Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73490126T>ACA347267728ALMS1c.7786T>A (p.Ser2596Thr)
c.1178T>A
c.5238T>A
c.2233T>A (p.Ser745Thr)
c.8167T>A (p.Ser2723Thr)
c.896-29649T>A
c.2998T>A (p.Ser1000Thr)
c.8041T>A (p.Ser2681Thr)
n.1970T>A
c.8170T>A (p.Ser2724Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73490126T>CCA347267730ALMS1c.7786T>C (p.Ser2596Pro)
c.1178T>C
c.5238T>C
c.2233T>C (p.Ser745Pro)
c.8167T>C (p.Ser2723Pro)
c.896-29649T>C
c.2998T>C (p.Ser1000Pro)
c.8041T>C (p.Ser2681Pro)
n.1970T>C
c.8170T>C (p.Ser2724Pro)
2g.73490126T>GCA347267731ALMS1c.7786T>G (p.Ser2596Ala)
c.1178T>G
c.5238T>G
c.2233T>G (p.Ser745Ala)
c.8167T>G (p.Ser2723Ala)
c.896-29649T>G
c.2998T>G (p.Ser1000Ala)
c.8041T>G (p.Ser2681Ala)
n.1970T>G
c.8170T>G (p.Ser2724Ala)
 gnomAD v4
2g.73490126T=CA1260981518ALMS1c.7786T= (p.Ser2596=)
c.1178T=
c.5238T=
c.2233T= (p.Ser745=)
c.8167T= (p.Ser2723=)
c.896-29649T=
c.2998T= (p.Ser1000=)
c.8041T= (p.Ser2681=)
n.1970T=
c.8170T= (p.Ser2724=)
2g.73490127C>ACA1714417ALMS1c.7787C>A (p.Ser2596Tyr)
c.1179C>A
c.5239C>A
c.2234C>A (p.Ser745Tyr)
c.8168C>A (p.Ser2723Tyr)
c.896-29648C>A
c.2999C>A (p.Ser1000Tyr)
c.8042C>A (p.Ser2681Tyr)
n.1971C>A
c.8171C>A (p.Ser2724Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490127C=CA1260981521ALMS1c.7787C= (p.Ser2596=)
c.1179C=
c.5239C=
c.2234C= (p.Ser745=)
c.8168C= (p.Ser2723=)
c.896-29648C=
c.2999C= (p.Ser1000=)
c.8042C= (p.Ser2681=)
n.1971C=
c.8171C= (p.Ser2724=)
2g.73490127C>GCA347267732ALMS1c.7787C>G (p.Ser2596Cys)
c.1179C>G
c.5239C>G
c.2234C>G (p.Ser745Cys)
c.8168C>G (p.Ser2723Cys)
c.896-29648C>G
c.2999C>G (p.Ser1000Cys)
c.8042C>G (p.Ser2681Cys)
n.1971C>G
c.8171C>G (p.Ser2724Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.73490127C>TCA347267733ALMS1c.7787C>T (p.Ser2596Phe)
c.1179C>T
c.5239C>T
c.2234C>T (p.Ser745Phe)
c.8168C>T (p.Ser2723Phe)
c.896-29648C>T
c.2999C>T (p.Ser1000Phe)
c.8042C>T (p.Ser2681Phe)
n.1971C>T
c.8171C>T (p.Ser2724Phe)
2g.73490128T>ACA427001031ALMS1c.7788T>A (p.Ser2596=)
c.1180T>A
c.5240T>A
c.2235T>A (p.Ser745=)
c.8169T>A (p.Ser2723=)
c.896-29647T>A
c.3000T>A (p.Ser1000=)
c.8043T>A (p.Ser2681=)
n.1972T>A
c.8172T>A (p.Ser2724=)
2g.73490128T>CCA427001032ALMS1c.7788T>C (p.Ser2596=)
c.1180T>C
c.5240T>C
c.2235T>C (p.Ser745=)
c.8169T>C (p.Ser2723=)
c.896-29647T>C
c.3000T>C (p.Ser1000=)
c.8043T>C (p.Ser2681=)
n.1972T>C
c.8172T>C (p.Ser2724=)
2g.73490128T>GCA427001034ALMS1c.7788T>G (p.Ser2596=)
c.1180T>G
c.5240T>G
c.2235T>G (p.Ser745=)
c.8169T>G (p.Ser2723=)
c.896-29647T>G
c.3000T>G (p.Ser1000=)
c.8043T>G (p.Ser2681=)
n.1972T>G
c.8172T>G (p.Ser2724=)
2g.73490129A=CA1260981531ALMS1c.7789A= (p.Lys2597=)
c.1181A=
c.5241A=
c.2236A= (p.Lys746=)
c.8170A= (p.Lys2724=)
c.896-29646A=
c.3001A= (p.Lys1001=)
c.8044A= (p.Lys2682=)
n.1973A=
c.8173A= (p.Lys2725=)
2g.73490129A>CCA347267735ALMS1c.7789A>C (p.Lys2597Gln)
c.1181A>C
c.5241A>C
c.2236A>C (p.Lys746Gln)
c.8170A>C (p.Lys2724Gln)
c.896-29646A>C
c.3001A>C (p.Lys1001Gln)
c.8044A>C (p.Lys2682Gln)
n.1973A>C
c.8173A>C (p.Lys2725Gln)
2g.73490129A>GCA1714418ALMS1c.7789A>G (p.Lys2597Glu)
c.1181A>G
c.5241A>G
c.2236A>G (p.Lys746Glu)
c.8170A>G (p.Lys2724Glu)
c.896-29646A>G
c.3001A>G (p.Lys1001Glu)
c.8044A>G (p.Lys2682Glu)
n.1973A>G
c.8173A>G (p.Lys2725Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490129A>TCA347267736ALMS1c.7789A>T (p.Lys2597Ter)
c.1181A>T
c.5241A>T
c.2236A>T (p.Lys746Ter)
c.8170A>T (p.Lys2724Ter)
c.896-29646A>T
c.3001A>T (p.Lys1001Ter)
c.8044A>T (p.Lys2682Ter)
n.1973A>T
c.8173A>T (p.Lys2725Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.73490130A>CCA347267737ALMS1c.7790A>C (p.Lys2597Thr)
c.1182A>C
c.5242A>C
c.2237A>C (p.Lys746Thr)
c.8171A>C (p.Lys2724Thr)
c.896-29645A>C
c.3002A>C (p.Lys1001Thr)
c.8045A>C (p.Lys2682Thr)
n.1974A>C
c.8174A>C (p.Lys2725Thr)
2g.73490130A>GCA347267738ALMS1c.7790A>G (p.Lys2597Arg)
c.1182A>G
c.5242A>G
c.2237A>G (p.Lys746Arg)
c.8171A>G (p.Lys2724Arg)
c.896-29645A>G
c.3002A>G (p.Lys1001Arg)
c.8045A>G (p.Lys2682Arg)
n.1974A>G
c.8174A>G (p.Lys2725Arg)
2g.73490130A>TCA347267739ALMS1c.7790A>T (p.Lys2597Ile)
c.1182A>T
c.5242A>T
c.2237A>T (p.Lys746Ile)
c.8171A>T (p.Lys2724Ile)
c.896-29645A>T
c.3002A>T (p.Lys1001Ile)
c.8045A>T (p.Lys2682Ile)
n.1974A>T
c.8174A>T (p.Lys2725Ile)
2g.73490133_73490143delCA2573135760ALMS1c.7793_7803del (p.Cys2598PhefsTer5)
c.1185_1195del
c.5245_5255del
c.2240_2250del (p.Cys747PhefsTer5)
c.8174_8184del (p.Cys2725PhefsTer5)
c.896-29642_896-29632del
c.3005_3015del (p.Cys1002PhefsTer5)
c.8048_8058del (p.Cys2683PhefsTer5)
n.1977_1987del
c.8177_8187del (p.Cys2726PhefsTer5)
 ClinVar dbSNP
2g.73490131A=CA1260981536ALMS1c.7791A= (p.Lys2597=)
c.1183A=
c.5243A=
c.2238A= (p.Lys746=)
c.8172A= (p.Lys2724=)
c.896-29644A=
c.3003A= (p.Lys1001=)
c.8046A= (p.Lys2682=)
n.1975A=
c.8175A= (p.Lys2725=)
2g.73490131A>CCA347267743ALMS1c.7791A>C (p.Lys2597Asn)
c.1183A>C
c.5243A>C
c.2238A>C (p.Lys746Asn)
c.8172A>C (p.Lys2724Asn)
c.896-29644A>C
c.3003A>C (p.Lys1001Asn)
c.8046A>C (p.Lys2682Asn)
n.1975A>C
c.8175A>C (p.Lys2725Asn)
2g.73490131A>GCA427001043ALMS1c.7791A>G (p.Lys2597=)
c.1183A>G
c.5243A>G
c.2238A>G (p.Lys746=)
c.8172A>G (p.Lys2724=)
c.896-29644A>G
c.3003A>G (p.Lys1001=)
c.8046A>G (p.Lys2682=)
n.1975A>G
c.8175A>G (p.Lys2725=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73490131A>TCA347267741ALMS1c.7791A>T (p.Lys2597Asn)
c.1183A>T
c.5243A>T
c.2238A>T (p.Lys746Asn)
c.8172A>T (p.Lys2724Asn)
c.896-29644A>T
c.3003A>T (p.Lys1001Asn)
c.8046A>T (p.Lys2682Asn)
n.1975A>T
c.8175A>T (p.Lys2725Asn)
2g.73490132T>ACA347267744ALMS1c.7792T>A (p.Cys2598Ser)
c.1184T>A
c.5244T>A
c.2239T>A (p.Cys747Ser)
c.8173T>A (p.Cys2725Ser)
c.896-29643T>A
c.3004T>A (p.Cys1002Ser)
c.8047T>A (p.Cys2683Ser)
n.1976T>A
c.8176T>A (p.Cys2726Ser)
2g.73490132T>CCA347267746ALMS1c.7792T>C (p.Cys2598Arg)
c.1184T>C
c.5244T>C
c.2239T>C (p.Cys747Arg)
c.8173T>C (p.Cys2725Arg)
c.896-29643T>C
c.3004T>C (p.Cys1002Arg)
c.8047T>C (p.Cys2683Arg)
n.1976T>C
c.8176T>C (p.Cys2726Arg)
2g.73490132T>GCA347267748ALMS1c.7792T>G (p.Cys2598Gly)
c.1184T>G
c.5244T>G
c.2239T>G (p.Cys747Gly)
c.8173T>G (p.Cys2725Gly)
c.896-29643T>G
c.3004T>G (p.Cys1002Gly)
c.8047T>G (p.Cys2683Gly)
n.1976T>G
c.8176T>G (p.Cys2726Gly)
2g.73490133G>ACA347267750ALMS1c.7793G>A (p.Cys2598Tyr)
c.1185G>A
c.5245G>A
c.2240G>A (p.Cys747Tyr)
c.8174G>A (p.Cys2725Tyr)
c.896-29642G>A
c.3005G>A (p.Cys1002Tyr)
c.8048G>A (p.Cys2683Tyr)
n.1977G>A
c.8177G>A (p.Cys2726Tyr)
2g.73490133G>CCA347267751ALMS1c.7793G>C (p.Cys2598Ser)
c.1185G>C
c.5245G>C
c.2240G>C (p.Cys747Ser)
c.8174G>C (p.Cys2725Ser)
c.896-29642G>C
c.3005G>C (p.Cys1002Ser)
c.8048G>C (p.Cys2683Ser)
n.1977G>C
c.8177G>C (p.Cys2726Ser)
2g.73490133G>TCA347267752ALMS1c.7793G>T (p.Cys2598Phe)
c.1185G>T
c.5245G>T
c.2240G>T (p.Cys747Phe)
c.8174G>T (p.Cys2725Phe)
c.896-29642G>T
c.3005G>T (p.Cys1002Phe)
c.8048G>T (p.Cys2683Phe)
n.1977G>T
c.8177G>T (p.Cys2726Phe)
2g.73490134C>ACA347267755ALMS1c.7794C>A (p.Cys2598Ter)
c.1186C>A
c.5246C>A
c.2241C>A (p.Cys747Ter)
c.8175C>A (p.Cys2725Ter)
c.896-29641C>A
c.3006C>A (p.Cys1002Ter)
c.8049C>A (p.Cys2683Ter)
n.1978C>A
c.8178C>A (p.Cys2726Ter)
2g.73490134C=CA1260981541ALMS1c.7794C= (p.Cys2598=)
c.1186C=
c.5246C=
c.2241C= (p.Cys747=)
c.8175C= (p.Cys2725=)
c.896-29641C=
c.3006C= (p.Cys1002=)
c.8049C= (p.Cys2683=)
n.1978C=
c.8178C= (p.Cys2726=)
