Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94619413G>A | CA7329906 | SERPINA3 | c.862G>A (p.Glu288Lys) c.208G>A (p.Glu70Lys) c.1825G>A n.58-2928G>A c.644-2928G>A (n.644-2928G>A) c.81G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619413G>C | CA390856202 | SERPINA3 | c.862G>C (p.Glu288Gln) c.208G>C (p.Glu70Gln) c.1825G>C n.58-2928G>C c.644-2928G>C (n.644-2928G>C) c.81G>C | |
14 | g.94619413G= | CA2156074139 | SERPINA3 | c.862G= (p.Glu288=) c.208G= (p.Glu70=) c.1825G= n.58-2928G= c.644-2928G= (n.644-2928G=) c.81G= | |
14 | g.94619413G>T | CA390856200 | SERPINA3 | c.862G>T (p.Glu288Ter) c.208G>T (p.Glu70Ter) c.1825G>T n.58-2928G>T c.644-2928G>T (n.644-2928G>T) c.81G>T | |
14 | g.94619414A= | CA2156074140 | SERPINA3 | c.863A= (p.Glu288=) c.209A= (p.Glu70=) c.1826A= n.58-2927A= c.644-2927A= (n.644-2927A=) c.82A= | |
14 | g.94619414A>C | CA390856205 | SERPINA3 | c.863A>C (p.Glu288Ala) c.209A>C (p.Glu70Ala) c.1826A>C n.58-2927A>C c.644-2927A>C (n.644-2927A>C) c.82A>C | |
14 | g.94619414A>G | CA265885204 | SERPINA3 | c.863A>G (p.Glu288Gly) c.209A>G (p.Glu70Gly) c.1826A>G n.58-2927A>G c.644-2927A>G (n.644-2927A>G) c.82A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619414A>T | CA390856208 | SERPINA3 | c.863A>T (p.Glu288Val) c.209A>T (p.Glu70Val) c.1826A>T n.58-2927A>T c.644-2927A>T (n.644-2927A>T) c.82A>T | |
14 | g.94619415A>C | CA390856210 | SERPINA3 | c.864A>C (p.Glu288Asp) c.210A>C (p.Glu70Asp) c.1827A>C n.58-2926A>C c.644-2926A>C (n.644-2926A>C) c.83A>C | |
14 | g.94619415A>G | CA487625281 | SERPINA3 | c.864A>G (p.Glu288=) c.210A>G (p.Glu70=) c.1827A>G n.58-2926A>G c.644-2926A>G (n.644-2926A>G) c.83A>G | |
14 | g.94619415A>T | CA390856212 | SERPINA3 | c.864A>T (p.Glu288Asp) c.210A>T (p.Glu70Asp) c.1827A>T n.58-2926A>T c.644-2926A>T (n.644-2926A>T) c.83A>T | gnomAD v4 |
14 | g.94619416G>A | CA390856214 | SERPINA3 | c.865G>A (p.Ala289Thr) c.211G>A (p.Ala71Thr) c.1828G>A n.58-2925G>A c.644-2925G>A (n.644-2925G>A) c.84G>A | gnomAD v4 |
14 | g.94619416G>C | CA390856215 | SERPINA3 | c.865G>C (p.Ala289Pro) c.211G>C (p.Ala71Pro) c.1828G>C n.58-2925G>C c.644-2925G>C (n.644-2925G>C) c.84G>C | |
14 | g.94619416G>T | CA390856218 | SERPINA3 | c.865G>T (p.Ala289Ser) c.211G>T (p.Ala71Ser) c.1828G>T n.58-2925G>T c.644-2925G>T (n.644-2925G>T) c.84G>T | |
14 | g.94619417C>A | CA390856220 | SERPINA3 | c.866C>A (p.Ala289Asp) c.212C>A (p.Ala71Asp) c.1829C>A n.58-2924C>A c.644-2924C>A (n.644-2924C>A) c.85C>A | |
14 | g.94619417C>G | CA390856222 | SERPINA3 | c.866C>G (p.Ala289Gly) c.212C>G (p.Ala71Gly) c.1829C>G n.58-2924C>G c.644-2924C>G (n.644-2924C>G) c.85C>G | |
14 | g.94619417C>T | CA390856224 | SERPINA3 | c.866C>T (p.Ala289Val) c.212C>T (p.Ala71Val) c.1829C>T n.58-2924C>T c.644-2924C>T (n.644-2924C>T) c.85C>T | |
14 | g.94619418C>A | CA487625282 | SERPINA3 | c.867C>A (p.Ala289=) c.213C>A (p.Ala71=) c.1830C>A n.58-2923C>A c.644-2923C>A (n.644-2923C>A) c.86C>A | |
14 | g.94619418C= | CA2156074141 | SERPINA3 | c.867C= (p.Ala289=) c.213C= (p.Ala71=) c.1830C= n.58-2923C= c.644-2923C= (n.644-2923C=) c.86C= | |
14 | g.94619418C>G | CA7329908 | SERPINA3 | c.867C>G (p.Ala289=) c.213C>G (p.Ala71=) c.1830C>G n.58-2923C>G c.644-2923C>G (n.644-2923C>G) c.86C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619418C>T | CA7329907 | SERPINA3 | c.867C>T (p.Ala289=) c.213C>T (p.Ala71=) c.1830C>T n.58-2923C>T c.644-2923C>T (n.644-2923C>T) c.86C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619419A= | CA2156074142 | SERPINA3 | c.868A= (p.Met290=) c.214A= (p.Met72=) c.1831A= n.58-2922A= c.644-2922A= (n.644-2922A=) c.87A= | |
14 | g.94619419A>C | CA265885236 | SERPINA3 | c.868A>C (p.Met290Leu) c.214A>C (p.Met72Leu) c.1831A>C n.58-2922A>C c.644-2922A>C (n.644-2922A>C) c.87A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.94619419A>G | CA390856228 | SERPINA3 | c.868A>G (p.Met290Val) c.214A>G (p.Met72Val) c.1831A>G n.58-2922A>G c.644-2922A>G (n.644-2922A>G) c.87A>G | dbSNP |
14 | g.94619419A>T | CA7329909 | SERPINA3 | c.868A>T (p.Met290Leu) c.214A>T (p.Met72Leu) c.1831A>T n.58-2922A>T c.644-2922A>T (n.644-2922A>T) c.87A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619419_94619420delinsCA | CA645581952 | SERPINA3 | c.868_869delinsCA (p.Met290Gln) c.214_215delinsCA (p.Met72Gln) c.1831_1832delinsCA n.58-2922_58-2921delinsCA c.644-2922_644-2921delinsCA (n.644-2922_644-2921delinsCA) c.87_88delinsCA | COSMIC COSMIC |
14 | g.94619420T>A | CA265885258 | SERPINA3 | c.869T>A (p.Met290Lys) c.215T>A (p.Met72Lys) c.1832T>A n.58-2921T>A c.644-2921T>A (n.644-2921T>A) c.88T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.94619420T>C | CA390856230 | SERPINA3 | c.869T>C (p.Met290Thr) c.215T>C (p.Met72Thr) c.1832T>C n.58-2921T>C c.644-2921T>C (n.644-2921T>C) c.88T>C | |
14 | g.94619420T>G | CA390856232 | SERPINA3 | c.869T>G (p.Met290Arg) c.215T>G (p.Met72Arg) c.1832T>G n.58-2921T>G c.644-2921T>G (n.644-2921T>G) c.88T>G | |
14 | g.94619420T= | CA2156074143 | SERPINA3 | c.869T= (p.Met290=) c.215T= (p.Met72=) c.1832T= n.58-2921T= c.644-2921T= (n.644-2921T=) c.88T= | |
14 | g.94619421G>A | CA390856235 | SERPINA3 | c.870G>A (p.Met290Ile) c.216G>A (p.Met72Ile) c.1833G>A n.58-2920G>A c.644-2920G>A (n.644-2920G>A) c.89G>A | dbSNP |
14 | g.94619421G>C | CA390856236 | SERPINA3 | c.870G>C (p.Met290Ile) c.216G>C (p.Met72Ile) c.1833G>C n.58-2920G>C c.644-2920G>C (n.644-2920G>C) c.89G>C | gnomAD v4 |
14 | g.94619421G= | CA2156074144 | SERPINA3 | c.870G= (p.Met290=) c.216G= (p.Met72=) c.1833G= n.58-2920G= c.644-2920G= (n.644-2920G=) c.89G= | |
14 | g.94619421G>T | CA7329910 | SERPINA3 | c.870G>T (p.Met290Ile) c.216G>T (p.Met72Ile) c.1833G>T n.58-2920G>T c.644-2920G>T (n.644-2920G>T) c.89G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619422C>A | CA390856239 | SERPINA3 | c.871C>A (p.Leu291Met) c.217C>A (p.Leu73Met) c.1834C>A n.58-2919C>A c.644-2919C>A (n.644-2919C>A) c.90C>A | |
14 | g.94619422C= | CA2156074145 | SERPINA3 | c.871C= (p.Leu291=) c.217C= (p.Leu73=) c.1834C= n.58-2919C= c.644-2919C= (n.644-2919C=) c.90C= | |
14 | g.94619422C>G | CA390856241 | SERPINA3 | c.871C>G (p.Leu291Val) c.217C>G (p.Leu73Val) c.1834C>G n.58-2919C>G c.644-2919C>G (n.644-2919C>G) c.90C>G | dbSNP gnomAD v4 |
