Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27231999A>CCA346211191CADc.2420A>C (p.Asp807Ala)
c.2231A>C (p.Asp744Ala)
n.168A>C
c.146A>C (p.Asp49Ala)
2g.27231999A>GCA346211192CADc.2420A>G (p.Asp807Gly)
c.2231A>G (p.Asp744Gly)
n.168A>G
c.146A>G (p.Asp49Gly)
2g.27231999A>TCA346211194CADc.2420A>T (p.Asp807Val)
c.2231A>T (p.Asp744Val)
n.168A>T
c.146A>T (p.Asp49Val)
2g.27232000T>ACA346211195CADc.2421T>A (p.Asp807Glu)
c.2232T>A (p.Asp744Glu)
n.169T>A
c.147T>A (p.Asp49Glu)
2g.27232000T>CCA425384792CADc.2421T>C (p.Asp807=)
c.2232T>C (p.Asp744=)
n.169T>C
c.147T>C (p.Asp49=)
2g.27232000T>GCA346211197CADc.2421T>G (p.Asp807Glu)
c.2232T>G (p.Asp744Glu)
n.169T>G
c.147T>G (p.Asp49Glu)
2g.27232001A>CCA346211199CADc.2422A>C (p.Lys808Gln)
c.2233A>C (p.Lys745Gln)
n.170A>C
c.148A>C (p.Lys50Gln)
2g.27232001A>GCA346211200CADc.2422A>G (p.Lys808Glu)
c.2233A>G (p.Lys745Glu)
n.170A>G
c.148A>G (p.Lys50Glu)
2g.27232001A>TCA346211201CADc.2422A>T (p.Lys808Ter)
c.2233A>T (p.Lys745Ter)
n.170A>T
c.148A>T (p.Lys50Ter)
2g.27232002A=CA1240180256CADc.2423A= (p.Lys808=)
c.2234A= (p.Lys745=)
n.171A=
c.149A= (p.Lys50=)
2g.27232002A>CCA346211203CADc.2423A>C (p.Lys808Thr)
c.2234A>C (p.Lys745Thr)
n.171A>C
c.149A>C (p.Lys50Thr)
2g.27232002A>GCA346211205CADc.2423A>G (p.Lys808Arg)
c.2234A>G (p.Lys745Arg)
n.171A>G
c.149A>G (p.Lys50Arg)
 dbSNP
2g.27232002A>TCA346211207CADc.2423A>T (p.Lys808Met)
c.2234A>T (p.Lys745Met)
n.171A>T
c.149A>T (p.Lys50Met)
2g.27232003G>ACA425384793CADc.2424G>A (p.Lys808=)
c.2235G>A (p.Lys745=)
n.172G>A
c.150G>A (p.Lys50=)
2g.27232003G>CCA346211209CADc.2424G>C (p.Lys808Asn)
c.2235G>C (p.Lys745Asn)
n.172G>C
c.150G>C (p.Lys50Asn)
2g.27232003G>TCA346211208CADc.2424G>T (p.Lys808Asn)
c.2235G>T (p.Lys745Asn)
n.172G>T
c.150G>T (p.Lys50Asn)
2g.27232004C>ACA425384794CADc.2425C>A (p.Arg809=)
c.2236C>A (p.Arg746=)
n.173C>A
c.151C>A (p.Arg51=)
 dbSNP
2g.27232004C=CA1240180257CADc.2425C= (p.Arg809=)
c.2236C= (p.Arg746=)
n.173C=
c.151C= (p.Arg51=)
2g.27232004C>GCA346211211CADc.2425C>G (p.Arg809Gly)
c.2236C>G (p.Arg746Gly)
n.173C>G
c.151C>G (p.Arg51Gly)
2g.27232004C>TCA346211213CADc.2425C>T (p.Arg809Trp)
c.2236C>T (p.Arg746Trp)
n.173C>T
c.151C>T (p.Arg51Trp)
 dbSNP gnomAD v2 gnomAD v4
2g.27232005G>ACA346211214CADc.2426G>A (p.Arg809Gln)
c.2237G>A (p.Arg746Gln)
n.174G>A
c.152G>A (p.Arg51Gln)
 ClinVar
2g.27232005G>CCA346211216CADc.2426G>C (p.Arg809Pro)
c.2237G>C (p.Arg746Pro)
n.174G>C
c.152G>C (p.Arg51Pro)
2g.27232005G>TCA346211217CADc.2426G>T (p.Arg809Leu)
c.2237G>T (p.Arg746Leu)
n.174G>T
c.152G>T (p.Arg51Leu)
2g.27232006delCA913090381CADc.2427del (p.Ile810PhefsTer?)
c.2238del (p.Ile747PhefsTer?)
n.175del
c.153del (p.Ile52PhefsTer?)
2g.27232006G>ACA425384795CADc.2427G>A (p.Arg809=)
c.2238G>A (p.Arg746=)
n.175G>A
c.153G>A (p.Arg51=)
2g.27232006G>CCA425384796CADc.2427G>C (p.Arg809=)
c.2238G>C (p.Arg746=)
n.175G>C
c.153G>C (p.Arg51=)
2g.27232006G>TCA425384797CADc.2427G>T (p.Arg809=)
c.2238G>T (p.Arg746=)
n.175G>T
c.153G>T (p.Arg51=)
2g.27232007A>CCA346211218CADc.2428A>C (p.Ile810Leu)
c.2239A>C (p.Ile747Leu)
n.176A>C
c.154A>C (p.Ile52Leu)
2g.27232007A>GCA346211220CADc.2428A>G (p.Ile810Val)
c.2239A>G (p.Ile747Val)
n.176A>G
c.154A>G (p.Ile52Val)
 gnomAD v4
2g.27232007A>TCA346211221CADc.2428A>T (p.Ile810Phe)
c.2239A>T (p.Ile747Phe)
n.176A>T
c.154A>T (p.Ile52Phe)
2g.27232008T>ACA346211223CADc.2429T>A (p.Ile810Asn)
c.2240T>A (p.Ile747Asn)
n.177T>A
c.155T>A (p.Ile52Asn)
2g.27232008T>CCA346211225CADc.2429T>C (p.Ile810Thr)
c.2240T>C (p.Ile747Thr)
n.177T>C
c.155T>C (p.Ile52Thr)
2g.27232008T>GCA346211226CADc.2429T>G (p.Ile810Ser)
c.2240T>G (p.Ile747Ser)
n.177T>G
c.155T>G (p.Ile52Ser)
2g.27232009T>ACA425384798CADc.2430T>A (p.Ile810=)
c.2241T>A (p.Ile747=)
n.178T>A
c.156T>A (p.Ile52=)
2g.27232009T>CCA425384799CADc.2430T>C (p.Ile810=)
c.2241T>C (p.Ile747=)
n.178T>C
c.156T>C (p.Ile52=)
2g.27232009T>GCA346211228CADc.2430T>G (p.Ile810Met)
c.2241T>G (p.Ile747Met)
n.178T>G
c.156T>G (p.Ile52Met)
2g.27232010T>ACA346211231CADc.2431T>A (p.Phe811Ile)
c.2242T>A (p.Phe748Ile)
n.179T>A
c.157T>A (p.Phe53Ile)
2g.27232010T>CCA346211232CADc.2431T>C (p.Phe811Leu)
c.2242T>C (p.Phe748Leu)
n.179T>C
c.157T>C (p.Phe53Leu)
2g.27232010T>GCA346211230CADc.2431T>G (p.Phe811Val)
c.2242T>G (p.Phe748Val)
n.179T>G
c.157T>G (p.Phe53Val)
2g.27232011T>ACA346211233CADc.2432T>A (p.Phe811Tyr)
c.2243T>A (p.Phe748Tyr)
n.180T>A
c.158T>A (p.Phe53Tyr)
2g.27232011T>CCA346211234CADc.2432T>C (p.Phe811Ser)
c.2243T>C (p.Phe748Ser)
n.180T>C
c.158T>C (p.Phe53Ser)
2g.27232011T>GCA346211235CADc.2432T>G (p.Phe811Cys)
c.2243T>G (p.Phe748Cys)
n.180T>G
c.158T>G (p.Phe53Cys)
2g.27232012T>ACA346211236CADc.2433T>A (p.Phe811Leu)
c.2244T>A (p.Phe748Leu)