2g.73490134C>GCA347267756ALMS1c.7794C>G (p.Cys2598Trp)
c.1186C>G
c.5246C>G
c.2241C>G (p.Cys747Trp)
c.8175C>G (p.Cys2725Trp)
c.896-29641C>G
c.3006C>G (p.Cys1002Trp)
c.8049C>G (p.Cys2683Trp)
n.1978C>G
c.8178C>G (p.Cys2726Trp)
2g.73490134C>TCA1714419ALMS1c.7794C>T (p.Cys2598=)
c.1186C>T
c.5246C>T
c.2241C>T (p.Cys747=)
c.8175C>T (p.Cys2725=)
c.896-29641C>T
c.3006C>T (p.Cys1002=)
c.8049C>T (p.Cys2683=)
n.1978C>T
c.8178C>T (p.Cys2726=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490135A>CCA347267758ALMS1c.7795A>C (p.Ile2599Leu)
c.1187A>C
c.5247A>C
c.2242A>C (p.Ile748Leu)
c.8176A>C (p.Ile2726Leu)
c.896-29640A>C
c.3007A>C (p.Ile1003Leu)
c.8050A>C (p.Ile2684Leu)
n.1979A>C
c.8179A>C (p.Ile2727Leu)
2g.73490135A>GCA347267760ALMS1c.7795A>G (p.Ile2599Val)
c.1187A>G
c.5247A>G
c.2242A>G (p.Ile748Val)
c.8176A>G (p.Ile2726Val)
c.896-29640A>G
c.3007A>G (p.Ile1003Val)
c.8050A>G (p.Ile2684Val)
n.1979A>G
c.8179A>G (p.Ile2727Val)
2g.73490135A>TCA347267761ALMS1c.7795A>T (p.Ile2599Phe)
c.1187A>T
c.5247A>T
c.2242A>T (p.Ile748Phe)
c.8176A>T (p.Ile2726Phe)
c.896-29640A>T
c.3007A>T (p.Ile1003Phe)
c.8050A>T (p.Ile2684Phe)
n.1979A>T
c.8179A>T (p.Ile2727Phe)
2g.73490136T>ACA347267766ALMS1c.7796T>A (p.Ile2599Asn)
c.1188T>A
c.5248T>A
c.2243T>A (p.Ile748Asn)
c.8177T>A (p.Ile2726Asn)
c.896-29639T>A
c.3008T>A (p.Ile1003Asn)
c.8051T>A (p.Ile2684Asn)
n.1980T>A
c.8180T>A (p.Ile2727Asn)
2g.73490136T>CCA347267764ALMS1c.7796T>C (p.Ile2599Thr)
c.1188T>C
c.5248T>C
c.2243T>C (p.Ile748Thr)
c.8177T>C (p.Ile2726Thr)
c.896-29639T>C
c.3008T>C (p.Ile1003Thr)
c.8051T>C (p.Ile2684Thr)
n.1980T>C
c.8180T>C (p.Ile2727Thr)
2g.73490136T>GCA347267763ALMS1c.7796T>G (p.Ile2599Ser)
c.1188T>G
c.5248T>G
c.2243T>G (p.Ile748Ser)
c.8177T>G (p.Ile2726Ser)
c.896-29639T>G
c.3008T>G (p.Ile1003Ser)
c.8051T>G (p.Ile2684Ser)
n.1980T>G
c.8180T>G (p.Ile2727Ser)
2g.73490137T>ACA427001058ALMS1c.7797T>A (p.Ile2599=)
c.1189T>A
c.5249T>A
c.2244T>A (p.Ile748=)
c.8178T>A (p.Ile2726=)
c.896-29638T>A
c.3009T>A (p.Ile1003=)
c.8052T>A (p.Ile2684=)
n.1981T>A
c.8181T>A (p.Ile2727=)
2g.73490137T>CCA1714420ALMS1c.7797T>C (p.Ile2599=)
c.1189T>C
c.5249T>C
c.2244T>C (p.Ile748=)
c.8178T>C (p.Ile2726=)
c.896-29638T>C
c.3009T>C (p.Ile1003=)
c.8052T>C (p.Ile2684=)
n.1981T>C
c.8181T>C (p.Ile2727=)
 ClinVar dbSNP ExAC gnomAD v2
2g.73490137T>GCA347267768ALMS1c.7797T>G (p.Ile2599Met)
c.1189T>G
c.5249T>G
c.2244T>G (p.Ile748Met)
c.8178T>G (p.Ile2726Met)
c.896-29638T>G
c.3009T>G (p.Ile1003Met)
c.8052T>G (p.Ile2684Met)
n.1981T>G
c.8181T>G (p.Ile2727Met)
2g.73490137T=CA1260981545ALMS1c.7797T= (p.Ile2599=)
c.1189T=
c.5249T=
c.2244T= (p.Ile748=)
c.8178T= (p.Ile2726=)
c.896-29638T=
c.3009T= (p.Ile1003=)
c.8052T= (p.Ile2684=)
n.1981T=
c.8181T= (p.Ile2727=)
2g.73490138T>ACA347267770ALMS1c.7798T>A (p.Ser2600Thr)
c.1190T>A
c.5250T>A
c.2245T>A (p.Ser749Thr)
c.8179T>A (p.Ser2727Thr)
c.896-29637T>A
c.3010T>A (p.Ser1004Thr)
c.8053T>A (p.Ser2685Thr)
n.1982T>A
c.8182T>A (p.Ser2728Thr)
2g.73490138T>CCA347267771ALMS1c.7798T>C (p.Ser2600Pro)
c.1190T>C
c.5250T>C
c.2245T>C (p.Ser749Pro)
c.8179T>C (p.Ser2727Pro)
c.896-29637T>C
c.3010T>C (p.Ser1004Pro)
c.8053T>C (p.Ser2685Pro)
n.1982T>C
c.8182T>C (p.Ser2728Pro)
2g.73490138T>GCA347267772ALMS1c.7798T>G (p.Ser2600Ala)
c.1190T>G
c.5250T>G
c.2245T>G (p.Ser749Ala)
c.8179T>G (p.Ser2727Ala)
c.896-29637T>G
c.3010T>G (p.Ser1004Ala)
c.8053T>G (p.Ser2685Ala)
n.1982T>G
c.8182T>G (p.Ser2728Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.73490138T=CA1260981548ALMS1c.7798T= (p.Ser2600=)
c.1190T=
c.5250T=
c.2245T= (p.Ser749=)
c.8179T= (p.Ser2727=)
c.896-29637T=
c.3010T= (p.Ser1004=)
c.8053T= (p.Ser2685=)
n.1982T=
c.8182T= (p.Ser2728=)
2g.73490139C>ACA347267774ALMS1c.7799C>A (p.Ser2600Tyr)
c.1191C>A
c.5251C>A
c.2246C>A (p.Ser749Tyr)
c.8180C>A (p.Ser2727Tyr)
c.896-29636C>A
c.3011C>A (p.Ser1004Tyr)
c.8054C>A (p.Ser2685Tyr)
n.1983C>A
c.8183C>A (p.Ser2728Tyr)
2g.73490139C=CA1260981551ALMS1c.7799C= (p.Ser2600=)
c.1191C=
c.5251C=
c.2246C= (p.Ser749=)
c.8180C= (p.Ser2727=)
c.896-29636C=
c.3011C= (p.Ser1004=)
c.8054C= (p.Ser2685=)
n.1983C=
c.8183C= (p.Ser2728=)
2g.73490139C>GCA347267776ALMS1c.7799C>G (p.Ser2600Cys)
c.1191C>G
c.5251C>G
c.2246C>G (p.Ser749Cys)
c.8180C>G (p.Ser2727Cys)
c.896-29636C>G
c.3011C>G (p.Ser1004Cys)
c.8054C>G (p.Ser2685Cys)
n.1983C>G
c.8183C>G (p.Ser2728Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.73490139C>TCA347267778ALMS1c.7799C>T (p.Ser2600Phe)
c.1191C>T
c.5251C>T
c.2246C>T (p.Ser749Phe)
c.8180C>T (p.Ser2727Phe)
c.896-29636C>T
c.3011C>T (p.Ser1004Phe)
c.8054C>T (p.Ser2685Phe)
n.1983C>T
c.8183C>T (p.Ser2728Phe)
2g.73490140C>ACA427001065ALMS1c.7800C>A (p.Ser2600=)
c.1192C>A
c.5252C>A
c.2247C>A (p.Ser749=)
c.8181C>A (p.Ser2727=)
c.896-29635C>A
c.3012C>A (p.Ser1004=)
c.8055C>A (p.Ser2685=)
n.1984C>A
c.8184C>A (p.Ser2728=)
 gnomAD v4
2g.73490140C=CA1260981553ALMS1c.7800C= (p.Ser2600=)
c.1192C=
c.5252C=
c.2247C= (p.Ser749=)
c.8181C= (p.Ser2727=)
c.896-29635C=
c.3012C= (p.Ser1004=)
c.8055C= (p.Ser2685=)
n.1984C=
c.8184C= (p.Ser2728=)
2g.73490140C>GCA1714421ALMS1c.7800C>G (p.Ser2600=)
c.1192C>G
c.5252C>G
c.2247C>G (p.Ser749=)
c.8181C>G (p.Ser2727=)
c.896-29635C>G
c.3012C>G (p.Ser1004=)
c.8055C>G (p.Ser2685=)
n.1984C>G
c.8184C>G (p.Ser2728=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490140C>TCA427001068ALMS1c.7800C>T (p.Ser2600=)
c.1192C>T
c.5252C>T
c.2247C>T (p.Ser749=)
c.8181C>T (p.Ser2727=)
c.896-29635C>T
c.3012C>T (p.Ser1004=)
c.8055C>T (p.Ser2685=)
n.1984C>T
c.8184C>T (p.Ser2728=)
 dbSNP gnomAD v3 gnomAD v4
2g.73490141A>CCA347267780ALMS1c.7801A>C (p.Asn2601His)
c.1193A>C
c.5253A>C
c.2248A>C (p.Asn750His)
c.8182A>C (p.Asn2728His)
c.896-29634A>C
c.3013A>C (p.Asn1005His)
c.8056A>C (p.Asn2686His)
n.1985A>C
c.8185A>C (p.Asn2729His)
 ClinVar
2g.73490141A>GCA347267781ALMS1c.7801A>G (p.Asn2601Asp)
c.1193A>G
c.5253A>G
c.2248A>G (p.Asn750Asp)
c.8182A>G (p.Asn2728Asp)
c.896-29634A>G
c.3013A>G (p.Asn1005Asp)
c.8056A>G (p.Asn2686Asp)
n.1985A>G
c.8185A>G (p.Asn2729Asp)
2g.73490141A>TCA347267783ALMS1c.7801A>T (p.Asn2601Tyr)
c.1193A>T
c.5253A>T
c.2248A>T (p.Asn750Tyr)
c.8182A>T (p.Asn2728Tyr)
c.896-29634A>T
c.3013A>T (p.Asn1005Tyr)
c.8056A>T (p.Asn2686Tyr)
n.1985A>T
c.8185A>T (p.Asn2729Tyr)
2g.73490142A=CA1260981556ALMS1c.7802A= (p.Asn2601=)
c.1194A=
c.5254A=
c.2249A= (p.Asn750=)
c.8183A= (p.Asn2728=)
c.896-29633A=
c.3014A= (p.Asn1005=)
c.8057A= (p.Asn2686=)
n.1986A=
c.8186A= (p.Asn2729=)
2g.73490142A>CCA347267786ALMS1c.7802A>C (p.Asn2601Thr)
c.1194A>C
c.5254A>C
c.2249A>C (p.Asn750Thr)
c.8183A>C (p.Asn2728Thr)
c.896-29633A>C
c.3014A>C (p.Asn1005Thr)
c.8057A>C (p.Asn2686Thr)
n.1986A>C
c.8186A>C (p.Asn2729Thr)
2g.73490142A>GCA347267784ALMS1c.7802A>G (p.Asn2601Ser)
c.1194A>G
c.5254A>G
c.2249A>G (p.Asn750Ser)
c.8183A>G (p.Asn2728Ser)
c.896-29633A>G
c.3014A>G (p.Asn1005Ser)
c.8057A>G (p.Asn2686Ser)
n.1986A>G
c.8186A>G (p.Asn2729Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73490142A>TCA50378194ALMS1c.7802A>T (p.Asn2601Ile)
c.1194A>T
c.5254A>T
c.2249A>T (p.Asn750Ile)
c.8183A>T (p.Asn2728Ile)
c.896-29633A>T
c.3014A>T (p.Asn1005Ile)
c.8057A>T (p.Asn2686Ile)
n.1986A>T
c.8186A>T (p.Asn2729Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73490143T>ACA347267787ALMS1c.7803T>A (p.Asn2601Lys)
c.1195T>A
c.5255T>A
c.2250T>A (p.Asn750Lys)
c.8184T>A (p.Asn2728Lys)
c.896-29632T>A
