Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.169529639G>A | CA421737427 | F5 | c.5388C>T (p.Ser1796=) c.5403C>T (p.Ser1801=) c.4977C>T (p.Ser1659=) | |
1 | g.169529639G>C | CA421737431 | F5 | c.5388C>G (p.Ser1796=) c.5403C>G (p.Ser1801=) c.4977C>G (p.Ser1659=) | |
1 | g.169529639G>T | CA421737428 | F5 | c.5388C>A (p.Ser1796=) c.5403C>A (p.Ser1801=) c.4977C>A (p.Ser1659=) | |
1 | g.169529640G>A | CA343129475 | F5 | c.5387C>T (p.Ser1796Phe) c.5402C>T (p.Ser1801Phe) c.4976C>T (p.Ser1659Phe) | dbSNP gnomAD v4 |
1 | g.169529640G>C | CA343129468 | F5 | c.5387C>G (p.Ser1796Cys) c.5402C>G (p.Ser1801Cys) c.4976C>G (p.Ser1659Cys) | |
1 | g.169529640G= | CA1206135810 | F5 | c.5387C= (p.Ser1796=) c.5402C= (p.Ser1801=) c.4976C= (p.Ser1659=) | |
1 | g.169529640G>T | CA343129469 | F5 | c.5387C>A (p.Ser1796Tyr) c.5402C>A (p.Ser1801Tyr) c.4976C>A (p.Ser1659Tyr) | |
1 | g.169529641A= | CA1206135811 | F5 | c.5386T= (p.Ser1796=) c.5401T= (p.Ser1801=) c.4975T= (p.Ser1659=) | |
1 | g.169529641A>C | CA343129479 | F5 | c.5386T>G (p.Ser1796Ala) c.5401T>G (p.Ser1801Ala) c.4975T>G (p.Ser1659Ala) | gnomAD v4 |
1 | g.169529641A>G | CA343129481 | F5 | c.5386T>C (p.Ser1796Pro) c.5401T>C (p.Ser1801Pro) c.4975T>C (p.Ser1659Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169529641A>T | CA343129480 | F5 | c.5386T>A (p.Ser1796Thr) c.5401T>A (p.Ser1801Thr) c.4975T>A (p.Ser1659Thr) | gnomAD v4 |
1 | g.169529642T>A | CA421737440 | F5 | c.5385A>T (p.Thr1795=) c.5400A>T (p.Thr1800=) c.4974A>T (p.Thr1658=) | |
1 | g.169529642T>C | CA421737442 | F5 | c.5385A>G (p.Thr1795=) c.5400A>G (p.Thr1800=) c.4974A>G (p.Thr1658=) | |
1 | g.169529642T>G | CA421737444 | F5 | c.5385A>C (p.Thr1795=) c.5400A>C (p.Thr1800=) c.4974A>C (p.Thr1658=) | |
1 | g.169529643G>A | CA343129485 | F5 | c.5384C>T (p.Thr1795Ile) c.5399C>T (p.Thr1800Ile) c.4973C>T (p.Thr1658Ile) | |
1 | g.169529643G>C | CA343129491 | F5 | c.5384C>G (p.Thr1795Arg) c.5399C>G (p.Thr1800Arg) c.4973C>G (p.Thr1658Arg) | |
1 | g.169529643G>T | CA343129496 | F5 | c.5384C>A (p.Thr1795Lys) c.5399C>A (p.Thr1800Lys) c.4973C>A (p.Thr1658Lys) | |
1 | g.169529644T>A | CA343129501 | F5 | c.5383A>T (p.Thr1795Ser) c.5398A>T (p.Thr1800Ser) c.4972A>T (p.Thr1658Ser) | |
1 | g.169529644T>C | CA343129506 | F5 | c.5383A>G (p.Thr1795Ala) c.5398A>G (p.Thr1800Ala) c.4972A>G (p.Thr1658Ala) | |
1 | g.169529644T>G | CA1233516 | F5 | c.5383A>C (p.Thr1795Pro) c.5398A>C (p.Thr1800Pro) c.4972A>C (p.Thr1658Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169529644T= | CA1147202499 | F5 | c.5383A= (p.Thr1795=) c.5398A= (p.Thr1800=) c.4972A= (p.Thr1658=) | |
1 | g.169529645G>A | CA421737457 | F5 | c.5382C>T (p.Leu1794=) c.5397C>T (p.Leu1799=) c.4971C>T (p.Leu1657=) | |
1 | g.169529645G>C | CA421737459 | F5 | c.5382C>G (p.Leu1794=) c.5397C>G (p.Leu1799=) c.4971C>G (p.Leu1657=) | |
1 | g.169529645G>T | CA421737462 | F5 | c.5382C>A (p.Leu1794=) c.5397C>A (p.Leu1799=) c.4971C>A (p.Leu1657=) | |
1 | g.169529646A= | CA1206135812 | F5 | c.5381T= (p.Leu1794=) c.5396T= (p.Leu1799=) c.4970T= (p.Leu1657=) | |
1 | g.169529646A>C | CA343129517 | F5 | c.5381T>G (p.Leu1794Arg) c.5396T>G (p.Leu1799Arg) c.4970T>G (p.Leu1657Arg) | |
1 | g.169529646A>G | CA343129526 | F5 | c.5381T>C (p.Leu1794Pro) c.5396T>C (p.Leu1799Pro) c.4970T>C (p.Leu1657Pro) | |
1 | g.169529646A>T | CA343129532 | F5 | c.5381T>A (p.Leu1794His) c.5396T>A (p.Leu1799His) c.4970T>A (p.Leu1657His) | dbSNP |
1 | g.169529647G>A | CA343129535 | F5 | c.5380C>T (p.Leu1794Phe) c.5395C>T (p.Leu1799Phe) c.4969C>T (p.Leu1657Phe) | |
1 | g.169529647G>C | CA343129537 | F5 | c.5380C>G (p.Leu1794Val) c.5395C>G (p.Leu1799Val) c.4969C>G (p.Leu1657Val) | |
1 | g.169529647G>T | CA343129538 | F5 | c.5380C>A (p.Leu1794Ile) c.5395C>A (p.Leu1799Ile) c.4969C>A (p.Leu1657Ile) | |
1 | g.169529648T>A | CA343129542 | F5 | c.5379A>T (p.Arg1793Ser) c.5394A>T (p.Arg1798Ser) c.4968A>T (p.Arg1656Ser) | |
1 | g.169529648T>C | CA421737474 | F5 | c.5379A>G (p.Arg1793=) c.5394A>G (p.Arg1798=) c.4968A>G (p.Arg1656=) | |
1 | g.169529648T>G | CA343129541 | F5 | c.5379A>C (p.Arg1793Ser) c.5394A>C (p.Arg1798Ser) c.4968A>C (p.Arg1656Ser) | |
1 | g.169529649C>A | CA343129543 | F5 | c.5378G>T (p.Arg1793Ile) c.5393G>T (p.Arg1798Ile) c.4967G>T (p.Arg1656Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169529649C= | CA1206135813 | F5 | c.5378G= (p.Arg1793=) c.5393G= (p.Arg1798=) c.4967G= (p.Arg1656=) | |
1 | g.169529649C>G | CA343129545 | F5 | c.5378G>C (p.Arg1793Thr) c.5393G>C (p.Arg1798Thr) c.4967G>C (p.Arg1656Thr) | COSMIC |
1 | g.169529649C>T | CA343129547 | F5 | c.5378G>A (p.Arg1793Lys) c.5393G>A (p.Arg1798Lys) c.4967G>A (p.Arg1656Lys) | gnomAD v4 |
1 | g.169529650T>A | CA343129557 | F5 | c.5377A>T (p.Arg1793Ter) c.5392A>T (p.Arg1798Ter) c.4966A>T (p.Arg1656Ter) | |
1 | g.169529650T>C | CA343129559 | F5 | c.5377A>G (p.Arg1793Gly) c.5392A>G (p.Arg1798Gly) c.4966A>G (p.Arg1656Gly) | |
1 | g.169529650T>G | CA421737487 | F5 | c.5377A>C (p.Arg1793=) c.5392A>C (p.Arg1798=) c.4966A>C (p.Arg1656=) | |
1 | g.169529651C>A | CA343129587 | F5 | c.5376G>T (p.Trp1792Cys) c.5391G>T (p.Trp1797Cys) c.4965G>T (p.Trp1655Cys) | |
1 | g.169529651C= | CA1206135814 | F5 | c.5376G= (p.Trp1792=) c.5391G= (p.Trp1797=) c.4965G= (p.Trp1655=) | |
