro126Leu) c.158-35C>T (n.158-35C>T) c.626C>T (p.Pro209Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.133756898G>A | CA2625093 | TF | c.759G>A (p.Pro253=) c.378G>A (p.Pro126=) c.158-34G>A (n.158-34G>A) c.627G>A (p.Pro209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133756898G>C | CA435806394 | TF | c.759G>C (p.Pro253=) c.378G>C (p.Pro126=) c.158-34G>C (n.158-34G>C) c.627G>C (p.Pro209=) | |
3 | g.133756898G= | CA1403107274 | TF | c.759G= (p.Pro253=) c.378G= (p.Pro126=) c.158-34G= (n.158-34G=) c.627G= (p.Pro209=) | |
3 | g.133756898G>T | CA435806396 | TF | c.759G>T (p.Pro253=) c.378G>T (p.Pro126=) c.158-34G>T (n.158-34G>T) c.627G>T (p.Pro209=) | gnomAD v4 |
3 | g.133756899G>A | CA354604815 | TF | c.760G>A (p.Val254Ile) c.379G>A (p.Val127Ile) c.158-33G>A (n.158-33G>A) c.628G>A (p.Val210Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756899G>C | CA354604816 | TF | c.760G>C (p.Val254Leu) c.379G>C (p.Val127Leu) c.158-33G>C (n.158-33G>C) c.628G>C (p.Val210Leu) | |
3 | g.133756899G= | CA1403107277 | TF | c.760G= (p.Val254=) c.379G= (p.Val127=) c.158-33G= (n.158-33G=) c.628G= (p.Val210=) | |
3 | g.133756899G>T | CA354604817 | TF | c.760G>T (p.Val254Leu) c.379G>T (p.Val127Leu) c.158-33G>T (n.158-33G>T) c.628G>T (p.Val210Leu) | |
3 | g.133756900T>A | CA354604818 | TF | c.761T>A (p.Val254Glu) c.380T>A (p.Val127Glu) c.158-32T>A (n.158-32T>A) c.629T>A (p.Val210Glu) | |
3 | g.133756900T>C | CA354604819 | TF | c.761T>C (p.Val254Ala) c.380T>C (p.Val127Ala) c.158-32T>C (n.158-32T>C) c.629T>C (p.Val210Ala) | |
3 | g.133756900T>G | CA354604820 | TF | c.761T>G (p.Val254Gly) c.380T>G (p.Val127Gly) c.158-32T>G (n.158-32T>G) c.629T>G (p.Val210Gly) | |
3 | g.133756901A>C | CA435806405 | TF | c.762A>C (p.Val254=) c.381A>C (p.Val127=) c.158-31A>C (n.158-31A>C) c.630A>C (p.Val210=) | |
3 | g.133756901A>G | CA435806407 | TF | c.762A>G (p.Val254=) c.381A>G (p.Val127=) c.158-31A>G (n.158-31A>G) c.630A>G (p.Val210=) | |
3 | g.133756901A>T | CA435806409 | TF | c.762A>T (p.Val254=) c.381A>T (p.Val127=) c.158-31A>T (n.158-31A>T) c.630A>T (p.Val210=) | |
3 | g.133756902G>A | CA354604823 | TF | c.763G>A (p.Asp255Asn) c.382G>A (p.Asp128Asn) c.158-30G>A (n.158-30G>A) c.631G>A (p.Asp211Asn) | |
3 | g.133756902G>C | CA354604822 | TF | c.763G>C (p.Asp255His) c.382G>C (p.Asp128His) c.158-30G>C (n.158-30G>C) c.631G>C (p.Asp211His) | |
3 | g.133756902G>T | CA354604821 | TF | c.763G>T (p.Asp255Tyr) c.382G>T (p.Asp128Tyr) c.158-30G>T (n.158-30G>T) c.631G>T (p.Asp211Tyr) | |
3 | g.133756903A>C | CA354604824 | TF | c.764A>C (p.Asp255Ala) c.383A>C (p.Asp128Ala) c.158-29A>C (n.158-29A>C) c.632A>C (p.Asp211Ala) | |
3 | g.133756903A>G | CA354604825 | TF | c.764A>G (p.Asp255Gly) c.383A>G (p.Asp128Gly) c.158-29A>G (n.158-29A>G) c.632A>G (p.Asp211Gly) | |
3 | g.133756903A>T | CA354604826 | TF | c.764A>T (p.Asp255Val) c.383A>T (p.Asp128Val) c.158-29A>T (n.158-29A>T) c.632A>T (p.Asp211Val) | |
3 | g.133756904T>A | CA354604827 | TF | c.765T>A (p.Asp255Glu) c.384T>A (p.Asp128Glu) c.158-28T>A (n.158-28T>A) c.633T>A (p.Asp211Glu) | |
3 | g.133756904T>C | CA435806418 | TF | c.765T>C (p.Asp255=) c.384T>C (p.Asp128=) c.158-28T>C (n.158-28T>C) c.633T>C (p.Asp211=) | |
3 | g.133756904T>G | CA83674545 | TF | c.765T>G (p.Asp255Glu) c.384T>G (p.Asp128Glu) c.158-28T>G (n.158-28T>G) c.633T>G (p.Asp211Glu) | dbSNP |
3 | g.133756904T= | CA1403107280 | TF | c.765T= (p.Asp255=) c.384T= (p.Asp128=) c.158-28T= (n.158-28T=) c.633T= (p.Asp211=) | |
3 | g.133756905G>A | CA354604828 | TF | c.766G>A (p.Glu256Lys) c.385G>A (p.Glu129Lys) c.158-27G>A (n.158-27G>A) c.634G>A (p.Glu212Lys) | |
3 | g.133756905G>C | CA354604829 | TF | c.766G>C (p.Glu256Gln) c.385G>C (p.Glu129Gln) c.158-27G>C (n.158-27G>C) c.634G>C (p.Glu212Gln) | |
3 | g.133756905G>T | CA354604830 | TF | c.766G>T (p.Glu256Ter) c.385G>T (p.Glu129Ter) c.158-27G>T (n.158-27G>T) c.634G>T (p.Glu212Ter) | gnomAD v4 |
3 | g.133756906A>C | CA354604831 | TF | c.767A>C (p.Glu256Ala) c.386A>C (p.Glu129Ala) c.158-26A>C (n.158-26A>C) c.635A>C (p.Glu212Ala) | |
3 | g.133756906A>G | CA354604832 | TF | c.767A>G (p.Glu256Gly) c.386A>G (p.Glu129Gly) c.158-26A>G (n.158-26A>G) c.635A>G (p.Glu212Gly) | |
3 | g.133756906A>T | CA354604833 | TF | c.767A>T (p.Glu256Val) c.386A>T (p.Glu129Val) c.158-26A>T (n.158-26A>T) c.635A>T (p.Glu212Val) | |
3 | g.133756907A>C | CA354604834 | TF | c.768A>C (p.Glu256Asp) c.387A>C (p.Glu129Asp) c.158-25A>C (n.158-25A>C) c.636A>C (p.Glu212Asp) | |
3 | g.133756907A>G | CA435806429 | TF | c.768A>G (p.Glu256=) c.387A>G (p.Glu129=) c.158-25A>G (n.158-25A>G) c.636A>G (p.Glu212=) | gnomAD v4 |
3 | g.133756907A>T | CA354604835 | TF | c.768A>T (p.Glu256Asp) c.387A>T (p.Glu129Asp) c.158-25A>T (n.158-25A>T) c.636A>T (p.Glu212Asp) | |
3 | g.133756908T>A | CA354604838 | TF | c.769T>A (p.Tyr257Asn) c.388T>A (p.Tyr130Asn) c.158-24T>A (n.158-24T>A) c.637T>A (p.Tyr213Asn) | |
3 | g.133756908T>C | CA354604837 | TF | c.769T>C (p.Tyr257His) c.388T>C (p.Tyr130His) c.158-24T>C (n.158-24T>C) c.637T>C (p.Tyr213His) | gnomAD v4 |
3 | g.133756908T>G | CA354604836 | TF | c.769T>G (p.Tyr257Asp) c.388T>G (p.Tyr130Asp) c.158-24T>G (n.158-24T>G) c.637T>G (p.Tyr213Asp) | |