c.3015T>A (p.Asn1005Lys)
c.8058T>A (p.Asn2686Lys)
n.1987T>A
c.8187T>A (p.Asn2729Lys)
2g.73490143T>CCA427001075ALMS1c.7803T>C (p.Asn2601=)
c.1195T>C
c.5255T>C
c.2250T>C (p.Asn750=)
c.8184T>C (p.Asn2728=)
c.896-29632T>C
c.3015T>C (p.Asn1005=)
c.8058T>C (p.Asn2686=)
n.1987T>C
c.8187T>C (p.Asn2729=)
 gnomAD v4
2g.73490143T>GCA347267789ALMS1c.7803T>G (p.Asn2601Lys)
c.1195T>G
c.5255T>G
c.2250T>G (p.Asn750Lys)
c.8184T>G (p.Asn2728Lys)
c.896-29632T>G
c.3015T>G (p.Asn1005Lys)
c.8058T>G (p.Asn2686Lys)
n.1987T>G
c.8187T>G (p.Asn2729Lys)
2g.73490144T>ACA347267790ALMS1c.7804T>A (p.Ser2602Thr)
c.1196T>A
c.5256T>A
c.2251T>A (p.Ser751Thr)
c.8185T>A (p.Ser2729Thr)
c.896-29631T>A
c.3016T>A (p.Ser1006Thr)
c.8059T>A (p.Ser2687Thr)
n.1988T>A
c.8188T>A (p.Ser2730Thr)
2g.73490144T>CCA347267791ALMS1c.7804T>C (p.Ser2602Pro)
c.1196T>C
c.5256T>C
c.2251T>C (p.Ser751Pro)
c.8185T>C (p.Ser2729Pro)
c.896-29631T>C
c.3016T>C (p.Ser1006Pro)
c.8059T>C (p.Ser2687Pro)
n.1988T>C
c.8188T>C (p.Ser2730Pro)
2g.73490144T>GCA347267792ALMS1c.7804T>G (p.Ser2602Ala)
c.1196T>G
c.5256T>G
c.2251T>G (p.Ser751Ala)
c.8185T>G (p.Ser2729Ala)
c.896-29631T>G
c.3016T>G (p.Ser1006Ala)
c.8059T>G (p.Ser2687Ala)
n.1988T>G
c.8188T>G (p.Ser2730Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.73490144T=CA1260981562ALMS1c.7804T= (p.Ser2602=)
c.1196T=
c.5256T=
c.2251T= (p.Ser751=)
c.8185T= (p.Ser2729=)
c.896-29631T=
c.3016T= (p.Ser1006=)
c.8059T= (p.Ser2687=)
n.1988T=
c.8188T= (p.Ser2730=)
2g.73490145C>ACA1714422ALMS1c.7805C>A (p.Ser2602Tyr)
c.1197C>A
c.5257C>A
c.2252C>A (p.Ser751Tyr)
c.8186C>A (p.Ser2729Tyr)
c.896-29630C>A
c.3017C>A (p.Ser1006Tyr)
c.8060C>A (p.Ser2687Tyr)
n.1989C>A
c.8189C>A (p.Ser2730Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490145C=CA1260981566ALMS1c.7805C= (p.Ser2602=)
c.1197C=
c.5257C=
c.2252C= (p.Ser751=)
c.8186C= (p.Ser2729=)
c.896-29630C=
c.3017C= (p.Ser1006=)
c.8060C= (p.Ser2687=)
n.1989C=
c.8189C= (p.Ser2730=)
2g.73490145C>GCA347267795ALMS1c.7805C>G (p.Ser2602Cys)
c.1197C>G
c.5257C>G
c.2252C>G (p.Ser751Cys)
c.8186C>G (p.Ser2729Cys)
c.896-29630C>G
c.3017C>G (p.Ser1006Cys)
c.8060C>G (p.Ser2687Cys)
n.1989C>G
c.8189C>G (p.Ser2730Cys)
2g.73490145C>TCA347267797ALMS1c.7805C>T (p.Ser2602Phe)
c.1197C>T
c.5257C>T
c.2252C>T (p.Ser751Phe)
c.8186C>T (p.Ser2729Phe)
c.896-29630C>T
c.3017C>T (p.Ser1006Phe)
c.8060C>T (p.Ser2687Phe)
n.1989C>T
c.8189C>T (p.Ser2730Phe)
 gnomAD v4
2g.73490146C>ACA427001086ALMS1c.7806C>A (p.Ser2602=)
c.1198C>A
c.5258C>A
c.2253C>A (p.Ser751=)
c.8187C>A (p.Ser2729=)
c.896-29629C>A
c.3018C>A (p.Ser1006=)
c.8061C>A (p.Ser2687=)
n.1990C>A
c.8190C>A (p.Ser2730=)
2g.73490146C=CA1260981571ALMS1c.7806C= (p.Ser2602=)
c.1198C=
c.5258C=
c.2253C= (p.Ser751=)
c.8187C= (p.Ser2729=)
c.896-29629C=
c.3018C= (p.Ser1006=)
c.8061C= (p.Ser2687=)
n.1990C=
c.8190C= (p.Ser2730=)
2g.73490146C>GCA427001085ALMS1c.7806C>G (p.Ser2602=)
c.1198C>G
c.5258C>G
c.2253C>G (p.Ser751=)
c.8187C>G (p.Ser2729=)
c.896-29629C>G
c.3018C>G (p.Ser1006=)
c.8061C>G (p.Ser2687=)
n.1990C>G
c.8190C>G (p.Ser2730=)
2g.73490146C>TCA427001084ALMS1c.7806C>T (p.Ser2602=)
c.1198C>T
c.5258C>T
c.2253C>T (p.Ser751=)
c.8187C>T (p.Ser2729=)
c.896-29629C>T
c.3018C>T (p.Ser1006=)
c.8061C>T (p.Ser2687=)
n.1990C>T
c.8190C>T (p.Ser2730=)
 dbSNP
2g.73490147T>ACA347267798ALMS1c.7807T>A (p.Ser2603Thr)
c.1199T>A
c.5259T>A
c.2254T>A (p.Ser752Thr)
c.8188T>A (p.Ser2730Thr)
c.896-29628T>A
c.3019T>A (p.Ser1007Thr)
c.8062T>A (p.Ser2688Thr)
n.1991T>A
c.8191T>A (p.Ser2731Thr)
2g.73490147T>CCA347267799ALMS1c.7807T>C (p.Ser2603Pro)
c.1199T>C
c.5259T>C
c.2254T>C (p.Ser752Pro)
c.8188T>C (p.Ser2730Pro)
c.896-29628T>C
c.3019T>C (p.Ser1007Pro)
c.8062T>C (p.Ser2688Pro)
n.1991T>C
c.8191T>C (p.Ser2731Pro)
2g.73490147T>GCA347267801ALMS1c.7807T>G (p.Ser2603Ala)
c.1199T>G
c.5259T>G
c.2254T>G (p.Ser752Ala)
c.8188T>G (p.Ser2730Ala)
c.896-29628T>G
c.3019T>G (p.Ser1007Ala)
c.8062T>G (p.Ser2688Ala)
n.1991T>G
c.8191T>G (p.Ser2731Ala)
2g.73490148C>ACA347267804ALMS1c.7808C>A (p.Ser2603Tyr)
c.1200C>A
c.5260C>A
c.2255C>A (p.Ser752Tyr)
c.8189C>A (p.Ser2730Tyr)
c.896-29627C>A
c.3020C>A (p.Ser1007Tyr)
c.8063C>A (p.Ser2688Tyr)
n.1992C>A
c.8192C>A (p.Ser2731Tyr)
2g.73490148C>GCA347267803ALMS1c.7808C>G (p.Ser2603Cys)
c.1200C>G
c.5260C>G
c.2255C>G (p.Ser752Cys)
c.8189C>G (p.Ser2730Cys)
c.896-29627C>G
c.3020C>G (p.Ser1007Cys)
c.8063C>G (p.Ser2688Cys)
n.1992C>G
c.8192C>G (p.Ser2731Cys)
 gnomAD v4
2g.73490148C>TCA347267802ALMS1c.7808C>T (p.Ser2603Phe)
c.1200C>T
c.5260C>T
c.2255C>T (p.Ser752Phe)
c.8189C>T (p.Ser2730Phe)
c.896-29627C>T
c.3020C>T (p.Ser1007Phe)
c.8063C>T (p.Ser2688Phe)
n.1992C>T
c.8192C>T (p.Ser2731Phe)
2g.73490149T>ACA427001094ALMS1c.7809T>A (p.Ser2603=)
c.1201T>A
c.5261T>A
c.2256T>A (p.Ser752=)
c.8190T>A (p.Ser2730=)
c.896-29626T>A
c.3021T>A (p.Ser1007=)
c.8064T>A (p.Ser2688=)
n.1993T>A
c.8193T>A (p.Ser2731=)
2g.73490149T>CCA427001096ALMS1c.7809T>C (p.Ser2603=)
c.1201T>C
c.5261T>C
c.2256T>C (p.Ser752=)
c.8190T>C (p.Ser2730=)
c.896-29626T>C
c.3021T>C (p.Ser1007=)
c.8064T>C (p.Ser2688=)
n.1993T>C
c.8193T>C (p.Ser2731=)
2g.73490149T>GCA427001097ALMS1c.7809T>G (p.Ser2603=)
c.1201T>G
c.5261T>G
c.2256T>G (p.Ser752=)
c.8190T>G (p.Ser2730=)
c.896-29626T>G
c.3021T>G (p.Ser1007=)
c.8064T>G (p.Ser2688=)
n.1993T>G
c.8193T>G (p.Ser2731=)
2g.73490150G>ACA347267806ALMS1c.7810G>A (p.Val2604Ile)
c.1202G>A
c.5262G>A
c.2257G>A (p.Val753Ile)
c.8191G>A (p.Val2731Ile)
c.896-29625G>A
c.3022G>A (p.Val1008Ile)
c.8065G>A (p.Val2689Ile)
n.1994G>A
c.8194G>A (p.Val2732Ile)
 dbSNP gnomAD v4
2g.73490150G>CCA347267809ALMS1c.7810G>C (p.Val2604Leu)
c.1202G>C
c.5262G>C
c.2257G>C (p.Val753Leu)
c.8191G>C (p.Val2731Leu)
c.896-29625G>C
c.3022G>C (p.Val1008Leu)
c.8065G>C (p.Val2689Leu)
n.1994G>C
c.8194G>C (p.Val2732Leu)
2g.73490150G=CA1260981575ALMS1c.7810G= (p.Val2604=)
c.1202G=
c.5262G=
c.2257G= (p.Val753=)
c.8191G= (p.Val2731=)
c.896-29625G=
c.3022G= (p.Val1008=)
c.8065G= (p.Val2689=)
n.1994G=
c.8194G= (p.Val2732=)
2g.73490150G>TCA347267807ALMS1c.7810G>T (p.Val2604Phe)
c.1202G>T
c.5262G>T
c.2257G>T (p.Val753Phe)
c.8191G>T (p.Val2731Phe)
c.896-29625G>T
c.3022G>T (p.Val1008Phe)
c.8065G>T (p.Val2689Phe)
n.1994G>T
c.8194G>T (p.Val2732Phe)
2g.73490151T>ACA347267810ALMS1c.7811T>A (p.Val2604Asp)
c.1203T>A
c.5263T>A
c.2258T>A (p.Val753Asp)
c.8192T>A (p.Val2731Asp)
c.896-29624T>A
c.3023T>A (p.Val1008Asp)
c.8066T>A (p.Val2689Asp)
n.1995T>A
c.8195T>A (p.Val2732Asp)
2g.73490151T>CCA347267812ALMS1c.7811T>C (p.Val2604Ala)
c.1203T>C
c.5263T>C
c.2258T>C (p.Val753Ala)
c.8192T>C (p.Val2731Ala)
c.896-29624T>C
c.3023T>C (p.Val1008Ala)
c.8066T>C (p.Val2689Ala)
n.1995T>C
c.8195T>C (p.Val2732Ala)
2g.73490151T>GCA347267813ALMS1c.7811T>G (p.Val2604Gly)
c.1203T>G
c.5263T>G
c.2258T>G (p.Val753Gly)
c.8192T>G (p.Val2731Gly)
c.896-29624T>G
c.3023T>G (p.Val1008Gly)
c.8066T>G (p.Val2689Gly)
n.1995T>G
c.8195T>G (p.Val2732Gly)
2g.73490152T>ACA427001099ALMS1c.7812T>A (p.Val2604=)
c.1204T>A
c.5264T>A
c.2259T>A (p.Val753=)
c.8193T>A (p.Val2731=)
c.896-29623T>A
c.3024T>A (p.Val1008=)
c.8067T>A (p.Val2689=)
n.1996T>A
c.8196T>A (p.Val2732=)
2g.73490152T>CCA427001100ALMS1c.7812T>C (p.Val2604=)
c.1204T>C
c.5264T>C
c.2259T>C (p.Val753=)
c.8193T>C (p.Val2731=)
c.896-29623T>C
c.3024T>C (p.Val1008=)
c.8067T>C (p.Val2689=)
n.1996T>C
c.8196T>C (p.Val2732=)
2g.73490152T>GCA427001101ALMS1c.7812T>G (p.Val2604=)