n.181T>A
c.159T>A (p.Phe53Leu)
2g.27232012T>CCA425384800CADc.2433T>C (p.Phe811=)
c.2244T>C (p.Phe748=)
n.181T>C
c.159T>C (p.Phe53=)
2g.27232012T>GCA1573024CADc.2433T>G (p.Phe811Leu)
c.2244T>G (p.Phe748Leu)
n.181T>G
c.159T>G (p.Phe53Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232012T=CA1240180258CADc.2433T= (p.Phe811=)
c.2244T= (p.Phe748=)
n.181T=
c.159T= (p.Phe53=)
2g.27232013G>ACA346211241CADc.2434G>A (p.Val812Met)
c.2245G>A (p.Val749Met)
n.182G>A
c.160G>A (p.Val54Met)
 gnomAD v4
2g.27232013G>CCA346211240CADc.2434G>C (p.Val812Leu)
c.2245G>C (p.Val749Leu)
n.182G>C
c.160G>C (p.Val54Leu)
2g.27232013G>TCA346211238CADc.2434G>T (p.Val812Leu)
c.2245G>T (p.Val749Leu)
n.182G>T
c.160G>T (p.Val54Leu)
2g.27232014T>ACA346211243CADc.2435T>A (p.Val812Glu)
c.2246T>A (p.Val749Glu)
n.183T>A
c.161T>A (p.Val54Glu)
2g.27232014T>CCA1573025CADc.2435T>C (p.Val812Ala)
c.2246T>C (p.Val749Ala)
n.183T>C
c.161T>C (p.Val54Ala)
 dbSNP ExAC gnomAD v4
2g.27232014T>GCA346211245CADc.2435T>G (p.Val812Gly)
c.2246T>G (p.Val749Gly)
n.183T>G
c.161T>G (p.Val54Gly)
2g.27232014T=CA1240180259CADc.2435T= (p.Val812=)
c.2246T= (p.Val749=)
n.183T=
c.161T= (p.Val54=)
2g.27232015G>ACA425384803CADc.2436G>A (p.Val812=)
c.2247G>A (p.Val749=)
n.184G>A
c.162G>A (p.Val54=)
2g.27232015G>CCA425384802CADc.2436G>C (p.Val812=)
c.2247G>C (p.Val749=)
n.184G>C
c.162G>C (p.Val54=)
2g.27232015G>TCA425384801CADc.2436G>T (p.Val812=)
c.2247G>T (p.Val749=)
n.184G>T
c.162G>T (p.Val54=)
 gnomAD v4
2g.27232016G>ACA346211247CADc.2437G>A (p.Val813Met)
c.2248G>A (p.Val750Met)
n.185G>A
c.163G>A (p.Val55Met)
 dbSNP gnomAD v2 gnomAD v4
2g.27232016G>CCA346211248CADc.2437G>C (p.Val813Leu)
c.2248G>C (p.Val750Leu)
n.185G>C
c.163G>C (p.Val55Leu)
2g.27232016G=CA1240180260CADc.2437G= (p.Val813=)
c.2248G= (p.Val750=)
n.185G=
c.163G= (p.Val55=)
2g.27232016G>TCA346211249CADc.2437G>T (p.Val813Leu)
c.2248G>T (p.Val750Leu)
n.185G>T
c.163G>T (p.Val55Leu)
 gnomAD v4
2g.27232017T>ACA346211251CADc.2438T>A (p.Val813Glu)
c.2249T>A (p.Val750Glu)
n.186T>A
c.164T>A (p.Val55Glu)
2g.27232017T>CCA346211255CADc.2438T>C (p.Val813Ala)
c.2249T>C (p.Val750Ala)
n.186T>C
c.164T>C (p.Val55Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.27232017T>GCA346211253CADc.2438T>G (p.Val813Gly)
c.2249T>G (p.Val750Gly)
n.186T>G
c.164T>G (p.Val55Gly)
2g.27232017T=CA1240180261CADc.2438T= (p.Val813=)
c.2249T= (p.Val750=)
n.186T=
c.164T= (p.Val55=)
2g.27232018G>ACA425384806CADc.2439G>A (p.Val813=)
c.2250G>A (p.Val750=)
n.187G>A
c.165G>A (p.Val55=)
 gnomAD v4
2g.27232018G>CCA425384805CADc.2439G>C (p.Val813=)
c.2250G>C (p.Val750=)
n.187G>C
c.165G>C (p.Val55=)
2g.27232018G>TCA425384804CADc.2439G>T (p.Val813=)
c.2250G>T (p.Val750=)
n.187G>T
c.165G>T (p.Val55=)
 COSMIC
2g.27232019G>ACA346211256CADc.2440G>A (p.Ala814Thr)
c.2251G>A (p.Ala751Thr)
n.188G>A
c.166G>A (p.Ala56Thr)
2g.27232019G>CCA346211257CADc.2440G>C (p.Ala814Pro)
c.2251G>C (p.Ala751Pro)
n.188G>C
c.166G>C (p.Ala56Pro)
2g.27232019G>TCA346211258CADc.2440G>T (p.Ala814Ser)
c.2251G>T (p.Ala751Ser)
n.188G>T
c.166G>T (p.Ala56Ser)
 gnomAD v4
2g.27232020C>ACA346211261CADc.2441C>A (p.Ala814Glu)
c.2252C>A (p.Ala751Glu)
n.189C>A
c.167C>A (p.Ala56Glu)
2g.27232020C>GCA346211263CADc.2441C>G (p.Ala814Gly)
c.2252C>G (p.Ala751Gly)
n.189C>G
c.167C>G (p.Ala56Gly)
2g.27232020C>TCA346211264CADc.2441C>T (p.Ala814Val)
c.2252C>T (p.Ala751Val)
n.189C>T
c.167C>T (p.Ala56Val)
2g.27232021A>CCA425384807CADc.2442A>C (p.Ala814=)
c.2253A>C (p.Ala751=)
n.190A>C
c.168A>C (p.Ala56=)
2g.27232021A>GCA425384809CADc.2442A>G (p.Ala814=)
c.2253A>G (p.Ala751=)
n.190A>G
c.168A>G (p.Ala56=)
2g.27232021A>TCA425384808CADc.2442A>T (p.Ala814=)
c.2253A>T (p.Ala751=)
n.190A>T
c.168A>T (p.Ala56=)
2g.27232022G>ACA346211266CADc.2443G>A (p.Ala815Thr)
c.2254G>A (p.Ala752Thr)
n.191G>A
c.169G>A (p.Ala57Thr)
2g.27232022G>CCA346211268CADc.2443G>C (p.Ala815Pro)
c.2254G>C (p.Ala752Pro)
n.191G>C
c.169G>C (p.Ala57Pro)
2g.27232022G>TCA346211270CADc.2443G>T (p.Ala815Ser)
c.2254G>T (p.Ala752Ser)
n.191G>T
c.169G>T (p.Ala57Ser)
2g.27232023C>ACA346211271CADc.2444C>A (p.Ala815Asp)
c.2255C>A (p.Ala752Asp)
n.192C>A
c.170C>A (p.Ala57Asp)
2g.27232023C=CA1240180262CADc.2444C= (p.Ala815=)
c.2255C= (p.Ala752=)
n.192C=
c.170C= (p.Ala57=)
2g.27232023C>GCA346211273CADc.2444C>G (p.Ala815Gly)
c.2255C>G (p.Ala752Gly)
n.192C>G
c.170C>G (p.Ala57Gly)
2g.27232023C>TCA1573026CADc.2444C>T (p.Ala815Val)
c.2255C>T (p.Ala752Val)
n.192C>T
c.170C>T (p.Ala57Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232024T>ACA425384810CADc.2445T>A (p.Ala815=)
c.2256T>A (p.Ala752=)
n.193T>A
c.171T>A (p.Ala57=)
2g.27232024T>CCA425384811CADc.2445T>C (p.Ala815=)
c.2256T>C (p.Ala752=)
