Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.27232001A>C | CA346211199 | CAD | c.2422A>C (p.Lys808Gln) c.2233A>C (p.Lys745Gln) n.170A>C c.148A>C (p.Lys50Gln) | |
2 | g.27232001A>G | CA346211200 | CAD | c.2422A>G (p.Lys808Glu) c.2233A>G (p.Lys745Glu) n.170A>G c.148A>G (p.Lys50Glu) | |
2 | g.27232001A>T | CA346211201 | CAD | c.2422A>T (p.Lys808Ter) c.2233A>T (p.Lys745Ter) n.170A>T c.148A>T (p.Lys50Ter) | |
2 | g.27232002A= | CA1240180256 | CAD | c.2423A= (p.Lys808=) c.2234A= (p.Lys745=) n.171A= c.149A= (p.Lys50=) | |
2 | g.27232002A>C | CA346211203 | CAD | c.2423A>C (p.Lys808Thr) c.2234A>C (p.Lys745Thr) n.171A>C c.149A>C (p.Lys50Thr) | |
2 | g.27232002A>G | CA346211205 | CAD | c.2423A>G (p.Lys808Arg) c.2234A>G (p.Lys745Arg) n.171A>G c.149A>G (p.Lys50Arg) | dbSNP |
2 | g.27232002A>T | CA346211207 | CAD | c.2423A>T (p.Lys808Met) c.2234A>T (p.Lys745Met) n.171A>T c.149A>T (p.Lys50Met) | |
2 | g.27232003G>A | CA425384793 | CAD | c.2424G>A (p.Lys808=) c.2235G>A (p.Lys745=) n.172G>A c.150G>A (p.Lys50=) | |
2 | g.27232003G>C | CA346211209 | CAD | c.2424G>C (p.Lys808Asn) c.2235G>C (p.Lys745Asn) n.172G>C c.150G>C (p.Lys50Asn) | |
2 | g.27232003G>T | CA346211208 | CAD | c.2424G>T (p.Lys808Asn) c.2235G>T (p.Lys745Asn) n.172G>T c.150G>T (p.Lys50Asn) | |
2 | g.27232004C>A | CA425384794 | CAD | c.2425C>A (p.Arg809=) c.2236C>A (p.Arg746=) n.173C>A c.151C>A (p.Arg51=) | dbSNP |
2 | g.27232004C= | CA1240180257 | CAD | c.2425C= (p.Arg809=) c.2236C= (p.Arg746=) n.173C= c.151C= (p.Arg51=) | |
2 | g.27232004C>G | CA346211211 | CAD | c.2425C>G (p.Arg809Gly) c.2236C>G (p.Arg746Gly) n.173C>G c.151C>G (p.Arg51Gly) | |
2 | g.27232004C>T | CA346211213 | CAD | c.2425C>T (p.Arg809Trp) c.2236C>T (p.Arg746Trp) n.173C>T c.151C>T (p.Arg51Trp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27232005G>A | CA346211214 | CAD | c.2426G>A (p.Arg809Gln) c.2237G>A (p.Arg746Gln) n.174G>A c.152G>A (p.Arg51Gln) | ClinVar |
2 | g.27232005G>C | CA346211216 | CAD | c.2426G>C (p.Arg809Pro) c.2237G>C (p.Arg746Pro) n.174G>C c.152G>C (p.Arg51Pro) | |
2 | g.27232005G>T | CA346211217 | CAD | c.2426G>T (p.Arg809Leu) c.2237G>T (p.Arg746Leu) n.174G>T c.152G>T (p.Arg51Leu) | |
2 | g.27232006del | CA913090381 | CAD | c.2427del (p.Ile810PhefsTer?) c.2238del (p.Ile747PhefsTer?) n.175del c.153del (p.Ile52PhefsTer?) | |
2 | g.27232006G>A | CA425384795 | CAD | c.2427G>A (p.Arg809=) c.2238G>A (p.Arg746=) n.175G>A c.153G>A (p.Arg51=) | |
2 | g.27232006G>C | CA425384796 | CAD | c.2427G>C (p.Arg809=) c.2238G>C (p.Arg746=) n.175G>C c.153G>C (p.Arg51=) | |
2 | g.27232006G>T | CA425384797 | CAD | c.2427G>T (p.Arg809=) c.2238G>T (p.Arg746=) n.175G>T c.153G>T (p.Arg51=) | |
2 | g.27232007A>C | CA346211218 | CAD | c.2428A>C (p.Ile810Leu) c.2239A>C (p.Ile747Leu) n.176A>C c.154A>C (p.Ile52Leu) | |
2 | g.27232007A>G | CA346211220 | CAD | c.2428A>G (p.Ile810Val) c.2239A>G (p.Ile747Val) n.176A>G c.154A>G (p.Ile52Val) | gnomAD v4 |
2 | g.27232007A>T | CA346211221 | CAD | c.2428A>T (p.Ile810Phe) c.2239A>T (p.Ile747Phe) n.176A>T c.154A>T (p.Ile52Phe) | |
2 | g.27232008T>A | CA346211223 | CAD | c.2429T>A (p.Ile810Asn) c.2240T>A (p.Ile747Asn) n.177T>A c.155T>A (p.Ile52Asn) | |
2 | g.27232008T>C | CA346211225 | CAD | c.2429T>C (p.Ile810Thr) c.2240T>C (p.Ile747Thr) n.177T>C c.155T>C (p.Ile52Thr) | |
2 | g.27232008T>G | CA346211226 | CAD | c.2429T>G (p.Ile810Ser) c.2240T>G (p.Ile747Ser) n.177T>G c.155T>G (p.Ile52Ser) | |
2 | g.27232009T>A | CA425384798 | CAD | c.2430T>A (p.Ile810=) c.2241T>A (p.Ile747=) n.178T>A c.156T>A (p.Ile52=) | |
2 | g.27232009T>C | CA425384799 | CAD | c.2430T>C (p.Ile810=) c.2241T>C (p.Ile747=) n.178T>C c.156T>C (p.Ile52=) | |
2 | g.27232009T>G | CA346211228 | CAD | c.2430T>G (p.Ile810Met) c.2241T>G (p.Ile747Met) n.178T>G c.156T>G (p.Ile52Met) | |
2 | g.27232010T>A | CA346211231 | CAD | c.2431T>A (p.Phe811Ile) c.2242T>A (p.Phe748Ile) n.179T>A c.157T>A (p.Phe53Ile) | |
2 | g.27232010T>C | CA346211232 | CAD | c.2431T>C (p.Phe811Leu) c.2242T>C (p.Phe748Leu) n.179T>C c.157T>C (p.Phe53Leu) | |
2 | g.27232010T>G | CA346211230 | CAD | c.2431T>G (p.Phe811Val) c.2242T>G (p.Phe748Val) n.179T>G c.157T>G (p.Phe53Val) | |
2 | g.27232011T>A | CA346211233 | CAD | c.2432T>A (p.Phe811Tyr) c.2243T>A (p.Phe748Tyr) n.180T>A c.158T>A (p.Phe53Tyr) | |
2 | g.27232011T>C | CA346211234 | CAD | c.2432T>C (p.Phe811Ser) c.2243T>C (p.Phe748Ser) n.180T>C c.158T>C (p.Phe53Ser) | |
2 | g.27232011T>G | CA346211235 | CAD | c.2432T>G (p.Phe811Cys) c.2243T>G (p.Phe748Cys) n.180T>G c.158T>G (p.Phe53Cys) | |
2 | g.27232012T>A | CA346211236 | CAD | c.2433T>A (p.Phe811Leu) c.2244T>A (p.Phe748Leu) n.181T>A c.159T>A (p.Phe53Leu) | |
2 | g.27232012T>C | CA425384800 | CAD | c.2433T>C (p.Phe811=) c.2244T>C (p.Phe748=) n.181T>C c.159T>C (p.Phe53=) | |
2 | g.27232012T>G | CA1573024 | CAD | c.2433T>G (p.Phe811Leu) c.2244T>G (p.Phe748Leu) n.181T>G c.159T>G (p.Phe53Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27232012T= | CA1240180258 | CAD | c.2433T= (p.Phe811=) c.2244T= (p.Phe748=) n.181T= c.159T= (p.Phe53=) | |
2 | g.27232013G>A | CA346211241 | CAD | c.2434G>A (p.Val812Met) c.2245G>A (p.Val749Met) n.182G>A c.160G>A (p.Val54Met) | gnomAD v4 |
2 | g.27232013G>C | CA346211240 | CAD | c.2434G>C (p.Val812Leu) c.2245G>C (p.Val749Leu) n.182G>C c.160G>C (p.Val54Leu) | |
2 | g.27232013G>T | CA346211238 | CAD | c.2434G>T (p.Val812Leu) c.2245G>T (p.Val749Leu) n.182G>T c.160G>T (p.Val54Leu) | |