c.1204T>G
c.5264T>G
c.2259T>G (p.Val753=)
c.8193T>G (p.Val2731=)
c.896-29623T>G
c.3024T>G (p.Val1008=)
c.8067T>G (p.Val2689=)
n.1996T>G
c.8196T>G (p.Val2732=)
 gnomAD v4
2g.73490153G>ACA347267814ALMS1c.7813G>A (p.Val2605Ile)
c.1205G>A
c.5265G>A
c.2260G>A (p.Val754Ile)
c.8194G>A (p.Val2732Ile)
c.896-29622G>A
c.3025G>A (p.Val1009Ile)
c.8068G>A (p.Val2690Ile)
n.1997G>A
c.8197G>A (p.Val2733Ile)
2g.73490153G>CCA347267816ALMS1c.7813G>C (p.Val2605Leu)
c.1205G>C
c.5265G>C
c.2260G>C (p.Val754Leu)
c.8194G>C (p.Val2732Leu)
c.896-29622G>C
c.3025G>C (p.Val1009Leu)
c.8068G>C (p.Val2690Leu)
n.1997G>C
c.8197G>C (p.Val2733Leu)
2g.73490153G>TCA347267818ALMS1c.7813G>T (p.Val2605Phe)
c.1205G>T
c.5265G>T
c.2260G>T (p.Val754Phe)
c.8194G>T (p.Val2732Phe)
c.896-29622G>T
c.3025G>T (p.Val1009Phe)
c.8068G>T (p.Val2690Phe)
n.1997G>T
c.8197G>T (p.Val2733Phe)
2g.73490154T>ACA347267820ALMS1c.7814T>A (p.Val2605Asp)
c.1206T>A
c.5266T>A
c.2261T>A (p.Val754Asp)
c.8195T>A (p.Val2732Asp)
c.896-29621T>A
c.3026T>A (p.Val1009Asp)
c.8069T>A (p.Val2690Asp)
n.1998T>A
c.8198T>A (p.Val2733Asp)
2g.73490154T>CCA1714423ALMS1c.7814T>C (p.Val2605Ala)
c.1206T>C
c.5266T>C
c.2261T>C (p.Val754Ala)
c.8195T>C (p.Val2732Ala)
c.896-29621T>C
c.3026T>C (p.Val1009Ala)
c.8069T>C (p.Val2690Ala)
n.1998T>C
c.8198T>C (p.Val2733Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490154T>GCA347267822ALMS1c.7814T>G (p.Val2605Gly)
c.1206T>G
c.5266T>G
c.2261T>G (p.Val754Gly)
c.8195T>G (p.Val2732Gly)
c.896-29621T>G
c.3026T>G (p.Val1009Gly)
c.8069T>G (p.Val2690Gly)
n.1998T>G
c.8198T>G (p.Val2733Gly)
2g.73490154T=CA1260981579ALMS1c.7814T= (p.Val2605=)
c.1206T=
c.5266T=
c.2261T= (p.Val754=)
c.8195T= (p.Val2732=)
c.896-29621T=
c.3026T= (p.Val1009=)
c.8069T= (p.Val2690=)
n.1998T=
c.8198T= (p.Val2733=)
2g.73490155T>ACA427001108ALMS1c.7815T>A (p.Val2605=)
c.1207T>A
c.5267T>A
c.2262T>A (p.Val754=)
c.8196T>A (p.Val2732=)
c.896-29620T>A
c.3027T>A (p.Val1009=)
c.8070T>A (p.Val2690=)
n.1999T>A
c.8199T>A (p.Val2733=)
2g.73490155T>CCA427001110ALMS1c.7815T>C (p.Val2605=)
c.1207T>C
c.5267T>C
c.2262T>C (p.Val754=)
c.8196T>C (p.Val2732=)
c.896-29620T>C
c.3027T>C (p.Val1009=)
c.8070T>C (p.Val2690=)
n.1999T>C
c.8199T>C (p.Val2733=)
2g.73490155T>GCA427001111ALMS1c.7815T>G (p.Val2605=)
c.1207T>G
c.5267T>G
c.2262T>G (p.Val754=)
c.8196T>G (p.Val2732=)
c.896-29620T>G
c.3027T>G (p.Val1009=)
c.8070T>G (p.Val2690=)
n.1999T>G
c.8199T>G (p.Val2733=)
2g.73490156A=CA1260981585ALMS1c.7816A= (p.Lys2606=)
c.1208A=
c.5268A=
c.2263A= (p.Lys755=)
c.8197A= (p.Lys2733=)
c.896-29619A=
c.3028A= (p.Lys1010=)
c.8071A= (p.Lys2691=)
n.2000A=
c.8200A= (p.Lys2734=)
2g.73490156A>CCA347267824ALMS1c.7816A>C (p.Lys2606Gln)
c.1208A>C
c.5268A>C
c.2263A>C (p.Lys755Gln)
c.8197A>C (p.Lys2733Gln)
c.896-29619A>C
c.3028A>C (p.Lys1010Gln)
c.8071A>C (p.Lys2691Gln)
n.2000A>C
c.8200A>C (p.Lys2734Gln)
 ClinVar dbSNP
2g.73490156A>GCA347267825ALMS1c.7816A>G (p.Lys2606Glu)
c.1208A>G
c.5268A>G
c.2263A>G (p.Lys755Glu)
c.8197A>G (p.Lys2733Glu)
c.896-29619A>G
c.3028A>G (p.Lys1010Glu)
c.8071A>G (p.Lys2691Glu)
n.2000A>G
c.8200A>G (p.Lys2734Glu)
2g.73490156A>TCA347267826ALMS1c.7816A>T (p.Lys2606Ter)
c.1208A>T
c.5268A>T
c.2263A>T (p.Lys755Ter)
c.8197A>T (p.Lys2733Ter)
c.896-29619A>T
c.3028A>T (p.Lys1010Ter)
c.8071A>T (p.Lys2691Ter)
n.2000A>T
c.8200A>T (p.Lys2734Ter)
2g.73490157A=CA1260981590ALMS1c.7817A= (p.Lys2606=)
c.1209A=
c.5269A=
c.2264A= (p.Lys755=)
c.8198A= (p.Lys2733=)
c.896-29618A=
c.3029A= (p.Lys1010=)
c.8072A= (p.Lys2691=)
n.2001A=
c.8201A= (p.Lys2734=)
2g.73490157A>CCA347267830ALMS1c.7817A>C (p.Lys2606Thr)
c.1209A>C
c.5269A>C
c.2264A>C (p.Lys755Thr)
c.8198A>C (p.Lys2733Thr)
c.896-29618A>C
c.3029A>C (p.Lys1010Thr)
c.8072A>C (p.Lys2691Thr)
n.2001A>C
c.8201A>C (p.Lys2734Thr)
 dbSNP
2g.73490157A>GCA347267827ALMS1c.7817A>G (p.Lys2606Arg)
c.1209A>G
c.5269A>G
c.2264A>G (p.Lys755Arg)
c.8198A>G (p.Lys2733Arg)
c.896-29618A>G
c.3029A>G (p.Lys1010Arg)
c.8072A>G (p.Lys2691Arg)
n.2001A>G
c.8201A>G (p.Lys2734Arg)
2g.73490157A>TCA347267829ALMS1c.7817A>T (p.Lys2606Met)
c.1209A>T
c.5269A>T
c.2264A>T (p.Lys755Met)
c.8198A>T (p.Lys2733Met)
c.896-29618A>T
c.3029A>T (p.Lys1010Met)
c.8072A>T (p.Lys2691Met)
n.2001A>T
c.8201A>T (p.Lys2734Met)
2g.73490158G>ACA427001117ALMS1c.7818G>A (p.Lys2606=)
c.1210G>A
c.5270G>A
c.2265G>A (p.Lys755=)
c.8199G>A (p.Lys2733=)
c.896-29617G>A
c.3030G>A (p.Lys1010=)
c.8073G>A (p.Lys2691=)
n.2002G>A
c.8202G>A (p.Lys2734=)
2g.73490158G>CCA347267831ALMS1c.7818G>C (p.Lys2606Asn)
c.1210G>C
c.5270G>C
c.2265G>C (p.Lys755Asn)
c.8199G>C (p.Lys2733Asn)
c.896-29617G>C
c.3030G>C (p.Lys1010Asn)
c.8073G>C (p.Lys2691Asn)
n.2002G>C
c.8202G>C (p.Lys2734Asn)
2g.73490158G>TCA347267832ALMS1c.7818G>T (p.Lys2606Asn)
c.1210G>T
c.5270G>T
c.2265G>T (p.Lys755Asn)
c.8199G>T (p.Lys2733Asn)
c.896-29617G>T
c.3030G>T (p.Lys1010Asn)
c.8073G>T (p.Lys2691Asn)
n.2002G>T
c.8202G>T (p.Lys2734Asn)
2g.73490159G>ACA347267834ALMS1c.7819G>A (p.Val2607Ile)
c.1211G>A
c.5271G>A
c.2266G>A (p.Val756Ile)
c.8200G>A (p.Val2734Ile)
c.896-29616G>A
c.3030+1G>A (n.3030+1G>A)
c.8074G>A (p.Val2692Ile)
n.2003G>A
c.8203G>A (p.Val2735Ile)
2g.73490159G>CCA347267835ALMS1c.7819G>C (p.Val2607Leu)
c.1211G>C
c.5271G>C
c.2266G>C (p.Val756Leu)
c.8200G>C (p.Val2734Leu)
c.896-29616G>C
c.3030+1G>C (n.3030+1G>C)
c.8074G>C (p.Val2692Leu)
n.2003G>C
c.8203G>C (p.Val2735Leu)
2g.73490159G>TCA347267836ALMS1c.7819G>T (p.Val2607Phe)
c.1211G>T
c.5271G>T
c.2266G>T (p.Val756Phe)
c.8200G>T (p.Val2734Phe)
c.896-29616G>T
c.3030+1G>T (n.3030+1G>T)
c.8074G>T (p.Val2692Phe)
n.2003G>T
c.8203G>T (p.Val2735Phe)
2g.73490160T>ACA347267838ALMS1c.7820T>A (p.Val2607Asp)
c.1212T>A
c.5272T>A
c.2267T>A (p.Val756Asp)
c.8201T>A (p.Val2734Asp)
c.896-29615T>A
c.3030+2T>A (n.3030+2T>A)
c.8075T>A (p.Val2692Asp)
n.2004T>A
c.8204T>A (p.Val2735Asp)
2g.73490160T>CCA347267840ALMS1c.7820T>C (p.Val2607Ala)
c.1212T>C
c.5272T>C
c.2267T>C (p.Val756Ala)
c.8201T>C (p.Val2734Ala)
c.896-29615T>C
c.3030+2T>C (n.3030+2T>C)
c.8075T>C (p.Val2692Ala)
n.2004T>C
c.8204T>C (p.Val2735Ala)
 gnomAD v4
2g.73490160T>GCA347267842ALMS1c.7820T>G (p.Val2607Gly)
c.1212T>G
c.5272T>G
c.2267T>G (p.Val756Gly)
c.8201T>G (p.Val2734Gly)
c.896-29615T>G
c.3030+2T>G (n.3030+2T>G)
c.8075T>G (p.Val2692Gly)
n.2004T>G
c.8204T>G (p.Val2735Gly)
2g.73490161T>ACA427001125ALMS1c.7821T>A (p.Val2607=)
c.1213T>A
c.5273T>A
c.2268T>A (p.Val756=)
c.8202T>A (p.Val2734=)
c.896-29614T>A
c.3030+3T>A (n.3030+3T>A)
c.8076T>A (p.Val2692=)
n.2005T>A
c.8205T>A (p.Val2735=)
2g.73490161T>CCA427001126ALMS1c.7821T>C (p.Val2607=)
c.1213T>C
c.5273T>C
c.2268T>C (p.Val756=)
c.8202T>C (p.Val2734=)
c.896-29614T>C
c.3030+3T>C (n.3030+3T>C)
c.8076T>C (p.Val2692=)
n.2005T>C
c.8205T>C (p.Val2735=)
2g.73490161T>GCA427001128ALMS1c.7821T>G (p.Val2607=)
c.1213T>G
c.5273T>G
c.2268T>G (p.Val756=)
c.8202T>G (p.Val2734=)
c.896-29614T>G
c.3030+3T>G (n.3030+3T>G)
c.8076T>G (p.Val2692=)
n.2005T>G
c.8205T>G (p.Val2735=)
2g.73490162G>ACA1714424ALMS1c.7822G>A (p.Gly2608Ser)
c.1214G>A
c.5274G>A
c.2269G>A (p.Gly757Ser)
c.8203G>A (p.Gly2735Ser)
c.896-29613G>A
c.3030+4G>A (n.3030+4G>A)
c.8077G>A (p.Gly2693Ser)
n.2006G>A
c.8206G>A (p.Gly2736Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490162G>CCA347267843ALMS1c.7822G>C (p.Gly2608Arg)
c.1214G>C
c.5274G>C
c.2269G>C (p.Gly757Arg)
c.8203G>C (p.Gly2735Arg)
c.896-29613G>C