n.193T>C
c.171T>C (p.Ala57=)
2g.27232024T>GCA425384812CADc.2445T>G (p.Ala815=)
c.2256T>G (p.Ala752=)
n.193T>G
c.171T>G (p.Ala57=)
2g.27232025G>ACA346211275CADc.2446G>A (p.Ala816Thr)
c.2257G>A (p.Ala753Thr)
n.194G>A
c.172G>A (p.Ala58Thr)
2g.27232025G>CCA346211278CADc.2446G>C (p.Ala816Pro)
c.2257G>C (p.Ala753Pro)
n.194G>C
c.172G>C (p.Ala58Pro)
2g.27232025G>TCA346211277CADc.2446G>T (p.Ala816Ser)
c.2257G>T (p.Ala753Ser)
n.194G>T
c.172G>T (p.Ala58Ser)
2g.27232026C>ACA346211280CADc.2447C>A (p.Ala816Asp)
c.2258C>A (p.Ala753Asp)
n.195C>A
c.173C>A (p.Ala58Asp)
 gnomAD v4
2g.27232026C>GCA346211282CADc.2447C>G (p.Ala816Gly)
c.2258C>G (p.Ala753Gly)
n.195C>G
c.173C>G (p.Ala58Gly)
2g.27232026C>TCA346211284CADc.2447C>T (p.Ala816Val)
c.2258C>T (p.Ala753Val)
n.195C>T
c.173C>T (p.Ala58Val)
 gnomAD v4
2g.27232027T>ACA425384813CADc.2448T>A (p.Ala816=)
c.2259T>A (p.Ala753=)
n.196T>A
c.174T>A (p.Ala58=)
2g.27232027T>CCA425384814CADc.2448T>C (p.Ala816=)
c.2259T>C (p.Ala753=)
n.196T>C
c.174T>C (p.Ala58=)
2g.27232027T>GCA425384815CADc.2448T>G (p.Ala816=)
c.2259T>G (p.Ala753=)
n.196T>G
c.174T>G (p.Ala58=)
2g.27232028T>ACA346211285CADc.2449T>A (p.Leu817Met)
c.2260T>A (p.Leu754Met)
n.197T>A
c.175T>A (p.Leu59Met)
2g.27232028T>CCA425384816CADc.2449T>C (p.Leu817=)
c.2260T>C (p.Leu754=)
n.197T>C
c.175T>C (p.Leu59=)
2g.27232028T>GCA346211286CADc.2449T>G (p.Leu817Val)
c.2260T>G (p.Leu754Val)
n.197T>G
c.175T>G (p.Leu59Val)
2g.27232029T>ACA346211288CADc.2450T>A (p.Leu817Ter)
c.2261T>A (p.Leu754Ter)
n.198T>A
c.176T>A (p.Leu59Ter)
2g.27232029T>CCA346211290CADc.2450T>C (p.Leu817Ser)
c.2261T>C (p.Leu754Ser)
n.198T>C
c.176T>C (p.Leu59Ser)
2g.27232029T>GCA346211291CADc.2450T>G (p.Leu817Trp)
c.2261T>G (p.Leu754Trp)
n.198T>G
c.176T>G (p.Leu59Trp)
2g.27232030G>ACA425384817CADc.2451G>A (p.Leu817=)
c.2262G>A (p.Leu754=)
n.199G>A
c.177G>A (p.Leu59=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27232030G>CCA346211293CADc.2451G>C (p.Leu817Phe)
c.2262G>C (p.Leu754Phe)
n.199G>C
c.177G>C (p.Leu59Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.27232030G=CA1240180263CADc.2451G= (p.Leu817=)
c.2262G= (p.Leu754=)
n.199G=
c.177G= (p.Leu59=)
2g.27232030G>TCA346211294CADc.2451G>T (p.Leu817Phe)
c.2262G>T (p.Leu754Phe)
n.199G>T
c.177G>T (p.Leu59Phe)
2g.27232031T>ACA346211296CADc.2452T>A (p.Trp818Arg)
c.2263T>A (p.Trp755Arg)
n.200T>A
c.178T>A (p.Trp60Arg)
2g.27232031T>CCA346211298CADc.2452T>C (p.Trp818Arg)
c.2263T>C (p.Trp755Arg)
n.200T>C
c.178T>C (p.Trp60Arg)
2g.27232031T>GCA346211300CADc.2452T>G (p.Trp818Gly)
c.2263T>G (p.Trp755Gly)
n.200T>G
c.178T>G (p.Trp60Gly)
2g.27232032G>ACA346211301CADc.2453G>A (p.Trp818Ter)
c.2264G>A (p.Trp755Ter)
n.201G>A
c.179G>A (p.Trp60Ter)
 ClinVar
2g.27232032G>CCA346211303CADc.2453G>C (p.Trp818Ser)
c.2264G>C (p.Trp755Ser)
n.201G>C
c.179G>C (p.Trp60Ser)
2g.27232032G>TCA346211306CADc.2453G>T (p.Trp818Leu)
c.2264G>T (p.Trp755Leu)
n.201G>T
c.179G>T (p.Trp60Leu)
 gnomAD v4
2g.27232033G>ACA346211307CADc.2454G>A (p.Trp818Ter)
c.2265G>A (p.Trp755Ter)
n.202G>A
c.180G>A (p.Trp60Ter)
2g.27232033G>CCA346211311CADc.2454G>C (p.Trp818Cys)
c.2265G>C (p.Trp755Cys)
n.202G>C
c.180G>C (p.Trp60Cys)
2g.27232033G>TCA346211309CADc.2454G>T (p.Trp818Cys)
c.2265G>T (p.Trp755Cys)
n.202G>T
c.180G>T (p.Trp60Cys)
2g.27232034G>ACA346211312CADc.2455G>A (p.Ala819Thr)
c.2266G>A (p.Ala756Thr)
n.203G>A
c.181G>A (p.Ala61Thr)
2g.27232034G>CCA346211314CADc.2455G>C (p.Ala819Pro)
c.2266G>C (p.Ala756Pro)
n.203G>C
c.181G>C (p.Ala61Pro)
 COSMIC
2g.27232034G>TCA346211315CADc.2455G>T (p.Ala819Ser)
c.2266G>T (p.Ala756Ser)
n.203G>T
c.181G>T (p.Ala61Ser)
2g.27232035C>ACA346211317CADc.2456C>A (p.Ala819Asp)
c.2267C>A (p.Ala756Asp)
n.204C>A
c.182C>A (p.Ala61Asp)
2g.27232035C>GCA346211319CADc.2456C>G (p.Ala819Gly)
c.2267C>G (p.Ala756Gly)
n.204C>G
c.182C>G (p.Ala61Gly)
2g.27232035C>TCA346211320CADc.2456C>T (p.Ala819Val)
c.2267C>T (p.Ala756Val)
n.204C>T
c.182C>T (p.Ala61Val)
2g.27232036T>ACA425384818CADc.2457T>A (p.Ala819=)
c.2268T>A (p.Ala756=)
n.205T>A
c.183T>A (p.Ala61=)
2g.27232036T>CCA425384819CADc.2457T>C (p.Ala819=)
c.2268T>C (p.Ala756=)
n.205T>C
c.183T>C (p.Ala61=)
 ClinVar gnomAD v4
2g.27232036T>GCA425384820CADc.2457T>G (p.Ala819=)
c.2268T>G (p.Ala756=)
n.205T>G
c.183T>G (p.Ala61=)
 dbSNP gnomAD v3 gnomAD v4
2g.27232036T=CA1240180264CADc.2457T= (p.Ala819=)
c.2268T= (p.Ala756=)
n.205T=
c.183T= (p.Ala61=)
2g.27232037G>ACA346211322CADc.2458G>A (p.Gly820Ser)
c.2269G>A (p.Gly757Ser)
n.206G>A
c.184G>A (p.Gly62Ser)
2g.27232037G>CCA346211324CADc.2458G>C (p.Gly820Arg)
c.2269G>C (p.Gly757Arg)
n.206G>C
c.184G>C (p.Gly62Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.27232037G=CA1240180265CADc.2458G= (p.Gly820=)