14 | g.94619422C>T | CA487625283 | SERPINA3 | c.871C>T (p.Leu291=) c.217C>T (p.Leu73=) c.1834C>T n.58-2919C>T c.644-2919C>T (n.644-2919C>T) c.90C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619423T>A | CA390856244 | SERPINA3 | c.872T>A (p.Leu291Gln) c.218T>A (p.Leu73Gln) c.1835T>A n.58-2918T>A c.644-2918T>A (n.644-2918T>A) c.91T>A | |
14 | g.94619423T>C | CA390856245 | SERPINA3 | c.872T>C (p.Leu291Pro) c.218T>C (p.Leu73Pro) c.1835T>C n.58-2918T>C c.644-2918T>C (n.644-2918T>C) c.91T>C | |
14 | g.94619423T>G | CA390856247 | SERPINA3 | c.872T>G (p.Leu291Arg) c.218T>G (p.Leu73Arg) c.1835T>G n.58-2918T>G c.644-2918T>G (n.644-2918T>G) c.91T>G | |
14 | g.94619424G>A | CA487625284 | SERPINA3 | c.873G>A (p.Leu291=) c.219G>A (p.Leu73=) c.1836G>A n.58-2917G>A c.644-2917G>A (n.644-2917G>A) c.92G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619424G>C | CA487625285 | SERPINA3 | c.873G>C (p.Leu291=) c.219G>C (p.Leu73=) c.1836G>C n.58-2917G>C c.644-2917G>C (n.644-2917G>C) c.92G>C | |
14 | g.94619424G= | CA2156074146 | SERPINA3 | c.873G= (p.Leu291=) c.219G= (p.Leu73=) c.1836G= n.58-2917G= c.644-2917G= (n.644-2917G=) c.92G= | |
14 | g.94619424G>T | CA487625286 | SERPINA3 | c.873G>T (p.Leu291=) c.219G>T (p.Leu73=) c.1836G>T n.58-2917G>T c.644-2917G>T (n.644-2917G>T) c.92G>T | |
14 | g.94619425C>A | CA390856249 | SERPINA3 | c.874C>A (p.Leu292Ile) c.220C>A (p.Leu74Ile) c.1837C>A n.58-2916C>A c.644-2916C>A (n.644-2916C>A) c.93C>A | |
14 | g.94619425C= | CA2156074147 | SERPINA3 | c.874C= (p.Leu292=) c.220C= (p.Leu74=) c.1837C= n.58-2916C= c.644-2916C= (n.644-2916C=) c.93C= | |
14 | g.94619425C>G | CA390856251 | SERPINA3 | c.874C>G (p.Leu292Val) c.220C>G (p.Leu74Val) c.1837C>G n.58-2916C>G c.644-2916C>G (n.644-2916C>G) c.93C>G | |
14 | g.94619425C>T | CA390856253 | SERPINA3 | c.874C>T (p.Leu292Phe) c.220C>T (p.Leu74Phe) c.1837C>T n.58-2916C>T c.644-2916C>T (n.644-2916C>T) c.93C>T | dbSNP |
14 | g.94619426T>A | CA390856257 | SERPINA3 | c.875T>A (p.Leu292His) c.221T>A (p.Leu74His) c.1838T>A n.58-2915T>A c.644-2915T>A (n.644-2915T>A) c.94T>A | gnomAD v4 |
14 | g.94619426T>C | CA390856258 | SERPINA3 | c.875T>C (p.Leu292Pro) c.221T>C (p.Leu74Pro) c.1838T>C n.58-2915T>C c.644-2915T>C (n.644-2915T>C) c.94T>C | gnomAD v4 |
14 | g.94619426T>G | CA390856255 | SERPINA3 | c.875T>G (p.Leu292Arg) c.221T>G (p.Leu74Arg) c.1838T>G n.58-2915T>G c.644-2915T>G (n.644-2915T>G) c.94T>G | gnomAD v4 |
14 | g.94619427C>A | CA7329911 | SERPINA3 | c.876C>A (p.Leu292=) c.222C>A (p.Leu74=) c.1839C>A n.58-2914C>A c.644-2914C>A (n.644-2914C>A) c.95C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619427C= | CA2156074148 | SERPINA3 | c.876C= (p.Leu292=) c.222C= (p.Leu74=) c.1839C= n.58-2914C= c.644-2914C= (n.644-2914C=) c.95C= | |
14 | g.94619427C>G | CA487625287 | SERPINA3 | c.876C>G (p.Leu292=) c.222C>G (p.Leu74=) c.1839C>G n.58-2914C>G c.644-2914C>G (n.644-2914C>G) c.95C>G | |
14 | g.94619427C>T | CA487625288 | SERPINA3 | c.876C>T (p.Leu292=) c.222C>T (p.Leu74=) c.1839C>T n.58-2914C>T c.644-2914C>T (n.644-2914C>T) c.95C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619427_94619428insTGG | CA2626330357 | SERPINA3 | c.876_877insTGG (p.Leu292_Pro293insTrp) c.222_223insTGG (p.Leu74_Pro75insTrp) c.1839_1840insTGG n.58-2914_58-2913insTGG c.644-2914_644-2913insTGG (n.644-2914_644-2913insTGG) c.95_96insTGG | gnomAD v4 |
14 | g.94619428C>A | CA390856261 | SERPINA3 | c.877C>A (p.Pro293Thr) c.223C>A (p.Pro75Thr) c.1840C>A n.58-2913C>A c.644-2913C>A (n.644-2913C>A) c.96C>A | |
14 | g.94619428C>G | CA390856263 | SERPINA3 | c.877C>G (p.Pro293Ala) c.223C>G (p.Pro75Ala) c.1840C>G n.58-2913C>G c.644-2913C>G (n.644-2913C>G) c.96C>G | |
14 | g.94619428C>T | CA390856265 | SERPINA3 | c.877C>T (p.Pro293Ser) c.223C>T (p.Pro75Ser) c.1840C>T n.58-2913C>T c.644-2913C>T (n.644-2913C>T) c.96C>T | |
14 | g.94619429C>A | CA390856267 | SERPINA3 | c.878C>A (p.Pro293Gln) c.224C>A (p.Pro75Gln) c.1841C>A n.58-2912C>A c.644-2912C>A (n.644-2912C>A) c.97C>A | |
14 | g.94619429C= | CA2156074149 | SERPINA3 | c.878C= (p.Pro293=) c.224C= (p.Pro75=) c.1841C= n.58-2912C= c.644-2912C= (n.644-2912C=) c.97C= | |
14 | g.94619429C>G | CA390856269 | SERPINA3 | c.878C>G (p.Pro293Arg) c.224C>G (p.Pro75Arg) c.1841C>G n.58-2912C>G c.644-2912C>G (n.644-2912C>G) c.97C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619429C>T | CA390856270 | SERPINA3 | c.878C>T (p.Pro293Leu) c.224C>T (p.Pro75Leu) c.1841C>T n.58-2912C>T c.644-2912C>T (n.644-2912C>T) c.97C>T | |
14 | g.94619430A>C | CA487625291 | SERPINA3 | c.879A>C (p.Pro293=) c.225A>C (p.Pro75=) c.1842A>C n.58-2911A>C c.644-2911A>C (n.644-2911A>C) c.98A>C | gnomAD v4 |
14 | g.94619430A>G | CA487625290 | SERPINA3 | c.879A>G (p.Pro293=) c.225A>G (p.Pro75=) c.1842A>G n.58-2911A>G c.644-2911A>G (n.644-2911A>G) c.98A>G | |
14 | g.94619430A>T | CA487625289 | SERPINA3 | c.879A>T (p.Pro293=) c.225A>T (p.Pro75=) c.1842A>T n.58-2911A>T c.644-2911A>T (n.644-2911A>T) c.98A>T | gnomAD v4 |
14 | g.94619431G>A | CA390856272 | SERPINA3 | c.880G>A (p.Glu294Lys) c.226G>A (p.Glu76Lys) c.1843G>A n.58-2910G>A c.644-2910G>A (n.644-2910G>A) c.99G>A | COSMIC COSMIC |
14 | g.94619431G>C | CA390856274 | SERPINA3 | c.880G>C (p.Glu294Gln) c.226G>C (p.Glu76Gln) c.1843G>C n.58-2910G>C c.644-2910G>C (n.644-2910G>C) c.99G>C | |
14 | g.94619431G>T | CA390856276 | SERPINA3 | c.880G>T (p.Glu294Ter) c.226G>T (p.Glu76Ter) c.1843G>T n.58-2910G>T c.644-2910G>T (n.644-2910G>T) c.99G>T | |
14 | g.94619432A>C | CA390856278 | SERPINA3 | c.881A>C (p.Glu294Ala) c.227A>C (p.Glu76Ala) c.1844A>C n.58-2909A>C c.644-2909A>C (n.644-2909A>C) c.100A>C | |
14 | g.94619432A>G | CA390856279 | SERPINA3 | c.881A>G (p.Glu294Gly) c.227A>G (p.Glu76Gly) c.1844A>G n.58-2909A>G c.644-2909A>G (n.644-2909A>G) c.100A>G | gnomAD v4 |
14 | g.94619432A>T | CA390856280 | SERPINA3 | c.881A>T (p.Glu294Val) c.227A>T (p.Glu76Val) c.1844A>T n.58-2909A>T c.644-2909A>T (n.644-2909A>T) c.100A>T | |
14 | g.94619433G>A | CA487625292 | SERPINA3 | c.882G>A (p.Glu294=) c.228G>A (p.Glu76=) c.1845G>A n.58-2908G>A c.644-2908G>A (n.644-2908G>A) c.101G>A | |
14 | g.94619433G>C | CA390856284 | SERPINA3 | c.882G>C (p.Glu294Asp) c.228G>C (p.Glu76Asp) c.1845G>C n.58-2908G>C c.644-2908G>C (n.644-2908G>C) c.101G>C | |
