Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.58078747C>A | CA353333825 | FLNB | c.572C>A (p.Pro191Gln) n.715C>A n.731C>A c.65C>A (p.Pro22Gln) n.717C>A | |
3 | g.58078747C= | CA1367486667 | FLNB | c.572C= (p.Pro191=) n.715C= n.731C= c.65C= (p.Pro22=) n.717C= | |
3 | g.58078747C>G | CA353333826 | FLNB | c.572C>G (p.Pro191Arg) n.715C>G n.731C>G c.65C>G (p.Pro22Arg) n.717C>G | |
3 | g.58078747C>T | CA16042534 | FLNB | c.572C>T (p.Pro191Leu) n.715C>T n.731C>T c.65C>T (p.Pro22Leu) n.717C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.58078748G>A | CA2467564 | FLNB | c.573G>A (p.Pro191=) n.716G>A n.732G>A c.66G>A (p.Pro22=) n.718G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.58078748G>C | CA434021173 | FLNB | c.573G>C (p.Pro191=) n.716G>C n.732G>C c.66G>C (p.Pro22=) n.718G>C | COSMIC COSMIC COSMIC |
3 | g.58078748G= | CA1367486668 | FLNB | c.573G= (p.Pro191=) n.716G= n.732G= c.66G= (p.Pro22=) n.718G= | |
3 | g.58078748G>T | CA434021176 | FLNB | c.573G>T (p.Pro191=) n.716G>T n.732G>T c.66G>T (p.Pro22=) n.718G>T | |
3 | g.58078749C>A | CA353333829 | FLNB | c.574C>A (p.Gln192Lys) n.717C>A n.733C>A c.67C>A (p.Gln23Lys) n.719C>A | |
3 | g.58078749C>G | CA353333828 | FLNB | c.574C>G (p.Gln192Glu) n.717C>G n.733C>G c.67C>G (p.Gln23Glu) n.719C>G | |
3 | g.58078749C>T | CA353333827 | FLNB | c.574C>T (p.Gln192Ter) n.717C>T n.733C>T c.67C>T (p.Gln23Ter) n.719C>T | |
3 | g.58078750A>C | CA353333830 | FLNB | c.575A>C (p.Gln192Pro) n.718A>C n.734A>C c.68A>C (p.Gln23Pro) n.720A>C | |
3 | g.58078750A>G | CA353333831 | FLNB | c.575A>G (p.Gln192Arg) n.718A>G n.734A>G c.68A>G (p.Gln23Arg) n.720A>G | |
3 | g.58078750A>T | CA353333832 | FLNB | c.575A>T (p.Gln192Leu) n.718A>T n.734A>T c.68A>T (p.Gln23Leu) n.720A>T | |
3 | g.58078751G>A | CA2467565 | FLNB | c.576G>A (p.Gln192=) n.719G>A n.735G>A c.69G>A (p.Gln23=) n.721G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.58078751G>C | CA353333833 | FLNB | c.576G>C (p.Gln192His) n.719G>C n.735G>C c.69G>C (p.Gln23His) n.721G>C | |
3 | g.58078751G= | CA1367486669 | FLNB | c.576G= (p.Gln192=) n.719G= n.735G= c.69G= (p.Gln23=) n.721G= | |
3 | g.58078751G>T | CA353333834 | FLNB | c.576G>T (p.Gln192His) n.719G>T n.735G>T c.69G>T (p.Gln23His) n.721G>T | |
3 | g.58078751_58078752delinsAC | CA891862915 | FLNB | c.576_577delinsAC (p.Lys193Gln) n.719_720delinsAC n.735_736delinsAC c.69_70delinsAC (p.Lys24Gln) n.721_722delinsAC | ClinVar dbSNP |
3 | g.58078751_58078752delinsGA | CA1367486670 | FLNB | c.576_577delinsGA (p.Gln192=) n.719_720delinsGA n.735_736delinsGA c.69_70delinsGA (p.Gln23=) n.721_722delinsGA | |
3 | g.58078752A= | CA1367486671 | FLNB | c.577A= (p.Lys193=) n.720A= n.736A= c.70A= (p.Lys24=) n.722A= | |
3 | g.58078752A>C | CA2467566 | FLNB | c.577A>C (p.Lys193Gln) n.720A>C n.736A>C c.70A>C (p.Lys24Gln) n.722A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.58078752A>G | CA353333836 | FLNB | c.577A>G (p.Lys193Glu) n.720A>G n.736A>G c.70A>G (p.Lys24Glu) n.722A>G | gnomAD v4 |
3 | g.58078752A>T | CA353333835 | FLNB | c.577A>T (p.Lys193Ter) n.720A>T n.736A>T c.70A>T (p.Lys24Ter) n.722A>T | |