2 | g.27232014T>A | CA346211243 | CAD | c.2435T>A (p.Val812Glu) c.2246T>A (p.Val749Glu) n.183T>A c.161T>A (p.Val54Glu) | |
2 | g.27232014T>C | CA1573025 | CAD | c.2435T>C (p.Val812Ala) c.2246T>C (p.Val749Ala) n.183T>C c.161T>C (p.Val54Ala) | dbSNP ExAC gnomAD v4 |
2 | g.27232014T>G | CA346211245 | CAD | c.2435T>G (p.Val812Gly) c.2246T>G (p.Val749Gly) n.183T>G c.161T>G (p.Val54Gly) | |
2 | g.27232014T= | CA1240180259 | CAD | c.2435T= (p.Val812=) c.2246T= (p.Val749=) n.183T= c.161T= (p.Val54=) | |
2 | g.27232015G>A | CA425384803 | CAD | c.2436G>A (p.Val812=) c.2247G>A (p.Val749=) n.184G>A c.162G>A (p.Val54=) | |
2 | g.27232015G>C | CA425384802 | CAD | c.2436G>C (p.Val812=) c.2247G>C (p.Val749=) n.184G>C c.162G>C (p.Val54=) | |
2 | g.27232015G>T | CA425384801 | CAD | c.2436G>T (p.Val812=) c.2247G>T (p.Val749=) n.184G>T c.162G>T (p.Val54=) | gnomAD v4 |
2 | g.27232016G>A | CA346211247 | CAD | c.2437G>A (p.Val813Met) c.2248G>A (p.Val750Met) n.185G>A c.163G>A (p.Val55Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27232016G>C | CA346211248 | CAD | c.2437G>C (p.Val813Leu) c.2248G>C (p.Val750Leu) n.185G>C c.163G>C (p.Val55Leu) | |
2 | g.27232016G= | CA1240180260 | CAD | c.2437G= (p.Val813=) c.2248G= (p.Val750=) n.185G= c.163G= (p.Val55=) | |
2 | g.27232016G>T | CA346211249 | CAD | c.2437G>T (p.Val813Leu) c.2248G>T (p.Val750Leu) n.185G>T c.163G>T (p.Val55Leu) | gnomAD v4 |
2 | g.27232017T>A | CA346211251 | CAD | c.2438T>A (p.Val813Glu) c.2249T>A (p.Val750Glu) n.186T>A c.164T>A (p.Val55Glu) | |
2 | g.27232017T>C | CA346211255 | CAD | c.2438T>C (p.Val813Ala) c.2249T>C (p.Val750Ala) n.186T>C c.164T>C (p.Val55Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27232017T>G | CA346211253 | CAD | c.2438T>G (p.Val813Gly) c.2249T>G (p.Val750Gly) n.186T>G c.164T>G (p.Val55Gly) | |
2 | g.27232017T= | CA1240180261 | CAD | c.2438T= (p.Val813=) c.2249T= (p.Val750=) n.186T= c.164T= (p.Val55=) | |
2 | g.27232018G>A | CA425384806 | CAD | c.2439G>A (p.Val813=) c.2250G>A (p.Val750=) n.187G>A c.165G>A (p.Val55=) | gnomAD v4 |
2 | g.27232018G>C | CA425384805 | CAD | c.2439G>C (p.Val813=) c.2250G>C (p.Val750=) n.187G>C c.165G>C (p.Val55=) | |
2 | g.27232018G>T | CA425384804 | CAD | c.2439G>T (p.Val813=) c.2250G>T (p.Val750=) n.187G>T c.165G>T (p.Val55=) | COSMIC |
2 | g.27232019G>A | CA346211256 | CAD | c.2440G>A (p.Ala814Thr) c.2251G>A (p.Ala751Thr) n.188G>A c.166G>A (p.Ala56Thr) | |
2 | g.27232019G>C | CA346211257 | CAD | c.2440G>C (p.Ala814Pro) c.2251G>C (p.Ala751Pro) n.188G>C c.166G>C (p.Ala56Pro) | |
2 | g.27232019G>T | CA346211258 | CAD | c.2440G>T (p.Ala814Ser) c.2251G>T (p.Ala751Ser) n.188G>T c.166G>T (p.Ala56Ser) | gnomAD v4 |
2 | g.27232020C>A | CA346211261 | CAD | c.2441C>A (p.Ala814Glu) c.2252C>A (p.Ala751Glu) n.189C>A c.167C>A (p.Ala56Glu) | |
2 | g.27232020C>G | CA346211263 | CAD | c.2441C>G (p.Ala814Gly) c.2252C>G (p.Ala751Gly) n.189C>G c.167C>G (p.Ala56Gly) | |
2 | g.27232020C>T | CA346211264 | CAD | c.2441C>T (p.Ala814Val) c.2252C>T (p.Ala751Val) n.189C>T c.167C>T (p.Ala56Val) | |
2 | g.27232021A>C | CA425384807 | CAD | c.2442A>C (p.Ala814=) c.2253A>C (p.Ala751=) n.190A>C c.168A>C (p.Ala56=) | |
2 | g.27232021A>G | CA425384809 | CAD | c.2442A>G (p.Ala814=) c.2253A>G (p.Ala751=) n.190A>G c.168A>G (p.Ala56=) | |
2 | g.27232021A>T | CA425384808 | CAD | c.2442A>T (p.Ala814=) c.2253A>T (p.Ala751=) n.190A>T c.168A>T (p.Ala56=) | |
2 | g.27232022G>A | CA346211266 | CAD | c.2443G>A (p.Ala815Thr) c.2254G>A (p.Ala752Thr) n.191G>A c.169G>A (p.Ala57Thr) | |
2 | g.27232022G>C | CA346211268 | CAD | c.2443G>C (p.Ala815Pro) c.2254G>C (p.Ala752Pro) n.191G>C c.169G>C (p.Ala57Pro) | |
2 | g.27232022G>T | CA346211270 | CAD | c.2443G>T (p.Ala815Ser) c.2254G>T (p.Ala752Ser) n.191G>T c.169G>T (p.Ala57Ser) | |
2 | g.27232023C>A | CA346211271 | CAD | c.2444C>A (p.Ala815Asp) c.2255C>A (p.Ala752Asp) n.192C>A c.170C>A (p.Ala57Asp) | |
2 | g.27232023C= | CA1240180262 | CAD | c.2444C= (p.Ala815=) c.2255C= (p.Ala752=) n.192C= c.170C= (p.Ala57=) | |
2 | g.27232023C>G | CA346211273 | CAD | c.2444C>G (p.Ala815Gly) c.2255C>G (p.Ala752Gly) n.192C>G c.170C>G (p.Ala57Gly) | |
2 | g.27232023C>T | CA1573026 | CAD | c.2444C>T (p.Ala815Val) c.2255C>T (p.Ala752Val) n.192C>T c.170C>T (p.Ala57Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27232024T>A | CA425384810 | CAD | c.2445T>A (p.Ala815=) c.2256T>A (p.Ala752=) n.193T>A c.171T>A (p.Ala57=) | |
2 | g.27232024T>C | CA425384811 | CAD | c.2445T>C (p.Ala815=) c.2256T>C (p.Ala752=) n.193T>C c.171T>C (p.Ala57=) | |
2 | g.27232024T>G | CA425384812 | CAD | c.2445T>G (p.Ala815=) c.2256T>G (p.Ala752=) n.193T>G c.171T>G (p.Ala57=) | |
2 | g.27232025G>A | CA346211275 | CAD | c.2446G>A (p.Ala816Thr) c.2257G>A (p.Ala753Thr) n.194G>A c.172G>A (p.Ala58Thr) | |
2 | g.27232025G>C | CA346211278 | CAD | c.2446G>C (p.Ala816Pro) c.2257G>C (p.Ala753Pro) n.194G>C c.172G>C (p.Ala58Pro) | |
2 | g.27232025G>T | CA346211277 | CAD | c.2446G>T (p.Ala816Ser) c.2257G>T (p.Ala753Ser) n.194G>T c.172G>T (p.Ala58Ser) | |
2 | g.27232026C>A | CA346211280 | CAD | c.2447C>A (p.Ala816Asp) c.2258C>A (p.Ala753Asp) n.195C>A c.173C>A (p.Ala58Asp) | gnomAD v4 |
2 | g.27232026C>G | CA346211282 | CAD | c.2447C>G (p.Ala816Gly) c.2258C>G (p.Ala753Gly) n.195C>G c.173C>G (p.Ala58Gly) | |
2 | g.27232026C>T | CA346211284 | CAD | c.2447C>T (p.Ala816Val) c.2258C>T (p.Ala753Val) n.195C>T c.173C>T (p.Ala58Val) | gnomAD v4 |