14 | g.94619433G>T | CA390856283 | SERPINA3 | c.882G>T (p.Glu294Asp) c.228G>T (p.Glu76Asp) c.1845G>T n.58-2908G>T c.644-2908G>T (n.644-2908G>T) c.101G>T | |
14 | g.94619434A>C | CA390856286 | SERPINA3 | c.883A>C (p.Thr295Pro) c.229A>C (p.Thr77Pro) c.1846A>C n.58-2907A>C c.644-2907A>C (n.644-2907A>C) c.102A>C | |
14 | g.94619434A>G | CA390856288 | SERPINA3 | c.883A>G (p.Thr295Ala) c.229A>G (p.Thr77Ala) c.1846A>G n.58-2907A>G c.644-2907A>G (n.644-2907A>G) c.102A>G | |
14 | g.94619434A>T | CA390856290 | SERPINA3 | c.883A>T (p.Thr295Ser) c.229A>T (p.Thr77Ser) c.1846A>T n.58-2907A>T c.644-2907A>T (n.644-2907A>T) c.102A>T | |
14 | g.94619435C>A | CA390856292 | SERPINA3 | c.884C>A (p.Thr295Asn) c.230C>A (p.Thr77Asn) c.1847C>A n.58-2906C>A c.644-2906C>A (n.644-2906C>A) c.103C>A | dbSNP gnomAD v4 |
14 | g.94619435C= | CA2156074150 | SERPINA3 | c.884C= (p.Thr295=) c.230C= (p.Thr77=) c.1847C= n.58-2906C= c.644-2906C= (n.644-2906C=) c.103C= | |
14 | g.94619435C>G | CA390856294 | SERPINA3 | c.884C>G (p.Thr295Ser) c.230C>G (p.Thr77Ser) c.1847C>G n.58-2906C>G c.644-2906C>G (n.644-2906C>G) c.103C>G | |
14 | g.94619435C>T | CA390856296 | SERPINA3 | c.884C>T (p.Thr295Ile) c.230C>T (p.Thr77Ile) c.1847C>T n.58-2906C>T c.644-2906C>T (n.644-2906C>T) c.103C>T | gnomAD v4 |
14 | g.94619436C>A | CA487625293 | SERPINA3 | c.885C>A (p.Thr295=) c.231C>A (p.Thr77=) c.1848C>A n.58-2905C>A c.644-2905C>A (n.644-2905C>A) c.104C>A | gnomAD v4 |
14 | g.94619436C= | CA2156074151 | SERPINA3 | c.885C= (p.Thr295=) c.231C= (p.Thr77=) c.1848C= n.58-2905C= c.644-2905C= (n.644-2905C=) c.104C= | |
14 | g.94619436C>G | CA487625294 | SERPINA3 | c.885C>G (p.Thr295=) c.231C>G (p.Thr77=) c.1848C>G n.58-2905C>G c.644-2905C>G (n.644-2905C>G) c.104C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619436C>T | CA7329912 | SERPINA3 | c.885C>T (p.Thr295=) c.231C>T (p.Thr77=) c.1848C>T n.58-2905C>T c.644-2905C>T (n.644-2905C>T) c.104C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.94619437C>A | CA390856299 | SERPINA3 | c.886C>A (p.Leu296Met) c.232C>A (p.Leu78Met) c.1849C>A n.58-2904C>A c.644-2904C>A (n.644-2904C>A) c.105C>A | |
14 | g.94619437C>G | CA390856301 | SERPINA3 | c.886C>G (p.Leu296Val) c.232C>G (p.Leu78Val) c.1849C>G n.58-2904C>G c.644-2904C>G (n.644-2904C>G) c.105C>G | |
14 | g.94619437C>T | CA487625295 | SERPINA3 | c.886C>T (p.Leu296=) c.232C>T (p.Leu78=) c.1849C>T n.58-2904C>T c.644-2904C>T (n.644-2904C>T) c.105C>T | |
14 | g.94619438T>A | CA390856303 | SERPINA3 | c.887T>A (p.Leu296Gln) c.233T>A (p.Leu78Gln) c.1850T>A n.58-2903T>A c.644-2903T>A (n.644-2903T>A) c.106T>A | |
14 | g.94619438T>C | CA390856304 | SERPINA3 | c.887T>C (p.Leu296Pro) c.233T>C (p.Leu78Pro) c.1850T>C n.58-2903T>C c.644-2903T>C (n.644-2903T>C) c.106T>C | |
14 | g.94619438T>G | CA390856306 | SERPINA3 | c.887T>G (p.Leu296Arg) c.233T>G (p.Leu78Arg) c.1850T>G n.58-2903T>G c.644-2903T>G (n.644-2903T>G) c.106T>G | |
14 | g.94619439G>A | CA487625296 | SERPINA3 | c.888G>A (p.Leu296=) c.234G>A (p.Leu78=) c.1851G>A n.58-2902G>A c.644-2902G>A (n.644-2902G>A) c.107G>A | |
14 | g.94619439G>C | CA487625297 | SERPINA3 | c.888G>C (p.Leu296=) c.234G>C (p.Leu78=) c.1851G>C n.58-2902G>C c.644-2902G>C (n.644-2902G>C) c.107G>C | |
14 | g.94619439G>T | CA487625298 | SERPINA3 | c.888G>T (p.Leu296=) c.234G>T (p.Leu78=) c.1851G>T n.58-2902G>T c.644-2902G>T (n.644-2902G>T) c.107G>T | |
14 | g.94619440A>C | CA390856308 | SERPINA3 | c.889A>C (p.Lys297Gln) c.235A>C (p.Lys79Gln) c.1852A>C n.58-2901A>C c.644-2901A>C (n.644-2901A>C) c.108A>C | |
14 | g.94619440A>G | CA390856312 | SERPINA3 | c.889A>G (p.Lys297Glu) c.235A>G (p.Lys79Glu) c.1852A>G n.58-2901A>G c.644-2901A>G (n.644-2901A>G) c.108A>G | |
14 | g.94619440A>T | CA390856309 | SERPINA3 | c.889A>T (p.Lys297Ter) c.235A>T (p.Lys79Ter) c.1852A>T n.58-2901A>T c.644-2901A>T (n.644-2901A>T) c.108A>T | |
14 | g.94619441A>C | CA390856315 | SERPINA3 | c.890A>C (p.Lys297Thr) c.236A>C (p.Lys79Thr) c.1853A>C n.58-2900A>C c.644-2900A>C (n.644-2900A>C) c.109A>C | |
14 | g.94619441A>G | CA390856318 | SERPINA3 | c.890A>G (p.Lys297Arg) c.236A>G (p.Lys79Arg) c.1853A>G n.58-2900A>G c.644-2900A>G (n.644-2900A>G) c.109A>G | |
14 | g.94619441A>T | CA390856317 | SERPINA3 | c.890A>T (p.Lys297Met) c.236A>T (p.Lys79Met) c.1853A>T n.58-2900A>T c.644-2900A>T (n.644-2900A>T) c.109A>T | |
14 | g.94619442G>A | CA487625299 | SERPINA3 | c.891G>A (p.Lys297=) c.237G>A (p.Lys79=) c.1854G>A n.58-2899G>A c.644-2899G>A (n.644-2899G>A) c.110G>A | gnomAD v4 |
14 | g.94619442G>C | CA7329913 | SERPINA3 | c.891G>C (p.Lys297Asn) c.237G>C (p.Lys79Asn) c.1854G>C n.58-2899G>C c.644-2899G>C (n.644-2899G>C) c.110G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619442G= | CA2156074152 | SERPINA3 | c.891G= (p.Lys297=) c.237G= (p.Lys79=) c.1854G= n.58-2899G= c.644-2899G= (n.644-2899G=) c.110G= | |
14 | g.94619442G>T | CA390856322 | SERPINA3 | c.891G>T (p.Lys297Asn) c.237G>T (p.Lys79Asn) c.1854G>T n.58-2899G>T c.644-2899G>T (n.644-2899G>T) c.110G>T | |
14 | g.94619443C>A | CA7329915 | SERPINA3 | c.892C>A (p.Arg298=) c.238C>A (p.Arg80=) c.1855C>A n.58-2898C>A c.644-2898C>A (n.644-2898C>A) c.111C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619443C= | CA2156074153 | SERPINA3 | c.892C= (p.Arg298=) c.238C= (p.Arg80=) c.1855C= n.58-2898C= c.644-2898C= (n.644-2898C=) c.111C= | |
14 | g.94619443C>G | CA390856326 | SERPINA3 | c.892C>G (p.Arg298Gly) c.238C>G (p.Arg80Gly) c.1855C>G n.58-2898C>G c.644-2898C>G (n.644-2898C>G) c.111C>G | |
14 | g.94619443C>T | CA7329914 | SERPINA3 | c.892C>T (p.Arg298Trp) c.238C>T (p.Arg80Trp) c.1855C>T n.58-2898C>T c.644-2898C>T (n.644-2898C>T) c.111C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.94619444G>A | CA7329916 | SERPINA3 | c.893G>A (p.Arg298Gln) c.239G>A (p.Arg80Gln) c.1856G>A n.58-2897G>A c.644-2897G>A (n.644-2897G>A) c.112G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619444G>C | CA390856331 | SERPINA3 | c.893G>C (p.Arg298Pro) c.239G>C (p.Arg80Pro) c.1856G>C n.58-2897G>C c.644-2897G>C (n.644-2897G>C) c.112G>C | |
14 | g.94619444G= | CA2156074154 | SERPINA3 | c.893G= (p.Arg298=) c.239G= (p.Arg80=) c.1856G= n.58-2897G= c.644-2897G= (n.644-2897G=) c.112G= | |
14 | g.94619444G>T | CA390856329 | SERPINA3 | c.893G>T (p.Arg298Leu) c.239G>T (p.Arg80Leu) c.1856G>T n.58-2897G>T c.644-2897G>T (n.644-2897G>T) c.112G>T | |