3 | g.58078753A>C | CA353333837 | FLNB | c.578A>C (p.Lys193Thr) n.721A>C n.737A>C c.71A>C (p.Lys24Thr) n.723A>C | |
3 | g.58078753A>G | CA353333838 | FLNB | c.578A>G (p.Lys193Arg) n.721A>G n.737A>G c.71A>G (p.Lys24Arg) n.723A>G | COSMIC COSMIC COSMIC |
3 | g.58078753A>T | CA353333839 | FLNB | c.578A>T (p.Lys193Met) n.721A>T n.737A>T c.71A>T (p.Lys24Met) n.723A>T | |
3 | g.58078754G>A | CA434021212 | FLNB | c.579G>A (p.Lys193=) n.722G>A n.738G>A c.72G>A (p.Lys24=) n.724G>A | dbSNP COSMIC COSMIC COSMIC |
3 | g.58078754G>C | CA353333840 | FLNB | c.579G>C (p.Lys193Asn) n.722G>C n.738G>C c.72G>C (p.Lys24Asn) n.724G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.58078754G= | CA1367486672 | FLNB | c.579G= (p.Lys193=) n.722G= n.738G= c.72G= (p.Lys24=) n.724G= | |
3 | g.58078754G>T | CA353333841 | FLNB | c.579G>T (p.Lys193Asn) n.722G>T n.738G>T c.72G>T (p.Lys24Asn) n.724G>T | |
3 | g.58078755C>A | CA353333842 | FLNB | c.580C>A (p.Pro194Thr) n.723C>A n.739C>A c.73C>A (p.Pro25Thr) n.725C>A | |
3 | g.58078755C= | CA1367486673 | FLNB | c.580C= (p.Pro194=) n.723C= n.739C= c.73C= (p.Pro25=) n.725C= | |
3 | g.58078755C>G | CA353333843 | FLNB | c.580C>G (p.Pro194Ala) n.723C>G n.739C>G c.73C>G (p.Pro25Ala) n.725C>G | |
3 | g.58078755C>T | CA75428456 | FLNB | c.580C>T (p.Pro194Ser) n.723C>T n.739C>T c.73C>T (p.Pro25Ser) n.725C>T | dbSNP gnomAD v4 |
3 | g.58078756C>A | CA353333844 | FLNB | c.581C>A (p.Pro194His) n.724C>A n.740C>A c.74C>A (p.Pro25His) n.726C>A | |
3 | g.58078756C>G | CA353333845 | FLNB | c.581C>G (p.Pro194Arg) n.724C>G n.740C>G c.74C>G (p.Pro25Arg) n.726C>G | |
3 | g.58078756C>T | CA353333846 | FLNB | c.581C>T (p.Pro194Leu) n.724C>T n.740C>T c.74C>T (p.Pro25Leu) n.726C>T | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.58078757T>A | CA434021235 | FLNB | c.582T>A (p.Pro194=) n.725T>A n.741T>A c.75T>A (p.Pro25=) n.727T>A | gnomAD v4 |
3 | g.58078757T>C | CA434021237 | FLNB | c.582T>C (p.Pro194=) n.725T>C n.741T>C c.75T>C (p.Pro25=) n.727T>C | |
3 | g.58078757T>G | CA434021240 | FLNB | c.582T>G (p.Pro194=) n.725T>G n.741T>G c.75T>G (p.Pro25=) n.727T>G | |
3 | g.58078758G>A | CA353333847 | FLNB | c.583G>A (p.Val195Met) n.726G>A n.742G>A c.76G>A (p.Val26Met) n.728G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
3 | g.58078758G>C | CA353333849 | FLNB | c.583G>C (p.Val195Leu) n.726G>C n.742G>C c.76G>C (p.Val26Leu) n.728G>C | |
3 | g.58078758G= | CA1367486674 | FLNB | c.583G= (p.Val195=) n.726G= n.742G= c.76G= (p.Val26=) n.728G= | |
3 | g.58078758G>T | CA353333848 | FLNB | c.583G>T (p.Val195Leu) n.726G>T n.742G>T c.76G>T (p.Val26Leu) n.728G>T | |
3 | g.58078759T>A | CA353333850 | FLNB | c.584T>A (p.Val195Glu) n.727T>A n.743T>A c.77T>A (p.Val26Glu) n.729T>A | |
3 | g.58078759T>C | CA353333851 | FLNB | c.584T>C (p.Val195Ala) n.727T>C n.743T>C c.77T>C (p.Val26Ala) n.729T>C | gnomAD v4 |
3 | g.58078759T>G | CA353333852 | FLNB | c.584T>G (p.Val195Gly) n.727T>G n.743T>G c.77T>G (p.Val26Gly) n.729T>G | |
3 | g.58078760G>A | CA434021256 | FLNB | c.585G>A (p.Val195=) n.728G>A n.744G>A c.78G>A (p.Val26=) n.730G>A | |
3 | g.58078760G>C | CA434021258 | FLNB | c.585G>C (p.Val195=) n.728G>C n.744G>C c.78G>C (p.Val26=) n.730G>C |