c.2269G= (p.Gly757=)
n.206G=
c.184G= (p.Gly62=)
2g.27232037G>TCA346211325CADc.2458G>T (p.Gly820Cys)
c.2269G>T (p.Gly757Cys)
n.206G>T
c.184G>T (p.Gly62Cys)
 COSMIC
2g.27232038G>ACA346211326CADc.2459G>A (p.Gly820Asp)
c.2270G>A (p.Gly757Asp)
n.207G>A
c.185G>A (p.Gly62Asp)
 gnomAD v4
2g.27232038G>CCA346211327CADc.2459G>C (p.Gly820Ala)
c.2270G>C (p.Gly757Ala)
n.207G>C
c.185G>C (p.Gly62Ala)
 gnomAD v4
2g.27232038G>TCA346211328CADc.2459G>T (p.Gly820Val)
c.2270G>T (p.Gly757Val)
n.207G>T
c.185G>T (p.Gly62Val)
2g.27232039T>ACA425384821CADc.2460T>A (p.Gly820=)
c.2271T>A (p.Gly757=)
n.208T>A
c.186T>A (p.Gly62=)
2g.27232039T>CCA425384822CADc.2460T>C (p.Gly820=)
c.2271T>C (p.Gly757=)
n.208T>C
c.186T>C (p.Gly62=)
2g.27232039T>GCA425384823CADc.2460T>G (p.Gly820=)
c.2271T>G (p.Gly757=)
n.208T>G
c.186T>G (p.Gly62=)
2g.27232040T>ACA346211329CADc.2461T>A (p.Tyr821Asn)
c.2272T>A (p.Tyr758Asn)
n.209T>A
c.187T>A (p.Tyr63Asn)
2g.27232040T>CCA346211331CADc.2461T>C (p.Tyr821His)
c.2272T>C (p.Tyr758His)
n.209T>C
c.187T>C (p.Tyr63His)
2g.27232040T>GCA346211330CADc.2461T>G (p.Tyr821Asp)
c.2272T>G (p.Tyr758Asp)
n.209T>G
c.187T>G (p.Tyr63Asp)
 COSMIC
2g.27232041A>CCA346211332CADc.2462A>C (p.Tyr821Ser)
c.2273A>C (p.Tyr758Ser)
n.210A>C
c.188A>C (p.Tyr63Ser)
2g.27232041A>GCA346211333CADc.2462A>G (p.Tyr821Cys)
c.2273A>G (p.Tyr758Cys)
n.210A>G
c.188A>G (p.Tyr63Cys)
2g.27232041A>TCA346211334CADc.2462A>T (p.Tyr821Phe)
c.2273A>T (p.Tyr758Phe)
n.210A>T
c.188A>T (p.Tyr63Phe)
 gnomAD v4
2g.27232042T>ACA346211335CADc.2463T>A (p.Tyr821Ter)
c.2274T>A (p.Tyr758Ter)
n.211T>A
c.189T>A (p.Tyr63Ter)
2g.27232042T>CCA425384824CADc.2463T>C (p.Tyr821=)
c.2274T>C (p.Tyr758=)
n.211T>C
c.189T>C (p.Tyr63=)
2g.27232042T>GCA346211336CADc.2463T>G (p.Tyr821Ter)
c.2274T>G (p.Tyr758Ter)
n.211T>G
c.189T>G (p.Tyr63Ter)
2g.27232043T>ACA346211340CADc.2464T>A (p.Ser822Thr)
c.2275T>A (p.Ser759Thr)
n.212T>A
c.190T>A (p.Ser64Thr)
2g.27232043T>CCA346211339CADc.2464T>C (p.Ser822Pro)
c.2275T>C (p.Ser759Pro)
n.212T>C
c.190T>C (p.Ser64Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.27232043T>GCA346211338CADc.2464T>G (p.Ser822Ala)
c.2275T>G (p.Ser759Ala)
n.212T>G
c.190T>G (p.Ser64Ala)
2g.27232043T=CA1240180266CADc.2464T= (p.Ser822=)
c.2275T= (p.Ser759=)
n.212T=
c.190T= (p.Ser64=)
2g.27232044C>ACA346211341CADc.2465C>A (p.Ser822Ter)
c.2276C>A (p.Ser759Ter)
n.213C>A
c.191C>A (p.Ser64Ter)
2g.27232044C>GCA346211344CADc.2465C>G (p.Ser822Ter)
c.2276C>G (p.Ser759Ter)
n.213C>G
c.191C>G (p.Ser64Ter)
2g.27232044C>TCA346211345CADc.2465C>T (p.Ser822Leu)
c.2276C>T (p.Ser759Leu)
n.213C>T
c.191C>T (p.Ser64Leu)
2g.27232045A>CCA425384825CADc.2466A>C (p.Ser822=)
c.2277A>C (p.Ser759=)
n.214A>C
c.192A>C (p.Ser64=)
2g.27232045A>GCA425384826CADc.2466A>G (p.Ser822=)
c.2277A>G (p.Ser759=)
n.214A>G
c.192A>G (p.Ser64=)
 ClinVar gnomAD v4
2g.27232045A>TCA425384827CADc.2466A>T (p.Ser822=)
c.2277A>T (p.Ser759=)
n.214A>T
c.192A>T (p.Ser64=)
 gnomAD v4
2g.27232046G>ACA346211347CADc.2467G>A (p.Val823Met)
c.2278G>A (p.Val760Met)
n.215G>A
c.193G>A (p.Val65Met)
 ClinVar dbSNP
2g.27232046G>CCA346211348CADc.2467G>C (p.Val823Leu)
c.2278G>C (p.Val760Leu)
n.215G>C
c.193G>C (p.Val65Leu)
 gnomAD v4 COSMIC
2g.27232046G=CA1240180267CADc.2467G= (p.Val823=)
c.2278G= (p.Val760=)
n.215G=
c.193G= (p.Val65=)
2g.27232046G>TCA346211349CADc.2467G>T (p.Val823Leu)
c.2278G>T (p.Val760Leu)
n.215G>T
c.193G>T (p.Val65Leu)
2g.27232047T>ACA1573027CADc.2468T>A (p.Val823Glu)
c.2279T>A (p.Val760Glu)
n.216T>A
c.194T>A (p.Val65Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232047T>CCA346211353CADc.2468T>C (p.Val823Ala)
c.2279T>C (p.Val760Ala)
n.216T>C
c.194T>C (p.Val65Ala)
 ClinVar dbSNP gnomAD v4
2g.27232047T>GCA346211352CADc.2468T>G (p.Val823Gly)
c.2279T>G (p.Val760Gly)
n.216T>G
c.194T>G (p.Val65Gly)
2g.27232047T=CA1240180268CADc.2468T= (p.Val823=)
c.2279T= (p.Val760=)
n.216T=
c.194T= (p.Val65=)
2g.27232048G>ACA425384828CADc.2469G>A (p.Val823=)
c.2280G>A (p.Val760=)
n.217G>A
c.195G>A (p.Val65=)
2g.27232048G>CCA425384830CADc.2469G>C (p.Val823=)
c.2280G>C (p.Val760=)
n.217G>C
c.195G>C (p.Val65=)
2g.27232048G>TCA425384829CADc.2469G>T (p.Val823=)
c.2280G>T (p.Val760=)
n.217G>T
c.195G>T (p.Val65=)
2g.27232049G>ACA346211355CADc.2470G>A (p.Asp824Asn)
c.2281G>A (p.Asp761Asn)
n.218G>A
c.196G>A (p.Asp66Asn)
2g.27232049G>CCA346211356CADc.2470G>C (p.Asp824His)
c.2281G>C (p.Asp761His)
n.218G>C
c.196G>C (p.Asp66His)
2g.27232049G>TCA346211358CADc.2470G>T (p.Asp824Tyr)
c.2281G>T (p.Asp761Tyr)
n.218G>T
c.196G>T (p.Asp66Tyr)
2g.27232050A=CA1240180269CADc.2471A= (p.Asp824=)
c.2282A= (p.Asp761=)
n.219A=
c.197A= (p.Asp66=)
2g.27232050A>CCA346211360CADc.2471A>C (p.Asp824Ala)
c.2282A>C (p.Asp761Ala)
n.219A>C
c.197A>C (p.Asp66Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.27232050A>GCA1573028CADc.2471A>G (p.Asp824Gly)
c.2282A>G (p.Asp761Gly)
n.219A>G
c.197A>G (p.Asp66Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232050A>TCA346211362CADc.2471A>T (p.Asp824Val)
c.2282A>T (p.Asp761Val)
n.219A>T
c.197A>T (p.Asp66Val)
2g.27232050_27232052delCA2658308555CADc.2471_2473del (p.Asp824_Arg825delinsGly)
c.2282_2284del (p.Asp761_Arg762delinsGly)
n.219_221del
c.197_199del (p.Asp66_Arg67delinsGly)
 gnomAD v4
2g.27232051C>ACA346211365CADc.2472C>A (p.Asp824Glu)
c.2283C>A (p.Asp761Glu)
n.220C>A
c.198C>A (p.Asp66Glu)
2g.27232051C=CA1240180270CADc.2472C= (p.Asp824=)
c.2283C= (p.Asp761=)
n.220C=
c.198C= (p.Asp66=)
2g.27232051C>GCA346211366CADc.2472C>G (p.Asp824Glu)
c.2283C>G (p.Asp761Glu)
n.220C>G
c.198C>G (p.Asp66Glu)
2g.27232051C>TCA425384831CADc.2472C>T (p.Asp824=)
c.2283C>T (p.Asp761=)
n.220C>T
c.198C>T (p.Asp66=)
 dbSNP gnomAD v2 gnomAD v4
2g.27232052C>ACA346211367CADc.2473C>A (p.Arg825Ser)
c.2284C>A (p.Arg762Ser)
n.221C>A
c.199C>A (p.Arg67Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.27232052C=CA1240180271CADc.2473C= (p.Arg825=)
c.2284C= (p.Arg762=)
n.221C=
c.199C= (p.Arg67=)
2g.27232052C>GCA346211369CADc.2473C>G (p.Arg825Gly)
c.2284C>G (p.Arg762Gly)
n.221C>G
c.199C>G (p.Arg67Gly)
2g.27232052C>TCA44507083CADc.2473C>T (p.Arg825Cys)
c.2284C>T (p.Arg762Cys)
n.221C>T
c.199C>T (p.Arg67Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232053G>ACA1573029CADc.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
2g.27232053G>CCA346211372CADc.2474G>C (p.Arg825Pro)
c.2285G>C (p.Arg762Pro)
n.222G>C
c.200G>C (p.Arg67Pro)
2g.27232053G=CA1240180272CADc.2474G= (p.Arg825=)
c.2285G= (p.Arg762=)
n.222G=
c.200G= (p.Arg67=)
2g.27232053G>TCA346211374CADc.2474G>T (p.Arg825Leu)
c.2285G>T (p.Arg762Leu)
n.222G>T
c.200G>T (p.Arg67Leu)
 gnomAD v4
2g.27232054C>ACA425384832CADc.2475C>A (p.Arg825=)
c.2286C>A (p.Arg762=)
n.223C>A
c.201C>A (p.Arg67=)
2g.27232054C>GCA425384834CADc.2475C>G (p.Arg825=)
c.2286C>G (p.Arg762=)
n.223C>G
c.201C>G (p.Arg67=)
2g.27232054C>TCA425384833CADc.2475C>T (p.Arg825=)
c.2286C>T (p.Arg762=)
n.223C>T
c.201C>T (p.Arg67=)
 gnomAD v4
2g.27232055C>ACA346211376CADc.2476C>A (p.Leu826Met)
c.2287C>A (p.Leu763Met)
n.224C>A
c.202C>A (p.Leu68Met)
 dbSNP
2g.27232055C=CA1240180273CADc.2476C= (p.Leu826=)
c.2287C= (p.Leu763=)
n.224C=
c.202C= (p.Leu68=)
2g.27232055C>GCA346211377CADc.2476C>G (p.Leu826Val)
c.2287C>G (p.Leu763Val)
n.224C>G
c.202C>G (p.Leu68Val)
2g.27232055C>TCA425384835CADc.2476C>T (p.Leu826=)
c.2287C>T (p.Leu763=)
n.224C>T
c.202C>T (p.Leu68=)
2g.27232056T>ACA346211380CADc.2477T>A (p.Leu826Gln)
c.2288T>A (p.Leu763Gln)
n.225T>A
c.203T>A (p.Leu68Gln)
2g.27232056T>CCA346211381CADc.2477T>C (p.Leu826Pro)
c.2288T>C (p.Leu763Pro)
n.225T>C
c.203T>C (p.Leu68Pro)
2g.27232056T>GCA346211383CADc.2477T>G (p.Leu826Arg)
c.2288T>G (p.Leu763Arg)
n.225T>G
c.203T>G (p.Leu68Arg)
2g.27232057G>ACA425384836CADc.2478G>A (p.Leu826=)
c.2289G>A (p.Leu763=)
n.226G>A
c.204G>A (p.Leu68=)
 dbSNP gnomAD v4
2g.27232057G>CCA425384837CADc.2478G>C (p.Leu826=)
c.2289G>C (p.Leu763=)
n.226G>C
c.204G>C (p.Leu68=)
2g.27232057G=CA1240180274CADc.2478G= (p.Leu826=)
c.2289G= (p.Leu763=)
n.226G=
c.204G= (p.Leu68=)
2g.27232057G>TCA425384838CADc.2478G>T (p.Leu826=)
c.2289G>T (p.Leu763=)
n.226G>T
c.204G>T (p.Leu68=)
2g.27232058T>ACA346211384CADc.2479T>A (p.Tyr827Asn)
c.2290T>A (p.Tyr764Asn)
n.227T>A
c.205T>A (p.Tyr69Asn)
2g.27232058T>CCA346211385CADc.2479T>C (p.Tyr827His)
c.2290T>C (p.Tyr764His)
n.227T>C
c.205T>C (p.Tyr69His)
2g.27232058T>GCA346211388CADc.2479T>G (p.Tyr827Asp)
c.2290T>G (p.Tyr764Asp)
n.227T>G
c.205T>G (p.Tyr69Asp)
2g.27232059A>CCA346211390CADc.2480A>C (p.Tyr827Ser)
c.2291A>C (p.Tyr764Ser)
n.228A>C
c.206A>C (p.Tyr69Ser)
2g.27232059A>GCA346211391CADc.2480A>G (p.Tyr827Cys)
c.2291A>G (p.Tyr764Cys)
n.228A>G
c.206A>G (p.Tyr69Cys)
2g.27232059A>TCA346211393CADc.2480A>T (p.Tyr827Phe)
c.2291A>T (p.Tyr764Phe)
n.228A>T
c.206A>T (p.Tyr69Phe)
2g.27232060T>ACA346211395CADc.2481T>A (p.Tyr827Ter)
c.2292T>A (p.Tyr764Ter)
n.229T>A
c.207T>A (p.Tyr69Ter)
2g.27232060T>CCA425384839CADc.2481T>C (p.Tyr827=)
c.2292T>C (p.Tyr764=)
n.229T>C
c.207T>C (p.Tyr69=)
2g.27232060T>GCA346211397CADc.2481T>G (p.Tyr827Ter)
c.2292T>G (p.Tyr764Ter)
n.229T>G
c.207T>G (p.Tyr69Ter)
2g.27232061G>ACA346211401CADc.2482G>A (p.Glu828Lys)
c.2293G>A (p.Glu765Lys)
n.230G>A
c.208G>A (p.Glu70Lys)
2g.27232061G>CCA1573030CADc.2482G>C (p.Glu828Gln)
c.2293G>C (p.Glu765Gln)
n.230G>C
c.208G>C (p.Glu70Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232061G=CA1240180275CADc.2482G= (p.Glu828=)
c.2293G= (p.Glu765=)
n.230G=
c.208G= (p.Glu70=)
2g.27232061G>TCA346211399CADc.2482G>T (p.Glu828Ter)
c.2293G>T (p.Glu765Ter)
n.230G>T
c.208G>T (p.Glu70Ter)
2g.27232062A>CCA346211403CADc.2483A>C (p.Glu828Ala)
c.2294A>C (p.Glu765Ala)
n.231A>C
c.209A>C (p.Glu70Ala)
2g.27232062A>GCA346211404CADc.2483A>G (p.Glu828Gly)
c.2294A>G (p.Glu765Gly)
n.231A>G
c.209A>G (p.Glu70Gly)
2g.27232062A>TCA346211405CADc.2483A>T (p.Glu828Val)
c.2294A>T (p.Glu765Val)
n.231A>T
c.209A>T (p.Glu70Val)
2g.27232063G>ACA425384840CADc.2484G>A (p.Glu828=)
c.2295G>A (p.Glu765=)
n.232G>A
c.210G>A (p.Glu70=)
2g.27232063G>CCA346211407CADc.2484G>C (p.Glu828Asp)
c.2295G>C (p.Glu765Asp)
n.232G>C
c.210G>C (p.Glu70Asp)
2g.27232063G>TCA346211409CADc.2484G>T (p.Glu828Asp)
c.2295G>T (p.Glu765Asp)
n.232G>T
c.210G>T (p.Glu70Asp)
2g.27232064C>ACA346211411CADc.2485C>A (p.Leu829Ile)
c.2296C>A (p.Leu766Ile)
n.233C>A
c.211C>A (p.Leu71Ile)
 gnomAD v4
2g.27232064C=CA1240180276CADc.2485C= (p.Leu829=)
c.2296C= (p.Leu766=)
n.233C=
c.211C= (p.Leu71=)
2g.27232064C>GCA346211412CADc.2485C>G (p.Leu829Val)
c.2296C>G (p.Leu766Val)
n.233C>G
c.211C>G (p.Leu71Val)
2g.27232064C>TCA346211414CADc.2485C>T (p.Leu829Phe)
c.2296C>T (p.Leu766Phe)
n.233C>T
c.211C>T (p.Leu71Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232065T>ACA346211416CADc.2486T>A (p.Leu829His)
c.2297T>A (p.Leu766His)
n.234T>A
c.212T>A (p.Leu71His)
2g.27232065T>CCA346211418CADc.2486T>C (p.Leu829Pro)
c.2297T>C (p.Leu766Pro)
n.234T>C
c.212T>C (p.Leu71Pro)
2g.27232065T>GCA346211419CADc.2486T>G (p.Leu829Arg)
c.2297T>G (p.Leu766Arg)
n.234T>G
c.212T>G (p.Leu71Arg)
2g.27232066C>ACA425384841CADc.2487C>A (p.Leu829=)
c.2298C>A (p.Leu766=)
n.235C>A
c.213C>A (p.Leu71=)
2g.27232066C>GCA425384842CADc.2487C>G (p.Leu829=)
c.2298C>G (p.Leu766=)
n.235C>G
c.213C>G (p.Leu71=)
2g.27232066C>TCA425384843CADc.2487C>T (p.Leu829=)
c.2298C>T (p.Leu766=)
n.235C>T
c.213C>T (p.Leu71=)
2g.27232067A>CCA346211420CADc.2488A>C (p.Thr830Pro)
c.2299A>C (p.Thr767Pro)
n.236A>C
c.214A>C (p.Thr72Pro)
2g.27232067A>GCA346211422CADc.2488A>G (p.Thr830Ala)
c.2299A>G (p.Thr767Ala)
n.236A>G
c.214A>G (p.Thr72Ala)
2g.27232067A>TCA346211426CADc.2488A>T (p.Thr830Ser)
c.2299A>T (p.Thr767Ser)
n.236A>T
c.214A>T (p.Thr72Ser)
2g.27232068C>ACA346211431CADc.2489C>A (p.Thr830Lys)
c.2300C>A (p.Thr767Lys)
n.237C>A
c.215C>A (p.Thr72Lys)
2g.27232068C>GCA346211429CADc.2489C>G (p.Thr830Arg)
c.2300C>G (p.Thr767Arg)
n.237C>G
c.215C>G (p.Thr72Arg)
2g.27232068C>TCA346211428CADc.2489C>T (p.Thr830Ile)
c.2300C>T (p.Thr767Ile)
n.237C>T
c.215C>T (p.Thr72Ile)
2g.27232069A>CCA425384844CADc.2490A>C (p.Thr830=)
c.2301A>C (p.Thr767=)
n.238A>C
c.216A>C (p.Thr72=)
2g.27232069A>GCA425384845CADc.2490A>G (p.Thr830=)
c.2301A>G (p.Thr767=)
n.238A>G
c.216A>G (p.Thr72=)
2g.27232069A>TCA425384846CADc.2490A>T (p.Thr830=)
c.2301A>T (p.Thr767=)
n.238A>T
c.216A>T (p.Thr72=)
2g.27232070C>ACA346211432CADc.2491C>A (p.Arg831Ser)
c.2302C>A (p.Arg768Ser)
n.239C>A
c.217C>A (p.Arg73Ser)
 gnomAD v4
2g.27232070C>GCA346211434CADc.2491C>G (p.Arg831Gly)
c.2302C>G (p.Arg768Gly)
n.239C>G
c.217C>G (p.Arg73Gly)
2g.27232070C>TCA346211436CADc.2491C>T (p.Arg831Cys)
c.2302C>T (p.Arg768Cys)
n.239C>T
c.217C>T (p.Arg73Cys)
 ClinVar dbSNP
2g.27232071G>ACA1573031CADc.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
2g.27232071G>CCA346211438CADc.2492G>C (p.Arg831Pro)
c.2303G>C (p.Arg768Pro)
n.240G>C
c.218G>C (p.Arg73Pro)
2g.27232071G=CA1240180277CADc.2492G= (p.Arg831=)
c.2303G= (p.Arg768=)
n.240G=
c.218G= (p.Arg73=)
2g.27232071G>TCA346211439CADc.2492G>T (p.Arg831Leu)
c.2303G>T (p.Arg768Leu)
n.240G>T
c.218G>T (p.Arg73Leu)
2g.27232072C>ACA425384847CADc.2493C>A (p.Arg831=)
c.2304C>A (p.Arg768=)
n.241C>A
c.219C>A (p.Arg73=)
2g.27232072C>GCA425384848CADc.2493C>G (p.Arg831=)
c.2304C>G (p.Arg768=)
n.241C>G
c.219C>G (p.Arg73=)
2g.27232072C>TCA425384849CADc.2493C>T (p.Arg831=)
c.2304C>T (p.Arg768=)
n.241C>T
c.219C>T (p.Arg73=)
2g.27232073A=CA1240180278CADc.2494A= (p.Ile832=)
c.2305A= (p.Ile769=)
n.242A=
c.220A= (p.Ile74=)
2g.27232073A>CCA346211444CADc.2494A>C (p.Ile832Leu)
c.2305A>C (p.Ile769Leu)
n.242A>C
c.220A>C (p.Ile74Leu)
 dbSNP gnomAD v4
2g.27232073A>GCA346211441CADc.2494A>G (p.Ile832Val)
c.2305A>G (p.Ile769Val)
n.242A>G
c.220A>G (p.Ile74Val)
 dbSNP gnomAD v3 gnomAD v4
2g.27232073A>TCA346211443CADc.2494A>T (p.Ile832Phe)
c.2305A>T (p.Ile769Phe)
n.242A>T
c.220A>T (p.Ile74Phe)
2g.27232074T>ACA346211446CADc.2495T>A (p.Ile832Asn)
c.2306T>A (p.Ile769Asn)
n.243T>A
c.221T>A (p.Ile74Asn)
2g.27232074T>CCA346211447CADc.2495T>C (p.Ile832Thr)
c.2306T>C (p.Ile769Thr)
n.243T>C
c.221T>C (p.Ile74Thr)
2g.27232074T>GCA346211448CADc.2495T>G (p.Ile832Ser)
c.2306T>G (p.Ile769Ser)