2 | g.27232027T>A | CA425384813 | CAD | c.2448T>A (p.Ala816=) c.2259T>A (p.Ala753=) n.196T>A c.174T>A (p.Ala58=) | |
2 | g.27232027T>C | CA425384814 | CAD | c.2448T>C (p.Ala816=) c.2259T>C (p.Ala753=) n.196T>C c.174T>C (p.Ala58=) | |
2 | g.27232027T>G | CA425384815 | CAD | c.2448T>G (p.Ala816=) c.2259T>G (p.Ala753=) n.196T>G c.174T>G (p.Ala58=) | |
2 | g.27232028T>A | CA346211285 | CAD | c.2449T>A (p.Leu817Met) c.2260T>A (p.Leu754Met) n.197T>A c.175T>A (p.Leu59Met) | |
2 | g.27232028T>C | CA425384816 | CAD | c.2449T>C (p.Leu817=) c.2260T>C (p.Leu754=) n.197T>C c.175T>C (p.Leu59=) | |
2 | g.27232028T>G | CA346211286 | CAD | c.2449T>G (p.Leu817Val) c.2260T>G (p.Leu754Val) n.197T>G c.175T>G (p.Leu59Val) | |
2 | g.27232029T>A | CA346211288 | CAD | c.2450T>A (p.Leu817Ter) c.2261T>A (p.Leu754Ter) n.198T>A c.176T>A (p.Leu59Ter) | |
2 | g.27232029T>C | CA346211290 | CAD | c.2450T>C (p.Leu817Ser) c.2261T>C (p.Leu754Ser) n.198T>C c.176T>C (p.Leu59Ser) | |
2 | g.27232029T>G | CA346211291 | CAD | c.2450T>G (p.Leu817Trp) c.2261T>G (p.Leu754Trp) n.198T>G c.176T>G (p.Leu59Trp) | |
2 | g.27232030G>A | CA425384817 | CAD | c.2451G>A (p.Leu817=) c.2262G>A (p.Leu754=) n.199G>A c.177G>A (p.Leu59=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.27232030G>C | CA346211293 | CAD | c.2451G>C (p.Leu817Phe) c.2262G>C (p.Leu754Phe) n.199G>C c.177G>C (p.Leu59Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27232030G= | CA1240180263 | CAD | c.2451G= (p.Leu817=) c.2262G= (p.Leu754=) n.199G= c.177G= (p.Leu59=) | |
2 | g.27232030G>T | CA346211294 | CAD | c.2451G>T (p.Leu817Phe) c.2262G>T (p.Leu754Phe) n.199G>T c.177G>T (p.Leu59Phe) | |
2 | g.27232031T>A | CA346211296 | CAD | c.2452T>A (p.Trp818Arg) c.2263T>A (p.Trp755Arg) n.200T>A c.178T>A (p.Trp60Arg) | |
2 | g.27232031T>C | CA346211298 | CAD | c.2452T>C (p.Trp818Arg) c.2263T>C (p.Trp755Arg) n.200T>C c.178T>C (p.Trp60Arg) | |
2 | g.27232031T>G | CA346211300 | CAD | c.2452T>G (p.Trp818Gly) c.2263T>G (p.Trp755Gly) n.200T>G c.178T>G (p.Trp60Gly) | |
2 | g.27232032G>A | CA346211301 | CAD | c.2453G>A (p.Trp818Ter) c.2264G>A (p.Trp755Ter) n.201G>A c.179G>A (p.Trp60Ter) | ClinVar |
2 | g.27232032G>C | CA346211303 | CAD | c.2453G>C (p.Trp818Ser) c.2264G>C (p.Trp755Ser) n.201G>C c.179G>C (p.Trp60Ser) | |
2 | g.27232032G>T | CA346211306 | CAD | c.2453G>T (p.Trp818Leu) c.2264G>T (p.Trp755Leu) n.201G>T c.179G>T (p.Trp60Leu) | gnomAD v4 |
2 | g.27232033G>A | CA346211307 | CAD | c.2454G>A (p.Trp818Ter) c.2265G>A (p.Trp755Ter) n.202G>A c.180G>A (p.Trp60Ter) | |
2 | g.27232033G>C | CA346211311 | CAD | c.2454G>C (p.Trp818Cys) c.2265G>C (p.Trp755Cys) n.202G>C c.180G>C (p.Trp60Cys) | |
2 | g.27232033G>T | CA346211309 | CAD | c.2454G>T (p.Trp818Cys) c.2265G>T (p.Trp755Cys) n.202G>T c.180G>T (p.Trp60Cys) | |
2 | g.27232034G>A | CA346211312 | CAD | c.2455G>A (p.Ala819Thr) c.2266G>A (p.Ala756Thr) n.203G>A c.181G>A (p.Ala61Thr) | |
2 | g.27232034G>C | CA346211314 | CAD | c.2455G>C (p.Ala819Pro) c.2266G>C (p.Ala756Pro) n.203G>C c.181G>C (p.Ala61Pro) | COSMIC |
2 | g.27232034G>T | CA346211315 | CAD | c.2455G>T (p.Ala819Ser) c.2266G>T (p.Ala756Ser) n.203G>T c.181G>T (p.Ala61Ser) | |
2 | g.27232035C>A | CA346211317 | CAD | c.2456C>A (p.Ala819Asp) c.2267C>A (p.Ala756Asp) n.204C>A c.182C>A (p.Ala61Asp) | |
2 | g.27232035C>G | CA346211319 | CAD | c.2456C>G (p.Ala819Gly) c.2267C>G (p.Ala756Gly) n.204C>G c.182C>G (p.Ala61Gly) | |
2 | g.27232035C>T | CA346211320 | CAD | c.2456C>T (p.Ala819Val) c.2267C>T (p.Ala756Val) n.204C>T c.182C>T (p.Ala61Val) | |
2 | g.27232036T>A | CA425384818 | CAD | c.2457T>A (p.Ala819=) c.2268T>A (p.Ala756=) n.205T>A c.183T>A (p.Ala61=) | |
2 | g.27232036T>C | CA425384819 | CAD | c.2457T>C (p.Ala819=) c.2268T>C (p.Ala756=) n.205T>C c.183T>C (p.Ala61=) | ClinVar gnomAD v4 |
2 | g.27232036T>G | CA425384820 | CAD | c.2457T>G (p.Ala819=) c.2268T>G (p.Ala756=) n.205T>G c.183T>G (p.Ala61=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27232036T= | CA1240180264 | CAD | c.2457T= (p.Ala819=) c.2268T= (p.Ala756=) n.205T= c.183T= (p.Ala61=) | |
2 | g.27232037G>A | CA346211322 | CAD | c.2458G>A (p.Gly820Ser) c.2269G>A (p.Gly757Ser) n.206G>A c.184G>A (p.Gly62Ser) | |
2 | g.27232037G>C | CA346211324 | CAD | c.2458G>C (p.Gly820Arg) c.2269G>C (p.Gly757Arg) n.206G>C c.184G>C (p.Gly62Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27232037G= | CA1240180265 | CAD | c.2458G= (p.Gly820=) c.2269G= (p.Gly757=) n.206G= c.184G= (p.Gly62=) | |
2 | g.27232037G>T | CA346211325 | CAD | c.2458G>T (p.Gly820Cys) c.2269G>T (p.Gly757Cys) n.206G>T c.184G>T (p.Gly62Cys) | COSMIC |
2 | g.27232038G>A | CA346211326 | CAD | c.2459G>A (p.Gly820Asp) c.2270G>A (p.Gly757Asp) n.207G>A c.185G>A (p.Gly62Asp) | gnomAD v4 |
2 | g.27232038G>C | CA346211327 | CAD | c.2459G>C (p.Gly820Ala) c.2270G>C (p.Gly757Ala) n.207G>C c.185G>C (p.Gly62Ala) | gnomAD v4 |
2 | g.27232038G>T | CA346211328 | CAD | c.2459G>T (p.Gly820Val) c.2270G>T (p.Gly757Val) n.207G>T c.185G>T (p.Gly62Val) | |
2 | g.27232039T>A | CA425384821 | CAD | c.2460T>A (p.Gly820=) c.2271T>A (p.Gly757=) n.208T>A c.186T>A (p.Gly62=) | |
2 | g.27232039T>C | CA425384822 | CAD | c.2460T>C (p.Gly820=) c.2271T>C (p.Gly757=) n.208T>C c.186T>C (p.Gly62=) | |
2 | g.27232039T>G | CA425384823 | CAD | c.2460T>G (p.Gly820=) c.2271T>G (p.Gly757=) n.208T>G c.186T>G (p.Gly62=) | |
2 | g.27232040T>A | CA346211329 | CAD | c.2461T>A (p.Tyr821Asn) c.2272T>A (p.Tyr758Asn) n.209T>A c.187T>A (p.Tyr63Asn) | |