1 | g.169529651C>G | CA343129583 | F5 | c.5376G>C (p.Trp1792Cys) c.5391G>C (p.Trp1797Cys) c.4965G>C (p.Trp1655Cys) | |
1 | g.169529651C>T | CA1233517 | F5 | c.5376G>A (p.Trp1792Ter) c.5391G>A (p.Trp1797Ter) c.4965G>A (p.Trp1655Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.169529652C>A | CA343129594 | F5 | c.5375G>T (p.Trp1792Leu) c.5390G>T (p.Trp1797Leu) c.4964G>T (p.Trp1655Leu) | |
1 | g.169529652C= | CA1144440145 | F5 | c.5375G= (p.Trp1792=) c.5390G= (p.Trp1797=) c.4964G= (p.Trp1655=) | |
1 | g.169529652C>G | CA343129602 | F5 | c.5375G>C (p.Trp1792Ser) c.5390G>C (p.Trp1797Ser) c.4964G>C (p.Trp1655Ser) | |
1 | g.169529652C>T | CA1233518 | F5 | c.5375G>A (p.Trp1792Ter) c.5390G>A (p.Trp1797Ter) c.4964G>A (p.Trp1655Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169529653A>C | CA343129627 | F5 | c.5374T>G (p.Trp1792Gly) c.5389T>G (p.Trp1797Gly) c.4963T>G (p.Trp1655Gly) | |
1 | g.169529653A>G | CA343129628 | F5 | c.5374T>C (p.Trp1792Arg) c.5389T>C (p.Trp1797Arg) c.4963T>C (p.Trp1655Arg) | |
1 | g.169529653A>T | CA343129629 | F5 | c.5374T>A (p.Trp1792Arg) c.5389T>A (p.Trp1797Arg) c.4963T>A (p.Trp1655Arg) | |
1 | g.169529654A= | CA1206135815 | F5 | c.5373T= (p.Ser1791=) c.5388T= (p.Ser1796=) c.4962T= (p.Ser1654=) | |
1 | g.169529654A>C | CA421737504 | F5 | c.5373T>G (p.Ser1791=) c.5388T>G (p.Ser1796=) c.4962T>G (p.Ser1654=) | |
1 | g.169529654A>G | CA421737505 | F5 | c.5373T>C (p.Ser1791=) c.5388T>C (p.Ser1796=) c.4962T>C (p.Ser1654=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169529654A>T | CA421737506 | F5 | c.5373T>A (p.Ser1791=) c.5388T>A (p.Ser1796=) c.4962T>A (p.Ser1654=) | |
1 | g.169529655G>A | CA1233519 | F5 | c.5372C>T (p.Ser1791Phe) c.5387C>T (p.Ser1796Phe) c.4961C>T (p.Ser1654Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169529655G>C | CA343129642 | F5 | c.5372C>G (p.Ser1791Cys) c.5387C>G (p.Ser1796Cys) c.4961C>G (p.Ser1654Cys) | |
1 | g.169529655G= | CA1206135816 | F5 | c.5372C= (p.Ser1791=) c.5387C= (p.Ser1796=) c.4961C= (p.Ser1654=) | |
1 | g.169529655G>T | CA343129638 | F5 | c.5372C>A (p.Ser1791Tyr) c.5387C>A (p.Ser1796Tyr) c.4961C>A (p.Ser1654Tyr) | |
1 | g.169529656A>C | CA343129648 | F5 | c.5371T>G (p.Ser1791Ala) c.5386T>G (p.Ser1796Ala) c.4960T>G (p.Ser1654Ala) | |
1 | g.169529656A>G | CA343129653 | F5 | c.5371T>C (p.Ser1791Pro) c.5386T>C (p.Ser1796Pro) c.4960T>C (p.Ser1654Pro) | |
1 | g.169529656A>T | CA343129661 | F5 | c.5371T>A (p.Ser1791Thr) c.5386T>A (p.Ser1796Thr) c.4960T>A (p.Ser1654Thr) | |
1 | g.169529657A= | CA1143907211 | F5 | c.5370T= (p.Ser1790=) c.5385T= (p.Ser1795=) c.4959T= (p.Ser1653=) | |
1 | g.169529657A>C | CA343129676 | F5 | c.5370T>G (p.Ser1790Arg) c.5385T>G (p.Ser1795Arg) c.4959T>G (p.Ser1653Arg) | |
1 | g.169529657A>G | CA421737507 | F5 | c.5370T>C (p.Ser1790=) c.5385T>C (p.Ser1795=) c.4959T>C (p.Ser1653=) | |
1 | g.169529657A>T | CA1233520 | F5 | c.5370T>A (p.Ser1790Arg) c.5385T>A (p.Ser1795Arg) c.4959T>A (p.Ser1653Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169529658C>A | CA343129686 | F5 | c.5369G>T (p.Ser1790Ile) c.5384G>T (p.Ser1795Ile) c.4958G>T (p.Ser1653Ile) | |
1 | g.169529658C>G | CA343129690 | F5 | c.5369G>C (p.Ser1790Thr) c.5384G>C (p.Ser1795Thr) c.4958G>C (p.Ser1653Thr) | |
1 | g.169529658C>T | CA343129694 | F5 | c.5369G>A (p.Ser1790Asn) c.5384G>A (p.Ser1795Asn) c.4958G>A (p.Ser1653Asn) | |
1 | g.169529659T>A | CA343129708 | F5 | c.5368A>T (p.Ser1790Cys) c.5383A>T (p.Ser1795Cys) c.4957A>T (p.Ser1653Cys) | |
1 | g.169529659T>C | CA343129709 | F5 | c.5368A>G (p.Ser1790Gly) c.5383A>G (p.Ser1795Gly) c.4957A>G (p.Ser1653Gly) | |
1 | g.169529659T>G | CA343129710 | F5 | c.5368A>C (p.Ser1790Arg) c.5383A>C (p.Ser1795Arg) c.4957A>C (p.Ser1653Arg) | gnomAD v4 |
1 | g.169529660T>A | CA421737512 | F5 | c.5367A>T (p.Arg1789=) c.5382A>T (p.Arg1794=) c.4956A>T (p.Arg1652=) | |
1 | g.169529660T>C | CA421737513 | F5 | c.5367A>G (p.Arg1789=) c.5382A>G (p.Arg1794=) c.4956A>G (p.Arg1652=) | COSMIC |
1 | g.169529660T>G | CA421737515 | F5 | c.5367A>C (p.Arg1789=) c.5382A>C (p.Arg1794=) c.4956A>C (p.Arg1652=) | |
1 | g.169529661C>A | CA343129714 | F5 | c.5366G>T (p.Arg1789Leu) c.5381G>T (p.Arg1794Leu) c.4955G>T (p.Arg1652Leu) | |
1 | g.169529661C= | CA1206135817 | F5 | c.5366G= (p.Arg1789=) c.5381G= (p.Arg1794=) c.4955G= (p.Arg1652=) | |
1 | g.169529661C>G | CA343129717 | F5 | c.5366G>C (p.Arg1789Pro) c.5381G>C (p.Arg1794Pro) c.4955G>C (p.Arg1652Pro) | COSMIC |
1 | g.169529661C>T | CA1233521 | F5 | c.5366G>A (p.Arg1789Gln) c.5381G>A (p.Arg1794Gln) c.4955G>A (p.Arg1652Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169529662G>A | CA1233522 | F5 | c.5365C>T (p.Arg1789Ter) c.5380C>T (p.Arg1794Ter) c.4954C>T (p.Arg1652Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169529662G>C | CA343129730 | F5 | c.5365C>G (p.Arg1789Gly) c.5380C>G (p.Arg1794Gly) c.4954C>G (p.Arg1652Gly) | |
1 | g.169529662G= | CA1143506145 | F5 | c.5365C= (p.Arg1789=) c.5380C= (p.Arg1794=) c.4954C= (p.Arg1652=) | |
1 | g.169529662G>T | CA421737517 | F5 | c.5365C>A (p.Arg1789=) c.5380C>A (p.Arg1794=) c.4954C>A (p.Arg1652=) | |
1 | g.169529663G>A | CA421737518 | F5 | c.5364C>T (p.Ser1788=) c.5379C>T (p.Ser1793=) c.4953C>T (p.Ser1651=) | |
1 | g.169529663G>C | CA421737519 | F5 | c.5364C>G (p.Ser1788=) c.5379C>G (p.Ser1793=) c.4953C>G (p.Ser1651=) | |