n.243T>G
c.221T>G (p.Ile74Ser)
2g.27232075C>ACA425384850CADc.2496C>A (p.Ile832=)
c.2307C>A (p.Ile769=)
n.244C>A
c.222C>A (p.Ile74=)
2g.27232075C=CA1240180279CADc.2496C= (p.Ile832=)
c.2307C= (p.Ile769=)
n.244C=
c.222C= (p.Ile74=)
2g.27232075C>GCA346211449CADc.2496C>G (p.Ile832Met)
c.2307C>G (p.Ile769Met)
n.244C>G
c.222C>G (p.Ile74Met)
2g.27232075C>TCA1573032CADc.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
2g.27232076G>ACA1573033CADc.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
2g.27232076G>CCA346211453CADc.2497G>C (p.Asp833His)
c.2308G>C (p.Asp770His)
n.245G>C
c.223G>C (p.Asp75His)
2g.27232076G=CA1240180280CADc.2497G= (p.Asp833=)
c.2308G= (p.Asp770=)
n.245G=
c.223G= (p.Asp75=)
2g.27232076G>TCA346211452CADc.2497G>T (p.Asp833Tyr)
c.2308G>T (p.Asp770Tyr)
n.245G>T
c.223G>T (p.Asp75Tyr)
2g.27232077A>CCA346211455CADc.2498A>C (p.Asp833Ala)
c.2309A>C (p.Asp770Ala)
n.246A>C
c.224A>C (p.Asp75Ala)
2g.27232077A>GCA346211457CADc.2498A>G (p.Asp833Gly)
c.2309A>G (p.Asp770Gly)
n.246A>G
c.224A>G (p.Asp75Gly)
 gnomAD v4
2g.27232077A>TCA346211459CADc.2498A>T (p.Asp833Val)
c.2309A>T (p.Asp770Val)
n.246A>T
c.224A>T (p.Asp75Val)
2g.27232078C>ACA346211461CADc.2499C>A (p.Asp833Glu)
c.2310C>A (p.Asp770Glu)
n.247C>A
c.225C>A (p.Asp75Glu)
2g.27232078C>GCA346211463CADc.2499C>G (p.Asp833Glu)
c.2310C>G (p.Asp770Glu)
n.247C>G
c.225C>G (p.Asp75Glu)
2g.27232078C>TCA425384851CADc.2499C>T (p.Asp833=)
c.2310C>T (p.Asp770=)
n.247C>T
c.225C>T (p.Asp75=)
2g.27232079C>ACA346211464CADc.2500C>A (p.Arg834Ser)
c.2311C>A (p.Arg771Ser)
n.248C>A
c.226C>A (p.Arg76Ser)
2g.27232079C=CA1240180281CADc.2500C= (p.Arg834=)
c.2311C= (p.Arg771=)
n.248C=
c.226C= (p.Arg76=)
2g.27232079C>GCA346211465CADc.2500C>G (p.Arg834Gly)
c.2311C>G (p.Arg771Gly)
n.248C>G
c.226C>G (p.Arg76Gly)
2g.27232079C>TCA1573034CADc.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
2g.27232080G>ACA1573035CADc.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
2g.27232080G>CCA346211469CADc.2501G>C (p.Arg834Pro)
c.2312G>C (p.Arg771Pro)
n.249G>C
c.227G>C (p.Arg76Pro)
2g.27232080G=CA1240180282CADc.2501G= (p.Arg834=)
c.2312G= (p.Arg771=)
n.249G=
c.227G= (p.Arg76=)
2g.27232080G>TCA346211470CADc.2501G>T (p.Arg834Leu)
c.2312G>T (p.Arg771Leu)
n.249G>T
c.227G>T (p.Arg76Leu)
 dbSNP gnomAD v4 COSMIC
2g.27232081C>ACA425384852CADc.2502C>A (p.Arg834=)
c.2313C>A (p.Arg771=)
n.250C>A
c.228C>A (p.Arg76=)
2g.27232081C>GCA425384853CADc.2502C>G (p.Arg834=)
c.2313C>G (p.Arg771=)
n.250C>G
c.228C>G (p.Arg76=)
2g.27232081C>TCA425384854CADc.2502C>T (p.Arg834=)
c.2313C>T (p.Arg771=)
n.250C>T
c.228C>T (p.Arg76=)
2g.27232082T>ACA346211472CADc.2503T>A (p.Trp835Arg)
c.2314T>A (p.Trp772Arg)
n.251T>A
c.229T>A (p.Trp77Arg)
2g.27232082T>CCA346211475CADc.2503T>C (p.Trp835Arg)
c.2314T>C (p.Trp772Arg)
n.251T>C
c.229T>C (p.Trp77Arg)
2g.27232082T>GCA346211474CADc.2503T>G (p.Trp835Gly)
c.2314T>G (p.Trp772Gly)
n.251T>G
c.229T>G (p.Trp77Gly)
2g.27232082dupCA2698928835CADc.2503dup (p.Trp835LeufsTer?)
c.2314dup (p.Trp772LeufsTer?)
n.251dup
c.229dup (p.Trp77LeufsTer?)
 dbSNP
2g.27232083G>ACA346211477CADc.2504G>A (p.Trp835Ter)
c.2315G>A (p.Trp772Ter)
n.252G>A
c.230G>A (p.Trp77Ter)
2g.27232083G>CCA346211480CADc.2504G>C (p.Trp835Ser)
c.2315G>C (p.Trp772Ser)
n.252G>C
c.230G>C (p.Trp77Ser)
2g.27232083G>TCA346211478CADc.2504G>T (p.Trp835Leu)
c.2315G>T (p.Trp772Leu)
n.252G>T
c.230G>T (p.Trp77Leu)
2g.27232084G>ACA346211482CADc.2505G>A (p.Trp835Ter)
c.2316G>A (p.Trp772Ter)
n.253G>A
c.231G>A (p.Trp77Ter)
2g.27232084G>CCA346211483CADc.2505G>C (p.Trp835Cys)
c.2316G>C (p.Trp772Cys)
n.253G>C
c.231G>C (p.Trp77Cys)
2g.27232084G>TCA346211485CADc.2505G>T (p.Trp835Cys)
c.2316G>T (p.Trp772Cys)
n.253G>T
c.231G>T (p.Trp77Cys)
2g.27232085T>ACA346211487CADc.2506T>A (p.Phe836Ile)
c.2317T>A (p.Phe773Ile)
n.254T>A
c.232T>A (p.Phe78Ile)
2g.27232085T>CCA346211489CADc.2506T>C (p.Phe836Leu)
c.2317T>C (p.Phe773Leu)
n.254T>C
c.232T>C (p.Phe78Leu)
2g.27232085T>GCA346211490CADc.2506T>G (p.Phe836Val)
c.2317T>G (p.Phe773Val)
n.254T>G
c.232T>G (p.Phe78Val)
2g.27232086T>ACA346211492CADc.2507T>A (p.Phe836Tyr)
c.2318T>A (p.Phe773Tyr)
n.255T>A
c.233T>A (p.Phe78Tyr)
2g.27232086T>CCA346211494CADc.2507T>C (p.Phe836Ser)
c.2318T>C (p.Phe773Ser)
n.255T>C
c.233T>C (p.Phe78Ser)
2g.27232086T>GCA346211496CADc.2507T>G (p.Phe836Cys)
c.2318T>G (p.Phe773Cys)
n.255T>G
c.233T>G (p.Phe78Cys)
2g.27232087C>ACA346211497CADc.2508C>A (p.Phe836Leu)
c.2319C>A (p.Phe773Leu)
n.256C>A
c.234C>A (p.Phe78Leu)
2g.27232087C=CA1240180283CADc.2508C= (p.Phe836=)
c.2319C= (p.Phe773=)
n.256C=
c.234C= (p.Phe78=)
2g.27232087C>GCA346211498CADc.2508C>G (p.Phe836Leu)
c.2319C>G (p.Phe773Leu)
n.256C>G
c.234C>G (p.Phe78Leu)
 dbSNP