14 | g.94619445G>A | CA487625300 | SERPINA3 | c.894G>A (p.Arg298=) c.240G>A (p.Arg80=) c.1857G>A n.58-2896G>A c.644-2896G>A (n.644-2896G>A) c.113G>A | |
14 | g.94619445G>C | CA487625301 | SERPINA3 | c.894G>C (p.Arg298=) c.240G>C (p.Arg80=) c.1857G>C n.58-2896G>C c.644-2896G>C (n.644-2896G>C) c.113G>C | dbSNP |
14 | g.94619445G= | CA2156074155 | SERPINA3 | c.894G= (p.Arg298=) c.240G= (p.Arg80=) c.1857G= n.58-2896G= c.644-2896G= (n.644-2896G=) c.113G= | |
14 | g.94619445G>T | CA487625302 | SERPINA3 | c.894G>T (p.Arg298=) c.240G>T (p.Arg80=) c.1857G>T n.58-2896G>T c.644-2896G>T (n.644-2896G>T) c.113G>T | gnomAD v4 |
14 | g.94619446T>A | CA390856333 | SERPINA3 | c.895T>A (p.Trp299Arg) c.241T>A (p.Trp81Arg) c.1858T>A n.58-2895T>A c.644-2895T>A (n.644-2895T>A) c.114T>A | gnomAD v4 |
14 | g.94619446T>C | CA390856334 | SERPINA3 | c.895T>C (p.Trp299Arg) c.241T>C (p.Trp81Arg) c.1858T>C n.58-2895T>C c.644-2895T>C (n.644-2895T>C) c.114T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619446T>G | CA390856336 | SERPINA3 | c.895T>G (p.Trp299Gly) c.241T>G (p.Trp81Gly) c.1858T>G n.58-2895T>G c.644-2895T>G (n.644-2895T>G) c.114T>G | dbSNP |
14 | g.94619446T= | CA2156074156 | SERPINA3 | c.895T= (p.Trp299=) c.241T= (p.Trp81=) c.1858T= n.58-2895T= c.644-2895T= (n.644-2895T=) c.114T= | |
14 | g.94619447G>A | CA390856337 | SERPINA3 | c.896G>A (p.Trp299Ter) c.242G>A (p.Trp81Ter) c.1859G>A n.58-2894G>A c.644-2894G>A (n.644-2894G>A) c.115G>A | COSMIC COSMIC |
14 | g.94619447G>C | CA390856339 | SERPINA3 | c.896G>C (p.Trp299Ser) c.242G>C (p.Trp81Ser) c.1859G>C n.58-2894G>C c.644-2894G>C (n.644-2894G>C) c.115G>C | |
14 | g.94619447G>T | CA390856341 | SERPINA3 | c.896G>T (p.Trp299Leu) c.242G>T (p.Trp81Leu) c.1859G>T n.58-2894G>T c.644-2894G>T (n.644-2894G>T) c.115G>T | |
14 | g.94619447_94619449delinsGGA | CA2156074157 | SERPINA3 | c.896_898delinsGGA (p.Trp299=) c.242_244delinsGGA (p.Trp81=) c.1859_1861delinsGGA n.58-2894_58-2892delinsGGA c.644-2894_644-2892delinsGGA (n.644-2894_644-2892delinsGGA) c.115_117delinsGGA | |
14 | g.94619448G>A | CA390856343 | SERPINA3 | c.897G>A (p.Trp299Ter) c.243G>A (p.Trp81Ter) c.1860G>A n.58-2893G>A c.644-2893G>A (n.644-2893G>A) c.116G>A | gnomAD v4 |
14 | g.94619448G>C | CA390856345 | SERPINA3 | c.897G>C (p.Trp299Cys) c.243G>C (p.Trp81Cys) c.1860G>C n.58-2893G>C c.644-2893G>C (n.644-2893G>C) c.116G>C | |
14 | g.94619448G>T | CA390856347 | SERPINA3 | c.897G>T (p.Trp299Cys) c.243G>T (p.Trp81Cys) c.1860G>T n.58-2893G>T c.644-2893G>T (n.644-2893G>T) c.116G>T | |
14 | g.94619452_94619453del | CA710133485 | SERPINA3 | c.901_902del (p.Asp301LeufsTer9) c.247_248del (p.Asp83LeufsTer9) c.1864_1865del c.901_902del (p.Asp301LeufsTer?) n.58-2889_58-2888del c.644-2889_644-2888del (n.644-2889_644-2888del) c.120_121del | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619450_94619453del | CA2626330358 | SERPINA3 | c.899_902del (p.Arg300ThrfsTer8) c.245_248del (p.Arg82ThrfsTer8) c.1862_1865del c.899_902del (p.Arg300ThrfsTer?) n.58-2891_58-2888del c.644-2891_644-2888del (n.644-2891_644-2888del) c.118_121del | gnomAD v4 |
14 | g.94619449A>C | CA487625303 | SERPINA3 | c.898A>C (p.Arg300=) c.244A>C (p.Arg82=) c.1861A>C n.58-2892A>C c.644-2892A>C (n.644-2892A>C) c.117A>C | |
14 | g.94619449A>G | CA390856349 | SERPINA3 | c.898A>G (p.Arg300Gly) c.244A>G (p.Arg82Gly) c.1861A>G n.58-2892A>G c.644-2892A>G (n.644-2892A>G) c.117A>G | |
14 | g.94619449A>T | CA390856350 | SERPINA3 | c.898A>T (p.Arg300Ter) c.244A>T (p.Arg82Ter) c.1861A>T n.58-2892A>T c.644-2892A>T (n.644-2892A>T) c.117A>T | |
14 | g.94619450G>A | CA390856355 | SERPINA3 | c.899G>A (p.Arg300Lys) c.245G>A (p.Arg82Lys) c.1862G>A n.58-2891G>A c.644-2891G>A (n.644-2891G>A) c.118G>A | COSMIC COSMIC |
14 | g.94619450G>C | CA390856352 | SERPINA3 | c.899G>C (p.Arg300Thr) c.245G>C (p.Arg82Thr) c.1862G>C n.58-2891G>C c.644-2891G>C (n.644-2891G>C) c.118G>C | |
14 | g.94619450G>T | CA390856354 | SERPINA3 | c.899G>T (p.Arg300Ile) c.245G>T (p.Arg82Ile) c.1862G>T n.58-2891G>T c.644-2891G>T (n.644-2891G>T) c.118G>T | dbSNP gnomAD v4 |
14 | g.94619451A>C | CA390856356 | SERPINA3 | c.900A>C (p.Arg300Ser) c.246A>C (p.Arg82Ser) c.1863A>C n.58-2890A>C c.644-2890A>C (n.644-2890A>C) c.119A>C | |
14 | g.94619451A>G | CA487625304 | SERPINA3 | c.900A>G (p.Arg300=) c.246A>G (p.Arg82=) c.1863A>G n.58-2890A>G c.644-2890A>G (n.644-2890A>G) c.119A>G | |
14 | g.94619451A>T | CA390856358 | SERPINA3 | c.900A>T (p.Arg300Ser) c.246A>T (p.Arg82Ser) c.1863A>T n.58-2890A>T c.644-2890A>T (n.644-2890A>T) c.119A>T | |
14 | g.94619452G>A | CA390856360 | SERPINA3 | c.901G>A (p.Asp301Asn) c.247G>A (p.Asp83Asn) c.1864G>A n.58-2889G>A c.644-2889G>A (n.644-2889G>A) c.120G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619452G>C | CA390856361 | SERPINA3 | c.901G>C (p.Asp301His) c.247G>C (p.Asp83His) c.1864G>C n.58-2889G>C c.644-2889G>C (n.644-2889G>C) c.120G>C | gnomAD v4 |
14 | g.94619452G= | CA2156074158 | SERPINA3 | c.901G= (p.Asp301=) c.247G= (p.Asp83=) c.1864G= n.58-2889G= c.644-2889G= (n.644-2889G=) c.120G= | |
14 | g.94619452G>T | CA390856363 | SERPINA3 | c.901G>T (p.Asp301Tyr) c.247G>T (p.Asp83Tyr) c.1864G>T n.58-2889G>T c.644-2889G>T (n.644-2889G>T) c.120G>T | |
14 | g.94619453A= | CA2156074159 | SERPINA3 | c.902A= (p.Asp301=) c.248A= (p.Asp83=) c.1865A= n.58-2888A= c.644-2888A= (n.644-2888A=) c.121A= | |
14 | g.94619453A>C | CA390856365 | SERPINA3 | c.902A>C (p.Asp301Ala) c.248A>C (p.Asp83Ala) c.1865A>C n.58-2888A>C c.644-2888A>C (n.644-2888A>C) c.121A>C | |
14 | g.94619453A>G | CA390856367 | SERPINA3 | c.902A>G (p.Asp301Gly) c.248A>G (p.Asp83Gly) c.1865A>G n.58-2888A>G c.644-2888A>G (n.644-2888A>G) c.121A>G | |
14 | g.94619453A>T | CA7329917 | SERPINA3 | c.902A>T (p.Asp301Val) c.248A>T (p.Asp83Val) c.1865A>T n.58-2888A>T c.644-2888A>T (n.644-2888A>T) c.121A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619454C>A | CA390856371 | SERPINA3 | c.903C>A (p.Asp301Glu) c.249C>A (p.Asp83Glu) c.1866C>A n.58-2887C>A c.644-2887C>A (n.644-2887C>A) c.122C>A | |
14 | g.94619454C>G | CA390856372 | SERPINA3 | c.903C>G (p.Asp301Glu) c.249C>G (p.Asp83Glu) c.1866C>G n.58-2887C>G c.644-2887C>G (n.644-2887C>G) c.122C>G | |