1 | g.169529663G>T | CA421737520 | F5 | c.5364C>A (p.Ser1788=) c.5379C>A (p.Ser1793=) c.4953C>A (p.Ser1651=) | |
1 | g.169529664G>A | CA1233523 | F5 | c.5363C>T (p.Ser1788Phe) c.5378C>T (p.Ser1793Phe) c.4952C>T (p.Ser1651Phe) | dbSNP ExAC gnomAD v2 |
1 | g.169529664G>C | CA343129736 | F5 | c.5363C>G (p.Ser1788Cys) c.5378C>G (p.Ser1793Cys) c.4952C>G (p.Ser1651Cys) | |
1 | g.169529664G= | CA1149104587 | F5 | c.5363C= (p.Ser1788=) c.5378C= (p.Ser1793=) c.4952C= (p.Ser1651=) | |
1 | g.169529664G>T | CA343129738 | F5 | c.5363C>A (p.Ser1788Tyr) c.5378C>A (p.Ser1793Tyr) c.4952C>A (p.Ser1651Tyr) | COSMIC |
1 | g.169529665A>C | CA343129747 | F5 | c.5362T>G (p.Ser1788Ala) c.5377T>G (p.Ser1793Ala) c.4951T>G (p.Ser1651Ala) | |
1 | g.169529665A>G | CA343129758 | F5 | c.5362T>C (p.Ser1788Pro) c.5377T>C (p.Ser1793Pro) c.4951T>C (p.Ser1651Pro) | |
1 | g.169529665A>T | CA343129768 | F5 | c.5362T>A (p.Ser1788Thr) c.5377T>A (p.Ser1793Thr) c.4951T>A (p.Ser1651Thr) | COSMIC |
1 | g.169529666C>A | CA343129771 | F5 | c.5361G>T (p.Lys1787Asn) c.5376G>T (p.Lys1792Asn) c.4950G>T (p.Lys1650Asn) | gnomAD v4 |
1 | g.169529666C>G | CA343129772 | F5 | c.5361G>C (p.Lys1787Asn) c.5376G>C (p.Lys1792Asn) c.4950G>C (p.Lys1650Asn) | gnomAD v4 |
1 | g.169529666C>T | CA421737521 | F5 | c.5361G>A (p.Lys1787=) c.5376G>A (p.Lys1792=) c.4950G>A (p.Lys1650=) | |
1 | g.169529677_169529697dup | CA2649035353 | F5 | c.5341_5361dup (p.Lys1787_Ser1788insSerTrpTyrTyrGluLysLys) c.5356_5376dup (p.Lys1792_Ser1793insSerTrpTyrTyrGluLysLys) c.4930_4950dup (p.Lys1650_Ser1651insSerTrpTyrTyrGluLysLys) | gnomAD v4 |
1 | g.169529667T>A | CA343129775 | F5 | c.5360A>T (p.Lys1787Met) c.5375A>T (p.Lys1792Met) c.4949A>T (p.Lys1650Met) | |
1 | g.169529667T>C | CA343129778 | F5 | c.5360A>G (p.Lys1787Arg) c.5375A>G (p.Lys1792Arg) c.4949A>G (p.Lys1650Arg) | |
1 | g.169529667T>G | CA343129781 | F5 | c.5360A>C (p.Lys1787Thr) c.5375A>C (p.Lys1792Thr) c.4949A>C (p.Lys1650Thr) | |
1 | g.169529668T>A | CA343129788 | F5 | c.5359A>T (p.Lys1787Ter) c.5374A>T (p.Lys1792Ter) c.4948A>T (p.Lys1650Ter) | |
1 | g.169529668T>C | CA343129793 | F5 | c.5359A>G (p.Lys1787Glu) c.5374A>G (p.Lys1792Glu) c.4948A>G (p.Lys1650Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169529668T>G | CA343129792 | F5 | c.5359A>C (p.Lys1787Gln) c.5374A>C (p.Lys1792Gln) c.4948A>C (p.Lys1650Gln) | |
1 | g.169529668T= | CA1206135818 | F5 | c.5359A= (p.Lys1787=) c.5374A= (p.Lys1792=) c.4948A= (p.Lys1650=) | |
1 | g.169529669C>A | CA343129803 | F5 | c.5358G>T (p.Lys1786Asn) c.5373G>T (p.Lys1791Asn) c.4947G>T (p.Lys1649Asn) | |
1 | g.169529669C>G | CA343129809 | F5 | c.5358G>C (p.Lys1786Asn) c.5373G>C (p.Lys1791Asn) c.4947G>C (p.Lys1649Asn) | |
1 | g.169529669C>T | CA421737525 | F5 | c.5358G>A (p.Lys1786=) c.5373G>A (p.Lys1791=) c.4947G>A (p.Lys1649=) | |
1 | g.169529670T>A | CA343129811 | F5 | c.5357A>T (p.Lys1786Met) c.5372A>T (p.Lys1791Met) c.4946A>T (p.Lys1649Met) | |
1 | g.169529670T>C | CA343129817 | F5 | c.5357A>G (p.Lys1786Arg) c.5372A>G (p.Lys1791Arg) c.4946A>G (p.Lys1649Arg) | |
1 | g.169529670T>G | CA343129813 | F5 | c.5357A>C (p.Lys1786Thr) c.5372A>C (p.Lys1791Thr) c.4946A>C (p.Lys1649Thr) | |
1 | g.169529671T>A | CA343129821 | F5 | c.5356A>T (p.Lys1786Ter) c.5371A>T (p.Lys1791Ter) c.4945A>T (p.Lys1649Ter) | |
1 | g.169529671T>C | CA343129824 | F5 | c.5356A>G (p.Lys1786Glu) c.5371A>G (p.Lys1791Glu) c.4945A>G (p.Lys1649Glu) | |
1 | g.169529671T>G | CA343129833 | F5 | c.5356A>C (p.Lys1786Gln) c.5371A>C (p.Lys1791Gln) c.4945A>C (p.Lys1649Gln) | |
1 | g.169529672T>A | CA343129840 | F5 | c.5355A>T (p.Glu1785Asp) c.5370A>T (p.Glu1790Asp) c.4944A>T (p.Glu1648Asp) | |
1 | g.169529672T>C | CA421737537 | F5 | c.5355A>G (p.Glu1785=) c.5370A>G (p.Glu1790=) c.4944A>G (p.Glu1648=) | |
1 | g.169529672T>G | CA343129842 | F5 | c.5355A>C (p.Glu1785Asp) c.5370A>C (p.Glu1790Asp) c.4944A>C (p.Glu1648Asp) | gnomAD v4 |
1 | g.169529673T>A | CA343129846 | F5 | c.5354A>T (p.Glu1785Val) c.5369A>T (p.Glu1790Val) c.4943A>T (p.Glu1648Val) | |
1 | g.169529673T>C | CA343129848 | F5 | c.5354A>G (p.Glu1785Gly) c.5369A>G (p.Glu1790Gly) c.4943A>G (p.Glu1648Gly) | gnomAD v4 |
1 | g.169529673T>G | CA343129852 | F5 | c.5354A>C (p.Glu1785Ala) c.5369A>C (p.Glu1790Ala) c.4943A>C (p.Glu1648Ala) | |
1 | g.169529674C>A | CA343129855 | F5 | c.5353G>T (p.Glu1785Ter) c.5368G>T (p.Glu1790Ter) c.4942G>T (p.Glu1648Ter) | |
1 | g.169529674C>G | CA343129857 | F5 | c.5353G>C (p.Glu1785Gln) c.5368G>C (p.Glu1790Gln) c.4942G>C (p.Glu1648Gln) | |
1 | g.169529674C>T | CA343129861 | F5 | c.5353G>A (p.Glu1785Lys) c.5368G>A (p.Glu1790Lys) c.4942G>A (p.Glu1648Lys) | |
1 | g.169529675A>C | CA343129865 | F5 | c.5352T>G (p.Tyr1784Ter) c.5367T>G (p.Tyr1789Ter) c.4941T>G (p.Tyr1647Ter) | |
1 | g.169529675A>G | CA421737550 | F5 | c.5352T>C (p.Tyr1784=) c.5367T>C (p.Tyr1789=) c.4941T>C (p.Tyr1647=) | |
1 | g.169529675A>T | CA343129864 | F5 | c.5352T>A (p.Tyr1784Ter) c.5367T>A (p.Tyr1789Ter) c.4941T>A (p.Tyr1647Ter) | |
1 | g.169529676T>A | CA343129866 | F5 | c.5351A>T (p.Tyr1784Phe) c.5366A>T (p.Tyr1789Phe) c.4940A>T (p.Tyr1647Phe) | |
1 | g.169529676T>C | CA32434751 | F5 | c.5351A>G (p.Tyr1784Cys) c.5366A>G (p.Tyr1789Cys) c.4940A>G (p.Tyr1647Cys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169529676T>G | CA343129869 | F5 | c.5351A>C (p.Tyr1784Ser) c.5366A>C (p.Tyr1789Ser) c.4940A>C (p.Tyr1647Ser) | |
1 | g.169529676T= | CA1206135819 | F5 | c.5351A= (p.Tyr1784=) c.5366A= (p.Tyr1789=) c.4940A= (p.Tyr1647=) | |
1 | g.169529677A>C | CA343129877 | F5 | c.5350T>G (p.Tyr1784Asp) c.5365T>G (p.Tyr1789Asp) c.4939T>G (p.Tyr1647Asp) | |
1 | g.169529677A>G | CA343129882 | F5 | c.5350T>C (p.Tyr1784His) c.5365T>C (p.Tyr1789His) c.4939T>C (p.Tyr1647His) | gnomAD v4 |
1 | g.169529677A>T | CA343129885 | F5 | c.5350T>A (p.Tyr1784Asn) c.5365T>A (p.Tyr1789Asn) c.4939T>A (p.Tyr1647Asn) | |
1 | g.169529678G>A | CA421737573 | F5 | c.5349C>T (p.Tyr1783=) c.5364C>T (p.Tyr1788=) c.4938C>T (p.Tyr1646=) | |
1 | g.169529678G>C | CA343129887 | F5 | c.5349C>G (p.Tyr1783Ter) c.5364C>G (p.Tyr1788Ter) c.4938C>G (p.Tyr1646Ter) | |
1 | g.169529678G>T | CA343129888 | F5 | c.5349C>A (p.Tyr1783Ter) c.5364C>A (p.Tyr1788Ter) c.4938C>A (p.Tyr1646Ter) | |
1 | g.169529679T>A | CA343129890 | F5 | c.5348A>T (p.Tyr1783Phe) c.5363A>T (p.Tyr1788Phe) c.4937A>T (p.Tyr1646Phe) | |
1 | g.169529679T>C | CA343129892 | F5 | c.5348A>G (p.Tyr1783Cys) c.5363A>G (p.Tyr1788Cys) c.4937A>G (p.Tyr1646Cys) | |
1 | g.169529679T>G | CA343129894 | F5 | c.5348A>C (p.Tyr1783Ser) c.5363A>C (p.Tyr1788Ser) c.4937A>C (p.Tyr1646Ser) | |
1 | g.169529680A= | CA1144427972 | F5 | c.5347T= (p.Tyr1783=) c.5362T= (p.Tyr1788=) c.4936T= (p.Tyr1646=) | |
1 | g.169529680A>C | CA343129897 | F5 | c.5347T>G (p.Tyr1783Asp) c.5362T>G (p.Tyr1788Asp) c.4936T>G (p.Tyr1646Asp) | gnomAD v4 |
1 | g.169529680A>G | CA32434766 | F5 | c.5347T>C (p.Tyr1783His) c.5362T>C (p.Tyr1788His) c.4936T>C (p.Tyr1646His) | dbSNP COSMIC |
1 | g.169529680A>T | CA343129896 | F5 | c.5347T>A (p.Tyr1783Asn) c.5362T>A (p.Tyr1788Asn) c.4936T>A (p.Tyr1646Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169529681C>A | CA343129900 | F5 | c.5346G>T (p.Trp1782Cys) c.5361G>T (p.Trp1787Cys) c.4935G>T (p.Trp1645Cys) | |
1 | g.169529681C= | CA1206135820 | F5 | c.5346G= (p.Trp1782=) c.5361G= (p.Trp1787=) c.4935G= (p.Trp1645=) | |
1 | g.169529681C>G | CA343129903 | F5 | c.5346G>C (p.Trp1782Cys) c.5361G>C (p.Trp1787Cys) c.4935G>C (p.Trp1645Cys) | |
1 | g.169529681C>T | CA1233524 | F5 | c.5346G>A (p.Trp1782Ter) c.5361G>A (p.Trp1787Ter) c.4935G>A (p.Trp1645Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169529682C>A | CA343129907 | F5 | c.5345G>T (p.Trp1782Leu) c.5360G>T (p.Trp1787Leu) c.4934G>T (p.Trp1645Leu) | COSMIC |
1 | g.169529682C>G | CA343129910 | F5 | c.5345G>C (p.Trp1782Ser) c.5360G>C (p.Trp1787Ser) c.4934G>C (p.Trp1645Ser) | |
1 | g.169529682C>T | CA343129916 | F5 | c.5345G>A (p.Trp1782Ter) c.5360G>A (p.Trp1787Ter) c.4934G>A (p.Trp1645Ter) | |
1 | g.169529683A>C | CA343129918 | F5 | c.5344T>G (p.Trp1782Gly) c.5359T>G (p.Trp1787Gly) c.4933T>G (p.Trp1645Gly) | |
1 | g.169529683A>G | CA343129920 | F5 | c.5344T>C (p.Trp1782Arg) c.5359T>C (p.Trp1787Arg) c.4933T>C (p.Trp1645Arg) | |
1 | g.169529683A>T | CA343129923 | F5 | c.5344T>A (p.Trp1782Arg) c.5359T>A (p.Trp1787Arg) c.4933T>A (p.Trp1645Arg) | |
1 | g.169529684G>A | CA421737617 | F5 | c.5343C>T (p.Ser1781=) c.5358C>T (p.Ser1786=) c.4932C>T (p.Ser1644=) | |
1 | g.169529684G>C | CA343129925 | F5 | c.5343C>G (p.Ser1781Arg) c.5358C>G (p.Ser1786Arg) c.4932C>G (p.Ser1644Arg) | |
1 | g.169529684G>T | CA343129927 | F5 | c.5343C>A (p.Ser1781Arg) c.5358C>A (p.Ser1786Arg) c.4932C>A (p.Ser1644Arg) | |
1 | g.169529685C>A | CA343129935 | F5 | c.5342G>T (p.Ser1781Ile) c.5357G>T (p.Ser1786Ile) c.4931G>T (p.Ser1644Ile) | |
1 | g.169529685C>G | CA343129931 | F5 | c.5342G>C (p.Ser1781Thr) c.5357G>C (p.Ser1786Thr) c.4931G>C (p.Ser1644Thr) | |
1 | g.169529685C>T | CA343129929 | F5 | c.5342G>A (p.Ser1781Asn) c.5357G>A (p.Ser1786Asn) c.4931G>A (p.Ser1644Asn) | gnomAD v4 |
1 | g.169529686T>A | CA343129938 | F5 | c.5341A>T (p.Ser1781Cys) c.5356A>T (p.Ser1786Cys) c.4930A>T (p.Ser1644Cys) | |
1 | g.169529686T>C | CA343129940 | F5 | c.5341A>G (p.Ser1781Gly) c.5356A>G (p.Ser1786Gly) c.4930A>G (p.Ser1644Gly) | |
1 | g.169529686T>G | CA343129943 | F5 | c.5341A>C (p.Ser1781Arg) c.5356A>C (p.Ser1786Arg) c.4930A>C (p.Ser1644Arg) | |
1 | g.169529687C>A | CA343129946 | F5 | c.5340G>T (p.Lys1780Asn) c.5355G>T (p.Lys1785Asn) c.4929G>T (p.Lys1643Asn) | |
1 | g.169529687C>G | CA343129964 | F5 | c.5340G>C (p.Lys1780Asn) c.5355G>C (p.Lys1785Asn) c.4929G>C (p.Lys1643Asn) | |
1 | g.169529687C>T | CA421737635 | F5 | c.5340G>A (p.Lys1780=) c.5355G>A (p.Lys1785=) c.4929G>A (p.Lys1643=) | |
1 | g.169529688T>A | CA343129966 | F5 | c.5339A>T (p.Lys1780Met) c.5354A>T (p.Lys1785Met) c.4928A>T (p.Lys1643Met) | |
1 | g.169529688T>C | CA343129968 | F5 | c.5339A>G (p.Lys1780Arg) c.5354A>G (p.Lys1785Arg) c.4928A>G (p.Lys1643Arg) | |
1 | g.169529688T>G | CA343129971 | F5 | c.5339A>C (p.Lys1780Thr) c.5354A>C (p.Lys1785Thr) c.4928A>C (p.Lys1643Thr) | |
1 | g.169529689T>A | CA343129974 | F5 | c.5338A>T (p.Lys1780Ter) c.5353A>T (p.Lys1785Ter) c.4927A>T (p.Lys1643Ter) | |
1 | g.169529689T>C | CA343129976 | F5 | c.5338A>G (p.Lys1780Glu) c.5353A>G (p.Lys1785Glu) c.4927A>G (p.Lys1643Glu) | |
1 | g.169529689T>G | CA343129979 | F5 | c.5338A>C (p.Lys1780Gln) c.5353A>C (p.Lys1785Gln) c.4927A>C (p.Lys1643Gln) | |
1 | g.169529690C>A | CA343129980 | F5 | c.5337G>T (p.Lys1779Asn) c.5352G>T (p.Lys1784Asn) c.4926G>T (p.Lys1642Asn) | |
1 | g.169529690C>G | CA343129981 | F5 | c.5337G>C (p.Lys1779Asn) c.5352G>C (p.Lys1784Asn) c.4926G>C (p.Lys1642Asn) | |
1 | g.169529690C>T | CA421737669 | F5 | c.5337G>A (p.Lys1779=) c.5352G>A (p.Lys1784=) c.4926G>A (p.Lys1642=) | |
1 | g.169529691T>A | CA343129986 | F5 | c.5336A>T (p.Lys1779Met) c.5351A>T (p.Lys1784Met) c.4925A>T (p.Lys1642Met) | |
1 | g.169529691T>C | CA32434778 | F5 | c.5336A>G (p.Lys1779Arg) c.5351A>G (p.Lys1784Arg) c.4925A>G (p.Lys1642Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169529691T>G | CA343129984 | F5 | c.5336A>C (p.Lys1779Thr) c.5351A>C (p.Lys1784Thr) c.4925A>C (p.Lys1642Thr) | |
1 | g.169529691T= | CA1206135821 | F5 | c.5336A= (p.Lys1779=) c.5351A= (p.Lys1784=) c.4925A= (p.Lys1642=) | |
1 | g.169529694del | CA2574085083 | F5 | c.5336del (p.Lys1779ArgfsTer21) c.5351del (p.Lys1784ArgfsTer21) c.4925del (p.Lys1642ArgfsTer21) | |
1 | g.169529692T>A | CA343129989 | F5 | c.5335A>T (p.Lys1779Ter) c.5350A>T (p.Lys1784Ter) c.4924A>T (p.Lys1642Ter) | |
1 | g.169529692T>C | CA343129994 | F5 | c.5335A>G (p.Lys1779Glu) c.5350A>G (p.Lys1784Glu) c.4924A>G (p.Lys1642Glu) | |
1 | g.169529692T>G | CA343129997 | F5 | c.5335A>C (p.Lys1779Gln) c.5350A>C (p.Lys1784Gln) c.4924A>C (p.Lys1642Gln) | |
1 | g.169529693T>A | CA343130006 | F5 | c.5334A>T (p.Glu1778Asp) c.5349A>T (p.Glu1783Asp) c.4923A>T (p.Glu1641Asp) | |
1 | g.169529693T>C | CA421737704 | F5 | c.5334A>G (p.Glu1778=) c.5349A>G (p.Glu1783=) c.4923A>G (p.Glu1641=) | |
1 | g.169529693T>G | CA343130011 | F5 | c.5334A>C (p.Glu1778Asp) c.5349A>C (p.Glu1783Asp) c.4923A>C (p.Glu1641Asp) | |
1 | g.169529694T>A | CA343130015 | F5 | c.5333A>T (p.Glu1778Val) c.5348A>T (p.Glu1783Val) c.4922A>T (p.Glu1641Val) | |
1 | g.169529694T>C | CA343130017 | F5 | c.5333A>G (p.Glu1778Gly) c.5348A>G (p.Glu1783Gly) c.4922A>G (p.Glu1641Gly) | |
1 | g.169529694T>G | CA343130018 | F5 | c.5333A>C (p.Glu1778Ala) c.5348A>C (p.Glu1783Ala) c.4922A>C (p.Glu1641Ala) | |
1 | g.169529695C>A | CA343130022 | F5 | c.5332G>T (p.Glu1778Ter) c.5347G>T (p.Glu1783Ter) c.4921G>T (p.Glu1641Ter) | gnomAD v4 |
1 | g.169529695C= | CA1206135822 | F5 | c.5332G= (p.Glu1778=) c.5347G= (p.Glu1783=) c.4921G= (p.Glu1641=) | |
1 | g.169529695C>G | CA10608707 | F5 | c.5332G>C (p.Glu1778Gln) c.5347G>C (p.Glu1783Gln) c.4921G>C (p.Glu1641Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169529695C>T | CA343130030 | F5 | c.5332G>A (p.Glu1778Lys) c.5347G>A (p.Glu1783Lys) c.4921G>A (p.Glu1641Lys) | |
1 | g.169529696A= | CA1206135823 | F5 | c.5331T= (p.Asp1777=) c.5346T= (p.Asp1782=) c.4920T= (p.Asp1640=) | |
1 | g.169529696A>C | CA343130061 | F5 | c.5331T>G (p.Asp1777Glu) c.5346T>G (p.Asp1782Glu) c.4920T>G (p.Asp1640Glu) | dbSNP |
1 | g.169529696A>G | CA421737717 | F5 | c.5331T>C (p.Asp1777=) c.5346T>C (p.Asp1782=) c.4920T>C (p.Asp1640=) | dbSNP |
1 | g.169529696A>T | CA343130072 | F5 | c.5331T>A (p.Asp1777Glu) c.5346T>A (p.Asp1782Glu) c.4920T>A (p.Asp1640Glu) | |
1 | g.169529697T>A | CA343130101 | F5 | c.5330A>T (p.Asp1777Val) c.5345A>T (p.Asp1782Val) c.4919A>T (p.Asp1640Val) | |
1 | g.169529697T>C | CA343130095 | F5 | c.5330A>G (p.Asp1777Gly) c.5345A>G (p.Asp1782Gly) c.4919A>G (p.Asp1640Gly) | |
1 | g.169529697T>G | CA343130087 | F5 | c.5330A>C (p.Asp1777Ala) c.5345A>C (p.Asp1782Ala) c.4919A>C (p.Asp1640Ala) | |
1 | g.169529697dup | CA527131148 | F5 | c.5330dup (p.Asp1777GlufsTer2) c.5345dup (p.Asp1782GlufsTer2) c.4919dup (p.Asp1640GlufsTer2) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169529698C>A | CA343130119 | F5 | c.5329G>T (p.Asp1777Tyr) c.5344G>T (p.Asp1782Tyr) c.4918G>T (p.Asp1640Tyr) | |
1 | g.169529698C>G | CA343130122 | F5 | c.5329G>C (p.Asp1777His) c.5344G>C (p.Asp1782His) c.4918G>C (p.Asp1640His) | |
1 | g.169529698C>T | CA343130123 | F5 | c.5329G>A (p.Asp1777Asn) c.5344G>A (p.Asp1782Asn) c.4918G>A (p.Asp1640Asn) | gnomAD v4 |
1 | g.169529699A>C | CA343130127 | F5 | c.5328T>G (p.Phe1776Leu) c.5343T>G (p.Phe1781Leu) c.4917T>G (p.Phe1639Leu) | gnomAD v4 |
1 | g.169529699A>G | CA421737743 | F5 | c.5328T>C (p.Phe1776=) c.5343T>C (p.Phe1781=) c.4917T>C (p.Phe1639=) | |
1 | g.169529699A>T | CA343130129 | F5 | c.5328T>A (p.Phe1776Leu) c.5343T>A (p.Phe1781Leu) c.4917T>A (p.Phe1639Leu) | gnomAD v4 |
1 | g.169529700A>C | CA343130139 | F5 | c.5327T>G (p.Phe1776Cys) c.5342T>G (p.Phe1781Cys) c.4916T>G (p.Phe1639Cys) | gnomAD v4 |
1 | g.169529700A>G | CA343130145 | F5 | c.5327T>C (p.Phe1776Ser) c.5342T>C (p.Phe1781Ser) c.4916T>C (p.Phe1639Ser) | |
1 | g.169529700A>T | CA343130148 | F5 | c.5327T>A (p.Phe1776Tyr) c.5342T>A (p.Phe1781Tyr) c.4916T>A (p.Phe1639Tyr) | |
1 | g.169529701A= | CA1145834984 | F5 | c.5326T= (p.Phe1776=) c.5341T= (p.Phe1781=) c.4915T= (p.Phe1639=) | |
1 | g.169529701A>C | CA343130154 | F5 | c.5326T>G (p.Phe1776Val) c.5341T>G (p.Phe1781Val) c.4915T>G (p.Phe1639Val) | |
1 | g.169529701A>G | CA343130159 | F5 | c.5326T>C (p.Phe1776Leu) c.5341T>C (p.Phe1781Leu) c.4915T>C (p.Phe1639Leu) | |
1 | g.169529701A>T | CA1233525 | F5 | c.5326T>A (p.Phe1776Ile) c.5341T>A (p.Phe1781Ile) c.4915T>A (p.Phe1639Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169529702G>A | CA421737755 | F5 | c.5325C>T (p.Thr1775=) c.5340C>T (p.Thr1780=) c.4914C>T (p.Thr1638=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.169529702G>C | CA421737757 | F5 | c.5325C>G (p.Thr1775=) c.5340C>G (p.Thr1780=) c.4914C>G (p.Thr1638=) | |
1 | g.169529702G= | CA1206135824 | F5 | c.5325C= (p.Thr1775=) c.5340C= (p.Thr1780=) c.4914C= (p.Thr1638=) | |
1 | g.169529702G>T | CA421737759 | F5 | c.5325C>A (p.Thr1775=) c.5340C>A (p.Thr1780=) c.4914C>A (p.Thr1638=) | |
1 | g.169529703G>A | CA343130164 | F5 | c.5324C>T (p.Thr1775Ile) c.5339C>T (p.Thr1780Ile) c.4913C>T (p.Thr1638Ile) | gnomAD v4 |
1 | g.169529703G>C | CA343130169 | F5 | c.5324C>G (p.Thr1775Ser) c.5339C>G (p.Thr1780Ser) c.4913C>G (p.Thr1638Ser) | gnomAD v4 |
1 | g.169529703G= | CA1206135825 | F5 | c.5324C= (p.Thr1775=) c.5339C= (p.Thr1780=) c.4913C= (p.Thr1638=) | |
1 | g.169529703G>T | CA343130173 | F5 | c.5324C>A (p.Thr1775Asn) c.5339C>A (p.Thr1780Asn) c.4913C>A (p.Thr1638Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169529704T>A | CA343130181 | F5 | c.5323A>T (p.Thr1775Ser) c.5338A>T (p.Thr1780Ser) c.4912A>T (p.Thr1638Ser) | |
1 | g.169529704T>C | CA32434781 | F5 | c.5323A>G (p.Thr1775Ala) c.5338A>G (p.Thr1780Ala) c.4912A>G (p.Thr1638Ala) | dbSNP |
1 | g.169529704T>G | CA343130176 | F5 | c.5323A>C (p.Thr1775Pro) c.5338A>C (p.Thr1780Pro) c.4912A>C (p.Thr1638Pro) | |
1 | g.169529704T= | CA1206135826 | F5 | c.5323A= (p.Thr1775=) c.5338A= (p.Thr1780=) c.4912A= (p.Thr1638=) | |
1 | g.169529705C>A | CA343130187 | F5 | c.5322G>T (p.Met1774Ile) c.5337G>T (p.Met1779Ile) c.4911G>T (p.Met1637Ile) | |
1 | g.169529705C>G | CA343130216 | F5 | c.5322G>C (p.Met1774Ile) c.5337G>C (p.Met1779Ile) c.4911G>C (p.Met1637Ile) | |
1 | g.169529705C>T | CA343130218 | F5 | c.5322G>A (p.Met1774Ile) c.5337G>A (p.Met1779Ile) c.4911G>A (p.Met1637Ile) | |
1 | g.169529706A= | CA1206135827 | F5 | c.5321T= (p.Met1774=) c.5336T= (p.Met1779=) c.4910T= (p.Met1637=) | |
1 | g.169529706A>C | CA343130220 | F5 | c.5321T>G (p.Met1774Arg) c.5336T>G (p.Met1779Arg) c.4910T>G (p.Met1637Arg) | |
1 | g.169529706A>G | CA343130223 | F5 | c.5321T>C (p.Met1774Thr) c.5336T>C (p.Met1779Thr) c.4910T>C (p.Met1637Thr) | dbSNP |
1 | g.169529706A>T | CA343130226 | F5 | c.5321T>A (p.Met1774Lys) c.5336T>A (p.Met1779Lys) c.4910T>A (p.Met1637Lys) | |
1 | g.169529707_169529708del | CA2746574112 | F5 | c.5320_5321del (p.Met1774AspfsTer3) c.5335_5336del (p.Met1779AspfsTer3) c.4909_4910del (p.Met1637AspfsTer3) | |
1 | g.169529707T>A | CA343130241 | F5 | c.5320A>T (p.Met1774Leu) c.5335A>T (p.Met1779Leu) c.4909A>T (p.Met1637Leu) | |
1 | g.169529707T>C | CA343130234 | F5 | c.5320A>G (p.Met1774Val) c.5335A>G (p.Met1779Val) c.4909A>G (p.Met1637Val) | gnomAD v4 |
1 | g.169529707T>G | CA343130238 | F5 | c.5320A>C (p.Met1774Leu) c.5335A>C (p.Met1779Leu) c.4909A>C (p.Met1637Leu) | |
1 | g.169529707T= | CA1206135828 | F5 | c.5320A= (p.Met1774=) c.5335A= (p.Met1779=) c.4909A= (p.Met1637=) | |
1 | g.169529708A>C | CA343130245 | F5 | c.5319T>G (p.Phe1773Leu) c.5334T>G (p.Phe1778Leu) c.4908T>G (p.Phe1636Leu) | |
1 | g.169529708A>G | CA421737770 | F5 | c.5319T>C (p.Phe1773=) c.5334T>C (p.Phe1778=) c.4908T>C (p.Phe1636=) | |
1 | g.169529708A>T | CA343130249 | F5 | c.5319T>A (p.Phe1773Leu) c.5334T>A (p.Phe1778Leu) c.4908T>A (p.Phe1636Leu) | |
1 | g.169529710dup | CA527131149 | F5 | c.5319dup (p.Met1774TyrfsTer4) c.5334dup (p.Met1779TyrfsTer4) c.4908dup (p.Met1637TyrfsTer4) | dbSNP gnomAD v2 |
1 | g.169529709A>C | CA343130262 | F5 | c.5318T>G (p.Phe1773Cys) c.5333T>G (p.Phe1778Cys) c.4907T>G (p.Phe1636Cys) | |
1 | g.169529709A>G | CA343130264 | F5 | c.5318T>C (p.Phe1773Ser) c.5333T>C (p.Phe1778Ser) c.4907T>C (p.Phe1636Ser) | |
1 | g.169529709A>T | CA343130267 | F5 | c.5318T>A (p.Phe1773Tyr) c.5333T>A (p.Phe1778Tyr) c.4907T>A (p.Phe1636Tyr) | |
1 | g.169529710A>C | CA343130282 | F5 | c.5317T>G (p.Phe1773Val) c.5332T>G (p.Phe1778Val) c.4906T>G (p.Phe1636Val) | |
1 | g.169529710A>G | CA343130288 | F5 | c.5317T>C (p.Phe1773Leu) c.5332T>C (p.Phe1778Leu) c.4906T>C (p.Phe1636Leu) | |
1 | g.169529710A>T | CA343130285 | F5 | c.5317T>A (p.Phe1773Ile) c.5332T>A (p.Phe1778Ile) c.4906T>A (p.Phe1636Ile) | |
1 | g.169529711T>A | CA421737777 | F5 | c.5316A>T (p.Leu1772=) c.5331A>T (p.Leu1777=) c.4905A>T (p.Leu1635=) | |
1 | g.169529711T>C | CA421737779 | F5 | c.5316A>G (p.Leu1772=) c.5331A>G (p.Leu1777=) c.4905A>G (p.Leu1635=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169529711T>G | CA1233526 | F5 | c.5316A>C (p.Leu1772=) c.5331A>C (p.Leu1777=) c.4905A>C (p.Leu1635=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169529711T= | CA1148250655 | F5 | c.5316A= (p.Leu1772=) c.5331A= (p.Leu1777=) c.4905A= (p.Leu1635=) | |
1 | g.169529712A>C | CA343130299 | F5 | c.5315T>G (p.Leu1772Arg) c.5330T>G (p.Leu1777Arg) c.4904T>G (p.Leu1635Arg) | |
1 | g.169529712A>G | CA343130301 | F5 | c.5315T>C (p.Leu1772Pro) c.5330T>C (p.Leu1777Pro) c.4904T>C (p.Leu1635Pro) | |
1 | g.169529712A>T | CA343130306 | F5 | c.5315T>A (p.Leu1772Gln) c.5330T>A (p.Leu1777Gln) c.4904T>A (p.Leu1635Gln) | gnomAD v4 |
1 | g.169529713G>A | CA421737785 | F5 | c.5314C>T (p.Leu1772=) c.5329C>T (p.Leu1777=) c.4903C>T (p.Leu1635=) | gnomAD v4 |
1 | g.169529713G>C | CA343130310 | F5 | c.5314C>G (p.Leu1772Val) c.5329C>G (p.Leu1777Val) c.4903C>G (p.Leu1635Val) | |
1 | g.169529713G>T | CA343130311 | F5 | c.5314C>A (p.Leu1772Ile) c.5329C>A (p.Leu1777Ile) c.4903C>A (p.Leu1635Ile) | |
1 | g.169529714T>A | CA343130312 | F5 | c.5313A>T (p.Leu1771Phe) c.5328A>T (p.Leu1776Phe) c.4902A>T (p.Leu1634Phe) | |
1 | g.169529714T>C | CA421737792 | F5 | c.5313A>G (p.Leu1771=) c.5328A>G (p.Leu1776=) c.4902A>G (p.Leu1634=) | |
1 | g.169529714T>G | CA343130313 | F5 | c.5313A>C (p.Leu1771Phe) c.5328A>C (p.Leu1776Phe) c.4902A>C (p.Leu1634Phe) | |
1 | g.169529715A>C | CA343130314 | F5 | c.5312T>G (p.Leu1771Ter) c.5327T>G (p.Leu1776Ter) c.4901T>G (p.Leu1634Ter) | |
1 | g.169529715A>G | CA343130315 | F5 | c.5312T>C (p.Leu1771Ser) c.5327T>C (p.Leu1776Ser) c.4901T>C (p.Leu1634Ser) | |
1 | g.169529715A>T | CA343130316 | F5 | c.5312T>A (p.Leu1771Ter) c.5327T>A (p.Leu1776Ter) c.4901T>A (p.Leu1634Ter) | |
1 | g.169529716A>C | CA343130318 | F5 | c.5311T>G (p.Leu1771Val) c.5326T>G (p.Leu1776Val) c.4900T>G (p.Leu1634Val) | |
1 | g.169529716A>G | CA421737802 | F5 | c.5311T>C (p.Leu1771=) c.5326T>C (p.Leu1776=) c.4900T>C (p.Leu1634=) | |
1 | g.169529716A>T | CA343130320 | F5 | c.5311T>A (p.Leu1771Ile) c.5326T>A (p.Leu1776Ile) c.4900T>A (p.Leu1634Ile) | |
1 | g.169529717G>A | CA421737808 | F5 | c.5310C>T (p.Val1770=) c.5325C>T (p.Val1775=) c.4899C>T (p.Val1633=) | |
1 | g.169529717G>C | CA421737804 | F5 | c.5310C>G (p.Val1770=) c.5325C>G (p.Val1775=) c.4899C>G (p.Val1633=) | gnomAD v4 |
1 | g.169529717G>T | CA421737806 | F5 | c.5310C>A (p.Val1770=) c.5325C>A (p.Val1775=) c.4899C>A (p.Val1633=) | |
1 | g.169529718A>C | CA343130325 | F5 | c.5309T>G (p.Val1770Gly) c.5324T>G (p.Val1775Gly) c.4898T>G (p.Val1633Gly) | |
1 | g.169529718A>G | CA343130335 | F5 | c.5309T>C (p.Val1770Ala) c.5324T>C (p.Val1775Ala) c.4898T>C (p.Val1633Ala) | gnomAD v4 |
1 | g.169529718A>T | CA343130332 | F5 | c.5309T>A (p.Val1770Asp) c.5324T>A (p.Val1775Asp) c.4898T>A (p.Val1633Asp) | |
1 | g.169529719C>A | CA343130341 | F5 | c.5308G>T (p.Val1770Phe) c.5323G>T (p.Val1775Phe) c.4897G>T (p.Val1633Phe) | |
1 | g.169529719C= | CA1144019452 | F5 | c.5308G= (p.Val1770=) c.5323G= (p.Val1775=) c.4897G= (p.Val1633=) | |
1 | g.169529719C>G | CA343130344 | F5 | c.5308G>C (p.Val1770Leu) c.5323G>C (p.Val1775Leu) c.4897G>C (p.Val1633Leu) | gnomAD v4 |
1 | g.169529719C>T | CA10608704 | F5 | c.5308G>A (p.Val1770Ile) c.5323G>A (p.Val1775Ile) c.4897G>A (p.Val1633Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.169529720A>C | CA343130345 | F5 | c.5307T>G (p.Phe1769Leu) c.5322T>G (p.Phe1774Leu) c.4896T>G (p.Phe1632Leu) | |
1 | g.169529720A>G | CA421737817 | F5 | c.5307T>C (p.Phe1769=) c.5322T>C (p.Phe1774=) c.4896T>C (p.Phe1632=) | |
1 | g.169529720A>T | CA343130346 | F5 | c.5307T>A (p.Phe1769Leu) c.5322T>A (p.Phe1774Leu) c.4896T>A (p.Phe1632Leu) | |
1 | g.169529721A= | CA1206135829 | F5 | c.5306T= (p.Phe1769=) c.5321T= (p.Phe1774=) c.4895T= (p.Phe1632=) | |
1 | g.169529721A>C | CA343130347 | F5 | c.5306T>G (p.Phe1769Cys) c.5321T>G (p.Phe1774Cys) c.4895T>G (p.Phe1632Cys) | |
1 | g.169529721A>G | CA343130357 | F5 | c.5306T>C (p.Phe1769Ser) c.5321T>C (p.Phe1774Ser) c.4895T>C (p.Phe1632Ser) | dbSNP gnomAD v4 |
1 | g.169529721A>T | CA343130354 | F5 | c.5306T>A (p.Phe1769Tyr) c.5321T>A (p.Phe1774Tyr) c.4895T>A (p.Phe1632Tyr) | |
1 | g.169529722A>C | CA343130361 | F5 | c.5305T>G (p.Phe1769Val) c.5320T>G (p.Phe1774Val) c.4894T>G (p.Phe1632Val) | |
1 | g.169529722A>G | CA343130370 | F5 | c.5305T>C (p.Phe1769Leu) c.5320T>C (p.Phe1774Leu) c.4894T>C (p.Phe1632Leu) | |
1 | g.169529722A>T | CA343130364 | F5 | c.5305T>A (p.Phe1769Ile) c.5320T>A (p.Phe1774Ile) c.4894T>A (p.Phe1632Ile) | |
1 | g.169529723T>A | CA343130379 | F5 | c.5304A>T (p.Glu1768Asp) c.5319A>T (p.Glu1773Asp) c.4893A>T (p.Glu1631Asp) | |
1 | g.169529723T>C | CA421737836 | F5 | c.5304A>G (p.Glu1768=) c.5319A>G (p.Glu1773=) c.4893A>G (p.Glu1631=) | |
1 | g.169529723T>G | CA343130381 | F5 | c.5304A>C (p.Glu1768Asp) c.5319A>C (p.Glu1773Asp) c.4893A>C (p.Glu1631Asp) | |
1 | g.169529724T>A | CA343130384 | F5 | c.5303A>T (p.Glu1768Val) c.5318A>T (p.Glu1773Val) c.4892A>T (p.Glu1631Val) | |
1 | g.169529724T>C | CA343130387 | F5 | c.5303A>G (p.Glu1768Gly) c.5318A>G (p.Glu1773Gly) c.4892A>G (p.Glu1631Gly) | |
1 | g.169529724T>G | CA343130388 | F5 | c.5303A>C (p.Glu1768Ala) c.5318A>C (p.Glu1773Ala) c.4892A>C (p.Glu1631Ala) | |
1 | g.169529728_169529729del | CA2557592391 | F5 | c.5302_5303del (p.Glu1768IlefsTer9) c.5317_5318del (p.Glu1773IlefsTer9) c.4891_4892del (p.Glu1631IlefsTer9) | |
1 | g.169529725C>A | CA343130389 | F5 | c.5302G>T (p.Glu1768Ter) c.5317G>T (p.Glu1773Ter) c.4891G>T (p.Glu1631Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169529725C= | CA1206135830 | F5 | c.5302G= (p.Glu1768=) c.5317G= (p.Glu1773=) c.4891G= (p.Glu1631=) | |
1 | g.169529725C>G | CA343130390 | F5 | c.5302G>C (p.Glu1768Gln) c.5317G>C (p.Glu1773Gln) c.4891G>C (p.Glu1631Gln) | |
1 | g.169529725C>T | CA343130393 | F5 | c.5302G>A (p.Glu1768Lys) c.5317G>A (p.Glu1773Lys) c.4891G>A (p.Glu1631Lys) | |
1 | g.169529726T>A | CA343130414 | F5 | c.5301A>T (p.Arg1767Ser) c.5316A>T (p.Arg1772Ser) c.4890A>T (p.Arg1630Ser) | |
1 | g.169529726T>C | CA421737856 | F5 | c.5301A>G (p.Arg1767=) c.5316A>G (p.Arg1772=) c.4890A>G (p.Arg1630=) | |
1 | g.169529726T>G | CA343130418 | F5 | c.5301A>C (p.Arg1767Ser) c.5316A>C (p.Arg1772Ser) c.4890A>C (p.Arg1630Ser) | |
1 | g.169529727C>A | CA343130424 | F5 | c.5300G>T (p.Arg1767Ile) c.5315G>T (p.Arg1772Ile) c.4889G>T (p.Arg1630Ile) | |