2g.27232087C>TCA425384855CADc.2508C>T (p.Phe836=)
c.2319C>T (p.Phe773=)
n.256C>T
c.234C>T (p.Phe78=)
 ClinVar
2g.27232088C>ACA346211500CADc.2509C>A (p.Leu837Met)
c.2320C>A (p.Leu774Met)
n.257C>A
c.235C>A (p.Leu79Met)
2g.27232088C=CA1240180284CADc.2509C= (p.Leu837=)
c.2320C= (p.Leu774=)
n.257C=
c.235C= (p.Leu79=)
2g.27232088C>GCA346211502CADc.2509C>G (p.Leu837Val)
c.2320C>G (p.Leu774Val)
n.257C>G
c.235C>G (p.Leu79Val)
 ClinVar
2g.27232088C>TCA44507174CADc.2509C>T (p.Leu837=)
c.2320C>T (p.Leu774=)
n.257C>T
c.235C>T (p.Leu79=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27232089T>ACA346211503CADc.2510T>A (p.Leu837Gln)
c.2321T>A (p.Leu774Gln)
n.258T>A
c.236T>A (p.Leu79Gln)
2g.27232089T>CCA346211505CADc.2510T>C (p.Leu837Pro)
c.2321T>C (p.Leu774Pro)
n.258T>C
c.236T>C (p.Leu79Pro)
2g.27232089T>GCA346211504CADc.2510T>G (p.Leu837Arg)
c.2321T>G (p.Leu774Arg)
n.258T>G
c.236T>G (p.Leu79Arg)
2g.27232090G>ACA425384856CADc.2511G>A (p.Leu837=)
c.2322G>A (p.Leu774=)
n.259G>A
c.237G>A (p.Leu79=)
 dbSNP
2g.27232090G>CCA425384858CADc.2511G>C (p.Leu837=)
c.2322G>C (p.Leu774=)
n.259G>C
c.237G>C (p.Leu79=)
 gnomAD v4
2g.27232090G=CA1240180285CADc.2511G= (p.Leu837=)
c.2322G= (p.Leu774=)
n.259G=
c.237G= (p.Leu79=)
2g.27232090G>TCA425384857CADc.2511G>T (p.Leu837=)
c.2322G>T (p.Leu774=)
n.259G>T
c.237G>T (p.Leu79=)
2g.27232091C>ACA346211507CADc.2512C>A (p.His838Asn)
c.2323C>A (p.His775Asn)
n.260C>A
c.238C>A (p.His80Asn)
2g.27232091C>GCA346211508CADc.2512C>G (p.His838Asp)
c.2323C>G (p.His775Asp)
n.260C>G
c.238C>G (p.His80Asp)
2g.27232091C>TCA346211510CADc.2512C>T (p.His838Tyr)
c.2323C>T (p.His775Tyr)
n.260C>T
c.238C>T (p.His80Tyr)
2g.27232092A=CA1240180286CADc.2513A= (p.His838=)
c.2324A= (p.His775=)
n.261A=
c.239A= (p.His80=)
2g.27232092A>CCA346211512CADc.2513A>C (p.His838Pro)
c.2324A>C (p.His775Pro)
n.261A>C
c.239A>C (p.His80Pro)
2g.27232092A>GCA346211513CADc.2513A>G (p.His838Arg)
c.2324A>G (p.His775Arg)
n.261A>G
c.239A>G (p.His80Arg)
 dbSNP
2g.27232092A>TCA346211515CADc.2513A>T (p.His838Leu)
c.2324A>T (p.His775Leu)
n.261A>T
c.239A>T (p.His80Leu)
2g.27232093C>ACA346211516CADc.2514C>A (p.His838Gln)
c.2325C>A (p.His775Gln)
n.262C>A
c.240C>A (p.His80Gln)
2g.27232093C>GCA346211517CADc.2514C>G (p.His838Gln)
c.2325C>G (p.His775Gln)
n.262C>G
c.240C>G (p.His80Gln)
2g.27232093C>TCA425384859CADc.2514C>T (p.His838=)
c.2325C>T (p.His775=)
n.262C>T
c.240C>T (p.His80=)
2g.27232094C>ACA425384860CADc.2515C>A (p.Arg839=)
c.2326C>A (p.Arg776=)
n.263C>A
c.241C>A (p.Arg81=)
2g.27232094C=CA1240180287CADc.2515C= (p.Arg839=)
c.2326C= (p.Arg776=)
n.263C=
c.241C= (p.Arg81=)
2g.27232094C>GCA346211519CADc.2515C>G (p.Arg839Gly)
c.2326C>G (p.Arg776Gly)
n.263C>G
c.241C>G (p.Arg81Gly)
 dbSNP
2g.27232094C>TCA1573036CADc.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
2g.27232095G>ACA1573037CADc.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
2g.27232095G>CCA346211522CADc.2516G>C (p.Arg839Pro)
c.2327G>C (p.Arg776Pro)
n.264G>C
c.242G>C (p.Arg81Pro)
2g.27232095G=CA1240180288CADc.2516G= (p.Arg839=)
c.2327G= (p.Arg776=)
n.264G=
c.242G= (p.Arg81=)
2g.27232095G>TCA346211520CADc.2516G>T (p.Arg839Leu)
c.2327G>T (p.Arg776Leu)
n.264G>T
c.242G>T (p.Arg81Leu)
2g.27232096A>CCA425384861CADc.2517A>C (p.Arg839=)
c.2328A>C (p.Arg776=)
n.265A>C
c.243A>C (p.Arg81=)
2g.27232096A>GCA425384863CADc.2517A>G (p.Arg839=)
c.2328A>G (p.Arg776=)
n.265A>G
c.243A>G (p.Arg81=)
2g.27232096A>TCA425384862CADc.2517A>T (p.Arg839=)
c.2328A>T (p.Arg776=)
n.265A>T
c.243A>T (p.Arg81=)
2g.27232097A>CCA346211527CADc.2518A>C (p.Met840Leu)
c.2329A>C (p.Met777Leu)
n.266A>C
c.244A>C (p.Met82Leu)
2g.27232097A>GCA346211525CADc.2518A>G (p.Met840Val)
c.2329A>G (p.Met777Val)
n.266A>G
c.244A>G (p.Met82Val)
 gnomAD v4
2g.27232097A>TCA346211526CADc.2518A>T (p.Met840Leu)
c.2329A>T (p.Met777Leu)
n.266A>T
c.244A>T (p.Met82Leu)
2g.27232098T>ACA346211530CADc.2519T>A (p.Met840Lys)
c.2330T>A (p.Met777Lys)
n.267T>A
c.245T>A (p.Met82Lys)
2g.27232098T>CCA346211531CADc.2519T>C (p.Met840Thr)
c.2330T>C (p.Met777Thr)
n.267T>C
c.245T>C (p.Met82Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232098T>GCA346211533CADc.2519T>G (p.Met840Arg)
c.2330T>G (p.Met777Arg)
n.267T>G
c.245T>G (p.Met82Arg)
2g.27232098T=CA1240180289CADc.2519T= (p.Met840=)
c.2330T= (p.Met777=)
n.267T=
c.245T= (p.Met82=)
2g.27232099G>ACA346211537CADc.2520G>A (p.Met840Ile)
c.2331G>A (p.Met777Ile)
n.268G>A
c.246G>A (p.Met82Ile)
 gnomAD v4
2g.27232099G>CCA346211539CADc.2520G>C (p.Met840Ile)
c.2331G>C (p.Met777Ile)
n.268G>C
c.246G>C (p.Met82Ile)
2g.27232099G>TCA346211540CADc.2520G>T (p.Met840Ile)
c.2331G>T (p.Met777Ile)
n.268G>T
c.246G>T (p.Met82Ile)

Number of alleles fetched