14 | g.94619454C>T | CA487625305 | SERPINA3 | c.903C>T (p.Asp301=) c.249C>T (p.Asp83=) c.1866C>T n.58-2887C>T c.644-2887C>T (n.644-2887C>T) c.122C>T | gnomAD v4 |
14 | g.94619455T>A | CA390856378 | SERPINA3 | c.904T>A (p.Ser302Thr) c.250T>A (p.Ser84Thr) c.1867T>A n.58-2886T>A c.644-2886T>A (n.644-2886T>A) c.123T>A | |
14 | g.94619455T>C | CA390856376 | SERPINA3 | c.904T>C (p.Ser302Pro) c.250T>C (p.Ser84Pro) c.1867T>C n.58-2886T>C c.644-2886T>C (n.644-2886T>C) c.123T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.94619455T>G | CA390856375 | SERPINA3 | c.904T>G (p.Ser302Ala) c.250T>G (p.Ser84Ala) c.1867T>G n.58-2886T>G c.644-2886T>G (n.644-2886T>G) c.123T>G | |
14 | g.94619455T= | CA2156074160 | SERPINA3 | c.904T= (p.Ser302=) c.250T= (p.Ser84=) c.1867T= n.58-2886T= c.644-2886T= (n.644-2886T=) c.123T= | |
14 | g.94619456C>A | CA390856380 | SERPINA3 | c.905C>A (p.Ser302Tyr) c.251C>A (p.Ser84Tyr) c.1868C>A n.58-2885C>A c.644-2885C>A (n.644-2885C>A) c.124C>A | |
14 | g.94619456C>G | CA390856382 | SERPINA3 | c.905C>G (p.Ser302Cys) c.251C>G (p.Ser84Cys) c.1868C>G n.58-2885C>G c.644-2885C>G (n.644-2885C>G) c.124C>G | |
14 | g.94619456C>T | CA390856384 | SERPINA3 | c.905C>T (p.Ser302Phe) c.251C>T (p.Ser84Phe) c.1868C>T n.58-2885C>T c.644-2885C>T (n.644-2885C>T) c.124C>T | gnomAD v4 |
14 | g.94619457T>A | CA487625308 | SERPINA3 | c.906T>A (p.Ser302=) c.252T>A (p.Ser84=) c.1869T>A n.58-2884T>A c.644-2884T>A (n.644-2884T>A) c.125T>A | dbSNP gnomAD v4 |
14 | g.94619457T>C | CA487625307 | SERPINA3 | c.906T>C (p.Ser302=) c.252T>C (p.Ser84=) c.1869T>C n.58-2884T>C c.644-2884T>C (n.644-2884T>C) c.125T>C | |
14 | g.94619457T>G | CA487625306 | SERPINA3 | c.906T>G (p.Ser302=) c.252T>G (p.Ser84=) c.1869T>G n.58-2884T>G c.644-2884T>G (n.644-2884T>G) c.125T>G | |
14 | g.94619458C>A | CA390856385 | SERPINA3 | c.907C>A (p.Leu303Met) c.253C>A (p.Leu85Met) c.1870C>A n.58-2883C>A c.644-2883C>A (n.644-2883C>A) c.126C>A | |
14 | g.94619458C= | CA2156074161 | SERPINA3 | c.907C= (p.Leu303=) c.253C= (p.Leu85=) c.1870C= n.58-2883C= c.644-2883C= (n.644-2883C=) c.126C= | |
14 | g.94619458C>G | CA390856387 | SERPINA3 | c.907C>G (p.Leu303Val) c.253C>G (p.Leu85Val) c.1870C>G n.58-2883C>G c.644-2883C>G (n.644-2883C>G) c.126C>G | dbSNP gnomAD v4 |
14 | g.94619458C>T | CA487625309 | SERPINA3 | c.907C>T (p.Leu303=) c.253C>T (p.Leu85=) c.1870C>T n.58-2883C>T c.644-2883C>T (n.644-2883C>T) c.126C>T | |
14 | g.94619459T>A | CA390856389 | SERPINA3 | c.908T>A (p.Leu303Gln) c.254T>A (p.Leu85Gln) c.1871T>A n.58-2882T>A c.644-2882T>A (n.644-2882T>A) c.127T>A | |
14 | g.94619459T>C | CA390856391 | SERPINA3 | c.908T>C (p.Leu303Pro) c.254T>C (p.Leu85Pro) c.1871T>C n.58-2882T>C c.644-2882T>C (n.644-2882T>C) c.127T>C | |
14 | g.94619459T>G | CA390856393 | SERPINA3 | c.908T>G (p.Leu303Arg) c.254T>G (p.Leu85Arg) c.1871T>G n.58-2882T>G c.644-2882T>G (n.644-2882T>G) c.127T>G | |
14 | g.94619460G>A | CA265885283 | SERPINA3 | c.909G>A (p.Leu303=) c.255G>A (p.Leu85=) c.1872G>A n.58-2881G>A c.644-2881G>A (n.644-2881G>A) c.128G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619460G>C | CA487625311 | SERPINA3 | c.909G>C (p.Leu303=) c.255G>C (p.Leu85=) c.1872G>C n.58-2881G>C c.644-2881G>C (n.644-2881G>C) c.128G>C | |
14 | g.94619460G= | CA2156074162 | SERPINA3 | c.909G= (p.Leu303=) c.255G= (p.Leu85=) c.1872G= n.58-2881G= c.644-2881G= (n.644-2881G=) c.128G= | |
14 | g.94619460G>T | CA487625310 | SERPINA3 | c.909G>T (p.Leu303=) c.255G>T (p.Leu85=) c.1872G>T n.58-2881G>T c.644-2881G>T (n.644-2881G>T) c.128G>T | |
14 | g.94619461G>A | CA390856395 | SERPINA3 | c.910G>A (p.Glu304Lys) c.256G>A (p.Glu86Lys) c.1873G>A n.58-2880G>A c.644-2880G>A (n.644-2880G>A) c.129G>A | COSMIC COSMIC |
14 | g.94619461G>C | CA390856396 | SERPINA3 | c.910G>C (p.Glu304Gln) c.256G>C (p.Glu86Gln) c.1873G>C n.58-2880G>C c.644-2880G>C (n.644-2880G>C) c.129G>C | |
14 | g.94619461G= | CA2156074163 | SERPINA3 | c.910G= (p.Glu304=) c.256G= (p.Glu86=) c.1873G= n.58-2880G= c.644-2880G= (n.644-2880G=) c.129G= | |
14 | g.94619461G>T | CA390856398 | SERPINA3 | c.910G>T (p.Glu304Ter) c.256G>T (p.Glu86Ter) c.1873G>T n.58-2880G>T c.644-2880G>T (n.644-2880G>T) c.129G>T | dbSNP gnomAD v2 |
14 | g.94619462A>C | CA390856404 | SERPINA3 | c.911A>C (p.Glu304Ala) c.257A>C (p.Glu86Ala) c.1874A>C n.58-2879A>C c.644-2879A>C (n.644-2879A>C) c.130A>C | gnomAD v4 |
14 | g.94619462A>G | CA390856402 | SERPINA3 | c.911A>G (p.Glu304Gly) c.257A>G (p.Glu86Gly) c.1874A>G n.58-2879A>G c.644-2879A>G (n.644-2879A>G) c.130A>G | |
14 | g.94619462A>T | CA390856400 | SERPINA3 | c.911A>T (p.Glu304Val) c.257A>T (p.Glu86Val) c.1874A>T n.58-2879A>T c.644-2879A>T (n.644-2879A>T) c.130A>T | |
14 | g.94619463G>A | CA487625314 | SERPINA3 | c.912G>A (p.Glu304=) c.258G>A (p.Glu86=) c.1875G>A n.58-2878G>A c.644-2878G>A (n.644-2878G>A) c.131G>A | |
14 | g.94619463G>C | CA390856405 | SERPINA3 | c.912G>C (p.Glu304Asp) c.258G>C (p.Glu86Asp) c.1875G>C n.58-2878G>C c.644-2878G>C (n.644-2878G>C) c.131G>C | |
14 | g.94619463G>T | CA390856407 | SERPINA3 | c.912G>T (p.Glu304Asp) c.258G>T (p.Glu86Asp) c.1875G>T n.58-2878G>T c.644-2878G>T (n.644-2878G>T) c.131G>T | |
14 | g.94619464T>A | CA390856410 | SERPINA3 | c.913T>A (p.Phe305Ile) c.259T>A (p.Phe87Ile) c.1876T>A n.58-2877T>A c.644-2877T>A (n.644-2877T>A) c.132T>A | |
14 | g.94619464T>C | CA390856413 | SERPINA3 | c.913T>C (p.Phe305Leu) c.259T>C (p.Phe87Leu) c.1876T>C n.58-2877T>C c.644-2877T>C (n.644-2877T>C) c.132T>C | |
14 | g.94619464T>G | CA390856424 | SERPINA3 | c.913T>G (p.Phe305Val) c.259T>G (p.Phe87Val) c.1876T>G n.58-2877T>G c.644-2877T>G (n.644-2877T>G) c.132T>G | |
14 | g.94619465T>A | CA390856429 | SERPINA3 | c.914T>A (p.Phe305Tyr) c.260T>A (p.Phe87Tyr) c.1877T>A n.58-2876T>A c.644-2876T>A (n.644-2876T>A) c.133T>A | |
14 | g.94619465T>C | CA390856432 | SERPINA3 | c.914T>C (p.Phe305Ser) c.260T>C (p.Phe87Ser) c.1877T>C n.58-2876T>C c.644-2876T>C (n.644-2876T>C) c.133T>C | |
14 | g.94619465T>G | CA390856434 | SERPINA3 | c.914T>G (p.Phe305Cys) c.260T>G (p.Phe87Cys) c.1877T>G n.58-2876T>G c.644-2876T>G (n.644-2876T>G) c.133T>G | |
14 | g.94619466C>A | CA390856437 | SERPINA3 | c.915C>A (p.Phe305Leu) c.261C>A (p.Phe87Leu) c.1878C>A n.58-2875C>A c.644-2875C>A (n.644-2875C>A) c.134C>A | |