2 | g.27232040T>C | CA346211331 | CAD | c.2461T>C (p.Tyr821His) c.2272T>C (p.Tyr758His) n.209T>C c.187T>C (p.Tyr63His) | |
2 | g.27232040T>G | CA346211330 | CAD | c.2461T>G (p.Tyr821Asp) c.2272T>G (p.Tyr758Asp) n.209T>G c.187T>G (p.Tyr63Asp) | COSMIC |
2 | g.27232041A>C | CA346211332 | CAD | c.2462A>C (p.Tyr821Ser) c.2273A>C (p.Tyr758Ser) n.210A>C c.188A>C (p.Tyr63Ser) | |
2 | g.27232041A>G | CA346211333 | CAD | c.2462A>G (p.Tyr821Cys) c.2273A>G (p.Tyr758Cys) n.210A>G c.188A>G (p.Tyr63Cys) | |
2 | g.27232041A>T | CA346211334 | CAD | c.2462A>T (p.Tyr821Phe) c.2273A>T (p.Tyr758Phe) n.210A>T c.188A>T (p.Tyr63Phe) | gnomAD v4 |
2 | g.27232042T>A | CA346211335 | CAD | c.2463T>A (p.Tyr821Ter) c.2274T>A (p.Tyr758Ter) n.211T>A c.189T>A (p.Tyr63Ter) | |
2 | g.27232042T>C | CA425384824 | CAD | c.2463T>C (p.Tyr821=) c.2274T>C (p.Tyr758=) n.211T>C c.189T>C (p.Tyr63=) | |
2 | g.27232042T>G | CA346211336 | CAD | c.2463T>G (p.Tyr821Ter) c.2274T>G (p.Tyr758Ter) n.211T>G c.189T>G (p.Tyr63Ter) | |
2 | g.27232043T>A | CA346211340 | CAD | c.2464T>A (p.Ser822Thr) c.2275T>A (p.Ser759Thr) n.212T>A c.190T>A (p.Ser64Thr) | |
2 | g.27232043T>C | CA346211339 | CAD | c.2464T>C (p.Ser822Pro) c.2275T>C (p.Ser759Pro) n.212T>C c.190T>C (p.Ser64Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27232043T>G | CA346211338 | CAD | c.2464T>G (p.Ser822Ala) c.2275T>G (p.Ser759Ala) n.212T>G c.190T>G (p.Ser64Ala) | |
2 | g.27232043T= | CA1240180266 | CAD | c.2464T= (p.Ser822=) c.2275T= (p.Ser759=) n.212T= c.190T= (p.Ser64=) | |
2 | g.27232044C>A | CA346211341 | CAD | c.2465C>A (p.Ser822Ter) c.2276C>A (p.Ser759Ter) n.213C>A c.191C>A (p.Ser64Ter) | |
2 | g.27232044C>G | CA346211344 | CAD | c.2465C>G (p.Ser822Ter) c.2276C>G (p.Ser759Ter) n.213C>G c.191C>G (p.Ser64Ter) | |
2 | g.27232044C>T | CA346211345 | CAD | c.2465C>T (p.Ser822Leu) c.2276C>T (p.Ser759Leu) n.213C>T c.191C>T (p.Ser64Leu) | |
2 | g.27232045A>C | CA425384825 | CAD | c.2466A>C (p.Ser822=) c.2277A>C (p.Ser759=) n.214A>C c.192A>C (p.Ser64=) | |
2 | g.27232045A>G | CA425384826 | CAD | c.2466A>G (p.Ser822=) c.2277A>G (p.Ser759=) n.214A>G c.192A>G (p.Ser64=) | ClinVar gnomAD v4 |
2 | g.27232045A>T | CA425384827 | CAD | c.2466A>T (p.Ser822=) c.2277A>T (p.Ser759=) n.214A>T c.192A>T (p.Ser64=) | gnomAD v4 |
2 | g.27232046G>A | CA346211347 | CAD | c.2467G>A (p.Val823Met) c.2278G>A (p.Val760Met) n.215G>A c.193G>A (p.Val65Met) | ClinVar dbSNP |
2 | g.27232046G>C | CA346211348 | CAD | c.2467G>C (p.Val823Leu) c.2278G>C (p.Val760Leu) n.215G>C c.193G>C (p.Val65Leu) | gnomAD v4 COSMIC |
2 | g.27232046G= | CA1240180267 | CAD | c.2467G= (p.Val823=) c.2278G= (p.Val760=) n.215G= c.193G= (p.Val65=) | |
2 | g.27232046G>T | CA346211349 | CAD | c.2467G>T (p.Val823Leu) c.2278G>T (p.Val760Leu) n.215G>T c.193G>T (p.Val65Leu) | |
2 | g.27232047T>A | CA1573027 | CAD | c.2468T>A (p.Val823Glu) c.2279T>A (p.Val760Glu) n.216T>A c.194T>A (p.Val65Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27232047T>C | CA346211353 | CAD | c.2468T>C (p.Val823Ala) c.2279T>C (p.Val760Ala) n.216T>C c.194T>C (p.Val65Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.27232047T>G | CA346211352 | CAD | c.2468T>G (p.Val823Gly) c.2279T>G (p.Val760Gly) n.216T>G c.194T>G (p.Val65Gly) | |
2 | g.27232047T= | CA1240180268 | CAD | c.2468T= (p.Val823=) c.2279T= (p.Val760=) n.216T= c.194T= (p.Val65=) | |
2 | g.27232048G>A | CA425384828 | CAD | c.2469G>A (p.Val823=) c.2280G>A (p.Val760=) n.217G>A c.195G>A (p.Val65=) | |
2 | g.27232048G>C | CA425384830 | CAD | c.2469G>C (p.Val823=) c.2280G>C (p.Val760=) n.217G>C c.195G>C (p.Val65=) | |
2 | g.27232048G>T | CA425384829 | CAD | c.2469G>T (p.Val823=) c.2280G>T (p.Val760=) n.217G>T c.195G>T (p.Val65=) | |
2 | g.27232049G>A | CA346211355 | CAD | c.2470G>A (p.Asp824Asn) c.2281G>A (p.Asp761Asn) n.218G>A c.196G>A (p.Asp66Asn) | |
2 | g.27232049G>C | CA346211356 | CAD | c.2470G>C (p.Asp824His) c.2281G>C (p.Asp761His) n.218G>C c.196G>C (p.Asp66His) | |
2 | g.27232049G>T | CA346211358 | CAD | c.2470G>T (p.Asp824Tyr) c.2281G>T (p.Asp761Tyr) n.218G>T c.196G>T (p.Asp66Tyr) | |
2 | g.27232050A= | CA1240180269 | CAD | c.2471A= (p.Asp824=) c.2282A= (p.Asp761=) n.219A= c.197A= (p.Asp66=) | |
2 | g.27232050A>C | CA346211360 | CAD | c.2471A>C (p.Asp824Ala) c.2282A>C (p.Asp761Ala) n.219A>C c.197A>C (p.Asp66Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27232050A>G | CA1573028 | CAD | c.2471A>G (p.Asp824Gly) c.2282A>G (p.Asp761Gly) n.219A>G c.197A>G (p.Asp66Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27232050A>T | CA346211362 | CAD | c.2471A>T (p.Asp824Val) c.2282A>T (p.Asp761Val) n.219A>T c.197A>T (p.Asp66Val) | |
2 | g.27232050_27232052del | CA2658308555 | CAD | c.2471_2473del (p.Asp824_Arg825delinsGly) c.2282_2284del (p.Asp761_Arg762delinsGly) n.219_221del c.197_199del (p.Asp66_Arg67delinsGly) | gnomAD v4 |
2 | g.27232051C>A | CA346211365 | CAD | c.2472C>A (p.Asp824Glu) c.2283C>A (p.Asp761Glu) n.220C>A c.198C>A (p.Asp66Glu) | |
2 | g.27232051C= | CA1240180270 | CAD | c.2472C= (p.Asp824=) c.2283C= (p.Asp761=) n.220C= c.198C= (p.Asp66=) | |
2 | g.27232051C>G | CA346211366 | CAD | c.2472C>G (p.Asp824Glu) c.2283C>G (p.Asp761Glu) n.220C>G c.198C>G (p.Asp66Glu) | |