3 | g.133756909A= | CA1403107288 | TF | c.770A= (p.Tyr257=) c.389A= (p.Tyr130=) c.158-23A= (n.158-23A=) c.638A= (p.Tyr213=) | |
3 | g.133756909A>C | CA354604839 | TF | c.770A>C (p.Tyr257Ser) c.389A>C (p.Tyr130Ser) c.158-23A>C (n.158-23A>C) c.638A>C (p.Tyr213Ser) | |
3 | g.133756909A>G | CA354604840 | TF | c.770A>G (p.Tyr257Cys) c.389A>G (p.Tyr130Cys) c.158-23A>G (n.158-23A>G) c.638A>G (p.Tyr213Cys) | dbSNP |
3 | g.133756909A>T | CA354604841 | TF | c.770A>T (p.Tyr257Phe) c.389A>T (p.Tyr130Phe) c.158-23A>T (n.158-23A>T) c.638A>T (p.Tyr213Phe) | |
3 | g.133756910C>A | CA354604842 | TF | c.771C>A (p.Tyr257Ter) c.390C>A (p.Tyr130Ter) c.158-22C>A (n.158-22C>A) c.639C>A (p.Tyr213Ter) | |
3 | g.133756910C>G | CA354604843 | TF | c.771C>G (p.Tyr257Ter) c.390C>G (p.Tyr130Ter) c.158-22C>G (n.158-22C>G) c.639C>G (p.Tyr213Ter) | |
3 | g.133756910C>T | CA435806440 | TF | c.771C>T (p.Tyr257=) c.390C>T (p.Tyr130=) c.158-22C>T (n.158-22C>T) c.639C>T (p.Tyr213=) | gnomAD v4 |
3 | g.133756911A>C | CA354604844 | TF | c.772A>C (p.Lys258Gln) c.391A>C (p.Lys131Gln) c.158-21A>C (n.158-21A>C) c.640A>C (p.Lys214Gln) | |
3 | g.133756911A>G | CA354604845 | TF | c.772A>G (p.Lys258Glu) c.391A>G (p.Lys131Glu) c.158-21A>G (n.158-21A>G) c.640A>G (p.Lys214Glu) | |
3 | g.133756911A>T | CA354604846 | TF | c.772A>T (p.Lys258Ter) c.391A>T (p.Lys131Ter) c.158-21A>T (n.158-21A>T) c.640A>T (p.Lys214Ter) | |
3 | g.133756912A>C | CA354604847 | TF | c.773A>C (p.Lys258Thr) c.392A>C (p.Lys131Thr) c.158-20A>C (n.158-20A>C) c.641A>C (p.Lys214Thr) | |
3 | g.133756912A>G | CA354604848 | TF | c.773A>G (p.Lys258Arg) c.392A>G (p.Lys131Arg) c.158-20A>G (n.158-20A>G) c.641A>G (p.Lys214Arg) | |
3 | g.133756912A>T | CA354604849 | TF | c.773A>T (p.Lys258Met) c.392A>T (p.Lys131Met) c.158-20A>T (n.158-20A>T) c.641A>T (p.Lys214Met) | |
3 | g.133756913G>A | CA435806449 | TF | c.774G>A (p.Lys258=) c.393G>A (p.Lys131=) c.158-19G>A (n.158-19G>A) c.642G>A (p.Lys214=) | dbSNP COSMIC |
3 | g.133756913G>C | CA354604850 | TF | c.774G>C (p.Lys258Asn) c.393G>C (p.Lys131Asn) c.158-19G>C (n.158-19G>C) c.642G>C (p.Lys214Asn) | |
3 | g.133756913G= | CA1403107292 | TF | c.774G= (p.Lys258=) c.393G= (p.Lys131=) c.158-19G= (n.158-19G=) c.642G= (p.Lys214=) | |
3 | g.133756913G>T | CA354604851 | TF | c.774G>T (p.Lys258Asn) c.393G>T (p.Lys131Asn) c.158-19G>T (n.158-19G>T) c.642G>T (p.Lys214Asn) | |
3 | g.133756914G>A | CA354604853 | TF | c.775G>A (p.Asp259Asn) c.394G>A (p.Asp132Asn) c.158-18G>A (n.158-18G>A) c.643G>A (p.Asp215Asn) | gnomAD v4 |