14 | g.94619466C>G | CA390856440 | SERPINA3 | c.915C>G (p.Phe305Leu) c.261C>G (p.Phe87Leu) c.1878C>G n.58-2875C>G c.644-2875C>G (n.644-2875C>G) c.134C>G | |
14 | g.94619466C>T | CA487625315 | SERPINA3 | c.915C>T (p.Phe305=) c.261C>T (p.Phe87=) c.1878C>T n.58-2875C>T c.644-2875C>T (n.644-2875C>T) c.134C>T | |
14 | g.94619467A>C | CA487625316 | SERPINA3 | c.916A>C (p.Arg306=) c.262A>C (p.Arg88=) c.1879A>C c.916A>C n.58-2874A>C c.644-2874A>C (n.644-2874A>C) c.135A>C | |
14 | g.94619467A>G | CA390856444 | SERPINA3 | c.916A>G (p.Arg306Gly) c.262A>G (p.Arg88Gly) c.1879A>G c.916A>G n.58-2874A>G c.644-2874A>G (n.644-2874A>G) c.135A>G | |
14 | g.94619467A>T | CA390856446 | SERPINA3 | c.916A>T (p.Arg306Ter) c.262A>T (p.Arg88Ter) c.1879A>T c.916A>T n.58-2874A>T c.644-2874A>T (n.644-2874A>T) c.135A>T | |
14 | g.94619468G>A | CA390856453 | SERPINA3 | c.917G>A (p.Arg306Lys) c.263G>A (p.Arg88Lys) c.1880G>A c.917G>A n.58-2873G>A c.644-2873G>A (n.644-2873G>A) c.136G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619468G>C | CA7329918 | SERPINA3 | c.917G>C (p.Arg306Thr) c.263G>C (p.Arg88Thr) c.1880G>C c.917G>C n.58-2873G>C c.644-2873G>C (n.644-2873G>C) c.136G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619468G= | CA2156074164 | SERPINA3 | c.917G= (p.Arg306=) c.263G= (p.Arg88=) c.1880G= c.917G= n.58-2873G= c.644-2873G= (n.644-2873G=) c.136G= | |
14 | g.94619468G>T | CA390856451 | SERPINA3 | c.917G>T (p.Arg306Ile) c.263G>T (p.Arg88Ile) c.1880G>T c.917G>T n.58-2873G>T c.644-2873G>T (n.644-2873G>T) c.136G>T | |
14 | g.94619469G>A | CA7329920 | SERPINA3 | c.917+1G>A (n.917+1G>A) c.263+1G>A (n.263+1G>A) c.1880+1G>A n.58-2872G>A c.644-2872G>A (n.644-2872G>A) c.137G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.94619469G>C | CA265885306 | SERPINA3 | c.917+1G>C (n.917+1G>C) c.263+1G>C (n.263+1G>C) c.1880+1G>C n.58-2872G>C c.644-2872G>C (n.644-2872G>C) c.137G>C | dbSNP |
14 | g.94619469G= | CA2156074165 | SERPINA3 | c.917+1G= (n.917+1G=) c.263+1G= (n.263+1G=) c.1880+1G= n.58-2872G= c.644-2872G= (n.644-2872G=) c.137G= | |
14 | g.94619469G>T | CA7329919 | SERPINA3 | c.917+1G>T (n.917+1G>T) c.263+1G>T (n.263+1G>T) c.1880+1G>T n.58-2872G>T c.644-2872G>T (n.644-2872G>T) c.137G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619470T>A | CA265885308 | SERPINA3 | c.917+2T>A (n.917+2T>A) c.263+2T>A (n.263+2T>A) c.1880+2T>A n.58-2871T>A c.644-2871T>A (n.644-2871T>A) c.138T>A | dbSNP |
14 | g.94619470T>C | CA390856468 | SERPINA3 | c.917+2T>C (n.917+2T>C) c.263+2T>C (n.263+2T>C) c.1880+2T>C n.58-2871T>C c.644-2871T>C (n.644-2871T>C) c.138T>C | |
14 | g.94619470T>G | CA265885310 | SERPINA3 | c.917+2T>G (n.917+2T>G) c.263+2T>G (n.263+2T>G) c.1880+2T>G n.58-2871T>G c.644-2871T>G (n.644-2871T>G) c.138T>G | dbSNP |
14 | g.94619470T= | CA2156074166 | SERPINA3 | c.917+2T= (n.917+2T=) c.263+2T= (n.263+2T=) c.1880+2T= n.58-2871T= c.644-2871T= (n.644-2871T=) c.138T= | |
14 | g.94619471G>A | CA645581953 | SERPINA3 | c.917+3G>A (n.917+3G>A) c.263+3G>A (n.263+3G>A) c.1880+3G>A n.58-2870G>A c.644-2870G>A (n.644-2870G>A) c.139G>A | COSMIC COSMIC |
14 | g.94619476T>C | CA2626330359 | SERPINA3 | c.917+8T>C (n.917+8T>C) c.263+8T>C (n.263+8T>C) c.1880+8T>C n.58-2865T>C c.644-2865T>C (n.644-2865T>C) c.144T>C | gnomAD v4 |
14 | g.94619478C= | CA2156074167 | SERPINA3 | c.917+10C= (n.917+10C=) c.263+10C= (n.263+10C=) c.1880+10C= n.58-2863C= c.644-2863C= (n.644-2863C=) c.146C= | |
14 | g.94619478C>T | CA616115366 | SERPINA3 | c.917+10C>T (n.917+10C>T) c.263+10C>T (n.263+10C>T) c.1880+10C>T n.58-2863C>T c.644-2863C>T (n.644-2863C>T) c.146C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619480T>C | CA616115367 | SERPINA3 | c.917+12T>C (n.917+12T>C) c.263+12T>C (n.263+12T>C) c.1880+12T>C n.58-2861T>C c.644-2861T>C (n.644-2861T>C) c.148T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619480T>G | CA7329921 | SERPINA3 | c.917+12T>G (n.917+12T>G) c.263+12T>G (n.263+12T>G) c.1880+12T>G n.58-2861T>G c.644-2861T>G (n.644-2861T>G) c.148T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619480T= | CA2156074168 | SERPINA3 | c.917+12T= (n.917+12T=) c.263+12T= (n.263+12T=) c.1880+12T= n.58-2861T= c.644-2861T= (n.644-2861T=) c.148T= | |
14 | g.94619481G= | CA2156074169 | SERPINA3 | c.917+13G= (n.917+13G=) c.263+13G= (n.263+13G=) c.1880+13G= n.58-2860G= c.644-2860G= (n.644-2860G=) c.149G= | |
14 | g.94619481G>T | CA616115368 | SERPINA3 | c.917+13G>T (n.917+13G>T) c.263+13G>T (n.263+13G>T) c.1880+13G>T n.58-2860G>T c.644-2860G>T (n.644-2860G>T) c.149G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619482G= | CA2156074170 | SERPINA3 | c.917+14G= (n.917+14G=) c.263+14G= (n.263+14G=) c.1880+14G= n.58-2859G= c.644-2859G= (n.644-2859G=) c.150G= | |
14 | g.94619482G>T | CA616115369 | SERPINA3 | c.917+14G>T (n.917+14G>T) c.263+14G>T (n.263+14G>T) c.1880+14G>T n.58-2859G>T c.644-2859G>T (n.644-2859G>T) c.150G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619483C= | CA2156074171 | SERPINA3 | c.917+15C= (n.917+15C=) c.263+15C= (n.263+15C=) c.1880+15C= n.58-2858C= c.644-2858C= (n.644-2858C=) c.151C= | |
14 | g.94619483C>T | CA616115370 | SERPINA3 | c.917+15C>T (n.917+15C>T) c.263+15C>T (n.263+15C>T) c.1880+15C>T n.58-2858C>T c.644-2858C>T (n.644-2858C>T) c.151C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619487del | CA2626330361 | SERPINA3 | c.917+19del (n.917+19del) c.263+19del (n.263+19del) c.1880+19del n.58-2854del c.644-2854del (n.644-2854del) c.155del | dbSNP gnomAD v4 |
14 | g.94619484C>T | CA2626330362 | SERPINA3 | c.917+16C>T (n.917+16C>T) c.263+16C>T (n.263+16C>T) c.1880+16C>T n.58-2857C>T c.644-2857C>T (n.644-2857C>T) c.152C>T | gnomAD v4 |
14 | g.94619485C>T | CA2626330363 | SERPINA3 | c.917+17C>T (n.917+17C>T) c.263+17C>T (n.263+17C>T) c.1880+17C>T n.58-2856C>T c.644-2856C>T (n.644-2856C>T) c.153C>T | gnomAD v4 |
14 | g.94619486C>A | CA2626330364 | SERPINA3 | c.917+18C>A (n.917+18C>A) c.263+18C>A (n.263+18C>A) c.1880+18C>A n.58-2855C>A c.644-2855C>A (n.644-2855C>A) c.154C>A | gnomAD v4 |
14 | g.94619486C>G | CA2626330365 | SERPINA3 | c.917+18C>G (n.917+18C>G) c.263+18C>G (n.263+18C>G) c.1880+18C>G n.58-2855C>G c.644-2855C>G (n.644-2855C>G) c.154C>G | gnomAD v4 |