2 | g.27232051C>T | CA425384831 | CAD | c.2472C>T (p.Asp824=) c.2283C>T (p.Asp761=) n.220C>T c.198C>T (p.Asp66=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27232052C>A | CA346211367 | CAD | c.2473C>A (p.Arg825Ser) c.2284C>A (p.Arg762Ser) n.221C>A c.199C>A (p.Arg67Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.27232052C= | CA1240180271 | CAD | c.2473C= (p.Arg825=) c.2284C= (p.Arg762=) n.221C= c.199C= (p.Arg67=) | |
2 | g.27232052C>G | CA346211369 | CAD | c.2473C>G (p.Arg825Gly) c.2284C>G (p.Arg762Gly) n.221C>G c.199C>G (p.Arg67Gly) | |
2 | g.27232052C>T | CA44507083 | CAD | c.2473C>T (p.Arg825Cys) c.2284C>T (p.Arg762Cys) n.221C>T c.199C>T (p.Arg67Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232053G>A | CA1573029 | CAD | c.2474G>A (p.Arg825His) c.2285G>A (p.Arg762His) n.222G>A c.200G>A (p.Arg67His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232053G>C | CA346211372 | CAD | c.2474G>C (p.Arg825Pro) c.2285G>C (p.Arg762Pro) n.222G>C c.200G>C (p.Arg67Pro) | |
2 | g.27232053G= | CA1240180272 | CAD | c.2474G= (p.Arg825=) c.2285G= (p.Arg762=) n.222G= c.200G= (p.Arg67=) | |
2 | g.27232053G>T | CA346211374 | CAD | c.2474G>T (p.Arg825Leu) c.2285G>T (p.Arg762Leu) n.222G>T c.200G>T (p.Arg67Leu) | gnomAD v4 |
2 | g.27232054C>A | CA425384832 | CAD | c.2475C>A (p.Arg825=) c.2286C>A (p.Arg762=) n.223C>A c.201C>A (p.Arg67=) | |
2 | g.27232054C>G | CA425384834 | CAD | c.2475C>G (p.Arg825=) c.2286C>G (p.Arg762=) n.223C>G c.201C>G (p.Arg67=) | |
2 | g.27232054C>T | CA425384833 | CAD | c.2475C>T (p.Arg825=) c.2286C>T (p.Arg762=) n.223C>T c.201C>T (p.Arg67=) | gnomAD v4 |
2 | g.27232055C>A | CA346211376 | CAD | c.2476C>A (p.Leu826Met) c.2287C>A (p.Leu763Met) n.224C>A c.202C>A (p.Leu68Met) | dbSNP |
2 | g.27232055C= | CA1240180273 | CAD | c.2476C= (p.Leu826=) c.2287C= (p.Leu763=) n.224C= c.202C= (p.Leu68=) | |
2 | g.27232055C>G | CA346211377 | CAD | c.2476C>G (p.Leu826Val) c.2287C>G (p.Leu763Val) n.224C>G c.202C>G (p.Leu68Val) | |
2 | g.27232055C>T | CA425384835 | CAD | c.2476C>T (p.Leu826=) c.2287C>T (p.Leu763=) n.224C>T c.202C>T (p.Leu68=) | |
2 | g.27232056T>A | CA346211380 | CAD | c.2477T>A (p.Leu826Gln) c.2288T>A (p.Leu763Gln) n.225T>A c.203T>A (p.Leu68Gln) | |
2 | g.27232056T>C | CA346211381 | CAD | c.2477T>C (p.Leu826Pro) c.2288T>C (p.Leu763Pro) n.225T>C c.203T>C (p.Leu68Pro) | |
2 | g.27232056T>G | CA346211383 | CAD | c.2477T>G (p.Leu826Arg) c.2288T>G (p.Leu763Arg) n.225T>G c.203T>G (p.Leu68Arg) | |
2 | g.27232057G>A | CA425384836 | CAD | c.2478G>A (p.Leu826=) c.2289G>A (p.Leu763=) n.226G>A c.204G>A (p.Leu68=) | dbSNP gnomAD v4 |
2 | g.27232057G>C | CA425384837 | CAD | c.2478G>C (p.Leu826=) c.2289G>C (p.Leu763=) n.226G>C c.204G>C (p.Leu68=) | |
2 | g.27232057G= | CA1240180274 | CAD | c.2478G= (p.Leu826=) c.2289G= (p.Leu763=) n.226G= c.204G= (p.Leu68=) | |
2 | g.27232057G>T | CA425384838 | CAD | c.2478G>T (p.Leu826=) c.2289G>T (p.Leu763=) n.226G>T c.204G>T (p.Leu68=) | |
2 | g.27232058T>A | CA346211384 | CAD | c.2479T>A (p.Tyr827Asn) c.2290T>A (p.Tyr764Asn) n.227T>A c.205T>A (p.Tyr69Asn) | |
2 | g.27232058T>C | CA346211385 | CAD | c.2479T>C (p.Tyr827His) c.2290T>C (p.Tyr764His) n.227T>C c.205T>C (p.Tyr69His) | |
2 | g.27232058T>G | CA346211388 | CAD | c.2479T>G (p.Tyr827Asp) c.2290T>G (p.Tyr764Asp) n.227T>G c.205T>G (p.Tyr69Asp) | |
2 | g.27232059A>C | CA346211390 | CAD | c.2480A>C (p.Tyr827Ser) c.2291A>C (p.Tyr764Ser) n.228A>C c.206A>C (p.Tyr69Ser) | |
2 | g.27232059A>G | CA346211391 | CAD | c.2480A>G (p.Tyr827Cys) c.2291A>G (p.Tyr764Cys) n.228A>G c.206A>G (p.Tyr69Cys) | |
2 | g.27232059A>T | CA346211393 | CAD | c.2480A>T (p.Tyr827Phe) c.2291A>T (p.Tyr764Phe) n.228A>T c.206A>T (p.Tyr69Phe) | |
2 | g.27232060T>A | CA346211395 | CAD | c.2481T>A (p.Tyr827Ter) c.2292T>A (p.Tyr764Ter) n.229T>A c.207T>A (p.Tyr69Ter) | |
2 | g.27232060T>C | CA425384839 | CAD | c.2481T>C (p.Tyr827=) c.2292T>C (p.Tyr764=) n.229T>C c.207T>C (p.Tyr69=) | |
2 | g.27232060T>G | CA346211397 | CAD | c.2481T>G (p.Tyr827Ter) c.2292T>G (p.Tyr764Ter) n.229T>G c.207T>G (p.Tyr69Ter) | |
2 | g.27232061G>A | CA346211401 | CAD | c.2482G>A (p.Glu828Lys) c.2293G>A (p.Glu765Lys) n.230G>A c.208G>A (p.Glu70Lys) | |
2 | g.27232061G>C | CA1573030 | CAD | c.2482G>C (p.Glu828Gln) c.2293G>C (p.Glu765Gln) n.230G>C c.208G>C (p.Glu70Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27232061G= | CA1240180275 | CAD | c.2482G= (p.Glu828=) c.2293G= (p.Glu765=) n.230G= c.208G= (p.Glu70=) | |
2 | g.27232061G>T | CA346211399 | CAD | c.2482G>T (p.Glu828Ter) c.2293G>T (p.Glu765Ter) n.230G>T c.208G>T (p.Glu70Ter) | |
2 | g.27232062A>C | CA346211403 | CAD | c.2483A>C (p.Glu828Ala) c.2294A>C (p.Glu765Ala) n.231A>C c.209A>C (p.Glu70Ala) | |
2 | g.27232062A>G | CA346211404 | CAD | c.2483A>G (p.Glu828Gly) c.2294A>G (p.Glu765Gly) n.231A>G c.209A>G (p.Glu70Gly) | |
2 | g.27232062A>T | CA346211405 | CAD | c.2483A>T (p.Glu828Val) c.2294A>T (p.Glu765Val) n.231A>T c.209A>T (p.Glu70Val) | |
2 | g.27232063G>A | CA425384840 | CAD | c.2484G>A (p.Glu828=) c.2295G>A (p.Glu765=) n.232G>A c.210G>A (p.Glu70=) | |
2 | g.27232063G>C | CA346211407 | CAD | c.2484G>C (p.Glu828Asp) c.2295G>C (p.Glu765Asp) n.232G>C c.210G>C (p.Glu70Asp) | |
2 | g.27232063G>T | CA346211409 | CAD | c.2484G>T (p.Glu828Asp) c.2295G>T (p.Glu765Asp) n.232G>T c.210G>T (p.Glu70Asp) | |
2 | g.27232064C>A | CA346211411 | CAD | c.2485C>A (p.Leu829Ile) c.2296C>A (p.Leu766Ile) n.233C>A c.211C>A (p.Leu71Ile) | gnomAD v4 |
2 | g.27232064C= | CA1240180276 | CAD | c.2485C= (p.Leu829=) c.2296C= (p.Leu766=) n.233C= c.211C= (p.Leu71=) | |
2 | g.27232064C>G | CA346211412 | CAD | c.2485C>G (p.Leu829Val) c.2296C>G (p.Leu766Val) n.233C>G c.211C>G (p.Leu71Val) | |
2 | g.27232064C>T | CA346211414 | CAD | c.2485C>T (p.Leu829Phe) c.2296C>T (p.Leu766Phe) n.233C>T c.211C>T (p.Leu71Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232065T>A | CA346211416 | CAD | c.2486T>A (p.Leu829His) c.2297T>A (p.Leu766His) n.234T>A c.212T>A (p.Leu71His) | |
2 | g.27232065T>C | CA346211418 | CAD | c.2486T>C (p.Leu829Pro) c.2297T>C (p.Leu766Pro) n.234T>C c.212T>C (p.Leu71Pro) | |
2 | g.27232065T>G | CA346211419 | CAD | c.2486T>G (p.Leu829Arg) c.2297T>G (p.Leu766Arg) n.234T>G c.212T>G (p.Leu71Arg) | |
2 | g.27232066C>A | CA425384841 | CAD | c.2487C>A (p.Leu829=) c.2298C>A (p.Leu766=) n.235C>A c.213C>A (p.Leu71=) | |
2 | g.27232066C>G | CA425384842 | CAD | c.2487C>G (p.Leu829=) c.2298C>G (p.Leu766=) n.235C>G c.213C>G (p.Leu71=) | |
2 | g.27232066C>T | CA425384843 | CAD | c.2487C>T (p.Leu829=) c.2298C>T (p.Leu766=) n.235C>T c.213C>T (p.Leu71=) | |
2 | g.27232067A>C | CA346211420 | CAD | c.2488A>C (p.Thr830Pro) c.2299A>C (p.Thr767Pro) n.236A>C c.214A>C (p.Thr72Pro) | |
2 | g.27232067A>G | CA346211422 | CAD | c.2488A>G (p.Thr830Ala) c.2299A>G (p.Thr767Ala) n.236A>G c.214A>G (p.Thr72Ala) | |
2 | g.27232067A>T | CA346211426 | CAD | c.2488A>T (p.Thr830Ser) c.2299A>T (p.Thr767Ser) n.236A>T c.214A>T (p.Thr72Ser) | |
2 | g.27232068C>A | CA346211431 | CAD | c.2489C>A (p.Thr830Lys) c.2300C>A (p.Thr767Lys) n.237C>A c.215C>A (p.Thr72Lys) | |
2 | g.27232068C>G | CA346211429 | CAD | c.2489C>G (p.Thr830Arg) c.2300C>G (p.Thr767Arg) n.237C>G c.215C>G (p.Thr72Arg) | |
2 | g.27232068C>T | CA346211428 | CAD | c.2489C>T (p.Thr830Ile) c.2300C>T (p.Thr767Ile) n.237C>T c.215C>T (p.Thr72Ile) | |
2 | g.27232069A>C | CA425384844 | CAD | c.2490A>C (p.Thr830=) c.2301A>C (p.Thr767=) n.238A>C c.216A>C (p.Thr72=) | |
2 | g.27232069A>G | CA425384845 | CAD | c.2490A>G (p.Thr830=) c.2301A>G (p.Thr767=) n.238A>G c.216A>G (p.Thr72=) | |
2 | g.27232069A>T | CA425384846 | CAD | c.2490A>T (p.Thr830=) c.2301A>T (p.Thr767=) n.238A>T c.216A>T (p.Thr72=) | |
2 | g.27232070C>A | CA346211432 | CAD | c.2491C>A (p.Arg831Ser) c.2302C>A (p.Arg768Ser) n.239C>A c.217C>A (p.Arg73Ser) | gnomAD v4 |
2 | g.27232070C>G | CA346211434 | CAD | c.2491C>G (p.Arg831Gly) c.2302C>G (p.Arg768Gly) n.239C>G c.217C>G (p.Arg73Gly) | |
2 | g.27232070C>T | CA346211436 | CAD | c.2491C>T (p.Arg831Cys) c.2302C>T (p.Arg768Cys) n.239C>T c.217C>T (p.Arg73Cys) | ClinVar dbSNP |
2 | g.27232071G>A | CA1573031 | CAD | c.2492G>A (p.Arg831His) c.2303G>A (p.Arg768His) n.240G>A c.218G>A (p.Arg73His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232071G>C | CA346211438 | CAD | c.2492G>C (p.Arg831Pro) c.2303G>C (p.Arg768Pro) n.240G>C c.218G>C (p.Arg73Pro) | |
2 | g.27232071G= | CA1240180277 | CAD | c.2492G= (p.Arg831=) c.2303G= (p.Arg768=) n.240G= c.218G= (p.Arg73=) | |
2 | g.27232071G>T | CA346211439 | CAD | c.2492G>T (p.Arg831Leu) c.2303G>T (p.Arg768Leu) n.240G>T c.218G>T (p.Arg73Leu) | |
2 | g.27232072C>A | CA425384847 | CAD | c.2493C>A (p.Arg831=) c.2304C>A (p.Arg768=) n.241C>A c.219C>A (p.Arg73=) | |
2 | g.27232072C>G | CA425384848 | CAD | c.2493C>G (p.Arg831=) c.2304C>G (p.Arg768=) n.241C>G c.219C>G (p.Arg73=) | |
2 | g.27232072C>T | CA425384849 | CAD | c.2493C>T (p.Arg831=) c.2304C>T (p.Arg768=) n.241C>T c.219C>T (p.Arg73=) | |
2 | g.27232073A= | CA1240180278 | CAD | c.2494A= (p.Ile832=) c.2305A= (p.Ile769=) n.242A= c.220A= (p.Ile74=) | |
2 | g.27232073A>C | CA346211444 | CAD | c.2494A>C (p.Ile832Leu) c.2305A>C (p.Ile769Leu) n.242A>C c.220A>C (p.Ile74Leu) | dbSNP gnomAD v4 |
2 | g.27232073A>G | CA346211441 | CAD | c.2494A>G (p.Ile832Val) c.2305A>G (p.Ile769Val) n.242A>G c.220A>G (p.Ile74Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27232073A>T | CA346211443 | CAD | c.2494A>T (p.Ile832Phe) c.2305A>T (p.Ile769Phe) n.242A>T c.220A>T (p.Ile74Phe) | |
2 | g.27232074T>A | CA346211446 | CAD | c.2495T>A (p.Ile832Asn) c.2306T>A (p.Ile769Asn) n.243T>A c.221T>A (p.Ile74Asn) | |
2 | g.27232074T>C | CA346211447 | CAD | c.2495T>C (p.Ile832Thr) c.2306T>C (p.Ile769Thr) n.243T>C c.221T>C (p.Ile74Thr) | |
2 | g.27232074T>G | CA346211448 | CAD | c.2495T>G (p.Ile832Ser) c.2306T>G (p.Ile769Ser) n.243T>G c.221T>G (p.Ile74Ser) | |
2 | g.27232075C>A | CA425384850 | CAD | c.2496C>A (p.Ile832=) c.2307C>A (p.Ile769=) n.244C>A c.222C>A (p.Ile74=) | |
2 | g.27232075C= | CA1240180279 | CAD | c.2496C= (p.Ile832=) c.2307C= (p.Ile769=) n.244C= c.222C= (p.Ile74=) | |
2 | g.27232075C>G | CA346211449 | CAD | c.2496C>G (p.Ile832Met) c.2307C>G (p.Ile769Met) n.244C>G c.222C>G (p.Ile74Met) | |
2 | g.27232075C>T | CA1573032 | CAD | c.2496C>T (p.Ile832=) c.2307C>T (p.Ile769=) n.244C>T c.222C>T (p.Ile74=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232076G>A | CA1573033 | CAD | c.2497G>A (p.Asp833Asn) c.2308G>A (p.Asp770Asn) n.245G>A c.223G>A (p.Asp75Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232076G>C | CA346211453 | CAD | c.2497G>C (p.Asp833His) c.2308G>C (p.Asp770His) n.245G>C c.223G>C (p.Asp75His) | |
2 | g.27232076G= | CA1240180280 | CAD | c.2497G= (p.Asp833=) c.2308G= (p.Asp770=) n.245G= c.223G= (p.Asp75=) | |
2 | g.27232076G>T | CA346211452 | CAD | c.2497G>T (p.Asp833Tyr) c.2308G>T (p.Asp770Tyr) n.245G>T c.223G>T (p.Asp75Tyr) | |
2 | g.27232077A>C | CA346211455 | CAD | c.2498A>C (p.Asp833Ala) c.2309A>C (p.Asp770Ala) n.246A>C c.224A>C (p.Asp75Ala) | |
2 | g.27232077A>G | CA346211457 | CAD | c.2498A>G (p.Asp833Gly) c.2309A>G (p.Asp770Gly) n.246A>G c.224A>G (p.Asp75Gly) | gnomAD v4 |
2 | g.27232077A>T | CA346211459 | CAD | c.2498A>T (p.Asp833Val) c.2309A>T (p.Asp770Val) n.246A>T c.224A>T (p.Asp75Val) | |
2 | g.27232077dup | CA2840594290 | CAD | c.2498dup (p.Asp833GlufsTer?) c.2309dup (p.Asp770GlufsTer?) n.246dup c.224dup (p.Asp75GlufsTer?) | |
2 | g.27232078C>A | CA346211461 | CAD | c.2499C>A (p.Asp833Glu) c.2310C>A (p.Asp770Glu) n.247C>A c.225C>A (p.Asp75Glu) | |
2 | g.27232078C>G | CA346211463 | CAD | c.2499C>G (p.Asp833Glu) c.2310C>G (p.Asp770Glu) n.247C>G c.225C>G (p.Asp75Glu) | |
2 | g.27232078C>T | CA425384851 | CAD | c.2499C>T (p.Asp833=) c.2310C>T (p.Asp770=) n.247C>T c.225C>T (p.Asp75=) | |
2 | g.27232079C>A | CA346211464 | CAD | c.2500C>A (p.Arg834Ser) c.2311C>A (p.Arg771Ser) n.248C>A c.226C>A (p.Arg76Ser) | |
2 | g.27232079C= | CA1240180281 | CAD | c.2500C= (p.Arg834=) c.2311C= (p.Arg771=) n.248C= c.226C= (p.Arg76=) | |
2 | g.27232079C>G | CA346211465 | CAD | c.2500C>G (p.Arg834Gly) c.2311C>G (p.Arg771Gly) n.248C>G c.226C>G (p.Arg76Gly) | |
2 | g.27232079C>T | CA1573034 | CAD | c.2500C>T (p.Arg834Cys) c.2311C>T (p.Arg771Cys) n.248C>T c.226C>T (p.Arg76Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232080G>A | CA1573035 | CAD | c.2501G>A (p.Arg834His) c.2312G>A (p.Arg771His) n.249G>A c.227G>A (p.Arg76His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232080G>C | CA346211469 | CAD | c.2501G>C (p.Arg834Pro) c.2312G>C (p.Arg771Pro) n.249G>C c.227G>C (p.Arg76Pro) | |
2 | g.27232080G= | CA1240180282 | CAD | c.2501G= (p.Arg834=) c.2312G= (p.Arg771=) n.249G= c.227G= (p.Arg76=) | |
2 | g.27232080G>T | CA346211470 | CAD | c.2501G>T (p.Arg834Leu) c.2312G>T (p.Arg771Leu) n.249G>T c.227G>T (p.Arg76Leu) | dbSNP gnomAD v4 COSMIC |
2 | g.27232081C>A | CA425384852 | CAD | c.2502C>A (p.Arg834=) c.2313C>A (p.Arg771=) n.250C>A c.228C>A (p.Arg76=) | |
2 | g.27232081C>G | CA425384853 | CAD | c.2502C>G (p.Arg834=) c.2313C>G (p.Arg771=) n.250C>G c.228C>G (p.Arg76=) | |
2 | g.27232081C>T | CA425384854 | CAD | c.2502C>T (p.Arg834=) c.2313C>T (p.Arg771=) n.250C>T c.228C>T (p.Arg76=) | |
2 | g.27232082T>A | CA346211472 | CAD | c.2503T>A (p.Trp835Arg) c.2314T>A (p.Trp772Arg) n.251T>A c.229T>A (p.Trp77Arg) | |
2 | g.27232082T>C | CA346211475 | CAD | c.2503T>C (p.Trp835Arg) c.2314T>C (p.Trp772Arg) n.251T>C c.229T>C (p.Trp77Arg) | |
2 | g.27232082T>G | CA346211474 | CAD | c.2503T>G (p.Trp835Gly) c.2314T>G (p.Trp772Gly) n.251T>G c.229T>G (p.Trp77Gly) | |
2 | g.27232082dup | CA2698928835 | CAD | c.2503dup (p.Trp835LeufsTer?) c.2314dup (p.Trp772LeufsTer?) n.251dup c.229dup (p.Trp77LeufsTer?) | dbSNP |
2 | g.27232083G>A | CA346211477 | CAD | c.2504G>A (p.Trp835Ter) c.2315G>A (p.Trp772Ter) n.252G>A c.230G>A (p.Trp77Ter) | |
2 | g.27232083G>C | CA346211480 | CAD | c.2504G>C (p.Trp835Ser) c.2315G>C (p.Trp772Ser) n.252G>C c.230G>C (p.Trp77Ser) | |
2 | g.27232083G>T | CA346211478 | CAD | c.2504G>T (p.Trp835Leu) c.2315G>T (p.Trp772Leu) n.252G>T c.230G>T (p.Trp77Leu) | |
2 | g.27232084G>A | CA346211482 | CAD | c.2505G>A (p.Trp835Ter) c.2316G>A (p.Trp772Ter) n.253G>A c.231G>A (p.Trp77Ter) | |
2 | g.27232084G>C | CA346211483 | CAD | c.2505G>C (p.Trp835Cys) c.2316G>C (p.Trp772Cys) n.253G>C c.231G>C (p.Trp77Cys) | |
2 | g.27232084G>T | CA346211485 | CAD | c.2505G>T (p.Trp835Cys) c.2316G>T (p.Trp772Cys) n.253G>T c.231G>T (p.Trp77Cys) | |
2 | g.27232085T>A | CA346211487 | CAD | c.2506T>A (p.Phe836Ile) c.2317T>A (p.Phe773Ile) n.254T>A c.232T>A (p.Phe78Ile) | |
2 | g.27232085T>C | CA346211489 | CAD | c.2506T>C (p.Phe836Leu) c.2317T>C (p.Phe773Leu) n.254T>C c.232T>C (p.Phe78Leu) | |
2 | g.27232085T>G | CA346211490 | CAD | c.2506T>G (p.Phe836Val) c.2317T>G (p.Phe773Val) n.254T>G c.232T>G (p.Phe78Val) | |
2 | g.27232086T>A | CA346211492 | CAD | c.2507T>A (p.Phe836Tyr) c.2318T>A (p.Phe773Tyr) n.255T>A c.233T>A (p.Phe78Tyr) | |
2 | g.27232086T>C | CA346211494 | CAD | c.2507T>C (p.Phe836Ser) c.2318T>C (p.Phe773Ser) n.255T>C c.233T>C (p.Phe78Ser) | |
2 | g.27232086T>G | CA346211496 | CAD | c.2507T>G (p.Phe836Cys) c.2318T>G (p.Phe773Cys) n.255T>G c.233T>G (p.Phe78Cys) | |
2 | g.27232087C>A | CA346211497 | CAD | c.2508C>A (p.Phe836Leu) c.2319C>A (p.Phe773Leu) n.256C>A c.234C>A (p.Phe78Leu) | |
2 | g.27232087C= | CA1240180283 | CAD | c.2508C= (p.Phe836=) c.2319C= (p.Phe773=) n.256C= c.234C= (p.Phe78=) | |
2 | g.27232087C>G | CA346211498 | CAD | c.2508C>G (p.Phe836Leu) c.2319C>G (p.Phe773Leu) n.256C>G c.234C>G (p.Phe78Leu) | dbSNP |
2 | g.27232087C>T | CA425384855 | CAD | c.2508C>T (p.Phe836=) c.2319C>T (p.Phe773=) n.256C>T c.234C>T (p.Phe78=) | ClinVar |
2 | g.27232088C>A | CA346211500 | CAD | c.2509C>A (p.Leu837Met) c.2320C>A (p.Leu774Met) n.257C>A c.235C>A (p.Leu79Met) | |
2 | g.27232088C= | CA1240180284 | CAD | c.2509C= (p.Leu837=) c.2320C= (p.Leu774=) n.257C= c.235C= (p.Leu79=) | |
2 | g.27232088C>G | CA346211502 | CAD | c.2509C>G (p.Leu837Val) c.2320C>G (p.Leu774Val) n.257C>G c.235C>G (p.Leu79Val) | ClinVar |
2 | g.27232088C>T | CA44507174 | CAD | c.2509C>T (p.Leu837=) c.2320C>T (p.Leu774=) n.257C>T c.235C>T (p.Leu79=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.27232089T>A | CA346211503 | CAD | c.2510T>A (p.Leu837Gln) c.2321T>A (p.Leu774Gln) n.258T>A c.236T>A (p.Leu79Gln) | |
2 | g.27232089T>C | CA346211505 | CAD | c.2510T>C (p.Leu837Pro) c.2321T>C (p.Leu774Pro) n.258T>C c.236T>C (p.Leu79Pro) | |