3 | g.133756914G>C | CA354604854 | TF | c.775G>C (p.Asp259His) c.394G>C (p.Asp132His) c.158-18G>C (n.158-18G>C) c.643G>C (p.Asp215His) | |
3 | g.133756914G= | CA1403107294 | TF | c.775G= (p.Asp259=) c.394G= (p.Asp132=) c.158-18G= (n.158-18G=) c.643G= (p.Asp215=) | |
3 | g.133756914G>T | CA354604852 | TF | c.775G>T (p.Asp259Tyr) c.394G>T (p.Asp132Tyr) c.158-18G>T (n.158-18G>T) c.643G>T (p.Asp215Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133756915A>C | CA354604855 | TF | c.776A>C (p.Asp259Ala) c.395A>C (p.Asp132Ala) c.158-17A>C (n.158-17A>C) c.644A>C (p.Asp215Ala) | |
3 | g.133756915A>G | CA354604856 | TF | c.776A>G (p.Asp259Gly) c.395A>G (p.Asp132Gly) c.158-17A>G (n.158-17A>G) c.644A>G (p.Asp215Gly) | gnomAD v4 |
3 | g.133756915A>T | CA354604857 | TF | c.776A>T (p.Asp259Val) c.395A>T (p.Asp132Val) c.158-17A>T (n.158-17A>T) c.644A>T (p.Asp215Val) | |
3 | g.133756916C>A | CA354604858 | TF | c.777C>A (p.Asp259Glu) c.396C>A (p.Asp132Glu) c.158-16C>A (n.158-16C>A) c.645C>A (p.Asp215Glu) | |
3 | g.133756916C= | CA1403107296 | TF | c.777C= (p.Asp259=) c.396C= (p.Asp132=) c.158-16C= (n.158-16C=) c.645C= (p.Asp215=) | |
3 | g.133756916C>G | CA354604859 | TF | c.777C>G (p.Asp259Glu) c.396C>G (p.Asp132Glu) c.158-16C>G (n.158-16C>G) c.645C>G (p.Asp215Glu) | |
3 | g.133756916C>T | CA83674548 | TF | c.777C>T (p.Asp259=) c.396C>T (p.Asp132=) c.158-16C>T (n.158-16C>T) c.645C>T (p.Asp215=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133756917T>A | CA354604860 | TF | c.778T>A (p.Cys260Ser) c.397T>A (p.Cys133Ser) c.158-15T>A (n.158-15T>A) c.646T>A (p.Cys216Ser) | |
3 | g.133756917T>C | CA354604861 | TF | c.778T>C (p.Cys260Arg) c.397T>C (p.Cys133Arg) c.158-15T>C (n.158-15T>C) c.646T>C (p.Cys216Arg) | |
3 | g.133756917T>G | CA354604862 | TF | c.778T>G (p.Cys260Gly) c.397T>G (p.Cys133Gly) c.158-15T>G (n.158-15T>G) c.646T>G (p.Cys216Gly) | |
3 | g.133756918G>A | CA83674550 | TF | c.779G>A (p.Cys260Tyr) c.398G>A (p.Cys133Tyr) c.158-14G>A (n.158-14G>A) c.647G>A (p.Cys216Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133756918G>C | CA354604863 | TF | c.779G>C (p.Cys260Ser) c.398G>C (p.Cys133Ser) c.158-14G>C (n.158-14G>C) c.647G>C (p.Cys216Ser) | |
3 | g.133756918G= | CA1403107298 | TF | c.779G= (p.Cys260=) c.398G= (p.Cys133=) c.158-14G= (n.158-14G=) c.647G= (p.Cys216=) | |
3 | g.133756918G>T | CA354604864 | TF | c.779G>T (p.Cys260Phe) c.398G>T (p.Cys133Phe) c.158-14G>T (n.158-14G>T) c.647G>T (p.Cys216Phe) | |
3 | g.133756919C>A | CA354604866 | TF | c.780C>A (p.Cys260Ter) c.399C>A (p.Cys133Ter) c.158-13C>A (n.158-13C>A) c.648C>A (p.Cys216Ter) | |
3 | g.133756919C>G | CA354604865 | TF | c.780C>G (p.Cys260Trp) c.399C>G (p.Cys133Trp) c.158-13C>G (n.158-13C>G) c.648C>G (p.Cys216Trp) | |
3 | g.133756919C>T | CA435806473 | TF | c.780C>T (p.Cys260=) c.399C>T (p.Cys133=) c.158-13C>T (n.158-13C>T) c.648C>T (p.Cys216=) | |
3 | g.133756920C>A | CA354604867 | TF | c.781C>A (p.His261Asn) c.400C>A (p.His134Asn) c.158-12C>A (n.158-12C>A) c.649C>A (p.His217Asn) | |
3 | g.133756920C>G | CA354604868 | TF | c.781C>G (p.His261Asp) c.400C>G (p.His134Asp) c.158-12C>G (n.158-12C>G) c.649C>G (p.His217Asp) | |
3 | g.133756920C>T | CA354604869 | TF | c.781C>T (p.His261Tyr) c.400C>T (p.His134Tyr) c.158-12C>T (n.158-12C>T) c.649C>T (p.His217Tyr) | |
3 | g.133756921A= | CA1403107303 | TF | c.782A= (p.His261=) c.401A= (p.His134=) c.158-11A= (n.158-11A=) c.650A= (p.His217=) | |
3 | g.133756921A>C | CA354604870 | TF | c.782A>C (p.His261Pro) c.401A>C (p.His134Pro) c.158-11A>C (n.158-11A>C) c.650A>C (p.His217Pro) | dbSNP gnomAD v2 |
3 | g.133756921A>G | CA354604871 | TF | c.782A>G (p.His261Arg) c.401A>G (p.His134Arg) c.158-11A>G (n.158-11A>G) c.650A>G (p.His217Arg) | gnomAD v4 |
3 | g.133756921A>T | CA354604872 | TF | c.782A>T (p.His261Leu) c.401A>T (p.His134Leu) c.158-11A>T (n.158-11A>T) c.650A>T (p.His217Leu) | |
3 | g.133756922C>A | CA354604873 | TF | c.783C>A (p.His261Gln) c.402C>A (p.His134Gln) c.158-10C>A (n.158-10C>A) c.651C>A (p.His217Gln) | gnomAD v4 |
3 | g.133756922C= | CA1403107307 | TF | c.783C= (p.His261=) c.402C= (p.His134=) c.158-10C= (n.158-10C=) c.651C= (p.His217=) | |
3 | g.133756922C>G | CA354604874 | TF | c.783C>G (p.His261Gln) c.402C>G (p.His134Gln) c.158-10C>G (n.158-10C>G) c.651C>G (p.His217Gln) | |
3 | g.133756922C>T | CA435806484 | TF | c.783C>T (p.His261=) c.402C>T (p.His134=) c.158-10C>T (n.158-10C>T) c.651C>T (p.His217=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133756923T>A | CA354604875 | TF | c.784T>A (p.Leu262Met) c.403T>A c.158-9T>A (n.158-9T>A) c.652T>A (p.Leu218Met) c.403T>A (p.Leu135Met) | |
3 | g.133756923T>C | CA83674553 | TF | c.784T>C (p.Leu262=) c.403T>C c.158-9T>C (n.158-9T>C) c.652T>C (p.Leu218=) c.403T>C (p.Leu135=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133756923T>G | CA354604876 | TF | c.784T>G (p.Leu262Val) c.403T>G c.158-9T>G (n.158-9T>G) c.652T>G (p.Leu218Val) c.403T>G (p.Leu135Val) | |
3 | g.133756923T= | CA1403107313 | TF | c.784T= (p.Leu262=) c.403T= c.158-9T= (n.158-9T=) c.652T= (p.Leu218=) c.403T= (p.Leu135=) |