14 | g.94619487C>A | CA7329922 | SERPINA3 | c.917+19C>A (n.917+19C>A) c.263+19C>A (n.263+19C>A) c.1880+19C>A n.58-2854C>A c.644-2854C>A (n.644-2854C>A) c.155C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619487C= | CA2156074172 | SERPINA3 | c.917+19C= (n.917+19C=) c.263+19C= (n.263+19C=) c.1880+19C= n.58-2854C= c.644-2854C= (n.644-2854C=) c.155C= | |
14 | g.94619488A= | CA2156074173 | SERPINA3 | c.917+20A= (n.917+20A=) c.263+20A= (n.263+20A=) c.1880+20A= n.58-2853A= c.644-2853A= (n.644-2853A=) c.156A= | |
14 | g.94619488A>G | CA265885327 | SERPINA3 | c.917+20A>G (n.917+20A>G) c.263+20A>G (n.263+20A>G) c.1880+20A>G n.58-2853A>G c.644-2853A>G (n.644-2853A>G) c.156A>G | dbSNP |
14 | g.94619489A= | CA2156074174 | SERPINA3 | c.917+21A= (n.917+21A=) c.263+21A= (n.263+21A=) c.1880+21A= n.58-2852A= c.644-2852A= (n.644-2852A=) c.157A= | |
14 | g.94619489A>G | CA265885331 | SERPINA3 | c.917+21A>G (n.917+21A>G) c.263+21A>G (n.263+21A>G) c.1880+21A>G n.58-2852A>G c.644-2852A>G (n.644-2852A>G) c.157A>G | dbSNP gnomAD v4 |
14 | g.94619491_94619499del | CA2626330366 | SERPINA3 | c.917+23_917+31del (n.917+23_917+31del) c.263+23_263+31del (n.263+23_263+31del) c.1880+23_1880+31del n.58-2850_58-2842del c.644-2850_644-2842del (n.644-2850_644-2842del) c.159_167del | gnomAD v4 |
14 | g.94619491G>C | CA7329923 | SERPINA3 | c.917+23G>C (n.917+23G>C) c.263+23G>C (n.263+23G>C) c.1880+23G>C n.58-2850G>C c.644-2850G>C (n.644-2850G>C) c.159G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619491G= | CA2156074175 | SERPINA3 | c.917+23G= (n.917+23G=) c.263+23G= (n.263+23G=) c.1880+23G= n.58-2850G= c.644-2850G= (n.644-2850G=) c.159G= | |
14 | g.94619491G>T | CA2156074176 | SERPINA3 | c.917+23G>T (n.917+23G>T) c.263+23G>T (n.263+23G>T) c.1880+23G>T n.58-2850G>T c.644-2850G>T (n.644-2850G>T) c.159G>T | dbSNP gnomAD v4 |
14 | g.94619492A= | CA2156074178 | SERPINA3 | c.917+24A= (n.917+24A=) c.263+24A= (n.263+24A=) c.1880+24A= n.58-2849A= c.644-2849A= (n.644-2849A=) c.160A= | |
14 | g.94619492A>G | CA2626330367 | SERPINA3 | c.917+24A>G (n.917+24A>G) c.263+24A>G (n.263+24A>G) c.1880+24A>G n.58-2849A>G c.644-2849A>G (n.644-2849A>G) c.160A>G | gnomAD v4 |
14 | g.94619492A>T | CA2626330368 | SERPINA3 | c.917+24A>T (n.917+24A>T) c.263+24A>T (n.263+24A>T) c.1880+24A>T n.58-2849A>T c.644-2849A>T (n.644-2849A>T) c.160A>T | gnomAD v4 |
14 | g.94619492_94619493delinsAC | CA2156074177 | SERPINA3 | c.917+24_917+25delinsAC (n.917+24_917+25delinsAC) c.263+24_263+25delinsAC (n.263+24_263+25delinsAC) c.1880+24_1880+25delinsAC n.58-2849_58-2848delinsAC c.644-2849_644-2848delinsAC (n.644-2849_644-2848delinsAC) c.160_161delinsAC | |
14 | g.94619493C= | CA2156074179 | SERPINA3 | c.917+25C= (n.917+25C=) c.263+25C= (n.263+25C=) c.1880+25C= n.58-2848C= c.644-2848C= (n.644-2848C=) c.161C= | |
14 | g.94619493C>T | CA7329926 | SERPINA3 | c.917+25C>T (n.917+25C>T) c.263+25C>T (n.263+25C>T) c.1880+25C>T n.58-2848C>T c.644-2848C>T (n.644-2848C>T) c.161C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619496dup | CA265885365 | SERPINA3 | c.917+28dup (n.917+28dup) c.263+28dup (n.263+28dup) c.1880+28dup n.58-2845dup c.644-2845dup (n.644-2845dup) c.164dup | dbSNP |
14 | g.94619496del | CA7329924 | SERPINA3 | c.917+28del (n.917+28del) c.263+28del (n.263+28del) c.1880+28del n.58-2845del c.644-2845del (n.644-2845del) c.164del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619494_94619501dup | CA7329925 | SERPINA3 | c.917+26_917+33dup (n.917+26_917+33dup) c.263+26_263+33dup (n.263+26_263+33dup) c.1880+26_1880+33dup n.58-2847_58-2840dup c.644-2847_644-2840dup (n.644-2847_644-2840dup) c.162_169dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619493_94619494insA | CA2802669932 | SERPINA3 | c.917+25_917+26insA (n.917+25_917+26insA) c.263+25_263+26insA (n.263+25_263+26insA) c.1880+25_1880+26insA n.58-2848_58-2847insA c.644-2848_644-2847insA (n.644-2848_644-2847insA) c.161_162insA | |
14 | g.94619494C>A | CA2626330370 | SERPINA3 | c.917+26C>A (n.917+26C>A) c.263+26C>A (n.263+26C>A) c.1880+26C>A n.58-2847C>A c.644-2847C>A (n.644-2847C>A) c.162C>A | gnomAD v4 |
14 | g.94619494C= | CA2156074180 | SERPINA3 | c.917+26C= (n.917+26C=) c.263+26C= (n.263+26C=) c.1880+26C= n.58-2847C= c.644-2847C= (n.644-2847C=) c.162C= | |
14 | g.94619494C>G | CA7329927 | SERPINA3 | c.917+26C>G (n.917+26C>G) c.263+26C>G (n.263+26C>G) c.1880+26C>G n.58-2847C>G c.644-2847C>G (n.644-2847C>G) c.162C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619494C>T | CA2626330369 | SERPINA3 | c.917+26C>T (n.917+26C>T) c.263+26C>T (n.263+26C>T) c.1880+26C>T n.58-2847C>T c.644-2847C>T (n.644-2847C>T) c.162C>T | gnomAD v4 |
14 | g.94619495C>G | CA2730159369 | SERPINA3 | c.917+27C>G (n.917+27C>G) c.263+27C>G (n.263+27C>G) c.1880+27C>G n.58-2846C>G c.644-2846C>G (n.644-2846C>G) c.163C>G | dbSNP |
14 | g.94619496C>T | CA2626330371 | SERPINA3 | c.917+28C>T (n.917+28C>T) c.263+28C>T (n.263+28C>T) c.1880+28C>T n.58-2845C>T c.644-2845C>T (n.644-2845C>T) c.164C>T | gnomAD v4 |
14 | g.94619497_94619498insACA | CA2802669933 | SERPINA3 | c.917+29_917+30insACA (n.917+29_917+30insACA) c.263+29_263+30insACA (n.263+29_263+30insACA) c.1880+29_1880+30insACA n.58-2844_58-2843insACA c.644-2844_644-2843insACA (n.644-2844_644-2843insACA) c.165_166insACA | |
14 | g.94619497_94619498insAACACACCCAACA | CA2802669934 | SERPINA3 | c.917+29_917+30insAACACACCCAACA (n.917+29_917+30insAACACACCCAACA) c.263+29_263+30insAACACACCCAACA (n.263+29_263+30insAACACACCCAACA) c.1880+29_1880+30insAACACACCCAACA n.58-2844_58-2843insAACACACCCAACA c.644-2844_644-2843insAACACACCCAACA (n.644-2844_644-2843insAACACACCCAACA) c.165_166insAACACACCCAACA | |
14 | g.94619497A= | CA2156074181 | SERPINA3 | c.917+29A= (n.917+29A=) c.263+29A= (n.263+29A=) c.1880+29A= n.58-2844A= c.644-2844A= (n.644-2844A=) c.165A= | |
14 | g.94619497A>G | CA7329928 | SERPINA3 | c.917+29A>G (n.917+29A>G) c.263+29A>G (n.263+29A>G) c.1880+29A>G n.58-2844A>G c.644-2844A>G (n.644-2844A>G) c.165A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619497A>T | CA7329929 | SERPINA3 | c.917+29A>T (n.917+29A>T) c.263+29A>T (n.263+29A>T) c.1880+29A>T n.58-2844A>T c.644-2844A>T (n.644-2844A>T) c.165A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619498C>A | CA265885384 | SERPINA3 | c.917+30C>A (n.917+30C>A) c.263+30C>A (n.263+30C>A) c.1880+30C>A n.58-2843C>A c.644-2843C>A (n.644-2843C>A) c.166C>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619498C= | CA2156074182 | SERPINA3 | c.917+30C= (n.917+30C=) c.263+30C= (n.263+30C=) c.1880+30C= n.58-2843C= c.644-2843C= (n.644-2843C=) c.166C= | |