1 | g.169529727C>G | CA343130429 | F5 | c.5300G>C (p.Arg1767Thr) c.5315G>C (p.Arg1772Thr) c.4889G>C (p.Arg1630Thr) | |
1 | g.169529727C>T | CA343130431 | F5 | c.5300G>A (p.Arg1767Lys) c.5315G>A (p.Arg1772Lys) c.4889G>A (p.Arg1630Lys) | |
1 | g.169529728T>A | CA343130443 | F5 | c.5299A>T (p.Arg1767Ter) c.5314A>T (p.Arg1772Ter) c.4888A>T (p.Arg1630Ter) | |
1 | g.169529728T>C | CA343130437 | F5 | c.5299A>G (p.Arg1767Gly) c.5314A>G (p.Arg1772Gly) c.4888A>G (p.Arg1630Gly) | |
1 | g.169529728T>G | CA421737867 | F5 | c.5299A>C (p.Arg1767=) c.5314A>C (p.Arg1772=) c.4888A>C (p.Arg1630=) | |
1 | g.169529729C>A | CA343130451 | F5 | c.5298G>T (p.Met1766Ile) c.5313G>T (p.Met1771Ile) c.4887G>T (p.Met1629Ile) | |
1 | g.169529729C= | CA1206135831 | F5 | c.5298G= (p.Met1766=) c.5313G= (p.Met1771=) c.4887G= (p.Met1629=) | |
1 | g.169529729C>G | CA343130452 | F5 | c.5298G>C (p.Met1766Ile) c.5313G>C (p.Met1771Ile) c.4887G>C (p.Met1629Ile) | |
1 | g.169529729C>T | CA1233527 | F5 | c.5298G>A (p.Met1766Ile) c.5313G>A (p.Met1771Ile) c.4887G>A (p.Met1629Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169529730A>C | CA343130459 | F5 | c.5297T>G (p.Met1766Arg) c.5312T>G (p.Met1771Arg) c.4886T>G (p.Met1629Arg) | |
1 | g.169529730A>G | CA343130463 | F5 | c.5297T>C (p.Met1766Thr) c.5312T>C (p.Met1771Thr) c.4886T>C (p.Met1629Thr) | |
1 | g.169529730A>T | CA343130464 | F5 | c.5297T>A (p.Met1766Lys) c.5312T>A (p.Met1771Lys) c.4886T>A (p.Met1629Lys) | |
1 | g.169529731T>A | CA343130466 | F5 | c.5296A>T (p.Met1766Leu) c.5311A>T (p.Met1771Leu) c.4885A>T (p.Met1629Leu) | |
1 | g.169529731T>C | CA343130468 | F5 | c.5296A>G (p.Met1766Val) c.5311A>G (p.Met1771Val) c.4885A>G (p.Met1629Val) | gnomAD v4 |
1 | g.169529731T>G | CA343130472 | F5 | c.5296A>C (p.Met1766Leu) c.5311A>C (p.Met1771Leu) c.4885A>C (p.Met1629Leu) | dbSNP |
1 | g.169529731T= | CA1206135832 | F5 | c.5296A= (p.Met1766=) c.5311A= (p.Met1771=) c.4885A= (p.Met1629=) | |
1 | g.169529732G>A | CA421737877 | F5 | c.5295C>T (p.Asp1765=) c.5310C>T (p.Asp1770=) c.4884C>T (p.Asp1628=) | dbSNP gnomAD v4 |
1 | g.169529732G>C | CA343130480 | F5 | c.5295C>G (p.Asp1765Glu) c.5310C>G (p.Asp1770Glu) c.4884C>G (p.Asp1628Glu) | |
1 | g.169529732G= | CA1206135833 | F5 | c.5295C= (p.Asp1765=) c.5310C= (p.Asp1770=) c.4884C= (p.Asp1628=) | |
1 | g.169529732G>T | CA343130482 | F5 | c.5295C>A (p.Asp1765Glu) c.5310C>A (p.Asp1770Glu) c.4884C>A (p.Asp1628Glu) | |
1 | g.169529733T>A | CA343130492 | F5 | c.5294A>T (p.Asp1765Val) c.5309A>T (p.Asp1770Val) c.4883A>T (p.Asp1628Val) | gnomAD v4 |
1 | g.169529733T>C | CA343130501 | F5 | c.5294A>G (p.Asp1765Gly) c.5309A>G (p.Asp1770Gly) c.4883A>G (p.Asp1628Gly) | |
1 | g.169529733T>G | CA343130489 | F5 | c.5294A>C (p.Asp1765Ala) c.5309A>C (p.Asp1770Ala) c.4883A>C (p.Asp1628Ala) | |
1 | g.169529734C>A | CA343130509 | F5 | c.5293G>T (p.Asp1765Tyr) c.5308G>T (p.Asp1770Tyr) c.4882G>T (p.Asp1628Tyr) | |
1 | g.169529734C>G | CA343130516 | F5 | c.5293G>C (p.Asp1765His) c.5308G>C (p.Asp1770His) c.4882G>C (p.Asp1628His) | gnomAD v4 |
1 | g.169529734C>T | CA343130518 | F5 | c.5293G>A (p.Asp1765Asn) c.5308G>A (p.Asp1770Asn) c.4882G>A (p.Asp1628Asn) | |
1 | g.169529735C>A | CA343130528 | F5 | c.5292G>T (p.Met1764Ile) c.5307G>T (p.Met1769Ile) c.4881G>T (p.Met1627Ile) | |
1 | g.169529735C>G | CA343130533 | F5 | c.5292G>C (p.Met1764Ile) c.5307G>C (p.Met1769Ile) c.4881G>C (p.Met1627Ile) | |
1 | g.169529735C>T | CA343130538 | F5 | c.5292G>A (p.Met1764Ile) c.5307G>A (p.Met1769Ile) c.4881G>A (p.Met1627Ile) | |
1 | g.169529736A= | CA1206135834 | F5 | c.5291T= (p.Met1764=) c.5306T= (p.Met1769=) c.4880T= (p.Met1627=) | |
1 | g.169529736A>C | CA343130543 | F5 | c.5291T>G (p.Met1764Arg) c.5306T>G (p.Met1769Arg) c.4880T>G (p.Met1627Arg) | |
1 | g.169529736A>G | CA343130550 | F5 | c.5291T>C (p.Met1764Thr) c.5306T>C (p.Met1769Thr) c.4880T>C (p.Met1627Thr) | dbSNP gnomAD v2 |
1 | g.169529736A>T | CA343130554 | F5 | c.5291T>A (p.Met1764Lys) c.5306T>A (p.Met1769Lys) c.4880T>A (p.Met1627Lys) | |
1 | g.169529737T>A | CA343130555 | F5 | c.5290A>T (p.Met1764Leu) c.5305A>T (p.Met1769Leu) c.4879A>T (p.Met1627Leu) | |
1 | g.169529737T>C | CA1233528 | F5 | c.5290A>G (p.Met1764Val) c.5305A>G (p.Met1769Val) c.4879A>G (p.Met1627Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169529737T>G | CA343130558 | F5 | c.5290A>C (p.Met1764Leu) c.5305A>C (p.Met1769Leu) c.4879A>C (p.Met1627Leu) | |
1 | g.169529737T= | CA1139773084 | F5 | c.5290A= (p.Met1764=) c.5305A= (p.Met1769=) c.4879A= (p.Met1627=) | |
1 | g.169529738A>C | CA421737883 | F5 | c.5289T>G (p.Pro1763=) c.5304T>G (p.Pro1768=) c.4878T>G (p.Pro1626=) | |
1 | g.169529738A>G | CA421737882 | F5 | c.5289T>C (p.Pro1763=) c.5304T>C (p.Pro1768=) c.4878T>C (p.Pro1626=) | |
1 | g.169529738A>T | CA421737884 | F5 | c.5289T>A (p.Pro1763=) c.5304T>A (p.Pro1768=) c.4878T>A (p.Pro1626=) | |
1 | g.169529739G>A | CA343130572 | F5 | c.5288C>T (p.Pro1763Leu) c.5303C>T (p.Pro1768Leu) c.4877C>T (p.Pro1626Leu) | gnomAD v4 |
1 | g.169529739G>C | CA343130567 | F5 | c.5288C>G (p.Pro1763Arg) c.5303C>G (p.Pro1768Arg) c.4877C>G (p.Pro1626Arg) | |
1 | g.169529739G>T | CA343130568 | F5 | c.5288C>A (p.Pro1763His) c.5303C>A (p.Pro1768His) c.4877C>A (p.Pro1626His) | |
1 | g.169529740del | CA2574085084 | F5 | c.5288del (p.Pro1763LeufsTer4) c.5303del (p.Pro1768LeufsTer4) c.4877del (p.Pro1626LeufsTer4) |