2 | g.27232089T>G | CA346211504 | CAD | c.2510T>G (p.Leu837Arg) c.2321T>G (p.Leu774Arg) n.258T>G c.236T>G (p.Leu79Arg) | |
2 | g.27232090G>A | CA425384856 | CAD | c.2511G>A (p.Leu837=) c.2322G>A (p.Leu774=) n.259G>A c.237G>A (p.Leu79=) | dbSNP |
2 | g.27232090G>C | CA425384858 | CAD | c.2511G>C (p.Leu837=) c.2322G>C (p.Leu774=) n.259G>C c.237G>C (p.Leu79=) | gnomAD v4 |
2 | g.27232090G= | CA1240180285 | CAD | c.2511G= (p.Leu837=) c.2322G= (p.Leu774=) n.259G= c.237G= (p.Leu79=) | |
2 | g.27232090G>T | CA425384857 | CAD | c.2511G>T (p.Leu837=) c.2322G>T (p.Leu774=) n.259G>T c.237G>T (p.Leu79=) | |
2 | g.27232091C>A | CA346211507 | CAD | c.2512C>A (p.His838Asn) c.2323C>A (p.His775Asn) n.260C>A c.238C>A (p.His80Asn) | |
2 | g.27232091C>G | CA346211508 | CAD | c.2512C>G (p.His838Asp) c.2323C>G (p.His775Asp) n.260C>G c.238C>G (p.His80Asp) | |
2 | g.27232091C>T | CA346211510 | CAD | c.2512C>T (p.His838Tyr) c.2323C>T (p.His775Tyr) n.260C>T c.238C>T (p.His80Tyr) | |
2 | g.27232092A= | CA1240180286 | CAD | c.2513A= (p.His838=) c.2324A= (p.His775=) n.261A= c.239A= (p.His80=) | |
2 | g.27232092A>C | CA346211512 | CAD | c.2513A>C (p.His838Pro) c.2324A>C (p.His775Pro) n.261A>C c.239A>C (p.His80Pro) | |
2 | g.27232092A>G | CA346211513 | CAD | c.2513A>G (p.His838Arg) c.2324A>G (p.His775Arg) n.261A>G c.239A>G (p.His80Arg) | dbSNP |
2 | g.27232092A>T | CA346211515 | CAD | c.2513A>T (p.His838Leu) c.2324A>T (p.His775Leu) n.261A>T c.239A>T (p.His80Leu) | |
2 | g.27232093C>A | CA346211516 | CAD | c.2514C>A (p.His838Gln) c.2325C>A (p.His775Gln) n.262C>A c.240C>A (p.His80Gln) | |
2 | g.27232093C>G | CA346211517 | CAD | c.2514C>G (p.His838Gln) c.2325C>G (p.His775Gln) n.262C>G c.240C>G (p.His80Gln) | |
2 | g.27232093C>T | CA425384859 | CAD | c.2514C>T (p.His838=) c.2325C>T (p.His775=) n.262C>T c.240C>T (p.His80=) | |
2 | g.27232094C>A | CA425384860 | CAD | c.2515C>A (p.Arg839=) c.2326C>A (p.Arg776=) n.263C>A c.241C>A (p.Arg81=) | |
2 | g.27232094C= | CA1240180287 | CAD | c.2515C= (p.Arg839=) c.2326C= (p.Arg776=) n.263C= c.241C= (p.Arg81=) | |
2 | g.27232094C>G | CA346211519 | CAD | c.2515C>G (p.Arg839Gly) c.2326C>G (p.Arg776Gly) n.263C>G c.241C>G (p.Arg81Gly) | dbSNP |
2 | g.27232094C>T | CA1573036 | CAD | c.2515C>T (p.Arg839Ter) c.2326C>T (p.Arg776Ter) n.263C>T c.241C>T (p.Arg81Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.27232095G>A | CA1573037 | CAD | c.2516G>A (p.Arg839Gln) c.2327G>A (p.Arg776Gln) n.264G>A c.242G>A (p.Arg81Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232095G>C | CA346211522 | CAD | c.2516G>C (p.Arg839Pro) c.2327G>C (p.Arg776Pro) n.264G>C c.242G>C (p.Arg81Pro) | |
2 | g.27232095G= | CA1240180288 | CAD | c.2516G= (p.Arg839=) c.2327G= (p.Arg776=) n.264G= c.242G= (p.Arg81=) | |
2 | g.27232095G>T | CA346211520 | CAD | c.2516G>T (p.Arg839Leu) c.2327G>T (p.Arg776Leu) n.264G>T c.242G>T (p.Arg81Leu) | |
2 | g.27232096A>C | CA425384861 | CAD | c.2517A>C (p.Arg839=) c.2328A>C (p.Arg776=) n.265A>C c.243A>C (p.Arg81=) | |
2 | g.27232096A>G | CA425384863 | CAD | c.2517A>G (p.Arg839=) c.2328A>G (p.Arg776=) n.265A>G c.243A>G (p.Arg81=) | |
2 | g.27232096A>T | CA425384862 | CAD | c.2517A>T (p.Arg839=) c.2328A>T (p.Arg776=) n.265A>T c.243A>T (p.Arg81=) | |
2 | g.27232097A>C | CA346211527 | CAD | c.2518A>C (p.Met840Leu) c.2329A>C (p.Met777Leu) n.266A>C c.244A>C (p.Met82Leu) | |
2 | g.27232097A>G | CA346211525 | CAD | c.2518A>G (p.Met840Val) c.2329A>G (p.Met777Val) n.266A>G c.244A>G (p.Met82Val) | gnomAD v4 |
2 | g.27232097A>T | CA346211526 | CAD | c.2518A>T (p.Met840Leu) c.2329A>T (p.Met777Leu) n.266A>T c.244A>T (p.Met82Leu) | |
2 | g.27232098T>A | CA346211530 | CAD | c.2519T>A (p.Met840Lys) c.2330T>A (p.Met777Lys) n.267T>A c.245T>A (p.Met82Lys) | |
2 | g.27232098T>C | CA346211531 | CAD | c.2519T>C (p.Met840Thr) c.2330T>C (p.Met777Thr) n.267T>C c.245T>C (p.Met82Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232098T>G | CA346211533 | CAD | c.2519T>G (p.Met840Arg) c.2330T>G (p.Met777Arg) n.267T>G c.245T>G (p.Met82Arg) | |
2 | g.27232098T= | CA1240180289 | CAD | c.2519T= (p.Met840=) c.2330T= (p.Met777=) n.267T= c.245T= (p.Met82=) | |
2 | g.27232099G>A | CA346211537 | CAD | c.2520G>A (p.Met840Ile) c.2331G>A (p.Met777Ile) n.268G>A c.246G>A (p.Met82Ile) | gnomAD v4 |
2 | g.27232099G>C | CA346211539 | CAD | c.2520G>C (p.Met840Ile) c.2331G>C (p.Met777Ile) n.268G>C c.246G>C (p.Met82Ile) | |
2 | g.27232099G>T | CA346211540 | CAD | c.2520G>T (p.Met840Ile) c.2331G>T (p.Met777Ile) n.268G>T c.246G>T (p.Met82Ile) | |
2 | g.27232100A>C | CA346211542 | CAD | c.2521A>C (p.Lys841Gln) c.2332A>C (p.Lys778Gln) n.269A>C c.247A>C (p.Lys83Gln) | |
2 | g.27232100A>G | CA346211544 | CAD | c.2521A>G (p.Lys841Glu) c.2332A>G (p.Lys778Glu) n.269A>G c.247A>G (p.Lys83Glu) | |
2 | g.27232100A>T | CA346211545 | CAD | c.2521A>T (p.Lys841Ter) c.2332A>T (p.Lys778Ter) n.269A>T c.247A>T (p.Lys83Ter) | |
2 | g.27232101A= | CA1240180290 | CAD | c.2522A= (p.Lys841=) c.2333A= (p.Lys778=) n.270A= c.248A= (p.Lys83=) | |
2 | g.27232101A>C | CA346211547 | CAD | c.2522A>C (p.Lys841Thr) c.2333A>C (p.Lys778Thr) n.270A>C c.248A>C (p.Lys83Thr) | |
2 | g.27232101A>G | CA44507179 | CAD | c.2522A>G (p.Lys841Arg) c.2333A>G (p.Lys778Arg) n.270A>G c.248A>G (p.Lys83Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232101A>T | CA346211550 | CAD | c.2522A>T (p.Lys841Met) c.2333A>T (p.Lys778Met) n.270A>T c.248A>T (p.Lys83Met) |