14 | g.94619498C>T | CA7329930 | SERPINA3 | c.917+30C>T (n.917+30C>T) c.263+30C>T (n.263+30C>T) c.1880+30C>T n.58-2843C>T c.644-2843C>T (n.644-2843C>T) c.166C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619499A>C | CA2557213340 | SERPINA3 | c.917+31A>C (n.917+31A>C) c.263+31A>C (n.263+31A>C) c.1880+31A>C n.58-2842A>C c.644-2842A>C (n.644-2842A>C) c.167A>C | gnomAD v4 |
14 | g.94619500T>C | CA616115371 | SERPINA3 | c.917+32T>C (n.917+32T>C) c.263+32T>C (n.263+32T>C) c.1880+32T>C n.58-2841T>C c.644-2841T>C (n.644-2841T>C) c.168T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619500T= | CA2156074183 | SERPINA3 | c.917+32T= (n.917+32T=) c.263+32T= (n.263+32T=) c.1880+32T= n.58-2841T= c.644-2841T= (n.644-2841T=) c.168T= | |
14 | g.94619501C>A | CA2626330372 | SERPINA3 | c.917+33C>A (n.917+33C>A) c.263+33C>A (n.263+33C>A) c.1880+33C>A n.58-2840C>A c.644-2840C>A (n.644-2840C>A) c.169C>A | gnomAD v4 |
14 | g.94619501C= | CA2156074184 | SERPINA3 | c.917+33C= (n.917+33C=) c.263+33C= (n.263+33C=) c.1880+33C= n.58-2840C= c.644-2840C= (n.644-2840C=) c.169C= | |
14 | g.94619501C>T | CA7329931 | SERPINA3 | c.917+33C>T (n.917+33C>T) c.263+33C>T (n.263+33C>T) c.1880+33C>T n.58-2840C>T c.644-2840C>T (n.644-2840C>T) c.169C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619502T>C | CA966148044 | SERPINA3 | c.917+34T>C (n.917+34T>C) c.263+34T>C (n.263+34T>C) c.1880+34T>C n.58-2839T>C c.644-2839T>C (n.644-2839T>C) c.170T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619502T= | CA2156074185 | SERPINA3 | c.917+34T= (n.917+34T=) c.263+34T= (n.263+34T=) c.1880+34T= n.58-2839T= c.644-2839T= (n.644-2839T=) c.170T= | |
14 | g.94619503C= | CA2156074186 | SERPINA3 | c.917+35C= (n.917+35C=) c.263+35C= (n.263+35C=) c.1880+35C= n.58-2838C= c.644-2838C= (n.644-2838C=) c.171C= | |
14 | g.94619503C>G | CA265885389 | SERPINA3 | c.917+35C>G (n.917+35C>G) c.263+35C>G (n.263+35C>G) c.1880+35C>G n.58-2838C>G c.644-2838C>G (n.644-2838C>G) c.171C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619504T>G | CA2626330373 | SERPINA3 | c.917+36T>G (n.917+36T>G) c.263+36T>G (n.263+36T>G) c.1880+36T>G n.58-2837T>G c.644-2837T>G (n.644-2837T>G) c.172T>G | gnomAD v4 |
14 | g.94619505C>A | CA616115372 | SERPINA3 | c.917+37C>A (n.917+37C>A) c.263+37C>A (n.263+37C>A) c.1880+37C>A n.58-2836C>A c.644-2836C>A (n.644-2836C>A) c.173C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619505C= | CA2156074187 | SERPINA3 | c.917+37C= (n.917+37C=) c.263+37C= (n.263+37C=) c.1880+37C= n.58-2836C= c.644-2836C= (n.644-2836C=) c.173C= | |
14 | g.94619505C>G | CA2156074188 | SERPINA3 | c.917+37C>G (n.917+37C>G) c.263+37C>G (n.263+37C>G) c.1880+37C>G n.58-2836C>G c.644-2836C>G (n.644-2836C>G) c.173C>G | dbSNP |
14 | g.94619506C= | CA2156074189 | SERPINA3 | c.917+38C= (n.917+38C=) c.263+38C= (n.263+38C=) c.1880+38C= n.58-2835C= c.644-2835C= (n.644-2835C=) c.174C= | |
14 | g.94619506C>T | CA710133551 | SERPINA3 | c.917+38C>T (n.917+38C>T) c.263+38C>T (n.263+38C>T) c.1880+38C>T n.58-2835C>T c.644-2835C>T (n.644-2835C>T) c.174C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619507A= | CA2156074190 | SERPINA3 | c.917+39A= (n.917+39A=) c.263+39A= (n.263+39A=) c.1880+39A= n.58-2834A= c.644-2834A= (n.644-2834A=) c.175A= | |
14 | g.94619507A>T | CA710133570 | SERPINA3 | c.917+39A>T (n.917+39A>T) c.263+39A>T (n.263+39A>T) c.1880+39A>T n.58-2834A>T c.644-2834A>T (n.644-2834A>T) c.175A>T | dbSNP |
14 | g.94619508C>A | CA7329933 | SERPINA3 | c.917+40C>A (n.917+40C>A) c.263+40C>A (n.263+40C>A) c.1880+40C>A n.58-2833C>A c.644-2833C>A (n.644-2833C>A) c.176C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619508C= | CA2156074191 | SERPINA3 | c.917+40C= (n.917+40C=) c.263+40C= (n.263+40C=) c.1880+40C= n.58-2833C= c.644-2833C= (n.644-2833C=) c.176C= | |
14 | g.94619508C>G | CA2581191359 | SERPINA3 | c.917+40C>G (n.917+40C>G) c.263+40C>G (n.263+40C>G) c.1880+40C>G n.58-2833C>G c.644-2833C>G (n.644-2833C>G) c.176C>G | gnomAD v4 |
14 | g.94619508C>T | CA7329932 | SERPINA3 | c.917+40C>T (n.917+40C>T) c.263+40C>T (n.263+40C>T) c.1880+40C>T n.58-2833C>T c.644-2833C>T (n.644-2833C>T) c.176C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619509G>A | CA7329934 | SERPINA3 | c.917+41G>A (n.917+41G>A) c.263+41G>A (n.263+41G>A) c.1880+41G>A n.58-2832G>A c.644-2832G>A (n.644-2832G>A) c.177G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619509G= | CA2156074192 | SERPINA3 | c.917+41G= (n.917+41G=) c.263+41G= (n.263+41G=) c.1880+41G= n.58-2832G= c.644-2832G= (n.644-2832G=) c.177G= | |
14 | g.94619509G>T | CA2156074193 | SERPINA3 | c.917+41G>T (n.917+41G>T) c.263+41G>T (n.263+41G>T) c.1880+41G>T n.58-2832G>T c.644-2832G>T (n.644-2832G>T) c.177G>T | dbSNP |
14 | g.94619511C= | CA2156074194 | SERPINA3 | c.917+43C= (n.917+43C=) c.263+43C= (n.263+43C=) c.1880+43C= n.58-2830C= c.644-2830C= (n.644-2830C=) c.179C= | |
14 | g.94619511C>G | CA2626330374 | SERPINA3 | c.917+43C>G (n.917+43C>G) c.263+43C>G (n.263+43C>G) c.1880+43C>G n.58-2830C>G c.644-2830C>G (n.644-2830C>G) c.179C>G | gnomAD v4 |
14 | g.94619511C>T | CA7329935 | SERPINA3 | c.917+43C>T (n.917+43C>T) c.263+43C>T (n.263+43C>T) c.1880+43C>T n.58-2830C>T c.644-2830C>T (n.644-2830C>T) c.179C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619512A>C | CA2626330375 | SERPINA3 | c.917+44A>C (n.917+44A>C) c.263+44A>C (n.263+44A>C) c.1880+44A>C n.58-2829A>C c.644-2829A>C (n.644-2829A>C) c.180A>C | gnomAD v4 |
14 | g.94619512A>T | CA2569053198 | SERPINA3 | c.917+44A>T (n.917+44A>T) c.263+44A>T (n.263+44A>T) c.1880+44A>T n.58-2829A>T c.644-2829A>T (n.644-2829A>T) c.180A>T | |
14 | g.94619513A= | CA2156074195 | SERPINA3 | c.917+45A= (n.917+45A=) c.263+45A= (n.263+45A=) c.1880+45A= n.58-2828A= c.644-2828A= (n.644-2828A=) c.181A= | |
14 | g.94619513A>G | CA7329936 | SERPINA3 | c.917+45A>G (n.917+45A>G) c.263+45A>G (n.263+45A>G) c.1880+45A>G n.58-2828A>G c.644-2828A>G (n.644-2828A>G) c.181A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |