Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214932660A>CCA350792347ABCA12,SNHG31c.7762T>G (p.Ser2588Ala)
c.6808T>G (p.Ser2270Ala)
n.8062T>G
n.322-15165A>C
c.7771T>G (p.Ser2591Ala)
n.8260T>G
2g.214932660A>GCA350792348ABCA12,SNHG31c.7762T>C (p.Ser2588Pro)
c.6808T>C (p.Ser2270Pro)
n.8062T>C
n.322-15165A>G
c.7771T>C (p.Ser2591Pro)
n.8260T>C
2g.214932660A>TCA350792349ABCA12,SNHG31c.7762T>A (p.Ser2588Thr)
c.6808T>A (p.Ser2270Thr)
n.8062T>A
n.322-15165A>T
c.7771T>A (p.Ser2591Thr)
n.8260T>A
2g.214932661G>ACA431319034ABCA12,SNHG31c.7761C>T (p.Asp2587=)
c.6807C>T (p.Asp2269=)
n.8061C>T
n.322-15164G>A
c.7770C>T (p.Asp2590=)
n.8259C>T
2g.214932661G>CCA350792350ABCA12,SNHG31c.7761C>G (p.Asp2587Glu)
c.6807C>G (p.Asp2269Glu)
n.8061C>G
n.322-15164G>C
c.7770C>G (p.Asp2590Glu)
n.8259C>G
 dbSNP gnomAD v3 gnomAD v4
2g.214932661G=CA1327141151ABCA12,SNHG31c.7761C= (p.Asp2587=)
c.6807C= (p.Asp2269=)
n.8061C=
n.322-15164G=
c.7770C= (p.Asp2590=)
n.8259C=
2g.214932661G>TCA350792351ABCA12,SNHG31c.7761C>A (p.Asp2587Glu)
c.6807C>A (p.Asp2269Glu)
n.8061C>A
n.322-15164G>T
c.7770C>A (p.Asp2590Glu)
n.8259C>A
2g.214932662T>ACA350792352ABCA12,SNHG31c.7760A>T (p.Asp2587Val)
c.6806A>T (p.Asp2269Val)
n.8060A>T
n.322-15163T>A
c.7769A>T (p.Asp2590Val)
n.8258A>T
2g.214932662T>CCA350792353ABCA12,SNHG31c.7760A>G (p.Asp2587Gly)
c.6806A>G (p.Asp2269Gly)
n.8060A>G
n.322-15163T>C
c.7769A>G (p.Asp2590Gly)
n.8258A>G
2g.214932662T>GCA350792354ABCA12,SNHG31c.7760A>C (p.Asp2587Ala)
c.6806A>C (p.Asp2269Ala)
n.8060A>C
n.322-15163T>G
c.7769A>C (p.Asp2590Ala)
n.8258A>C
2g.214932663C>ACA350792356ABCA12,SNHG31c.7759G>T (p.Asp2587Tyr)
c.6805G>T (p.Asp2269Tyr)
n.8059G>T
n.322-15162C>A
c.7768G>T (p.Asp2590Tyr)
n.8257G>T
2g.214932663C=CA1327141153ABCA12,SNHG31c.7759G= (p.Asp2587=)
c.6805G= (p.Asp2269=)
n.8059G=
n.322-15162C=
c.7768G= (p.Asp2590=)
n.8257G=
2g.214932663C>GCA2090556ABCA12,SNHG31c.7759G>C (p.Asp2587His)
c.6805G>C (p.Asp2269His)
n.8059G>C
n.322-15162C>G
c.7768G>C (p.Asp2590His)
n.8257G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214932663C>TCA350792355ABCA12,SNHG31c.7759G>A (p.Asp2587Asn)
c.6805G>A (p.Asp2269Asn)
n.8059G>A
n.322-15162C>T
c.7768G>A (p.Asp2590Asn)
n.8257G>A
2g.214932664A>CCA431319035ABCA12,SNHG31c.7758T>G (p.Val2586=)
c.6804T>G (p.Val2268=)
n.8058T>G
n.322-15161A>C
c.7767T>G (p.Val2589=)
n.8256T>G
2g.214932664A>GCA431319036ABCA12,SNHG31c.7758T>C (p.Val2586=)
c.6804T>C (p.Val2268=)
n.8058T>C
n.322-15161A>G
c.7767T>C (p.Val2589=)
n.8256T>C
 gnomAD v4
2g.214932664A>TCA431319037ABCA12,SNHG31c.7758T>A (p.Val2586=)
c.6804T>A (p.Val2268=)
n.8058T>A
n.322-15161A>T
c.7767T>A (p.Val2589=)
n.8256T>A
2g.214932665A=CA1327141154ABCA12,SNHG31c.7757T= (p.Val2586=)
c.6803T= (p.Val2268=)
n.8057T=
n.322-15160A=
c.7766T= (p.Val2589=)
n.8255T=
2g.214932665A>CCA350792357ABCA12,SNHG31c.7757T>G (p.Val2586Gly)
c.6803T>G (p.Val2268Gly)
n.8057T>G
n.322-15160A>C
c.7766T>G (p.Val2589Gly)
n.8255T>G
2g.214932665A>GCA350792358ABCA12,SNHG31c.7757T>C (p.Val2586Ala)
c.6803T>C (p.Val2268Ala)
n.8057T>C
n.322-15160A>G
c.7766T>C (p.Val2589Ala)
n.8255T>C
2g.214932665A>TCA350792359ABCA12,SNHG31c.7757T>A (p.Val2586Asp)
c.6803T>A (p.Val2268Asp)
n.8057T>A
n.322-15160A>T
c.7766T>A (p.Val2589Asp)
n.8255T>A
 dbSNP
2g.214932666C>ACA350792360ABCA12,SNHG31c.7756G>T (p.Val2586Phe)
c.6802G>T (p.Val2268Phe)
n.8056G>T
n.322-15159C>A
c.7765G>T (p.Val2589Phe)
n.8254G>T
2g.214932666C=CA1327141156ABCA12,SNHG31c.7756G= (p.Val2586=)
c.6802G= (p.Val2268=)
n.8056G=
n.322-15159C=
c.7765G= (p.Val2589=)
n.8254G=
2g.214932666C>GCA350792361ABCA12,SNHG31c.7756G>C (p.Val2586Leu)
c.6802G>C (p.Val2268Leu)
n.8056G>C
n.322-15159C>G
c.7765G>C (p.Val2589Leu)
n.8254G>C
2g.214932666C>TCA350792362ABCA12,SNHG31c.7756G>A (p.Val2586Ile)
c.6802G>A (p.Val2268Ile)
n.8056G>A
n.322-15159C>T
c.7765G>A (p.Val2589Ile)
n.8254G>A
2g.214932667A=CA1327141158ABCA12,SNHG31c.7755T= (p.Ser2585=)
c.6801T= (p.Ser2267=)
n.8055T=
n.322-15158A=
c.7764T= (p.Ser2588=)
n.8253T=
2g.214932667A>CCA350792364ABCA12,SNHG31c.7755T>G (p.Ser2585Arg)
c.6801T>G (p.Ser2267Arg)
n.8055T>G
n.322-15158A>C
c.7764T>G (p.Ser2588Arg)
n.8253T>G
 gnomAD v4
2g.214932667A>GCA431319038ABCA12,SNHG31c.7755T>C (p.Ser2585=)
c.6801T>C (p.Ser2267=)
n.8055T>C
n.322-15158A>G
c.7764T>C (p.Ser2588=)
n.8253T>C
 gnomAD v4
2g.214932667A>TCA350792363ABCA12,SNHG31c.7755T>A (p.Ser2585Arg)
c.6801T>A (p.Ser2267Arg)
n.8055T>A
n.322-15158A>T
c.7764T>A (p.Ser2588Arg)
n.8253T>A
2g.214932668_214932671dupCA2090557ABCA12,SNHG31c.7752_7755dup (p.Val2586LysfsTer3)
c.6798_6801dup (p.Val2268LysfsTer3)
n.8052_8055dup
n.322-15157_322-15154dup
c.7761_7764dup (p.Val2589LysfsTer3)
n.8250_8253dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214932668C>ACA350792365ABCA12,SNHG31c.7754G>T (p.Ser2585Ile)
c.6800G>T (p.Ser2267Ile)
n.8054G>T
n.322-15157C>A
c.7763G>T (p.Ser2588Ile)
n.8252G>T
2g.214932668C=CA1327141166ABCA12,SNHG31c.7754G= (p.Ser2585=)
c.6800G= (p.Ser2267=)
n.8054G=
n.322-15157C=
c.7763G= (p.Ser2588=)
n.8252G=
2g.214932668C>GCA350792366ABCA12,SNHG31c.7754G>C (p.Ser2585Thr)
c.6800G>C (p.Ser2267Thr)
n.8054G>C
n.322-15157C>G
c.7763G>C (p.Ser2588Thr)
n.8252G>C
2g.214932668C>TCA350792367ABCA12,SNHG31c.7754G>A (p.Ser2585Asn)
c.6800G>A (p.Ser2267Asn)
n.8054G>A
n.322-15157C>T
c.7763G>A (p.Ser2588Asn)
n.8252G>A
2g.214932668_214932670dupCA2090558ABCA12,SNHG31c.7752_7754dup (p.Ile2584_Ser2585insArg)
c.6798_6800dup (p.Ile2266_Ser2267insArg)
n.8052_8054dup
n.322-15157_322-15155dup
c.7761_7763dup (p.Ile2587_Ser2588insArg)
n.8250_8252dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214932669T>ACA350792370ABCA12,SNHG31c.7753A>T (p.Ser2585Cys)
c.6799A>T (p.Ser2267Cys)
n.8053A>T
n.322-15156T>A
c.7762A>T (p.Ser2588Cys)
n.8251A>T
2g.214932669T>CCA350792368ABCA12,SNHG31c.7753A>G (p.Ser2585Gly)
c.6799A>G (p.Ser2267Gly)
n.8053A>G
n.322-15156T>C
c.7762A>G (p.Ser2588Gly)
n.8251A>G
2g.214932669T>GCA350792369ABCA12,SNHG31c.7753A>C (p.Ser2585Arg)
c.6799A>C (p.Ser2267Arg)
n.8053A>C
n.322-15156T>G
c.7762A>C (p.Ser2588Arg)
n.8251A>C
2g.214932669_214932670dupCA65501424ABCA12,SNHG31c.7752_7753dup (p.Ser2585LysfsTer23)
c.6798_6799dup (p.Ser2267LysfsTer?)
c.6798_6799dup (p.Ser2267LysfsTer23)
n.8052_8053dup
n.322-15156_322-15155dup
c.7761_7762dup (p.Ser2588LysfsTer23)
n.8250_8251dup
 dbSNP gnomAD v2 gnomAD v4
2g.214932670T>ACA431319039ABCA12,SNHG31c.7752A>T (p.Ile2584=)
c.6798A>T (p.Ile2266=)
n.8052A>T
n.322-15155T>A
c.7761A>T (p.Ile2587=)
n.8250A>T
2g.214932670T>CCA350792371ABCA12,SNHG31c.7752A>G (p.Ile2584Met)
c.6798A>G (p.Ile2266Met)
n.8052A>G
n.322-15155T>C
c.7761A>G (p.Ile2587Met)
n.8250A>G
2g.214932670T>GCA431319040ABCA12,SNHG31c.7752A>C (p.Ile2584=)
c.6798A>C (p.Ile2266=)
n.8052A>C
n.322-15155T>G
c.7761A>C (p.Ile2587=)
n.8250A>C
2g.214932671A>CCA350792372ABCA12,SNHG31c.7751T>G (p.Ile2584Arg)
c.6797T>G (p.Ile2266Arg)
n.8051T>G
n.322-15154A>C
c.7760T>G (p.Ile2587Arg)
n.8249T>G
2g.214932671A>GCA350792373ABCA12,SNHG31c.7751T>C (p.Ile2584Thr)
c.6797T>C (p.Ile2266Thr)
n.8051T>C
n.322-15154A>G
c.7760T>C (p.Ile2587Thr)
n.8249T>C
2g.214932671A>TCA350792374ABCA12,SNHG31c.7751T>A (p.Ile2584Lys)
c.6797T>A (p.Ile2266Lys)
n.8051T>A
n.322-15154A>T
c.7760T>A (p.Ile2587Lys)
n.8249T>A
2g.214932672T>ACA350792375ABCA12,SNHG31c.7750A>T (p.Ile2584Leu)
c.6796A>T (p.Ile2266Leu)
n.8050A>T
n.322-15153T>A
c.7759A>T (p.Ile2587Leu)
n.8248A>T
2g.214932672T>CCA2090559ABCA12,SNHG31c.7750A>G (p.Ile2584Val)
c.6796A>G (p.Ile2266Val)
n.8050A>G
n.322-15153T>C
c.7759A>G (p.Ile2587Val)
n.8248A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214932672T>GCA2090560ABCA12,SNHG31c.7750A>C (p.Ile2584Leu)
c.6796A>C (p.Ile2266Leu)
n.8050A>C
n.322-15153T>G
c.7759A>C (p.Ile2587Leu)
n.8248A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214932672T=CA1327141172ABCA12,SNHG31c.7750A= (p.Ile2584=)
c.6796A= (p.Ile2266=)
n.8050A=
n.322-15153T=
c.7759A= (p.Ile2587=)
n.8248A=
2g.214932673A=CA1327141176ABCA12,SNHG31c.7749T= (p.Thr2583=)
c.6795T= (p.Thr2265=)
n.8049T=
n.322-15152A=
c.7758T= (p.Thr2586=)
n.8247T=
2g.214932673A>CCA431319041ABCA12,SNHG31c.7749T>G (p.Thr2583=)
c.6795T>G (p.Thr2265=)
n.8049T>G
n.322-15152A>C
c.7758T>G (p.Thr2586=)
n.8247T>G
2g.214932673A>GCA431319042ABCA12,SNHG31c.7749T>C (p.Thr2583=)
c.6795T>C (p.Thr2265=)
n.8049T>C
n.322-15152A>G
c.7758T>C (p.Thr2586=)
n.8247T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.214932673A>TCA431319043ABCA12,SNHG31c.7749T>A (p.Thr2583=)
c.6795T>A (p.Thr2265=)
n.8049T>A
n.322-15152A>T
c.7758T>A (p.Thr2586=)
n.8247T>A
2g.214932674G>ACA350792376ABCA12,SNHG31c.7748C>T (p.Thr2583Ile)
c.6794C>T (p.Thr2265Ile)
n.8048C>T
n.322-15151G>A
c.7757C>T (p.Thr2586Ile)
n.8246C>T
2g.214932674G>CCA350792377ABCA12,SNHG31c.7748C>G (p.Thr2583Ser)
c.6794C>G (p.Thr2265Ser)
n.8048C>G
n.322-15151G>C
c.7757C>G (p.Thr2586Ser)
n.8246C>G
 gnomAD v4
2g.214932674G>TCA350792378ABCA12,SNHG31c.7748C>A (p.Thr2583Asn)
c.6794C>A (p.Thr2265Asn)
n.8048C>A
n.322-15151G>T
c.7757C>A (p.Thr2586Asn)
n.8246C>A
2g.214932675T>ACA350792379ABCA12,SNHG31c.7747A>T (p.Thr2583Ser)
c.6793A>T (p.Thr2265Ser)
n.8047A>T
n.322-15150T>A
c.7756A>T (p.Thr2586Ser)
n.8245A>T
2g.214932675T>CCA350792380ABCA12,SNHG31c.7747A>G (p.Thr2583Ala)
c.6793A>G (p.Thr2265Ala)
n.8047A>G
n.322-15150T>C
c.7756A>G (p.Thr2586Ala)
n.8245A>G
2g.214932675T>GCA350792381ABCA12,SNHG31c.7747A>C (p.Thr2583Pro)
c.6793A>C (p.Thr2265Pro)
n.8047A>C
n.322-15150T>G
c.7756A>C (p.Thr2586Pro)
n.8245A>C
2g.214932676G>ACA431319044ABCA12,SNHG31c.7746C>T (p.Ser2582=)
c.6792C>T (p.Ser2264=)
n.8046C>T
n.322-15149G>A
c.7755C>T (p.Ser2585=)
n.8244C>T
 dbSNP gnomAD v4
2g.214932676G>CCA431319045ABCA12,SNHG31c.7746C>G (p.Ser2582=)
c.6792C>G (p.Ser2264=)
n.8046C>G
n.322-15149G>C
c.7755C>G (p.Ser2585=)
n.8244C>G
2g.214932676G=CA1327141180ABCA12,SNHG31c.7746C= (p.Ser2582=)
c.6792C= (p.Ser2264=)
n.8046C=
n.322-15149G=
c.7755C= (p.Ser2585=)
n.8244C=
2g.214932676G>TCA431319046ABCA12,SNHG31c.7746C>A (p.Ser2582=)
c.6792C>A (p.Ser2264=)
n.8046C>A
n.322-15149G>T
c.7755C>A (p.Ser2585=)
n.8244C>A
2g.214932677G>ACA2090561ABCA12,SNHG31c.7745C>T (p.Ser2582Phe)
c.6791C>T (p.Ser2264Phe)
n.8045C>T
n.322-15148G>A
c.7754C>T (p.Ser2585Phe)
n.8243C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214932677G>CCA350792383ABCA12,SNHG31c.7745C>G (p.Ser2582Cys)
c.6791C>G (p.Ser2264Cys)
n.8045C>G
n.322-15148G>C
c.7754C>G (p.Ser2585Cys)
n.8243C>G
 dbSNP gnomAD v3 gnomAD v4
2g.214932677G=CA1327141183ABCA12,SNHG31c.7745C= (p.Ser2582=)
c.6791C= (p.Ser2264=)
n.8045C=
n.322-15148G=
c.7754C= (p.Ser2585=)
n.8243C=
2g.214932677G>TCA350792382ABCA12,SNHG31c.7745C>A (p.Ser2582Tyr)
c.6791C>A (p.Ser2264Tyr)
n.8045C>A
n.322-15148G>T
c.7754C>A (p.Ser2585Tyr)
n.8243C>A
2g.214932678A=CA1327141184ABCA12,SNHG31c.7744T= (p.Ser2582=)
c.6790T= (p.Ser2264=)
n.8044T=
n.322-15147A=
c.7753T= (p.Ser2585=)
n.8242T=
2g.214932678A>CCA350792384ABCA12,SNHG31c.7744T>G (p.Ser2582Ala)
c.6790T>G (p.Ser2264Ala)
n.8044T>G
n.322-15147A>C
c.7753T>G (p.Ser2585Ala)
n.8242T>G
2g.214932678A>GCA2090562ABCA12,SNHG31c.7744T>C (p.Ser2582Pro)
c.6790T>C (p.Ser2264Pro)
n.8044T>C
n.322-15147A>G
c.7753T>C (p.Ser2585Pro)
n.8242T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214932678A>TCA350792385ABCA12,SNHG31c.7744T>A (p.Ser2582Thr)
c.6790T>A (p.Ser2264Thr)
n.8044T>A
n.322-15147A>T
c.7753T>A (p.Ser2585Thr)
n.8242T>A
 gnomAD v4
2g.214932679A=CA1327141186ABCA12,SNHG31c.7743T= (p.Gly2581=)
c.6789T= (p.Gly2263=)
n.8043T=
n.322-15146A=
c.7752T= (p.Gly2584=)
n.8241T=
2g.214932679A>CCA431319047ABCA12,SNHG31c.7743T>G (p.Gly2581=)
c.6789T>G (p.Gly2263=)
n.8043T>G
n.322-15146A>C
c.7752T>G (p.Gly2584=)
n.8241T>G
2g.214932679A>GCA431319048ABCA12,SNHG31c.7743T>C (p.Gly2581=)
c.6789T>C (p.Gly2263=)
n.8043T>C
n.322-15146A>G
c.7752T>C (p.Gly2584=)
n.8241T>C
2g.214932679A>TCA65501425ABCA12,SNHG31c.7743T>A (p.Gly2581=)
c.6789T>A (p.Gly2263=)
n.8043T>A
n.322-15146A>T
c.7752T>A (p.Gly2584=)
n.8241T>A
 dbSNP gnomAD v4
2g.214932680C>ACA2090563ABCA12,SNHG31c.7742G>T (p.Gly2581Val)
c.6788G>T (p.Gly2263Val)
n.8042G>T
n.322-15145C>A
c.7751G>T (p.Gly2584Val)
n.8240G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214932680C=CA1327141189ABCA12,SNHG31c.7742G= (p.Gly2581=)
c.6788G= (p.Gly2263=)
n.8042G=
n.322-15145C=
c.7751G= (p.Gly2584=)
n.8240G=
2g.214932680C>GCA350792386ABCA12,SNHG31c.7742G>C (p.Gly2581Ala)
c.6788G>C (p.Gly2263Ala)
n.8042G>C
n.322-15145C>G
c.7751G>C (p.Gly2584Ala)
n.8240G>C
 gnomAD v4
2g.214932680C>TCA2090564ABCA12,SNHG31c.7742G>A (p.Gly2581Asp)
c.6788G>A (p.Gly2263Asp)
n.8042G>A
n.322-15145C>T
c.7751G>A (p.Gly2584Asp)
n.8240G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214932681C>ACA350792387ABCA12,SNHG31c.7741G>T (p.Gly2581Cys)
c.6787G>T (p.Gly2263Cys)
n.8041G>T
n.322-15144C>A
c.7750G>T (p.Gly2584Cys)
n.8239G>T
2g.214932681C>GCA350792388ABCA12,SNHG31c.7741G>C (p.Gly2581Arg)
c.6787G>C (p.Gly2263Arg)
n.8041G>C
n.322-15144C>G
c.7750G>C (p.Gly2584Arg)
n.8239G>C
2g.214932681C>TCA350792389ABCA12,SNHG31c.7741G>A (p.Gly2581Ser)
c.6787G>A (p.Gly2263Ser)
n.8041G>A
n.322-15144C>T
c.7750G>A (p.Gly2584Ser)
n.8239G>A
2g.214932682T>ACA350792390ABCA12,SNHG31c.7740A>T (p.Gln2580His)
c.6786A>T (p.Gln2262His)
n.8040A>T
n.322-15143T>A
c.7749A>T (p.Gln2583His)
n.8238A>T
2g.214932682T>CCA431319049ABCA12,SNHG31c.7740A>G (p.Gln2580=)
c.6786A>G (p.Gln2262=)
n.8040A>G
n.322-15143T>C
c.7749A>G (p.Gln2583=)
n.8238A>G
2g.214932682T>GCA350792391ABCA12,SNHG31c.7740A>C (p.Gln2580His)
c.6786A>C (p.Gln2262His)
n.8040A>C
n.322-15143T>G
c.7749A>C (p.Gln2583His)
n.8238A>C
2g.214932683T>ACA350792394ABCA12,SNHG31c.7739A>T (p.Gln2580Leu)
c.6785A>T (p.Gln2262Leu)
n.8039A>T
n.322-15142T>A
c.7748A>T (p.Gln2583Leu)
n.8237A>T
2g.214932683T>CCA350792393ABCA12,SNHG31c.7739A>G (p.Gln2580Arg)
c.6785A>G (p.Gln2262Arg)
n.8039A>G
n.322-15142T>C
c.7748A>G (p.Gln2583Arg)
n.8237A>G
2g.214932683T>GCA350792392ABCA12,SNHG31c.7739A>C (p.Gln2580Pro)
c.6785A>C (p.Gln2262Pro)
n.8039A>C
n.322-15142T>G
c.7748A>C (p.Gln2583Pro)
n.8237A>C
2g.214932684G>ACA350792395ABCA12,SNHG31c.7738C>T (p.Gln2580Ter)
c.6784C>T (p.Gln2262Ter)
n.8038C>T
n.322-15141G>A
c.7747C>T (p.Gln2583Ter)
n.8236C>T
2g.214932684G>CCA350792396ABCA12,SNHG31c.7738C>G (p.Gln2580Glu)
c.6784C>G (p.Gln2262Glu)
n.8038C>G
n.322-15141G>C
c.7747C>G (p.Gln2583Glu)
n.8236C>G
2g.214932684G>TCA350792397ABCA12,SNHG31c.7738C>A (p.Gln2580Lys)
c.6784C>A (p.Gln2262Lys)
n.8038C>A
n.322-15141G>T
c.7747C>A (p.Gln2583Lys)
n.8236C>A
2g.214932685G>ACA431319050ABCA12,SNHG31c.7737C>T (p.Ser2579=)
c.6783C>T (p.Ser2261=)
n.8037C>T
n.322-15140G>A
c.7746C>T (p.Ser2582=)
n.8235C>T
2g.214932685G>CCA350792398ABCA12,SNHG31c.7737C>G (p.Ser2579Arg)
c.6783C>G (p.Ser2261Arg)
n.8037C>G
n.322-15140G>C
c.7746C>G (p.Ser2582Arg)
n.8235C>G
2g.214932685G>TCA350792399ABCA12,SNHG31c.7737C>A (p.Ser2579Arg)
c.6783C>A (p.Ser2261Arg)
n.8037C>A
n.322-15140G>T
c.7746C>A (p.Ser2582Arg)
n.8235C>A
2g.214932686C>ACA350792400ABCA12,SNHG31c.7736G>T (p.Ser2579Ile)
c.6782G>T (p.Ser2261Ile)
n.8036G>T
n.322-15139C>A
c.7745G>T (p.Ser2582Ile)
n.8234G>T
2g.214932686C>GCA350792401ABCA12,SNHG31c.7736G>C (p.Ser2579Thr)
c.6782G>C (p.Ser2261Thr)
n.8036G>C
n.322-15139C>G
c.7745G>C (p.Ser2582Thr)
n.8234G>C
2g.214932686C>TCA350792402ABCA12,SNHG31c.7736G>A (p.Ser2579Asn)
c.6782G>A (p.Ser2261Asn)
n.8036G>A
n.322-15139C>T
c.7745G>A (p.Ser2582Asn)
n.8234G>A
 gnomAD v4
2g.214932687T>ACA350792403ABCA12,SNHG31c.7735A>T (p.Ser2579Cys)
c.6781A>T (p.Ser2261Cys)
n.8035A>T
n.322-15138T>A
c.7744A>T (p.Ser2582Cys)
n.8233A>T
2g.214932687T>CCA350792404ABCA12,SNHG31c.7735A>G (p.Ser2579Gly)
c.6781A>G (p.Ser2261Gly)
n.8035A>G
n.322-15138T>C
c.7744A>G (p.Ser2582Gly)
n.8233A>G
2g.214932687T>GCA350792405ABCA12,SNHG31c.7735A>C (p.Ser2579Arg)
c.6781A>C (p.Ser2261Arg)
n.8035A>C
n.322-15138T>G
c.7744A>C (p.Ser2582Arg)
n.8233A>C
2g.214932688G>ACA431319051ABCA12,SNHG31c.7734C>T (p.Ser2578=)
c.6780C>T (p.Ser2260=)
n.8034C>T
n.322-15137G>A
c.7743C>T (p.Ser2581=)
n.8232C>T
 dbSNP
2g.214932688G>CCA350792406ABCA12,SNHG31c.7734C>G (p.Ser2578Arg)
c.6780C>G (p.Ser2260Arg)
n.8034C>G
n.322-15137G>C
c.7743C>G (p.Ser2581Arg)
n.8232C>G
2g.214932688G=CA1327141191ABCA12,SNHG31c.7734C= (p.Ser2578=)
c.6780C= (p.Ser2260=)
n.8034C=
n.322-15137G=
c.7743C= (p.Ser2581=)
n.8232C=
2g.214932688G>TCA350792407ABCA12,SNHG31c.7734C>A (p.Ser2578Arg)
c.6780C>A (p.Ser2260Arg)
n.8034C>A
n.322-15137G>T
c.7743C>A (p.Ser2581Arg)
n.8232C>A
2g.214932689C>ACA350792409ABCA12,SNHG31c.7733G>T (p.Ser2578Ile)
c.6779G>T (p.Ser2260Ile)
n.8033G>T
n.322-15136C>A
c.7742G>T (p.Ser2581Ile)
n.8231G>T
2g.214932689C>GCA350792410ABCA12,SNHG31c.7733G>C (p.Ser2578Thr)
c.6779G>C (p.Ser2260Thr)
n.8033G>C
n.322-15136C>G
c.7742G>C (p.Ser2581Thr)
n.8231G>C
2g.214932689C>TCA350792408ABCA12,SNHG31c.7733G>A (p.Ser2578Asn)
c.6779G>A (p.Ser2260Asn)
n.8033G>A
n.322-15136C>T
c.7742G>A (p.Ser2581Asn)
n.8231G>A
 COSMIC COSMIC
2g.214932689_214932694delinsCTGGTACA1327141193ABCA12,SNHG31c.7728_7733delinsTACCAG (p.Asp2576=)
c.6774_6779delinsTACCAG (p.Asp2258=)
n.8028_8033delinsTACCAG
n.322-15136_322-15131delinsCTGGTA
c.7737_7742delinsTACCAG (p.Asp2579=)
n.8226_8231delinsTACCAG
2g.214932690T>ACA350792412ABCA12,SNHG31c.7732A>T (p.Ser2578Cys)
c.6778A>T (p.Ser2260Cys)
n.8032A>T
n.322-15135T>A
c.7741A>T (p.Ser2581Cys)
n.8230A>T
 gnomAD v4
2g.214932690T>CCA350792411ABCA12,SNHG31c.7732A>G (p.Ser2578Gly)
c.6778A>G (p.Ser2260Gly)
n.8032A>G
n.322-15135T>C
c.7741A>G (p.Ser2581Gly)
n.8230A>G
2g.214932690T>GCA350792413ABCA12,SNHG31c.7732A>C (p.Ser2578Arg)
c.6778A>C (p.Ser2260Arg)
n.8032A>C
n.322-15135T>G
c.7741A>C (p.Ser2581Arg)
n.8230A>C
2g.214932691_214932695delCA431319052ABCA12,SNHG31c.7728_7732del (p.Asp2576GlufsTer10)
c.6774_6778del (p.Asp2258GlufsTer10)
n.8028_8032del
n.322-15134_322-15130del
c.7737_7741del (p.Asp2579GlufsTer10)
n.8226_8230del
 dbSNP gnomAD v3 gnomAD v4
2g.214932691G>ACA2090565ABCA12,SNHG31c.7731C>T (p.Thr2577=)
c.6777C>T (p.Thr2259=)
n.8031C>T
n.322-15134G>A
c.7740C>T (p.Thr2580=)
n.8229C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214932691G>CCA431319054ABCA12,SNHG31c.7731C>G (p.Thr2577=)
c.6777C>G (p.Thr2259=)
n.8031C>G
n.322-15134G>C
c.7740C>G (p.Thr2580=)
n.8229C>G
 gnomAD v4
2g.214932691G=CA1327141200ABCA12,SNHG31c.7731C= (p.Thr2577=)
c.6777C= (p.Thr2259=)
n.8031C=
n.322-15134G=
c.7740C= (p.Thr2580=)
n.8229C=
2g.214932691G>TCA431319053ABCA12,SNHG31c.7731C>A (p.Thr2577=)
c.6777C>A (p.Thr2259=)
n.8031C>A
n.322-15134G>T
c.7740C>A (p.Thr2580=)
n.8229C>A
 gnomAD v4
2g.214932692G>ACA350792416ABCA12,SNHG31c.7730C>T (p.Thr2577Ile)
c.6776C>T (p.Thr2259Ile)
n.8030C>T
n.322-15133G>A
c.7739C>T (p.Thr2580Ile)
n.8228C>T
 dbSNP
2g.214932692G>CCA350792414ABCA12,SNHG31c.7730C>G (p.Thr2577Ser)
c.6776C>G (p.Thr2259Ser)
n.8030C>G
n.322-15133G>C
c.7739C>G (p.Thr2580Ser)
n.8228C>G
2g.214932692G=CA1327141203ABCA12,SNHG31c.7730C= (p.Thr2577=)
c.6776C= (p.Thr2259=)
n.8030C=
n.322-15133G=
c.7739C= (p.Thr2580=)
n.8228C=
2g.214932692G>TCA350792415ABCA12,SNHG31c.7730C>A (p.Thr2577Asn)
c.6776C>A (p.Thr2259Asn)
n.8030C>A
n.322-15133G>T
c.7739C>A (p.Thr2580Asn)
n.8228C>A
2g.214932693T>ACA350792417ABCA12,SNHG31c.7729A>T (p.Thr2577Ser)
c.6775A>T (p.Thr2259Ser)
n.8029A>T
n.322-15132T>A
c.7738A>T (p.Thr2580Ser)
n.8227A>T
2g.214932693T>CCA350792418ABCA12,SNHG31c.7729A>G (p.Thr2577Ala)
c.6775A>G (p.Thr2259Ala)
n.8029A>G
n.322-15132T>C
c.7738A>G (p.Thr2580Ala)
n.8227A>G
 gnomAD v4
2g.214932693T>GCA350792419ABCA12,SNHG31c.7729A>C (p.Thr2577Pro)
c.6775A>C (p.Thr2259Pro)
n.8029A>C
n.322-15132T>G
c.7738A>C (p.Thr2580Pro)
n.8227A>C
2g.214932694A=CA1327141207ABCA12,SNHG31c.7728T= (p.Asp2576=)
c.6774T= (p.Asp2258=)
n.8028T=
n.322-15131A=
c.7737T= (p.Asp2579=)
n.8226T=
2g.214932694A>CCA350792420ABCA12,SNHG31c.7728T>G (p.Asp2576Glu)
c.6774T>G (p.Asp2258Glu)
n.8028T>G
n.322-15131A>C
c.7737T>G (p.Asp2579Glu)
n.8226T>G
2g.214932694A>GCA2090566ABCA12,SNHG31c.7728T>C (p.Asp2576=)
c.6774T>C (p.Asp2258=)
n.8028T>C
n.322-15131A>G
c.7737T>C (p.Asp2579=)
n.8226T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214932694A>TCA350792421ABCA12,SNHG31c.7728T>A (p.Asp2576Glu)
c.6774T>A (p.Asp2258Glu)
n.8028T>A
n.322-15131A>T
c.7737T>A (p.Asp2579Glu)
n.8226T>A
2g.214932695T>ACA350792422ABCA12,SNHG31c.7727A>T (p.Asp2576Val)
c.6773A>T (p.Asp2258Val)
n.8027A>T
n.322-15130T>A
c.7736A>T (p.Asp2579Val)
n.8225A>T
2g.214932695T>CCA350792423ABCA12,SNHG31c.7727A>G (p.Asp2576Gly)
c.6773A>G (p.Asp2258Gly)
n.8027A>G
n.322-15130T>C
c.7736A>G (p.Asp2579Gly)
n.8225A>G
2g.214932695T>GCA350792424ABCA12,SNHG31c.7727A>C (p.Asp2576Ala)
c.6773A>C (p.Asp2258Ala)
n.8027A>C
n.322-15130T>G
c.7736A>C (p.Asp2579Ala)
n.8225A>C
2g.214932695_214932700delinsTCAGCACA1327141212ABCA12,SNHG31c.7722_7727delinsTGCTGA (p.Thr2574=)
c.6768_6773delinsTGCTGA (p.Thr2256=)
n.8022_8027delinsTGCTGA
n.322-15130_322-15125delinsTCAGCA
c.7731_7736delinsTGCTGA (p.Thr2577=)
n.8220_8225delinsTGCTGA
2g.214932698_214932706delCA2662974130ABCA12,SNHG31c.7719_7727del (p.Glu2573_Ala2575del)
c.6765_6773del (p.Glu2255_Ala2257del)
n.8019_8027del
n.322-15127_322-15119del
c.7728_7736del (p.Glu2576_Ala2578del)
n.8217_8225del
 gnomAD v4
2g.214932696C>ACA350792427ABCA12,SNHG31c.7726G>T (p.Asp2576Tyr)
c.6772G>T (p.Asp2258Tyr)
n.8026G>T
n.322-15129C>A
c.7735G>T (p.Asp2579Tyr)
n.8224G>T
2g.214932696C>GCA350792426ABCA12,SNHG31c.7726G>C (p.Asp2576His)
c.6772G>C (p.Asp2258His)
n.8026G>C
n.322-15129C>G
c.7735G>C (p.Asp2579His)
n.8224G>C
2g.214932696C>TCA350792425ABCA12,SNHG31c.7726G>A (p.Asp2576Asn)
c.6772G>A (p.Asp2258Asn)
n.8026G>A
n.322-15129C>T
c.7735G>A (p.Asp2579Asn)
n.8224G>A
2g.214932696_214932700delCA1327141216ABCA12,SNHG31c.7722_7726del (p.Ala2575TyrfsTer11)
c.6768_6772del (p.Ala2257TyrfsTer11)
n.8022_8026del
n.322-15129_322-15125del
c.7731_7735del (p.Ala2578TyrfsTer11)
n.8220_8224del
 dbSNP
2g.214932697A=CA1327141219ABCA12,SNHG31c.7725T= (p.Ala2575=)
c.6771T= (p.Ala2257=)
n.8025T=
n.322-15128A=
c.7734T= (p.Ala2578=)
n.8223T=
2g.214932697A>CCA431319056ABCA12,SNHG31c.7725T>G (p.Ala2575=)
c.6771T>G (p.Ala2257=)
n.8025T>G
n.322-15128A>C
c.7734T>G (p.Ala2578=)
n.8223T>G
2g.214932697A>GCA431319057ABCA12,SNHG31c.7725T>C (p.Ala2575=)
c.6771T>C (p.Ala2257=)
n.8025T>C
n.322-15128A>G
c.7734T>C (p.Ala2578=)
n.8223T>C
 dbSNP gnomAD v2 gnomAD v4
2g.214932697A>TCA431319058ABCA12,SNHG31c.7725T>A (p.Ala2575=)
c.6771T>A (p.Ala2257=)
n.8025T>A
n.322-15128A>T
c.7734T>A (p.Ala2578=)
n.8223T>A
 gnomAD v4
2g.214932698G>ACA350792428ABCA12,SNHG31c.7724C>T (p.Ala2575Val)
c.6770C>T (p.Ala2257Val)
n.8024C>T
n.322-15127G>A
c.7733C>T (p.Ala2578Val)
n.8222C>T
2g.214932698G>CCA350792429ABCA12,SNHG31c.7724C>G (p.Ala2575Gly)
c.6770C>G (p.Ala2257Gly)
n.8024C>G
n.322-15127G>C
c.7733C>G (p.Ala2578Gly)
n.8222C>G
2g.214932698G>TCA350792430ABCA12,SNHG31c.7724C>A (p.Ala2575Asp)
c.6770C>A (p.Ala2257Asp)
n.8024C>A
n.322-15127G>T
c.7733C>A (p.Ala2578Asp)
n.8222C>A
2g.214932699C>ACA65501426ABCA12,SNHG31c.7723G>T (p.Ala2575Ser)
c.6769G>T (p.Ala2257Ser)
n.8023G>T
n.322-15126C>A
c.7732G>T (p.Ala2578Ser)
n.8221G>T
 dbSNP gnomAD v4
2g.214932699C=CA1327141223ABCA12,SNHG31c.7723G= (p.Ala2575=)
c.6769G= (p.Ala2257=)
n.8023G=
n.322-15126C=
c.7732G= (p.Ala2578=)
n.8221G=
2g.214932699C>GCA350792431ABCA12,SNHG31c.7723G>C (p.Ala2575Pro)
c.6769G>C (p.Ala2257Pro)
n.8023G>C
n.322-15126C>G
c.7732G>C (p.Ala2578Pro)
n.8221G>C
2g.214932699C>TCA350792432ABCA12,SNHG31c.7723G>A (p.Ala2575Thr)
c.6769G>A (p.Ala2257Thr)
n.8023G>A
n.322-15126C>T
c.7732G>A (p.Ala2578Thr)
n.8221G>A
2g.214932700A>CCA431319059ABCA12,SNHG31c.7722T>G (p.Thr2574=)
c.6768T>G (p.Thr2256=)
n.8022T>G
n.322-15125A>C
c.7731T>G (p.Thr2577=)
n.8220T>G
2g.214932700A>GCA431319060ABCA12,SNHG31c.7722T>C (p.Thr2574=)
c.6768T>C (p.Thr2256=)
n.8022T>C
n.322-15125A>G
c.7731T>C (p.Thr2577=)
n.8220T>C
2g.214932700A>TCA431319061ABCA12,SNHG31c.7722T>A (p.Thr2574=)
c.6768T>A (p.Thr2256=)
n.8022T>A
n.322-15125A>T
c.7731T>A (p.Thr2577=)
n.8220T>A
2g.214932701_214932702insCCAAGCA2830544462ABCA12,SNHG31c.7722_7723insTGGCT (p.Ala2575TrpfsTer12)
c.6768_6769insTGGCT (p.Ala2257TrpfsTer12)
n.8022_8023insTGGCT
n.322-15124_322-15123insCCAAG
c.7731_7732insTGGCT (p.Ala2578TrpfsTer12)
n.8220_8221insTGGCT
2g.214932701G>ACA350792433ABCA12,SNHG31c.7721C>T (p.Thr2574Ile)
c.6767C>T (p.Thr2256Ile)
n.8021C>T
n.322-15124G>A
c.7730C>T (p.Thr2577Ile)
n.8219C>T
2g.214932701G>CCA350792434ABCA12,SNHG31c.7721C>G (p.Thr2574Ser)
c.6767C>G (p.Thr2256Ser)
n.8021C>G
n.322-15124G>C
c.7730C>G (p.Thr2577Ser)
n.8219C>G
2g.214932701G>TCA350792435ABCA12,SNHG31c.7721C>A (p.Thr2574Asn)
c.6767C>A (p.Thr2256Asn)
n.8021C>A
n.322-15124G>T
c.7730C>A (p.Thr2577Asn)
n.8219C>A
2g.214932702T>ACA2090567ABCA12,SNHG31c.7720A>T (p.Thr2574Ser)
c.6766A>T (p.Thr2256Ser)
n.8020A>T
n.322-15123T>A
c.7729A>T (p.Thr2577Ser)
n.8218A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214932702T>CCA350792436ABCA12,SNHG31c.7720A>G (p.Thr2574Ala)
c.6766A>G (p.Thr2256Ala)
n.8020A>G
n.322-15123T>C
c.7729A>G (p.Thr2577Ala)
n.8218A>G
2g.214932702T>GCA350792437ABCA12,SNHG31c.7720A>C (p.Thr2574Pro)
c.6766A>C (p.Thr2256Pro)
n.8020A>C
n.322-15123T>G
c.7729A>C (p.Thr2577Pro)
n.8218A>C
2g.214932702T=CA1327140417ABCA12,SNHG31c.7720A= (p.Thr2574=)
c.6766A= (p.Thr2256=)
n.8020A=
n.322-15123T=
c.7729A= (p.Thr2577=)
n.8218A=
2g.214932703T>ACA350792439ABCA12,SNHG31c.7719A>T (p.Glu2573Asp)
c.6765A>T (p.Glu2255Asp)
n.8019A>T
n.322-15122T>A
c.7728A>T (p.Glu2576Asp)
n.8217A>T
2g.214932703T>CCA431319062ABCA12,SNHG31c.7719A>G (p.Glu2573=)
c.6765A>G (p.Glu2255=)
n.8019A>G
n.322-15122T>C
c.7728A>G (p.Glu2576=)
n.8217A>G
2g.214932703T>GCA350792438ABCA12,SNHG31c.7719A>C (p.Glu2573Asp)
c.6765A>C (p.Glu2255Asp)
n.8019A>C
n.322-15122T>G
c.7728A>C (p.Glu2576Asp)
n.8217A>C
2g.214932704T>ACA350792440ABCA12,SNHG31c.7718A>T (p.Glu2573Val)
c.6764A>T (p.Glu2255Val)
n.8018A>T
n.322-15121T>A
c.7727A>T (p.Glu2576Val)
n.8216A>T
2g.214932704T>CCA350792441ABCA12,SNHG31c.7718A>G (p.Glu2573Gly)
c.6764A>G (p.Glu2255Gly)
n.8018A>G
n.322-15121T>C
c.7727A>G (p.Glu2576Gly)
n.8216A>G
2g.214932704T>GCA350792442ABCA12,SNHG31c.7718A>C (p.Glu2573Ala)
c.6764A>C (p.Glu2255Ala)
n.8018A>C
n.322-15121T>G
c.7727A>C (p.Glu2576Ala)
n.8216A>C
2g.214932705C>ACA350792443ABCA12,SNHG31c.7717G>T (p.Glu2573Ter)
c.6763G>T (p.Glu2255Ter)
n.8017G>T
n.322-15120C>A
c.7726G>T (p.Glu2576Ter)
n.8215G>T
2g.214932705C>GCA350792444ABCA12,SNHG31c.7717G>C (p.Glu2573Gln)
c.6763G>C (p.Glu2255Gln)
n.8017G>C
n.322-15120C>G
c.7726G>C (p.Glu2576Gln)
n.8215G>C
2g.214932705C>TCA350792445ABCA12,SNHG31c.7717G>A (p.Glu2573Lys)
c.6763G>A (p.Glu2255Lys)
n.8017G>A
n.322-15120C>T
c.7726G>A (p.Glu2576Lys)
n.8215G>A
 gnomAD v4
2g.214932706A=CA1327140418ABCA12,SNHG31c.7716T= (p.Tyr2572=)
c.6762T= (p.Tyr2254=)
n.8016T=
n.322-15119A=
c.7725T= (p.Tyr2575=)
n.8214T=
2g.214932706A>CCA350792446ABCA12,SNHG31c.7716T>G (p.Tyr2572Ter)
c.6762T>G (p.Tyr2254Ter)
n.8016T>G
n.322-15119A>C
c.7725T>G (p.Tyr2575Ter)
n.8214T>G
2g.214932706A>GCA2090568ABCA12,SNHG31c.7716T>C (p.Tyr2572=)
c.6762T>C (p.Tyr2254=)
n.8016T>C
n.322-15119A>G
c.7725T>C (p.Tyr2575=)
n.8214T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214932706A>TCA350792447ABCA12,SNHG31c.7716T>A (p.Tyr2572Ter)
c.6762T>A (p.Tyr2254Ter)
n.8016T>A
n.322-15119A>T
c.7725T>A (p.Tyr2575Ter)
n.8214T>A
2g.214932707T>ACA350792448ABCA12,SNHG31c.7715A>T (p.Tyr2572Phe)
c.6761A>T (p.Tyr2254Phe)
n.8015A>T
n.322-15118T>A
c.7724A>T (p.Tyr2575Phe)
n.8213A>T
2g.214932707T>CCA2090569ABCA12,SNHG31c.7715A>G (p.Tyr2572Cys)
c.6761A>G (p.Tyr2254Cys)
n.8015A>G
n.322-15118T>C
c.7724A>G (p.Tyr2575Cys)
n.8213A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214932707T>GCA350792449ABCA12,SNHG31c.7715A>C (p.Tyr2572Ser)
c.6761A>C (p.Tyr2254Ser)
n.8015A>C
n.322-15118T>G
c.7724A>C (p.Tyr2575Ser)
n.8213A>C
2g.214932707T=CA1327140420ABCA12,SNHG31c.7715A= (p.Tyr2572=)
c.6761A= (p.Tyr2254=)
n.8015A=
n.322-15118T=
c.7724A= (p.Tyr2575=)
n.8213A=
2g.214932708A=CA1327140421ABCA12,SNHG31c.7714T= (p.Tyr2572=)
c.6760T= (p.Tyr2254=)
n.8014T=
n.322-15117A=
c.7723T= (p.Tyr2575=)
n.8212T=
2g.214932708A>CCA350792451ABCA12,SNHG31c.7714T>G (p.Tyr2572Asp)
c.6760T>G (p.Tyr2254Asp)
n.8014T>G
n.322-15117A>C
c.7723T>G (p.Tyr2575Asp)
n.8212T>G
2g.214932708A>GCA2090570ABCA12,SNHG31c.7714T>C (p.Tyr2572His)
c.6760T>C (p.Tyr2254His)
n.8014T>C
n.322-15117A>G
c.7723T>C (p.Tyr2575His)
n.8212T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214932708A>TCA350792450ABCA12,SNHG31c.7714T>A (p.Tyr2572Asn)
c.6760T>A (p.Tyr2254Asn)
n.8014T>A
n.322-15117A>T
c.7723T>A (p.Tyr2575Asn)
n.8212T>A
2g.214932709G>ACA431319063ABCA12,SNHG31c.7713C>T (p.Ser2571=)
c.6759C>T (p.Ser2253=)
n.8013C>T
n.322-15116G>A
c.7722C>T (p.Ser2574=)
n.8211C>T
 dbSNP gnomAD v2 gnomAD v4
2g.214932709G>CCA431319064ABCA12,SNHG31c.7713C>G (p.Ser2571=)
c.6759C>G (p.Ser2253=)
n.8013C>G
n.322-15116G>C
c.7722C>G (p.Ser2574=)
n.8211C>G
2g.214932709G=CA1327140422ABCA12,SNHG31c.7713C= (p.Ser2571=)
c.6759C= (p.Ser2253=)
n.8013C=
n.322-15116G=
c.7722C= (p.Ser2574=)
n.8211C=
2g.214932709G>TCA431319065ABCA12,SNHG31c.7713C>A (p.Ser2571=)
c.6759C>A (p.Ser2253=)
n.8013C>A
n.322-15116G>T
c.7722C>A (p.Ser2574=)
n.8211C>A
2g.214932710G>ACA350792452ABCA12,SNHG31c.7712C>T (p.Ser2571Phe)
c.6758C>T (p.Ser2253Phe)
n.8012C>T
n.322-15115G>A
c.7721C>T (p.Ser2574Phe)
n.8210C>T
2g.214932710G>CCA350792453ABCA12,SNHG31c.7712C>G (p.Ser2571Cys)
c.6758C>G (p.Ser2253Cys)
n.8012C>G
n.322-15115G>C
c.7721C>G (p.Ser2574Cys)
n.8210C>G
2g.214932710G>TCA350792454ABCA12,SNHG31c.7712C>A (p.Ser2571Tyr)
c.6758C>A (p.Ser2253Tyr)
n.8012C>A
n.322-15115G>T
c.7721C>A (p.Ser2574Tyr)
n.8210C>A
2g.214932711A>CCA350792455ABCA12,SNHG31c.7711T>G (p.Ser2571Ala)
c.6757T>G (p.Ser2253Ala)
n.8011T>G
n.322-15114A>C
c.7720T>G (p.Ser2574Ala)
n.8209T>G
2g.214932711A>GCA350792456ABCA12,SNHG31c.7711T>C (p.Ser2571Pro)
c.6757T>C (p.Ser2253Pro)
n.8011T>C
n.322-15114A>G
c.7720T>C (p.Ser2574Pro)
n.8209T>C
2g.214932711A>TCA350792457ABCA12,SNHG31c.7711T>A (p.Ser2571Thr)
c.6757T>A (p.Ser2253Thr)
n.8011T>A
n.322-15114A>T
c.7720T>A (p.Ser2574Thr)
n.8209T>A
2g.214932712C>ACA350792458ABCA12,SNHG31c.7710G>T (p.Lys2570Asn)
c.6756G>T (p.Lys2252Asn)
n.8010G>T
n.322-15113C>A
c.7719G>T (p.Lys2573Asn)
n.8208G>T
2g.214932712C=CA1327140423ABCA12,SNHG31c.7710G= (p.Lys2570=)
c.6756G= (p.Lys2252=)
n.8010G=
n.322-15113C=
c.7719G= (p.Lys2573=)
n.8208G=
2g.214932712C>GCA350792459ABCA12,SNHG31c.7710G>C (p.Lys2570Asn)
c.6756G>C (p.Lys2252Asn)
n.8010G>C
n.322-15113C>G
c.7719G>C (p.Lys2573Asn)
n.8208G>C
2g.214932712C>TCA431319066ABCA12,SNHG31c.7710G>A (p.Lys2570=)
c.6756G>A (p.Lys2252=)
n.8010G>A
n.322-15113C>T
c.7719G>A (p.Lys2573=)
n.8208G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.214932713T>ACA350792460ABCA12,SNHG31c.7709A>T (p.Lys2570Met)
c.6755A>T (p.Lys2252Met)
n.8009A>T
n.322-15112T>A
c.7718A>T (p.Lys2573Met)
n.8207A>T
2g.214932713T>CCA350792461ABCA12,SNHG31c.7709A>G (p.Lys2570Arg)
c.6755A>G (p.Lys2252Arg)
n.8009A>G
n.322-15112T>C
c.7718A>G (p.Lys2573Arg)
n.8207A>G
2g.214932713T>GCA2090571ABCA12,SNHG31c.7709A>C (p.Lys2570Thr)
c.6755A>C (p.Lys2252Thr)
n.8009A>C
n.322-15112T>G
c.7718A>C (p.Lys2573Thr)
n.8207A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214932713T=CA1327140424ABCA12,SNHG31c.7709A= (p.Lys2570=)
c.6755A= (p.Lys2252=)
n.8009A=
n.322-15112T=
c.7718A= (p.Lys2573=)
n.8207A=
2g.214932714T>ACA350792462ABCA12,SNHG31c.7708A>T (p.Lys2570Ter)
c.6754A>T (p.Lys2252Ter)
n.8008A>T
n.322-15111T>A
c.7717A>T (p.Lys2573Ter)
n.8206A>T
2g.214932714T>CCA2090572ABCA12,SNHG31c.7708A>G (p.Lys2570Glu)
c.6754A>G (p.Lys2252Glu)
n.8008A>G
n.322-15111T>C
c.7717A>G (p.Lys2573Glu)
n.8206A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214932714T>GCA350792463ABCA12,SNHG31c.7708A>C (p.Lys2570Gln)
c.6754A>C (p.Lys2252Gln)
n.8008A>C
n.322-15111T>G
c.7717A>C (p.Lys2573Gln)
n.8206A>C
2g.214932714T=CA1327140425ABCA12,SNHG31c.7708A= (p.Lys2570=)
c.6754A= (p.Lys2252=)
n.8008A=
n.322-15111T=
c.7717A= (p.Lys2573=)
n.8206A=
2g.214932714_214932715insACA2662974131ABCA12,SNHG31c.7707_7708insT (p.Lys2570Ter)
c.6753_6754insT (p.Lys2252Ter)
n.8007_8008insT
n.322-15111_322-15110insA
c.7716_7717insT (p.Lys2573Ter)
n.8205_8206insT
 gnomAD v4
2g.214932715C>ACA350792464ABCA12,SNHG31c.7707G>T (p.Gln2569His)
c.6753G>T (p.Gln2251His)
n.8007G>T
n.322-15110C>A
c.7716G>T (p.Gln2572His)
n.8205G>T
2g.214932715C>GCA350792465ABCA12,SNHG31c.7707G>C (p.Gln2569His)
c.6753G>C (p.Gln2251His)
n.8007G>C
n.322-15110C>G
c.7716G>C (p.Gln2572His)
n.8205G>C
2g.214932715C>TCA431319067ABCA12,SNHG31c.7707G>A (p.Gln2569=)
c.6753G>A (p.Gln2251=)
n.8007G>A
n.322-15110C>T
c.7716G>A (p.Gln2572=)
n.8205G>A
2g.214932716T>ACA350792466ABCA12,SNHG31c.7706A>T (p.Gln2569Leu)
c.6752A>T (p.Gln2251Leu)
n.8006A>T
n.322-15109T>A
c.7715A>T (p.Gln2572Leu)
n.8204A>T
 gnomAD v4
2g.214932716T>CCA350792468ABCA12,SNHG31c.7706A>G (p.Gln2569Arg)
c.6752A>G (p.Gln2251Arg)
n.8006A>G
n.322-15109T>C
c.7715A>G (p.Gln2572Arg)
n.8204A>G
2g.214932716T>GCA350792467ABCA12,SNHG31c.7706A>C (p.Gln2569Pro)
c.6752A>C (p.Gln2251Pro)
n.8006A>C
n.322-15109T>G
c.7715A>C (p.Gln2572Pro)
n.8204A>C
2g.214932717G>ACA350792469ABCA12,SNHG31c.7705C>T (p.Gln2569Ter)
c.6751C>T (p.Gln2251Ter)
n.8005C>T
n.322-15108G>A
c.7714C>T (p.Gln2572Ter)
n.8203C>T
 dbSNP gnomAD v3 gnomAD v4
2g.214932717G>CCA350792470ABCA12,SNHG31c.7705C>G (p.Gln2569Glu)
c.6751C>G (p.Gln2251Glu)
n.8005C>G
n.322-15108G>C
c.7714C>G (p.Gln2572Glu)
n.8203C>G
2g.214932717G=CA1327140426ABCA12,SNHG31c.7705C= (p.Gln2569=)
c.6751C= (p.Gln2251=)
n.8005C=
n.322-15108G=
c.7714C= (p.Gln2572=)
n.8203C=
2g.214932717G>TCA350792471ABCA12,SNHG31c.7705C>A (p.Gln2569Lys)
c.6751C>A (p.Gln2251Lys)
n.8005C>A
n.322-15108G>T
c.7714C>A (p.Gln2572Lys)
n.8203C>A
2g.214932718delCA431319068ABCA12,SNHG31c.7705del (p.Gln2569ArgfsTer16)
c.6751del (p.Gln2251ArgfsTer16)
n.8005del
n.322-15107del
c.7714del (p.Gln2572ArgfsTer16)
n.8203del
 COSMIC
2g.214932718G>ACA431319069ABCA12,SNHG31c.7704C>T (p.Asp2568=)
c.6750C>T (p.Asp2250=)
n.8004C>T
n.322-15107G>A
c.7713C>T (p.Asp2571=)
n.8202C>T
 gnomAD v4
2g.214932718G>CCA350792472ABCA12,SNHG31c.7704C>G (p.Asp2568Glu)
c.6750C>G (p.Asp2250Glu)
n.8004C>G
n.322-15107G>C
c.7713C>G (p.Asp2571Glu)
n.8202C>G
2g.214932718G=CA1327140427ABCA12,SNHG31c.7704C= (p.Asp2568=)
c.6750C= (p.Asp2250=)
n.8004C=
n.322-15107G=
c.7713C= (p.Asp2571=)
n.8202C=
2g.214932718G>TCA350792473ABCA12,SNHG31c.7704C>A (p.Asp2568Glu)
c.6750C>A (p.Asp2250Glu)
n.8004C>A
n.322-15107G>T
c.7713C>A (p.Asp2571Glu)
n.8202C>A
2g.214932719T>ACA350792474ABCA12,SNHG31c.7703A>T (p.Asp2568Val)
c.6749A>T (p.Asp2250Val)
n.8003A>T
n.322-15106T>A
c.7712A>T (p.Asp2571Val)
n.8201A>T
2g.214932719T>CCA350792475ABCA12,SNHG31c.7703A>G (p.Asp2568Gly)
c.6749A>G (p.Asp2250Gly)
n.8003A>G
n.322-15106T>C
c.7712A>G (p.Asp2571Gly)
n.8201A>G
 dbSNP
2g.214932719T>GCA350792476ABCA12,SNHG31c.7703A>C (p.Asp2568Ala)
c.6749A>C (p.Asp2250Ala)
n.8003A>C
n.322-15106T>G
c.7712A>C (p.Asp2571Ala)
n.8201A>C
2g.214932719T=CA1327140428ABCA12,SNHG31c.7703A= (p.Asp2568=)
c.6749A= (p.Asp2250=)
n.8003A=
n.322-15106T=
c.7712A= (p.Asp2571=)
n.8201A=
2g.214932720_214932723dupCA2090573ABCA12,SNHG31c.7700_7703dup (p.Asp2568GlufsTer7)
c.6746_6749dup (p.Asp2250GlufsTer7)
n.8000_8003dup
n.322-15105_322-15102dup
c.7709_7712dup (p.Asp2571GlufsTer7)
n.8198_8201dup
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214932720C>ACA350792477ABCA12,SNHG31c.7702G>T (p.Asp2568Tyr)
c.6748G>T (p.Asp2250Tyr)
n.8002G>T
n.322-15105C>A
c.7711G>T (p.Asp2571Tyr)
n.8200G>T
2g.214932720C>GCA350792478ABCA12,SNHG31c.7702G>C (p.Asp2568His)
c.6748G>C (p.Asp2250His)
n.8002G>C
n.322-15105C>G
c.7711G>C (p.Asp2571His)
n.8200G>C
2g.214932720C>TCA350792479ABCA12,SNHG31c.7702G>A (p.Asp2568Asn)
c.6748G>A (p.Asp2250Asn)
n.8002G>A
n.322-15105C>T
c.7711G>A (p.Asp2571Asn)
n.8200G>A
2g.214932721T>ACA350792481ABCA12,SNHG31c.7701A>T (p.Lys2567Asn)
c.6747A>T (p.Lys2249Asn)
n.8001A>T
n.322-15104T>A
c.7710A>T (p.Lys2570Asn)
n.8199A>T
2g.214932721T>CCA431319070ABCA12,SNHG31c.7701A>G (p.Lys2567=)
c.6747A>G (p.Lys2249=)
n.8001A>G
n.322-15104T>C
c.7710A>G (p.Lys2570=)
n.8199A>G
2g.214932721T>GCA350792480ABCA12,SNHG31c.7701A>C (p.Lys2567Asn)
c.6747A>C (p.Lys2249Asn)
n.8001A>C
n.322-15104T>G
c.7710A>C (p.Lys2570Asn)
n.8199A>C
2g.214932722_214932723dupCA2754208598ABCA12,SNHG31c.7700_7701dup (p.Asp2568LysfsTer18)
c.6746_6747dup (p.Asp2250LysfsTer18)
n.8000_8001dup
n.322-15103_322-15102dup
c.7709_7710dup (p.Asp2571LysfsTer18)
n.8198_8199dup
2g.214932722T>ACA350792482ABCA12,SNHG31c.7700A>T (p.Lys2567Ile)
c.6746A>T (p.Lys2249Ile)
n.8000A>T
n.322-15103T>A
c.7709A>T (p.Lys2570Ile)
n.8198A>T
2g.214932722T>CCA350792483ABCA12,SNHG31c.7700A>G (p.Lys2567Arg)
c.6746A>G (p.Lys2249Arg)
n.8000A>G
n.322-15103T>C
c.7709A>G (p.Lys2570Arg)
n.8198A>G
2g.214932722T>GCA350792484ABCA12,SNHG31c.7700A>C (p.Lys2567Thr)
c.6746A>C (p.Lys2249Thr)
n.8000A>C
n.322-15103T>G
c.7709A>C (p.Lys2570Thr)
n.8198A>C
2g.214932723T>ACA350792485ABCA12,SNHG31c.7699A>T (p.Lys2567Ter)
c.6745A>T (p.Lys2249Ter)
n.7999A>T
n.322-15102T>A
c.7708A>T (p.Lys2570Ter)
n.8197A>T
2g.214932723T>CCA2090574ABCA12,SNHG31c.7699A>G (p.Lys2567Glu)
c.6745A>G (p.Lys2249Glu)
n.7999A>G
n.322-15102T>C
c.7708A>G (p.Lys2570Glu)
n.8197A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214932723T>GCA350792486ABCA12,SNHG31c.7699A>C (p.Lys2567Gln)
c.6745A>C (p.Lys2249Gln)
n.7999A>C
n.322-15102T>G
c.7708A>C (p.Lys2570Gln)
n.8197A>C
2g.214932723T=CA1327140430ABCA12,SNHG31c.7699A= (p.Lys2567=)
c.6745A= (p.Lys2249=)
n.7999A=
n.322-15102T=
c.7708A= (p.Lys2570=)
n.8197A=
2g.214932724G>ACA431319072ABCA12,SNHG31c.7698C>T (p.Ala2566=)
c.6744C>T (p.Ala2248=)
n.7998C>T
n.322-15101G>A
c.7707C>T (p.Ala2569=)
n.8196C>T
2g.214932724G>CCA431319074ABCA12,SNHG31c.7698C>G (p.Ala2566=)
c.6744C>G (p.Ala2248=)
n.7998C>G
n.322-15101G>C
c.7707C>G (p.Ala2569=)
n.8196C>G
2g.214932724G>TCA431319073ABCA12,SNHG31c.7698C>A (p.Ala2566=)
c.6744C>A (p.Ala2248=)
n.7998C>A
n.322-15101G>T
c.7707C>A (p.Ala2569=)
n.8196C>A
 COSMIC COSMIC
2g.214932725G>ACA350792487ABCA12,SNHG31c.7697C>T (p.Ala2566Val)
c.6743C>T (p.Ala2248Val)
n.7997C>T
n.322-15100G>A
c.7706C>T (p.Ala2569Val)
n.8195C>T
 gnomAD v4 COSMIC
2g.214932725G>CCA350792488ABCA12,SNHG31c.7697C>G (p.Ala2566Gly)
c.6743C>G (p.Ala2248Gly)
n.7997C>G
n.322-15100G>C
c.7706C>G (p.Ala2569Gly)
n.8195C>G
2g.214932725G>TCA350792489ABCA12,SNHG31c.7697C>A (p.Ala2566Asp)
c.6743C>A (p.Ala2248Asp)
n.7997C>A
n.322-15100G>T
c.7706C>A (p.Ala2569Asp)
n.8195C>A
2g.214932726C>ACA65501427ABCA12,SNHG31c.7696G>T (p.Ala2566Ser)
c.6742G>T (p.Ala2248Ser)
n.7996G>T
n.322-15099C>A
c.7705G>T (p.Ala2569Ser)
n.8194G>T
 dbSNP
2g.214932726C=CA1327140433ABCA12,SNHG31c.7696G= (p.Ala2566=)
c.6742G= (p.Ala2248=)
n.7996G=
n.322-15099C=
c.7705G= (p.Ala2569=)
n.8194G=
2g.214932726C>GCA350792490ABCA12,SNHG31c.7696G>C (p.Ala2566Pro)
c.6742G>C (p.Ala2248Pro)
n.7996G>C
n.322-15099C>G
c.7705G>C (p.Ala2569Pro)
n.8194G>C
2g.214932726C>TCA350792491ABCA12,SNHG31c.7696G>A (p.Ala2566Thr)
c.6742G>A (p.Ala2248Thr)
n.7996G>A
n.322-15099C>T
c.7705G>A (p.Ala2569Thr)
n.8194G>A
2g.214932727A>CCA350792493ABCA12,SNHG31c.7695T>G (p.Phe2565Leu)
c.6741T>G (p.Phe2247Leu)
n.7995T>G
n.322-15098A>C
c.7704T>G (p.Phe2568Leu)
n.8193T>G
2g.214932727A>GCA431319075ABCA12,SNHG31c.7695T>C (p.Phe2565=)
c.6741T>C (p.Phe2247=)
n.7995T>C
n.322-15098A>G
c.7704T>C (p.Phe2568=)
n.8193T>C
2g.214932727A>TCA350792492ABCA12,SNHG31c.7695T>A (p.Phe2565Leu)
c.6741T>A (p.Phe2247Leu)
n.7995T>A
n.322-15098A>T
c.7704T>A (p.Phe2568Leu)
n.8193T>A
2g.214932728A>CCA350792494ABCA12,SNHG31c.7694T>G (p.Phe2565Cys)
c.6740T>G (p.Phe2247Cys)
n.7994T>G
n.322-15097A>C
c.7703T>G (p.Phe2568Cys)
n.8192T>G
2g.214932728A>GCA350792495ABCA12,SNHG31c.7694T>C (p.Phe2565Ser)
c.6740T>C (p.Phe2247Ser)
n.7994T>C
n.322-15097A>G
c.7703T>C (p.Phe2568Ser)
n.8192T>C
2g.214932728A>TCA350792496ABCA12,SNHG31c.7694T>A (p.Phe2565Tyr)
c.6740T>A (p.Phe2247Tyr)
n.7994T>A
n.322-15097A>T
c.7703T>A (p.Phe2568Tyr)
n.8192T>A
 gnomAD v4
2g.214932729A>CCA350792497ABCA12,SNHG31c.7693T>G (p.Phe2565Val)
c.6739T>G (p.Phe2247Val)
n.7993T>G
n.322-15096A>C
c.7702T>G (p.Phe2568Val)
n.8191T>G
2g.214932729A>GCA350792498ABCA12,SNHG31c.7693T>C (p.Phe2565Leu)
c.6739T>C (p.Phe2247Leu)
n.7993T>C
n.322-15096A>G
c.7702T>C (p.Phe2568Leu)
n.8191T>C
2g.214932729A>TCA350792499ABCA12,SNHG31c.7693T>A (p.Phe2565Ile)
c.6739T>A (p.Phe2247Ile)
n.7993T>A
n.322-15096A>T
c.7702T>A (p.Phe2568Ile)
n.8191T>A
2g.214932730G>ACA431319076ABCA12,SNHG31c.7692C>T (p.Asn2564=)
c.6738C>T (p.Asn2246=)
n.7992C>T
n.322-15095G>A
c.7701C>T (p.Asn2567=)
n.8190C>T
 gnomAD v4
2g.214932730G>CCA350792500ABCA12,SNHG31c.7692C>G (p.Asn2564Lys)
c.6738C>G (p.Asn2246Lys)
n.7992C>G
n.322-15095G>C
c.7701C>G (p.Asn2567Lys)
n.8190C>G
2g.214932730G>TCA350792501ABCA12,SNHG31c.7692C>A (p.Asn2564Lys)
c.6738C>A (p.Asn2246Lys)
n.7992C>A
n.322-15095G>T
c.7701C>A (p.Asn2567Lys)
n.8190C>A
2g.214932731T>ACA350792502ABCA12,SNHG31c.7691A>T (p.Asn2564Ile)
c.6737A>T (p.Asn2246Ile)
n.7991A>T
n.322-15094T>A
c.7700A>T (p.Asn2567Ile)
n.8189A>T
2g.214932731T>CCA350792503ABCA12,SNHG31c.7691A>G (p.Asn2564Ser)
c.6737A>G (p.Asn2246Ser)
n.7991A>G
n.322-15094T>C
c.7700A>G (p.Asn2567Ser)
n.8189A>G
2g.214932731T>GCA350792504ABCA12,SNHG31c.7691A>C (p.Asn2564Thr)
c.6737A>C (p.Asn2246Thr)
n.7991A>C
n.322-15094T>G
c.7700A>C (p.Asn2567Thr)
n.8189A>C
2g.214932732T>ACA350792505ABCA12,SNHG31c.7690A>T (p.Asn2564Tyr)
c.6736A>T (p.Asn2246Tyr)
n.7990A>T
n.322-15093T>A
c.7699A>T (p.Asn2567Tyr)
n.8188A>T
2g.214932732T>CCA350792506ABCA12,SNHG31c.7690A>G (p.Asn2564Asp)
c.6736A>G (p.Asn2246Asp)
n.7990A>G
n.322-15093T>C
c.7699A>G (p.Asn2567Asp)
n.8188A>G
2g.214932732T>GCA350792507ABCA12,SNHG31c.7690A>C (p.Asn2564His)
c.6736A>C (p.Asn2246His)
n.7990A>C
n.322-15093T>G
c.7699A>C (p.Asn2567His)
n.8188A>C
2g.214932733G>ACA431319077ABCA12,SNHG31c.7689C>T (p.Ile2563=)
c.6735C>T (p.Ile2245=)
n.7989C>T
n.322-15092G>A
c.7698C>T (p.Ile2566=)
n.8187C>T
2g.214932733G>CCA350792508ABCA12,SNHG31c.7689C>G (p.Ile2563Met)
c.6735C>G (p.Ile2245Met)
n.7989C>G
n.322-15092G>C
c.7698C>G (p.Ile2566Met)
n.8187C>G
2g.214932733G>TCA431319078ABCA12,SNHG31c.7689C>A (p.Ile2563=)
c.6735C>A (p.Ile2245=)
n.7989C>A
n.322-15092G>T
c.7698C>A (p.Ile2566=)
n.8187C>A
2g.214932734A>CCA350792509ABCA12,SNHG31c.7688T>G (p.Ile2563Ser)
c.6734T>G (p.Ile2245Ser)
n.7988T>G
n.322-15091A>C
c.7697T>G (p.Ile2566Ser)
n.8186T>G
2g.214932734A>GCA350792510ABCA12,SNHG31c.7688T>C (p.Ile2563Thr)
c.6734T>C (p.Ile2245Thr)
n.7988T>C
n.322-15091A>G
c.7697T>C (p.Ile2566Thr)
n.8186T>C
2g.214932734A>TCA350792511ABCA12,SNHG31c.7688T>A (p.Ile2563Asn)
c.6734T>A (p.Ile2245Asn)
n.7988T>A
n.322-15091A>T
c.7697T>A (p.Ile2566Asn)
n.8186T>A
2g.214932735T>ACA350792512ABCA12,SNHG31c.7687A>T (p.Ile2563Phe)
c.6733A>T (p.Ile2245Phe)
n.7987A>T
n.322-15090T>A
c.7696A>T (p.Ile2566Phe)
n.8185A>T
2g.214932735T>CCA350792513ABCA12,SNHG31c.7687A>G (p.Ile2563Val)
c.6733A>G (p.Ile2245Val)
n.7987A>G
n.322-15090T>C
c.7696A>G (p.Ile2566Val)
n.8185A>G
 gnomAD v4
2g.214932735T>GCA350792514ABCA12,SNHG31c.7687A>C (p.Ile2563Leu)
c.6733A>C (p.Ile2245Leu)
n.7987A>C
n.322-15090T>G
c.7696A>C (p.Ile2566Leu)
n.8185A>C
2g.214932736G>ACA431319079ABCA12,SNHG31c.7686C>T (p.Phe2562=)
c.6732C>T (p.Phe2244=)
n.7986C>T
n.322-15089G>A
c.7695C>T (p.Phe2565=)
n.8184C>T
 gnomAD v4
2g.214932736G>CCA350792515ABCA12,SNHG31c.7686C>G (p.Phe2562Leu)
c.6732C>G (p.Phe2244Leu)
n.7986C>G
n.322-15089G>C
c.7695C>G (p.Phe2565Leu)
n.8184C>G
2g.214932736G>TCA350792516ABCA12,SNHG31c.7686C>A (p.Phe2562Leu)
c.6732C>A (p.Phe2244Leu)
n.7986C>A
n.322-15089G>T
c.7695C>A (p.Phe2565Leu)
n.8184C>A
2g.214932737A>CCA350792517ABCA12,SNHG31c.7685T>G (p.Phe2562Cys)
c.6731T>G (p.Phe2244Cys)
n.7985T>G
n.322-15088A>C
c.7694T>G (p.Phe2565Cys)
n.8183T>G
2g.214932737A>GCA350792518ABCA12,SNHG31c.7685T>C (p.Phe2562Ser)
c.6731T>C (p.Phe2244Ser)
n.7985T>C
n.322-15088A>G
c.7694T>C (p.Phe2565Ser)
n.8183T>C
2g.214932737A>TCA350792519ABCA12,SNHG31c.7685T>A (p.Phe2562Tyr)
c.6731T>A (p.Phe2244Tyr)
n.7985T>A
n.322-15088A>T
c.7694T>A (p.Phe2565Tyr)
n.8183T>A
2g.214932738A>CCA350792520ABCA12,SNHG31c.7684T>G (p.Phe2562Val)
c.6730T>G (p.Phe2244Val)
n.7984T>G
n.322-15087A>C
c.7693T>G (p.Phe2565Val)
n.8182T>G
2g.214932738A>GCA350792521ABCA12,SNHG31c.7684T>C (p.Phe2562Leu)
c.6730T>C (p.Phe2244Leu)
n.7984T>C
n.322-15087A>G
c.7693T>C (p.Phe2565Leu)
n.8182T>C
2g.214932738A>TCA350792522ABCA12,SNHG31c.7684T>A (p.Phe2562Ile)
c.6730T>A (p.Phe2244Ile)
n.7984T>A
n.322-15087A>T
c.7693T>A (p.Phe2565Ile)
n.8182T>A
2g.214932739A=CA1327140437ABCA12,SNHG31c.7683T= (p.Val2561=)
c.6729T= (p.Val2243=)
n.7983T=
n.322-15086A=
c.7692T= (p.Val2564=)
n.8181T=
2g.214932739A>CCA431319080ABCA12,SNHG31c.7683T>G (p.Val2561=)
c.6729T>G (p.Val2243=)
n.7983T>G
n.322-15086A>C
c.7692T>G (p.Val2564=)
n.8181T>G
2g.214932739A>GCA431319081ABCA12,SNHG31c.7683T>C (p.Val2561=)
c.6729T>C (p.Val2243=)
n.7983T>C
n.322-15086A>G
c.7692T>C (p.Val2564=)
n.8181T>C
 dbSNP
2g.214932739A>TCA431319082ABCA12,SNHG31c.7683T>A (p.Val2561=)
c.6729T>A (p.Val2243=)
n.7983T>A
n.322-15086A>T
c.7692T>A (p.Val2564=)
n.8181T>A
2g.214932740A>CCA350792524ABCA12,SNHG31c.7682T>G (p.Val2561Gly)
c.6728T>G (p.Val2243Gly)
n.7982T>G
n.322-15085A>C
c.7691T>G (p.Val2564Gly)
n.8180T>G
2g.214932740A>GCA350792525ABCA12,SNHG31c.7682T>C (p.Val2561Ala)
c.6728T>C (p.Val2243Ala)
n.7982T>C
n.322-15085A>G
c.7691T>C (p.Val2564Ala)
n.8180T>C
2g.214932740A>TCA350792523ABCA12,SNHG31c.7682T>A (p.Val2561Asp)
c.6728T>A (p.Val2243Asp)
n.7982T>A
n.322-15085A>T
c.7691T>A (p.Val2564Asp)
n.8180T>A
2g.214932741C>ACA350792527ABCA12,SNHG31c.7681G>T (p.Val2561Phe)
c.6727G>T (p.Val2243Phe)
n.7981G>T
n.322-15084C>A
c.7690G>T (p.Val2564Phe)
n.8179G>T
2g.214932741C=CA1327140440ABCA12,SNHG31c.7681G= (p.Val2561=)
c.6727G= (p.Val2243=)
n.7981G=
n.322-15084C=
c.7690G= (p.Val2564=)
n.8179G=
2g.214932741C>GCA350792526ABCA12,SNHG31c.7681G>C (p.Val2561Leu)
c.6727G>C (p.Val2243Leu)
n.7981G>C
n.322-15084C>G
c.7690G>C (p.Val2564Leu)
n.8179G>C
2g.214932741C>TCA65501428ABCA12,SNHG31c.7681G>A (p.Val2561Ile)
c.6727G>A (p.Val2243Ile)
n.7981G>A
n.322-15084C>T
c.7690G>A (p.Val2564Ile)
n.8179G>A
 dbSNP gnomAD v2 gnomAD v4
2g.214932742C>ACA350792528ABCA12,SNHG31c.7681-1G>T (n.7681-1G>T)
c.6727-1G>T (n.6727-1G>T)
n.7981-1G>T
n.322-15083C>A
c.7690-1G>T (n.7690-1G>T)
n.8179-1G>T
 gnomAD v4
2g.214932742C>GCA350792529ABCA12,SNHG31c.7681-1G>C (n.7681-1G>C)
c.6727-1G>C (n.6727-1G>C)
n.7981-1G>C
n.322-15083C>G
c.7690-1G>C (n.7690-1G>C)
n.8179-1G>C
2g.214932742C>TCA350792530ABCA12,SNHG31c.7681-1G>A (n.7681-1G>A)
c.6727-1G>A (n.6727-1G>A)
n.7981-1G>A
n.322-15083C>T
c.7690-1G>A (n.7690-1G>A)
n.8179-1G>A
2g.214932743T>ACA350792531ABCA12,SNHG31c.7681-2A>T (n.7681-2A>T)
c.6727-2A>T (n.6727-2A>T)
n.7981-2A>T
n.322-15082T>A
c.7690-2A>T (n.7690-2A>T)
n.8179-2A>T
 dbSNP gnomAD v3 gnomAD v4
2g.214932743T>CCA350792532ABCA12,SNHG31c.7681-2A>G (n.7681-2A>G)
c.6727-2A>G (n.6727-2A>G)
n.7981-2A>G
n.322-15082T>C
c.7690-2A>G (n.7690-2A>G)
n.8179-2A>G
2g.214932743T>GCA350792533ABCA12,SNHG31c.7681-2A>C (n.7681-2A>C)
c.6727-2A>C (n.6727-2A>C)
n.7981-2A>C
n.322-15082T>G
c.7690-2A>C (n.7690-2A>C)
n.8179-2A>C
2g.214932743T=CA1327140441ABCA12,SNHG31c.7681-2A= (n.7681-2A=)
c.6727-2A= (n.6727-2A=)
n.7981-2A=
n.322-15082T=
c.7690-2A= (n.7690-2A=)
n.8179-2A=
2g.214932744G>ACA539750232ABCA12,SNHG31c.7681-3C>T (n.7681-3C>T)
c.6727-3C>T (n.6727-3C>T)
n.7981-3C>T
n.322-15081G>A
c.7690-3C>T (n.7690-3C>T)
n.8179-3C>T
 dbSNP gnomAD v2 gnomAD v4
2g.214932744G>CCA539750231ABCA12,SNHG31c.7681-3C>G (n.7681-3C>G)
c.6727-3C>G (n.6727-3C>G)
n.7981-3C>G
n.322-15081G>C
c.7690-3C>G (n.7690-3C>G)
n.8179-3C>G
 dbSNP gnomAD v2 gnomAD v4
2g.214932744G=CA1327140443ABCA12,SNHG31c.7681-3C= (n.7681-3C=)
c.6727-3C= (n.6727-3C=)
n.7981-3C=
n.322-15081G=
c.7690-3C= (n.7690-3C=)
n.8179-3C=
2g.214932744G>TCA764595536ABCA12,SNHG31c.7681-3C>A (n.7681-3C>A)
c.6727-3C>A (n.6727-3C>A)
n.7981-3C>A
n.322-15081G>T
c.7690-3C>A (n.7690-3C>A)
n.8179-3C>A
 dbSNP
2g.214932745A=CA1327140446ABCA12,SNHG31c.7681-4T= (n.7681-4T=)
c.6727-4T= (n.6727-4T=)
n.7981-4T=
n.322-15080A=
c.7690-4T= (n.7690-4T=)
n.8179-4T=
2g.214932745A>GCA2697550390ABCA12,SNHG31c.7681-4T>C (n.7681-4T>C)
c.6727-4T>C (n.6727-4T>C)
n.7981-4T>C
n.322-15080A>G
c.7690-4T>C (n.7690-4T>C)
n.8179-4T>C
 ClinVar
2g.214932746T>ACA2662974132ABCA12,SNHG31c.7681-5A>T (n.7681-5A>T)
c.6727-5A>T (n.6727-5A>T)
n.7981-5A>T
n.322-15079T>A
c.7690-5A>T (n.7690-5A>T)
n.8179-5A>T
 gnomAD v4
2g.214932750dupCA539750233ABCA12,SNHG31c.7681-5dup (n.7681-5dup)
c.6727-5dup (n.6727-5dup)
n.7981-5dup
n.322-15075dup
c.7690-5dup (n.7690-5dup)
n.8179-5dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.214932747T>CCA2754208601ABCA12,SNHG31c.7681-6A>G (n.7681-6A>G)
c.6727-6A>G (n.6727-6A>G)
n.7981-6A>G
n.322-15078T>C
c.7690-6A>G (n.7690-6A>G)
n.8179-6A>G
2g.214932748T>CCA2568011776ABCA12,SNHG31c.7681-7A>G (n.7681-7A>G)
c.6727-7A>G (n.6727-7A>G)
n.7981-7A>G
n.322-15077T>C
c.7690-7A>G (n.7690-7A>G)
n.8179-7A>G
2g.214932750T>CCA2662974133ABCA12,SNHG31c.7681-9A>G (n.7681-9A>G)
c.6727-9A>G (n.6727-9A>G)
n.7981-9A>G
n.322-15075T>C
c.7690-9A>G (n.7690-9A>G)
n.8179-9A>G
 gnomAD v4
2g.214932751C>TCA645535905ABCA12,SNHG31c.7681-10G>A (n.7681-10G>A)
c.6727-10G>A (n.6727-10G>A)
n.7981-10G>A
n.322-15074C>T
c.7690-10G>A (n.7690-10G>A)
n.8179-10G>A
 COSMIC COSMIC
2g.214932751_214932752delinsCACA1327140449ABCA12,SNHG31c.7681-11_7681-10delinsTG (n.7681-11_7681-10delinsTG)
c.6727-11_6727-10delinsTG (n.6727-11_6727-10delinsTG)
n.7981-11_7981-10delinsTG
n.322-15074_322-15073delinsCA
c.7690-11_7690-10delinsTG (n.7690-11_7690-10delinsTG)
n.8179-11_8179-10delinsTG
2g.214932752delCA2090575ABCA12,SNHG31c.7681-11del (n.7681-11del)
c.6727-11del (n.6727-11del)
n.7981-11del
n.322-15073del
c.7690-11del (n.7690-11del)
n.8179-11del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214932752A=CA1327140455ABCA12,SNHG31c.7681-11T= (n.7681-11T=)
c.6727-11T= (n.6727-11T=)
n.7981-11T=
n.322-15073A=
c.7690-11T= (n.7690-11T=)
n.8179-11T=
2g.214932752A>CCA539750235ABCA12,SNHG31c.7681-11T>G (n.7681-11T>G)
c.6727-11T>G (n.6727-11T>G)
n.7981-11T>G
n.322-15073A>C
c.7690-11T>G (n.7690-11T>G)
n.8179-11T>G
 dbSNP gnomAD v2 gnomAD v4
2g.214932752A>TCA2662974134ABCA12,SNHG31c.7681-11T>A (n.7681-11T>A)
c.6727-11T>A (n.6727-11T>A)
n.7981-11T>A
n.322-15073A>T
c.7690-11T>A (n.7690-11T>A)
n.8179-11T>A
 gnomAD v4
2g.214932752_214932753delinsAGCA1327140453ABCA12,SNHG31c.7681-12_7681-11delinsCT (n.7681-12_7681-11delinsCT)
c.6727-12_6727-11delinsCT (n.6727-12_6727-11delinsCT)
n.7981-12_7981-11delinsCT
n.322-15073_322-15072delinsAG
c.7690-12_7690-11delinsCT (n.7690-12_7690-11delinsCT)
n.8179-12_8179-11delinsCT
2g.214932753G>ACA2662974135ABCA12,SNHG31c.7681-12C>T (n.7681-12C>T)
c.6727-12C>T (n.6727-12C>T)
n.7981-12C>T
n.322-15072G>A
c.7690-12C>T (n.7690-12C>T)
n.8179-12C>T
 gnomAD v4
2g.214932755delCA1327140457ABCA12,SNHG31c.7681-12del (n.7681-12del)
c.6727-12del (n.6727-12del)
n.7981-12del
n.322-15070del
c.7690-12del (n.7690-12del)
n.8179-12del
 dbSNP gnomAD v4
2g.214932754G>ACA2662974136ABCA12,SNHG31c.7681-13C>T (n.7681-13C>T)
c.6727-13C>T (n.6727-13C>T)
n.7981-13C>T
n.322-15071G>A
c.7690-13C>T (n.7690-13C>T)
n.8179-13C>T
 gnomAD v4
2g.214932755G>ACA2754208603ABCA12,SNHG31c.7681-14C>T (n.7681-14C>T)
c.6727-14C>T (n.6727-14C>T)
n.7981-14C>T
n.322-15070G>A
c.7690-14C>T (n.7690-14C>T)
n.8179-14C>T
2g.214932757A=CA1327140458ABCA12,SNHG31c.7681-16T= (n.7681-16T=)
c.6727-16T= (n.6727-16T=)
n.7981-16T=
n.322-15068A=
c.7690-16T= (n.7690-16T=)
n.8179-16T=
2g.214932757A>GCA1327140459ABCA12,SNHG31c.7681-16T>C (n.7681-16T>C)
c.6727-16T>C (n.6727-16T>C)
n.7981-16T>C
n.322-15068A>G
c.7690-16T>C (n.7690-16T>C)
n.8179-16T>C
 dbSNP gnomAD v4
2g.214932758A>CCA2662974137ABCA12,SNHG31c.7681-17T>G (n.7681-17T>G)
c.6727-17T>G (n.6727-17T>G)
n.7981-17T>G
n.322-15067A>C
c.7690-17T>G (n.7690-17T>G)
n.8179-17T>G
 gnomAD v4
2g.214932759A=CA1327140461ABCA12,SNHG31c.7681-18T= (n.7681-18T=)
c.6727-18T= (n.6727-18T=)
n.7981-18T=
n.322-15066A=
c.7690-18T= (n.7690-18T=)
n.8179-18T=
2g.214932759A>GCA1042202970ABCA12,SNHG31c.7681-18T>C (n.7681-18T>C)
c.6727-18T>C (n.6727-18T>C)
n.7981-18T>C
n.322-15066A>G
c.7690-18T>C (n.7690-18T>C)
n.8179-18T>C
 dbSNP gnomAD v3 gnomAD v4
2g.214932760T>ACA2662974139ABCA12,SNHG31c.7681-19A>T (n.7681-19A>T)
c.6727-19A>T (n.6727-19A>T)
n.7981-19A>T
n.322-15065T>A
c.7690-19A>T (n.7690-19A>T)
n.8179-19A>T
 gnomAD v4
2g.214932760T>CCA2662974138ABCA12,SNHG31c.7681-19A>G (n.7681-19A>G)
c.6727-19A>G (n.6727-19A>G)
n.7981-19A>G
n.322-15065T>C
c.7690-19A>G (n.7690-19A>G)
n.8179-19A>G
 gnomAD v4

Number of alleles fetched