c.3030+4G>C (n.3030+4G>C)
c.8077G>C (p.Gly2693Arg)
n.2006G>C
c.8206G>C (p.Gly2736Arg)
 ClinVar dbSNP
2g.73490162G=CA1260981594ALMS1c.7822G= (p.Gly2608=)
c.1214G=
c.5274G=
c.2269G= (p.Gly757=)
c.8203G= (p.Gly2735=)
c.896-29613G=
c.3030+4G= (n.3030+4G=)
c.8077G= (p.Gly2693=)
n.2006G=
c.8206G= (p.Gly2736=)
2g.73490162G>TCA347267844ALMS1c.7822G>T (p.Gly2608Cys)
c.1214G>T
c.5274G>T
c.2269G>T (p.Gly757Cys)
c.8203G>T (p.Gly2735Cys)
c.896-29613G>T
c.3030+4G>T (n.3030+4G>T)
c.8077G>T (p.Gly2693Cys)
n.2006G>T
c.8206G>T (p.Gly2736Cys)
2g.73490163G>ACA347267850ALMS1c.7823G>A (p.Gly2608Asp)
c.1215G>A
c.5275G>A
c.2270G>A (p.Gly757Asp)
c.8204G>A (p.Gly2735Asp)
c.896-29612G>A
c.3030+5G>A (n.3030+5G>A)
c.8078G>A (p.Gly2693Asp)
n.2007G>A
c.8207G>A (p.Gly2736Asp)
2g.73490163G>CCA347267848ALMS1c.7823G>C (p.Gly2608Ala)
c.1215G>C
c.5275G>C
c.2270G>C (p.Gly757Ala)
c.8204G>C (p.Gly2735Ala)
c.896-29612G>C
c.3030+5G>C (n.3030+5G>C)
c.8078G>C (p.Gly2693Ala)
n.2007G>C
c.8207G>C (p.Gly2736Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.73490163G=CA1260981597ALMS1c.7823G= (p.Gly2608=)
c.1215G=
c.5275G=
c.2270G= (p.Gly757=)
c.8204G= (p.Gly2735=)
c.896-29612G=
c.3030+5G= (n.3030+5G=)
c.8078G= (p.Gly2693=)
n.2007G=
c.8207G= (p.Gly2736=)
2g.73490163G>TCA347267847ALMS1c.7823G>T (p.Gly2608Val)
c.1215G>T
c.5275G>T
c.2270G>T (p.Gly757Val)
c.8204G>T (p.Gly2735Val)
c.896-29612G>T
c.3030+5G>T (n.3030+5G>T)
c.8078G>T (p.Gly2693Val)
n.2007G>T
c.8207G>T (p.Gly2736Val)
2g.73490164T>ACA427001134ALMS1c.7824T>A (p.Gly2608=)
c.1216T>A
c.5276T>A
c.2271T>A (p.Gly757=)
c.8205T>A (p.Gly2735=)
c.896-29611T>A
c.3030+6T>A (n.3030+6T>A)
c.8079T>A (p.Gly2693=)
n.2008T>A
c.8208T>A (p.Gly2736=)
2g.73490164T>CCA427001135ALMS1c.7824T>C (p.Gly2608=)
c.1216T>C
c.5276T>C
c.2271T>C (p.Gly757=)
c.8205T>C (p.Gly2735=)
c.896-29611T>C
c.3030+6T>C (n.3030+6T>C)
c.8079T>C (p.Gly2693=)
n.2008T>C
c.8208T>C (p.Gly2736=)
2g.73490164T>GCA427001137ALMS1c.7824T>G (p.Gly2608=)
c.1216T>G
c.5276T>G
c.2271T>G (p.Gly757=)
c.8205T>G (p.Gly2735=)
c.896-29611T>G
c.3030+6T>G (n.3030+6T>G)
c.8079T>G (p.Gly2693=)
n.2008T>G
c.8208T>G (p.Gly2736=)
 ClinVar dbSNP
2g.73490165G>ACA1714425ALMS1c.7825G>A (p.Val2609Ile)
c.1217G>A
c.5277G>A
c.2272G>A (p.Val758Ile)
c.8206G>A (p.Val2736Ile)
c.896-29610G>A
c.3030+7G>A (n.3030+7G>A)
c.8080G>A (p.Val2694Ile)
n.2009G>A
c.8209G>A (p.Val2737Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490165G>CCA347267852ALMS1c.7825G>C (p.Val2609Leu)
c.1217G>C
c.5277G>C
c.2272G>C (p.Val758Leu)
c.8206G>C (p.Val2736Leu)
c.896-29610G>C
c.3030+7G>C (n.3030+7G>C)
c.8080G>C (p.Val2694Leu)
n.2009G>C
c.8209G>C (p.Val2737Leu)
2g.73490165G=CA1260981601ALMS1c.7825G= (p.Val2609=)
c.1217G=
c.5277G=
c.2272G= (p.Val758=)
c.8206G= (p.Val2736=)
c.896-29610G=
c.3030+7G= (n.3030+7G=)
c.8080G= (p.Val2694=)
n.2009G=
c.8209G= (p.Val2737=)
2g.73490165G>TCA347267853ALMS1c.7825G>T (p.Val2609Phe)
c.1217G>T
c.5277G>T
c.2272G>T (p.Val758Phe)
c.8206G>T (p.Val2736Phe)
c.896-29610G>T
c.3030+7G>T (n.3030+7G>T)
c.8080G>T (p.Val2694Phe)
n.2009G>T
c.8209G>T (p.Val2737Phe)
2g.73490166T>ACA347267855ALMS1c.7826T>A (p.Val2609Asp)
c.1218T>A
c.5278T>A
c.2273T>A (p.Val758Asp)
c.8207T>A (p.Val2736Asp)
c.896-29609T>A
c.3030+8T>A (n.3030+8T>A)
c.8081T>A (p.Val2694Asp)
n.2010T>A
c.8210T>A (p.Val2737Asp)
2g.73490166T>CCA347267856ALMS1c.7826T>C (p.Val2609Ala)
c.1218T>C
c.5278T>C
c.2273T>C (p.Val758Ala)
c.8207T>C (p.Val2736Ala)
c.896-29609T>C
c.3030+8T>C (n.3030+8T>C)
c.8081T>C (p.Val2694Ala)
n.2010T>C
c.8210T>C (p.Val2737Ala)
2g.73490166T>GCA347267858ALMS1c.7826T>G (p.Val2609Gly)
c.1218T>G
c.5278T>G
c.2273T>G (p.Val758Gly)
c.8207T>G (p.Val2736Gly)
c.896-29609T>G
c.3030+8T>G (n.3030+8T>G)
c.8081T>G (p.Val2694Gly)
n.2010T>G
c.8210T>G (p.Val2737Gly)
2g.73490167T>ACA427001146ALMS1c.7827T>A (p.Val2609=)
c.1219T>A
c.5279T>A
c.2274T>A (p.Val758=)
c.8208T>A (p.Val2736=)
c.896-29608T>A
c.3030+9T>A (n.3030+9T>A)
c.8082T>A (p.Val2694=)
n.2011T>A
c.8211T>A (p.Val2737=)
2g.73490167T>CCA427001149ALMS1c.7827T>C (p.Val2609=)
c.1219T>C
c.5279T>C
c.2274T>C (p.Val758=)
c.8208T>C (p.Val2736=)
c.896-29608T>C
c.3030+9T>C (n.3030+9T>C)
c.8082T>C (p.Val2694=)
n.2011T>C
c.8211T>C (p.Val2737=)
 gnomAD v4
2g.73490167T>GCA427001147ALMS1c.7827T>G (p.Val2609=)
c.1219T>G
c.5279T>G
c.2274T>G (p.Val758=)
c.8208T>G (p.Val2736=)
c.896-29608T>G
c.3030+9T>G (n.3030+9T>G)
c.8082T>G (p.Val2694=)
n.2011T>G
c.8211T>G (p.Val2737=)
2g.73490168A>CCA347267860ALMS1c.7828A>C (p.Thr2610Pro)
c.1220A>C
c.5280A>C
c.2275A>C (p.Thr759Pro)
c.8209A>C (p.Thr2737Pro)
c.896-29607A>C
c.3030+10A>C (n.3030+10A>C)
c.8083A>C (p.Thr2695Pro)
n.2012A>C
c.8212A>C (p.Thr2738Pro)
2g.73490168A>GCA347267861ALMS1c.7828A>G (p.Thr2610Ala)
c.1220A>G
c.5280A>G
c.2275A>G (p.Thr759Ala)
c.8209A>G (p.Thr2737Ala)
c.896-29607A>G
c.3030+10A>G (n.3030+10A>G)
c.8083A>G (p.Thr2695Ala)
n.2012A>G
c.8212A>G (p.Thr2738Ala)
2g.73490168A>TCA347267863ALMS1c.7828A>T (p.Thr2610Ser)
c.1220A>T
c.5280A>T
c.2275A>T (p.Thr759Ser)
c.8209A>T (p.Thr2737Ser)
c.896-29607A>T
c.3030+10A>T (n.3030+10A>T)
c.8083A>T (p.Thr2695Ser)
n.2012A>T
c.8212A>T (p.Thr2738Ser)
2g.73490169C>ACA347267864ALMS1c.7829C>A (p.Thr2610Asn)
c.1221C>A
c.5281C>A
c.2276C>A (p.Thr759Asn)
c.8210C>A (p.Thr2737Asn)
c.896-29606C>A
c.3030+11C>A (n.3030+11C>A)
c.8084C>A (p.Thr2695Asn)
n.2013C>A
c.8213C>A (p.Thr2738Asn)
2g.73490169C=CA1260981605ALMS1c.7829C= (p.Thr2610=)
c.1221C=
c.5281C=
c.2276C= (p.Thr759=)
c.8210C= (p.Thr2737=)
c.896-29606C=
c.3030+11C= (n.3030+11C=)
c.8084C= (p.Thr2695=)
n.2013C=
c.8213C= (p.Thr2738=)
2g.73490169C>GCA347267865ALMS1c.7829C>G (p.Thr2610Ser)
c.1221C>G
c.5281C>G
c.2276C>G (p.Thr759Ser)
c.8210C>G (p.Thr2737Ser)
c.896-29606C>G
c.3030+11C>G (n.3030+11C>G)
c.8084C>G (p.Thr2695Ser)
n.2013C>G
c.8213C>G (p.Thr2738Ser)
 gnomAD v4
2g.73490169C>TCA1714426ALMS1c.7829C>T (p.Thr2610Ile)
c.1221C>T
c.5281C>T
c.2276C>T (p.Thr759Ile)
c.8210C>T (p.Thr2737Ile)
c.896-29606C>T
c.3030+11C>T (n.3030+11C>T)
c.8084C>T (p.Thr2695Ile)
n.2013C>T
c.8213C>T (p.Thr2738Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490170T>ACA427001154ALMS1c.7830T>A (p.Thr2610=)
c.1222T>A
c.5282T>A
c.2277T>A (p.Thr759=)
c.8211T>A (p.Thr2737=)
c.896-29605T>A
c.3030+12T>A (n.3030+12T>A)
c.8085T>A (p.Thr2695=)
n.2014T>A
c.8214T>A (p.Thr2738=)
2g.73490170T>CCA427001155ALMS1c.7830T>C (p.Thr2610=)
c.1222T>C
c.5282T>C
c.2277T>C (p.Thr759=)
c.8211T>C (p.Thr2737=)
c.896-29605T>C
c.3030+12T>C (n.3030+12T>C)
c.8085T>C (p.Thr2695=)
n.2014T>C
c.8214T>C (p.Thr2738=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73490170T>GCA1714427ALMS1c.7830T>G (p.Thr2610=)
c.1222T>G
c.5282T>G
c.2277T>G (p.Thr759=)
c.8211T>G (p.Thr2737=)
c.896-29605T>G
c.3030+12T>G (n.3030+12T>G)
c.8085T>G (p.Thr2695=)
n.2014T>G
c.8214T>G (p.Thr2738=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490170T=CA1260981613ALMS1c.7830T= (p.Thr2610=)
c.1222T=
c.5282T=
c.2277T= (p.Thr759=)
c.8211T= (p.Thr2737=)
c.896-29605T=
c.3030+12T= (n.3030+12T=)
c.8085T= (p.Thr2695=)
n.2014T=
c.8214T= (p.Thr2738=)
2g.73490171G>ACA347267871ALMS1c.7831G>A (p.Glu2611Lys)
c.1223G>A
c.5283G>A
c.2278G>A (p.Glu760Lys)
c.8212G>A (p.Glu2738Lys)
c.896-29604G>A
c.3030+13G>A (n.3030+13G>A)
c.8086G>A (p.Glu2696Lys)
n.2015G>A
c.8215G>A (p.Glu2739Lys)
2g.73490171G>CCA347267868ALMS1c.7831G>C (p.Glu2611Gln)
c.1223G>C
c.5283G>C
c.2278G>C (p.Glu760Gln)
c.8212G>C (p.Glu2738Gln)
c.896-29604G>C
c.3030+13G>C (n.3030+13G>C)
c.8086G>C (p.Glu2696Gln)
n.2015G>C
c.8215G>C (p.Glu2739Gln)
2g.73490171G>TCA347267870ALMS1c.7831G>T (p.Glu2611Ter)
c.1223G>T
c.5283G>T
c.2278G>T (p.Glu760Ter)
c.8212G>T (p.Glu2738Ter)
c.896-29604G>T
c.3030+13G>T (n.3030+13G>T)
c.8086G>T (p.Glu2696Ter)
n.2015G>T
c.8215G>T (p.Glu2739Ter)
2g.73490172A>CCA347267873ALMS1c.7832A>C (p.Glu2611Ala)
c.1224A>C
c.5284A>C
c.2279A>C (p.Glu760Ala)
c.8213A>C (p.Glu2738Ala)
c.896-29603A>C
c.3030+14A>C (n.3030+14A>C)
c.8087A>C (p.Glu2696Ala)
n.2016A>C
c.8216A>C (p.Glu2739Ala)
2g.73490172A>GCA347267875ALMS1c.7832A>G (p.Glu2611Gly)
c.1224A>G
c.5284A>G
c.2279A>G (p.Glu760Gly)
c.8213A>G (p.Glu2738Gly)
c.896-29603A>G
c.3030+14A>G (n.3030+14A>G)
c.8087A>G (p.Glu2696Gly)
n.2016A>G
c.8216A>G (p.Glu2739Gly)
2g.73490172A>TCA347267877ALMS1c.7832A>T (p.Glu2611Val)
c.1224A>T
c.5284A>T
c.2279A>T (p.Glu760Val)
c.8213A>T (p.Glu2738Val)
c.896-29603A>T
c.3030+14A>T (n.3030+14A>T)
c.8087A>T (p.Glu2696Val)
n.2016A>T
c.8216A>T (p.Glu2739Val)
2g.73490173A=CA1260981623ALMS1c.7833A= (p.Glu2611=)
c.1225A=
c.5285A=
c.2280A= (p.Glu760=)
c.8214A= (p.Glu2738=)
c.896-29602A=
c.3030+15A= (n.3030+15A=)
c.8088A= (p.Glu2696=)
n.2017A=
c.8217A= (p.Glu2739=)
2g.73490173A>CCA1714428ALMS1c.7833A>C (p.Glu2611Asp)
c.1225A>C
c.5285A>C
c.2280A>C (p.Glu760Asp)
c.8214A>C (p.Glu2738Asp)
c.896-29602A>C
c.3030+15A>C (n.3030+15A>C)
c.8088A>C (p.Glu2696Asp)
n.2017A>C
c.8217A>C (p.Glu2739Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490173A>GCA427001164ALMS1c.7833A>G (p.Glu2611=)
c.1225A>G
c.5285A>G
c.2280A>G (p.Glu760=)
c.8214A>G (p.Glu2738=)
c.896-29602A>G
c.3030+15A>G (n.3030+15A>G)
c.8088A>G (p.Glu2696=)
n.2017A>G
c.8217A>G (p.Glu2739=)
2g.73490173A>TCA347267879ALMS1c.7833A>T (p.Glu2611Asp)
c.1225A>T
c.5285A>T
c.2280A>T (p.Glu760Asp)
c.8214A>T (p.Glu2738Asp)
c.896-29602A>T
c.3030+15A>T (n.3030+15A>T)
c.8088A>T (p.Glu2696Asp)
n.2017A>T
c.8217A>T (p.Glu2739Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73490174G>ACA347267881ALMS1c.7834G>A (p.Gly2612Ser)
c.1226G>A
c.5286G>A
c.2281G>A (p.Gly761Ser)
c.8215G>A (p.Gly2739Ser)
c.896-29601G>A
c.3030+16G>A (n.3030+16G>A)
c.8089G>A (p.Gly2697Ser)
n.2018G>A
c.8218G>A (p.Gly2740Ser)
 ClinVar
2g.73490174G>CCA50378247ALMS1c.7834G>C (p.Gly2612Arg)
c.1226G>C
c.5286G>C
c.2281G>C (p.Gly761Arg)
c.8215G>C (p.Gly2739Arg)
c.896-29601G>C
c.3030+16G>C (n.3030+16G>C)
c.8089G>C (p.Gly2697Arg)
n.2018G>C
c.8218G>C (p.Gly2740Arg)
 dbSNP
2g.73490174G=CA1260981627ALMS1c.7834G= (p.Gly2612=)
c.1226G=
c.5286G=
c.2281G= (p.Gly761=)
c.8215G= (p.Gly2739=)
c.896-29601G=
c.3030+16G= (n.3030+16G=)
c.8089G= (p.Gly2697=)
n.2018G=
c.8218G= (p.Gly2740=)
2g.73490174G>TCA347267882ALMS1c.7834G>T (p.Gly2612Cys)
c.1226G>T
c.5286G>T
c.2281G>T (p.Gly761Cys)
c.8215G>T (p.Gly2739Cys)
c.896-29601G>T
c.3030+16G>T (n.3030+16G>T)
c.8089G>T (p.Gly2697Cys)
n.2018G>T
c.8218G>T (p.Gly2740Cys)
2g.73490175G>ACA347267883ALMS1c.7835G>A (p.Gly2612Asp)
c.1227G>A
c.5287G>A
c.2282G>A (p.Gly761Asp)
c.8216G>A (p.Gly2739Asp)
c.896-29600G>A
c.3030+17G>A (n.3030+17G>A)
c.8090G>A (p.Gly2697Asp)
n.2019G>A
c.8219G>A (p.Gly2740Asp)
 gnomAD v4
2g.73490175G>CCA347267885ALMS1c.7835G>C (p.Gly2612Ala)
c.1227G>C
c.5287G>C
c.2282G>C (p.Gly761Ala)
c.8216G>C (p.Gly2739Ala)
c.896-29600G>C
c.3030+17G>C (n.3030+17G>C)
c.8090G>C (p.Gly2697Ala)
n.2019G>C
c.8219G>C (p.Gly2740Ala)
2g.73490175G=CA1260981630ALMS1c.7835G= (p.Gly2612=)
c.1227G=
c.5287G=
c.2282G= (p.Gly761=)
c.8216G= (p.Gly2739=)
c.896-29600G=
c.3030+17G= (n.3030+17G=)
c.8090G= (p.Gly2697=)
n.2019G=
c.8219G= (p.Gly2740=)
2g.73490175G>TCA347267886ALMS1c.7835G>T (p.Gly2612Val)
c.1227G>T
c.5287G>T
c.2282G>T (p.Gly761Val)
c.8216G>T (p.Gly2739Val)
c.896-29600G>T
c.3030+17G>T (n.3030+17G>T)
c.8090G>T (p.Gly2697Val)
n.2019G>T
c.8219G>T (p.Gly2740Val)
 dbSNP gnomAD v2
2g.73490176T>ACA427001173ALMS1c.7836T>A (p.Gly2612=)
c.1228T>A
c.5288T>A
c.2283T>A (p.Gly761=)
c.8217T>A (p.Gly2739=)
c.896-29599T>A
c.3030+18T>A (n.3030+18T>A)
c.8091T>A (p.Gly2697=)
n.2020T>A
c.8220T>A (p.Gly2740=)
2g.73490176T>CCA427001175ALMS1c.7836T>C (p.Gly2612=)
c.1228T>C
c.5288T>C
c.2283T>C (p.Gly761=)
c.8217T>C (p.Gly2739=)
c.896-29599T>C
c.3030+18T>C (n.3030+18T>C)
c.8091T>C (p.Gly2697=)
n.2020T>C
c.8220T>C (p.Gly2740=)
 gnomAD v4
2g.73490176T>GCA427001176ALMS1c.7836T>G (p.Gly2612=)
c.1228T>G
c.5288T>G
c.2283T>G (p.Gly761=)
c.8217T>G (p.Gly2739=)
c.896-29599T>G
c.3030+18T>G (n.3030+18T>G)
c.8091T>G (p.Gly2697=)
n.2020T>G
c.8220T>G (p.Gly2740=)
2g.73490177A>CCA347267889ALMS1c.7837A>C (p.Ser2613Arg)
c.1229A>C
c.5289A>C
c.2284A>C (p.Ser762Arg)
c.8218A>C (p.Ser2740Arg)
c.896-29598A>C
c.3030+19A>C (n.3030+19A>C)
c.8092A>C (p.Ser2698Arg)
n.2021A>C
c.8221A>C (p.Ser2741Arg)
2g.73490177A>GCA347267888ALMS1c.7837A>G (p.Ser2613Gly)
c.1229A>G
c.5289A>G
c.2284A>G (p.Ser762Gly)
c.8218A>G (p.Ser2740Gly)
c.896-29598A>G
c.3030+19A>G (n.3030+19A>G)
c.8092A>G (p.Ser2698Gly)
n.2021A>G
c.8221A>G (p.Ser2741Gly)
 ClinVar
2g.73490177A>TCA347267887ALMS1c.7837A>T (p.Ser2613Cys)
c.1229A>T
c.5289A>T
c.2284A>T (p.Ser762Cys)
c.8218A>T (p.Ser2740Cys)
c.896-29598A>T
c.3030+19A>T (n.3030+19A>T)
c.8092A>T (p.Ser2698Cys)
n.2021A>T
c.8221A>T (p.Ser2741Cys)
2g.73490178G>ACA347267891ALMS1c.7838G>A (p.Ser2613Asn)
c.1230G>A
c.5290G>A
c.2285G>A (p.Ser762Asn)
c.8219G>A (p.Ser2740Asn)
c.896-29597G>A
c.3030+20G>A (n.3030+20G>A)
c.8093G>A (p.Ser2698Asn)
n.2022G>A
c.8222G>A (p.Ser2741Asn)
2g.73490178G>CCA347267894ALMS1c.7838G>C (p.Ser2613Thr)
c.1230G>C
c.5290G>C
c.2285G>C (p.Ser762Thr)
c.8219G>C (p.Ser2740Thr)
c.896-29597G>C
c.3030+20G>C (n.3030+20G>C)
c.8093G>C (p.Ser2698Thr)
n.2022G>C
c.8222G>C (p.Ser2741Thr)
2g.73490178G=CA1260981633ALMS1c.7838G= (p.Ser2613=)
c.1230G=
c.5290G=
c.2285G= (p.Ser762=)
c.8219G= (p.Ser2740=)
c.896-29597G=
c.3030+20G= (n.3030+20G=)
c.8093G= (p.Ser2698=)
n.2022G=
c.8222G= (p.Ser2741=)
2g.73490178G>TCA347267893ALMS1c.7838G>T (p.Ser2613Ile)
c.1230G>T
c.5290G>T
c.2285G>T (p.Ser762Ile)
c.8219G>T (p.Ser2740Ile)
c.896-29597G>T
c.3030+20G>T (n.3030+20G>T)
c.8093G>T (p.Ser2698Ile)
n.2022G>T
c.8222G>T (p.Ser2741Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.73490179C>ACA50378264ALMS1c.7839C>A (p.Ser2613Arg)
c.1231C>A
c.5291C>A
c.2286C>A (p.Ser762Arg)
c.8220C>A (p.Ser2740Arg)
c.896-29596C>A
c.3030+21C>A (n.3030+21C>A)
c.8094C>A (p.Ser2698Arg)
n.2023C>A
c.8223C>A (p.Ser2741Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73490179C=CA1260981637ALMS1c.7839C= (p.Ser2613=)
c.1231C=
c.5291C=
c.2286C= (p.Ser762=)
c.8220C= (p.Ser2740=)
c.896-29596C=
c.3030+21C= (n.3030+21C=)
c.8094C= (p.Ser2698=)
n.2023C=
c.8223C= (p.Ser2741=)
2g.73490179C>GCA347267895ALMS1c.7839C>G (p.Ser2613Arg)
c.1231C>G
c.5291C>G
c.2286C>G (p.Ser762Arg)
c.8220C>G (p.Ser2740Arg)
c.896-29596C>G
c.3030+21C>G (n.3030+21C>G)
c.8094C>G (p.Ser2698Arg)
n.2023C>G
c.8223C>G (p.Ser2741Arg)
2g.73490179C>TCA427001182ALMS1c.7839C>T (p.Ser2613=)
c.1231C>T
c.5291C>T
c.2286C>T (p.Ser762=)
c.8220C>T (p.Ser2740=)
c.896-29596C>T
c.3030+21C>T (n.3030+21C>T)
c.8094C>T (p.Ser2698=)
n.2023C>T
c.8223C>T (p.Ser2741=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73490180C>ACA347267897ALMS1c.7840C>A (p.Gln2614Lys)
c.1232C>A
c.5292C>A
c.2287C>A (p.Gln763Lys)
c.8221C>A (p.Gln2741Lys)
c.896-29595C>A
c.3030+22C>A (n.3030+22C>A)
c.8095C>A (p.Gln2699Lys)
n.2024C>A
c.8224C>A (p.Gln2742Lys)
2g.73490180C>GCA347267900ALMS1c.7840C>G (p.Gln2614Glu)
c.1232C>G
c.5292C>G
c.2287C>G (p.Gln763Glu)
c.8221C>G (p.Gln2741Glu)
c.896-29595C>G
c.3030+22C>G (n.3030+22C>G)
c.8095C>G (p.Gln2699Glu)
n.2024C>G
c.8224C>G (p.Gln2742Glu)
2g.73490180C>TCA347267898ALMS1c.7840C>T (p.Gln2614Ter)
c.1232C>T
c.5292C>T
c.2287C>T (p.Gln763Ter)
c.8221C>T (p.Gln2741Ter)
c.896-29595C>T
c.3030+22C>T (n.3030+22C>T)
c.8095C>T (p.Gln2699Ter)
n.2024C>T
c.8224C>T (p.Gln2742Ter)
 ClinVar
2g.73490181A>CCA347267902ALMS1c.7841A>C (p.Gln2614Pro)
c.1233A>C
c.5293A>C
c.2288A>C (p.Gln763Pro)
c.8222A>C (p.Gln2741Pro)
c.896-29594A>C
c.3030+23A>C (n.3030+23A>C)
c.8096A>C (p.Gln2699Pro)
n.2025A>C
c.8225A>C (p.Gln2742Pro)
2g.73490181A>GCA347267903ALMS1c.7841A>G (p.Gln2614Arg)
c.1233A>G
c.5293A>G
c.2288A>G (p.Gln763Arg)
c.8222A>G (p.Gln2741Arg)
c.896-29594A>G
c.3030+23A>G (n.3030+23A>G)
c.8096A>G (p.Gln2699Arg)
n.2025A>G
c.8225A>G (p.Gln2742Arg)
2g.73490181A>TCA347267905ALMS1c.7841A>T (p.Gln2614Leu)
c.1233A>T
c.5293A>T
c.2288A>T (p.Gln763Leu)
c.8222A>T (p.Gln2741Leu)
c.896-29594A>T
c.3030+23A>T (n.3030+23A>T)
c.8096A>T (p.Gln2699Leu)
n.2025A>T
c.8225A>T (p.Gln2742Leu)
2g.73490182G>ACA427001190ALMS1c.7842G>A (p.Gln2614=)
c.1234G>A
c.5294G>A
c.2289G>A (p.Gln763=)
c.8223G>A (p.Gln2741=)
c.896-29593G>A
c.3030+24G>A (n.3030+24G>A)
c.8097G>A (p.Gln2699=)
n.2026G>A
c.8226G>A (p.Gln2742=)
 ClinVar
2g.73490182G>CCA347267906ALMS1c.7842G>C (p.Gln2614His)
c.1234G>C
c.5294G>C
c.2289G>C (p.Gln763His)
c.8223G>C (p.Gln2741His)
c.896-29593G>C
c.3030+24G>C (n.3030+24G>C)
c.8097G>C (p.Gln2699His)
n.2026G>C
c.8226G>C (p.Gln2742His)
2g.73490182G=CA1260981639ALMS1c.7842G= (p.Gln2614=)
c.1234G=
c.5294G=
c.2289G= (p.Gln763=)
c.8223G= (p.Gln2741=)
c.896-29593G=
c.3030+24G= (n.3030+24G=)
c.8097G= (p.Gln2699=)
n.2026G=
c.8226G= (p.Gln2742=)
2g.73490182G>TCA347267908ALMS1c.7842G>T (p.Gln2614His)
c.1234G>T
c.5294G>T
c.2289G>T (p.Gln763His)
c.8223G>T (p.Gln2741His)
c.896-29593G>T
c.3030+24G>T (n.3030+24G>T)
c.8097G>T (p.Gln2699His)
n.2026G>T
c.8226G>T (p.Gln2742His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73490183T>ACA347267910ALMS1c.7843T>A (p.Cys2615Ser)
c.1235T>A
c.5295T>A
c.2290T>A (p.Cys764Ser)
c.8224T>A (p.Cys2742Ser)
c.896-29592T>A
c.3030+25T>A (n.3030+25T>A)
c.8098T>A (p.Cys2700Ser)
n.2027T>A
c.8227T>A (p.Cys2743Ser)
2g.73490183T>CCA50378279ALMS1c.7843T>C (p.Cys2615Arg)
c.1235T>C
c.5295T>C
c.2290T>C (p.Cys764Arg)
c.8224T>C (p.Cys2742Arg)
c.896-29592T>C
c.3030+25T>C (n.3030+25T>C)
c.8098T>C (p.Cys2700Arg)
n.2027T>C
c.8227T>C (p.Cys2743Arg)
 dbSNP gnomAD v4
2g.73490183T>GCA16042402ALMS1c.7843T>G (p.Cys2615Gly)
c.1235T>G
c.5295T>G
c.2290T>G (p.Cys764Gly)
c.8224T>G (p.Cys2742Gly)
c.896-29592T>G
c.3030+25T>G (n.3030+25T>G)
c.8098T>G (p.Cys2700Gly)
n.2027T>G
c.8227T>G (p.Cys2743Gly)
 ClinVar dbSNP gnomAD v4
2g.73490183T=CA1260981647ALMS1c.7843T= (p.Cys2615=)
c.1235T=
c.5295T=
c.2290T= (p.Cys764=)
c.8224T= (p.Cys2742=)
c.896-29592T=
c.3030+25T= (n.3030+25T=)
c.8098T= (p.Cys2700=)
n.2027T=
c.8227T= (p.Cys2743=)
2g.73490184G>ACA347267913ALMS1c.7844G>A (p.Cys2615Tyr)
c.1236G>A
c.5296G>A
c.2291G>A (p.Cys764Tyr)
c.8225G>A (p.Cys2742Tyr)
c.896-29591G>A
c.3030+26G>A (n.3030+26G>A)
c.8099G>A (p.Cys2700Tyr)
n.2028G>A
c.8228G>A (p.Cys2743Tyr)
 gnomAD v4
2g.73490184G>CCA347267915ALMS1c.7844G>C (p.Cys2615Ser)
c.1236G>C
c.5296G>C
c.2291G>C (p.Cys764Ser)
c.8225G>C (p.Cys2742Ser)
c.896-29591G>C
c.3030+26G>C (n.3030+26G>C)
c.8099G>C (p.Cys2700Ser)
n.2028G>C
c.8228G>C (p.Cys2743Ser)
 ClinVar gnomAD v4
2g.73490184G>TCA347267916ALMS1c.7844G>T (p.Cys2615Phe)
c.1236G>T
c.5296G>T
c.2291G>T (p.Cys764Phe)
c.8225G>T (p.Cys2742Phe)
c.896-29591G>T
c.3030+26G>T (n.3030+26G>T)
c.8099G>T (p.Cys2700Phe)
n.2028G>T
c.8228G>T (p.Cys2743Phe)
2g.73490185T>ACA347267919ALMS1c.7845T>A (p.Cys2615Ter)
c.1237T>A
c.5297T>A
c.2292T>A (p.Cys764Ter)
c.8226T>A (p.Cys2742Ter)
c.896-29590T>A
c.3030+27T>A (n.3030+27T>A)
c.8100T>A (p.Cys2700Ter)
n.2029T>A
c.8229T>A (p.Cys2743Ter)
2g.73490185T>CCA427001198ALMS1c.7845T>C (p.Cys2615=)
c.1237T>C
c.5297T>C
c.2292T>C (p.Cys764=)
c.8226T>C (p.Cys2742=)
c.896-29590T>C
c.3030+27T>C (n.3030+27T>C)
c.8100T>C (p.Cys2700=)
n.2029T>C
c.8229T>C (p.Cys2743=)
2g.73490185T>GCA347267918ALMS1c.7845T>G (p.Cys2615Trp)
c.1237T>G
c.5297T>G
c.2292T>G (p.Cys764Trp)
c.8226T>G (p.Cys2742Trp)
c.896-29590T>G
c.3030+27T>G (n.3030+27T>G)
c.8100T>G (p.Cys2700Trp)
n.2029T>G
c.8229T>G (p.Cys2743Trp)
2g.73490186A>CCA347267921ALMS1c.7846A>C (p.Thr2616Pro)
c.1238A>C
c.5298A>C
c.2293A>C (p.Thr765Pro)
c.8227A>C (p.Thr2743Pro)
c.896-29589A>C
c.3030+28A>C (n.3030+28A>C)
c.8101A>C (p.Thr2701Pro)
n.2030A>C
c.8230A>C (p.Thr2744Pro)
2g.73490186A>GCA347267922ALMS1c.7846A>G (p.Thr2616Ala)
c.1238A>G
c.5298A>G
c.2293A>G (p.Thr765Ala)
c.8227A>G (p.Thr2743Ala)
c.896-29589A>G
c.3030+28A>G (n.3030+28A>G)
c.8101A>G (p.Thr2701Ala)
n.2030A>G
c.8230A>G (p.Thr2744Ala)
 gnomAD v4
2g.73490186A>TCA347267924ALMS1c.7846A>T (p.Thr2616Ser)
c.1238A>T
c.5298A>T
c.2293A>T (p.Thr765Ser)
c.8227A>T (p.Thr2743Ser)
c.896-29589A>T
c.3030+28A>T (n.3030+28A>T)
c.8101A>T (p.Thr2701Ser)
n.2030A>T
c.8230A>T (p.Thr2744Ser)
2g.73490187C>ACA347267926ALMS1c.7847C>A (p.Thr2616Asn)
c.1239C>A
c.5299C>A
c.2294C>A (p.Thr765Asn)
c.8228C>A (p.Thr2743Asn)
c.896-29588C>A
c.3030+29C>A (n.3030+29C>A)
c.8102C>A (p.Thr2701Asn)
n.2031C>A
c.8231C>A (p.Thr2744Asn)
2g.73490187C=CA1260981650ALMS1c.7847C= (p.Thr2616=)
c.1239C=
c.5299C=
c.2294C= (p.Thr765=)
c.8228C= (p.Thr2743=)
c.896-29588C=
c.3030+29C= (n.3030+29C=)
c.8102C= (p.Thr2701=)
n.2031C=
c.8231C= (p.Thr2744=)
2g.73490187C>GCA347267927ALMS1c.7847C>G (p.Thr2616Ser)
c.1239C>G
c.5299C>G
c.2294C>G (p.Thr765Ser)
c.8228C>G (p.Thr2743Ser)
c.896-29588C>G
c.3030+29C>G (n.3030+29C>G)
c.8102C>G (p.Thr2701Ser)
n.2031C>G
c.8231C>G (p.Thr2744Ser)
 dbSNP
2g.73490187C>TCA347267929ALMS1c.7847C>T (p.Thr2616Ile)
c.1239C>T
c.5299C>T
c.2294C>T (p.Thr765Ile)
c.8228C>T (p.Thr2743Ile)
c.896-29588C>T
c.3030+29C>T (n.3030+29C>T)
c.8102C>T (p.Thr2701Ile)
n.2031C>T
c.8231C>T (p.Thr2744Ile)
 gnomAD v4
2g.73490188T>ACA427001210ALMS1c.7848T>A (p.Thr2616=)
c.1240T>A
c.5300T>A
c.2295T>A (p.Thr765=)
c.8229T>A (p.Thr2743=)
c.896-29587T>A
c.3030+30T>A (n.3030+30T>A)
c.8103T>A (p.Thr2701=)
n.2032T>A
c.8232T>A (p.Thr2744=)
 ClinVar dbSNP
2g.73490188T>CCA427001209ALMS1c.7848T>C (p.Thr2616=)
c.1240T>C
c.5300T>C
c.2295T>C (p.Thr765=)
c.8229T>C (p.Thr2743=)
c.896-29587T>C
c.3030+30T>C (n.3030+30T>C)
c.8103T>C (p.Thr2701=)
n.2032T>C
c.8232T>C (p.Thr2744=)
 ClinVar dbSNP gnomAD v4
2g.73490188T>GCA427001207ALMS1c.7848T>G (p.Thr2616=)
c.1240T>G
c.5300T>G
c.2295T>G (p.Thr765=)
c.8229T>G (p.Thr2743=)
c.896-29587T>G
c.3030+30T>G (n.3030+30T>G)
c.8103T>G (p.Thr2701=)
n.2032T>G
c.8232T>G (p.Thr2744=)
2g.73490189G>ACA347267931ALMS1c.7849G>A (p.Gly2617Arg)
c.1241G>A
c.5301G>A
c.2296G>A (p.Gly766Arg)
c.8230G>A (p.Gly2744Arg)
c.896-29586G>A
c.3030+31G>A (n.3030+31G>A)
c.8104G>A (p.Gly2702Arg)
n.2033G>A
c.8233G>A (p.Gly2745Arg)
2g.73490189G>CCA347267932ALMS1c.7849G>C (p.Gly2617Arg)
c.1241G>C
c.5301G>C
c.2296G>C (p.Gly766Arg)
c.8230G>C (p.Gly2744Arg)
c.896-29586G>C
c.3030+31G>C (n.3030+31G>C)
c.8104G>C (p.Gly2702Arg)
n.2033G>C
c.8233G>C (p.Gly2745Arg)
2g.73490189G>TCA347267933ALMS1c.7849G>T (p.Gly2617Ter)
c.1241G>T
c.5301G>T
c.2296G>T (p.Gly766Ter)
c.8230G>T (p.Gly2744Ter)
c.896-29586G>T
c.3030+31G>T (n.3030+31G>T)
c.8104G>T (p.Gly2702Ter)
n.2033G>T
c.8233G>T (p.Gly2745Ter)
2g.73490190G>ACA347267935ALMS1c.7850G>A (p.Gly2617Glu)
c.1242G>A
c.5302G>A
c.2297G>A (p.Gly766Glu)
c.8231G>A (p.Gly2744Glu)
c.896-29585G>A
c.3030+32G>A (n.3030+32G>A)
c.8105G>A (p.Gly2702Glu)
n.2034G>A
c.8234G>A (p.Gly2745Glu)
2g.73490190G>CCA347267937ALMS1c.7850G>C (p.Gly2617Ala)
c.1242G>C
c.5302G>C
c.2297G>C (p.Gly766Ala)
c.8231G>C (p.Gly2744Ala)
c.896-29585G>C
c.3030+32G>C (n.3030+32G>C)
c.8105G>C (p.Gly2702Ala)
n.2034G>C
c.8234G>C (p.Gly2745Ala)
2g.73490190G>TCA347267938ALMS1c.7850G>T (p.Gly2617Val)
c.1242G>T
c.5302G>T
c.2297G>T (p.Gly766Val)
c.8231G>T (p.Gly2744Val)
c.896-29585G>T
c.3030+32G>T (n.3030+32G>T)
c.8105G>T (p.Gly2702Val)
n.2034G>T
c.8234G>T (p.Gly2745Val)
2g.73490191A>CCA427001218ALMS1c.7851A>C (p.Gly2617=)
c.1243A>C
c.5303A>C
c.2298A>C (p.Gly766=)
c.8232A>C (p.Gly2744=)
c.896-29584A>C
c.3030+33A>C (n.3030+33A>C)
c.8106A>C (p.Gly2702=)
n.2035A>C
c.8235A>C (p.Gly2745=)
2g.73490191A>GCA427001217ALMS1c.7851A>G (p.Gly2617=)
c.1243A>G
c.5303A>G
c.2298A>G (p.Gly766=)
c.8232A>G (p.Gly2744=)
c.896-29584A>G
c.3030+33A>G (n.3030+33A>G)
c.8106A>G (p.Gly2702=)
n.2035A>G
c.8235A>G (p.Gly2745=)
2g.73490191A>TCA427001215ALMS1c.7851A>T (p.Gly2617=)
c.1243A>T
c.5303A>T
c.2298A>T (p.Gly766=)
c.8232A>T (p.Gly2744=)
c.896-29584A>T
c.3030+33A>T (n.3030+33A>T)
c.8106A>T (p.Gly2702=)
n.2035A>T
c.8235A>T (p.Gly2745=)
 gnomAD v4
2g.73490192G>ACA347267942ALMS1c.7852G>A (p.Ala2618Thr)
c.1244G>A
c.5304G>A
c.2299G>A (p.Ala767Thr)
c.8233G>A (p.Ala2745Thr)
c.896-29583G>A
c.3030+34G>A (n.3030+34G>A)
c.8107G>A (p.Ala2703Thr)
n.2036G>A
c.8236G>A (p.Ala2746Thr)
 gnomAD v4
2g.73490192G>CCA347267941ALMS1c.7852G>C (p.Ala2618Pro)
c.1244G>C
c.5304G>C
c.2299G>C (p.Ala767Pro)
c.8233G>C (p.Ala2745Pro)
c.896-29583G>C
c.3030+34G>C (n.3030+34G>C)
c.8107G>C (p.Ala2703Pro)
n.2036G>C
c.8236G>C (p.Ala2746Pro)
2g.73490192G>TCA347267940ALMS1c.7852G>T (p.Ala2618Ser)
c.1244G>T
c.5304G>T
c.2299G>T (p.Ala767Ser)
c.8233G>T (p.Ala2745Ser)
c.896-29583G>T
c.3030+34G>T (n.3030+34G>T)
c.8107G>T (p.Ala2703Ser)
n.2036G>T
c.8236G>T (p.Ala2746Ser)
 gnomAD v4
2g.73490193C>ACA347267946ALMS1c.7853C>A (p.Ala2618Glu)
c.1245C>A
c.5305C>A
c.2300C>A (p.Ala767Glu)
c.8234C>A (p.Ala2745Glu)
c.896-29582C>A
c.3030+35C>A (n.3030+35C>A)
c.8108C>A (p.Ala2703Glu)
n.2037C>A
c.8237C>A (p.Ala2746Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.73490193C=CA1260981652ALMS1c.7853C= (p.Ala2618=)
c.1245C=
c.5305C=
c.2300C= (p.Ala767=)
c.8234C= (p.Ala2745=)
c.896-29582C=
c.3030+35C= (n.3030+35C=)
c.8108C= (p.Ala2703=)
n.2037C=
c.8237C= (p.Ala2746=)
2g.73490193C>GCA347267944ALMS1c.7853C>G (p.Ala2618Gly)
c.1245C>G
c.5305C>G
c.2300C>G (p.Ala767Gly)
c.8234C>G (p.Ala2745Gly)
c.896-29582C>G
c.3030+35C>G (n.3030+35C>G)
c.8108C>G (p.Ala2703Gly)
n.2037C>G
c.8237C>G (p.Ala2746Gly)
2g.73490193C>TCA347267945ALMS1c.7853C>T (p.Ala2618Val)
c.1245C>T
c.5305C>T
c.2300C>T (p.Ala767Val)
c.8234C>T (p.Ala2745Val)
c.896-29582C>T
c.3030+35C>T (n.3030+35C>T)
c.8108C>T (p.Ala2703Val)
n.2037C>T
c.8237C>T (p.Ala2746Val)
 gnomAD v4
2g.73490194A=CA1260981654ALMS1c.7854A= (p.Ala2618=)
c.1246A=
c.5306A=
c.2301A= (p.Ala767=)
c.8235A= (p.Ala2745=)
c.896-29581A=
c.3030+36A= (n.3030+36A=)
c.8109A= (p.Ala2703=)
n.2038A=
c.8238A= (p.Ala2746=)
2g.73490194A>CCA427001225ALMS1c.7854A>C (p.Ala2618=)
c.1246A>C
c.5306A>C
c.2301A>C (p.Ala767=)
c.8235A>C (p.Ala2745=)
c.896-29581A>C
c.3030+36A>C (n.3030+36A>C)
c.8109A>C (p.Ala2703=)
n.2038A>C
c.8238A>C (p.Ala2746=)
2g.73490194A>GCA1714429ALMS1c.7854A>G (p.Ala2618=)
c.1246A>G
c.5306A>G
c.2301A>G (p.Ala767=)
c.8235A>G (p.Ala2745=)
c.896-29581A>G
c.3030+36A>G (n.3030+36A>G)
c.8109A>G (p.Ala2703=)
n.2038A>G
c.8238A>G (p.Ala2746=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490194A>TCA427001226ALMS1c.7854A>T (p.Ala2618=)
c.1246A>T
c.5306A>T
c.2301A>T (p.Ala767=)
c.8235A>T (p.Ala2745=)
c.896-29581A>T
c.3030+36A>T (n.3030+36A>T)
c.8109A>T (p.Ala2703=)
n.2038A>T
c.8238A>T (p.Ala2746=)
2g.73490195T>ACA347267947ALMS1c.7855T>A (p.Ser2619Thr)
c.1247T>A
c.5307T>A
c.2302T>A (p.Ser768Thr)
c.8236T>A (p.Ser2746Thr)
c.896-29580T>A
c.3030+37T>A (n.3030+37T>A)
c.8110T>A (p.Ser2704Thr)
n.2039T>A
c.8239T>A (p.Ser2747Thr)
2g.73490195T>CCA347267948ALMS1c.7855T>C (p.Ser2619Pro)
c.1247T>C
c.5307T>C
c.2302T>C (p.Ser768Pro)
c.8236T>C (p.Ser2746Pro)
c.896-29580T>C
c.3030+37T>C (n.3030+37T>C)
c.8110T>C (p.Ser2704Pro)
n.2039T>C
c.8239T>C (p.Ser2747Pro)
2g.73490195T>GCA347267949ALMS1c.7855T>G (p.Ser2619Ala)
c.1247T>G
c.5307T>G
c.2302T>G (p.Ser768Ala)
c.8236T>G (p.Ser2746Ala)
c.896-29580T>G
c.3030+37T>G (n.3030+37T>G)
c.8110T>G (p.Ser2704Ala)
n.2039T>G
c.8239T>G (p.Ser2747Ala)
2g.73490196C>ACA347267951ALMS1c.7856C>A (p.Ser2619Tyr)
c.1248C>A
c.5308C>A
c.2303C>A (p.Ser768Tyr)
c.8237C>A (p.Ser2746Tyr)
c.896-29579C>A
c.3030+38C>A (n.3030+38C>A)
c.8111C>A (p.Ser2704Tyr)
n.2040C>A
c.8240C>A (p.Ser2747Tyr)
2g.73490196C>GCA347267952ALMS1c.7856C>G (p.Ser2619Cys)
c.1248C>G
c.5308C>G
c.2303C>G (p.Ser768Cys)
c.8237C>G (p.Ser2746Cys)
c.896-29579C>G
c.3030+38C>G (n.3030+38C>G)
c.8111C>G (p.Ser2704Cys)
n.2040C>G
c.8240C>G (p.Ser2747Cys)
2g.73490196C>TCA347267954ALMS1c.7856C>T (p.Ser2619Phe)
c.1248C>T
c.5308C>T
c.2303C>T (p.Ser768Phe)
c.8237C>T (p.Ser2746Phe)
c.896-29579C>T
c.3030+38C>T (n.3030+38C>T)
c.8111C>T (p.Ser2704Phe)
n.2040C>T
c.8240C>T (p.Ser2747Phe)
2g.73490197T>ACA427001235ALMS1c.7857T>A (p.Ser2619=)
c.1249T>A
c.5309T>A
c.2304T>A (p.Ser768=)
c.8238T>A (p.Ser2746=)
c.896-29578T>A
c.3030+39T>A (n.3030+39T>A)
c.8112T>A (p.Ser2704=)
n.2041T>A
c.8241T>A (p.Ser2747=)
2g.73490197T>CCA427001236ALMS1c.7857T>C (p.Ser2619=)
c.1249T>C
c.5309T>C
c.2304T>C (p.Ser768=)
c.8238T>C (p.Ser2746=)
c.896-29578T>C
c.3030+39T>C (n.3030+39T>C)
c.8112T>C (p.Ser2704=)
n.2041T>C
c.8241T>C (p.Ser2747=)
2g.73490197T>GCA427001238ALMS1c.7857T>G (p.Ser2619=)
c.1249T>G
c.5309T>G
c.2304T>G (p.Ser768=)
c.8238T>G (p.Ser2746=)
c.896-29578T>G
c.3030+39T>G (n.3030+39T>G)
c.8112T>G (p.Ser2704=)
n.2041T>G
c.8241T>G (p.Ser2747=)
2g.73490198G>ACA347267955ALMS1c.7858G>A (p.Val2620Met)
c.1250G>A
c.5310G>A
c.2305G>A (p.Val769Met)
c.8239G>A (p.Val2747Met)
c.896-29577G>A
c.3030+40G>A (n.3030+40G>A)
c.8113G>A (p.Val2705Met)
n.2042G>A
c.8242G>A (p.Val2748Met)
2g.73490198G>CCA347267956ALMS1c.7858G>C (p.Val2620Leu)
c.1250G>C
c.5310G>C
c.2305G>C (p.Val769Leu)
c.8239G>C (p.Val2747Leu)
c.896-29577G>C
c.3030+40G>C (n.3030+40G>C)
c.8113G>C (p.Val2705Leu)
n.2042G>C
c.8242G>C (p.Val2748Leu)
 dbSNP
2g.73490198G=CA1260981659ALMS1c.7858G= (p.Val2620=)
c.1250G=
c.5310G=
c.2305G= (p.Val769=)
c.8239G= (p.Val2747=)
c.896-29577G=
c.3030+40G= (n.3030+40G=)
c.8113G= (p.Val2705=)
n.2042G=
c.8242G= (p.Val2748=)
2g.73490198G>TCA10582103ALMS1c.7858G>T (p.Val2620Leu)
c.1250G>T
c.5310G>T
c.2305G>T (p.Val769Leu)
c.8239G>T (p.Val2747Leu)
c.896-29577G>T
c.3030+40G>T (n.3030+40G>T)
c.8113G>T (p.Val2705Leu)
n.2042G>T
c.8242G>T (p.Val2748Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73490199T>ACA347267960ALMS1c.7859T>A (p.Val2620Glu)
c.1251T>A
c.5311T>A
c.2306T>A (p.Val769Glu)
c.8240T>A (p.Val2747Glu)
c.896-29576T>A
c.3030+41T>A (n.3030+41T>A)
c.8114T>A (p.Val2705Glu)
n.2043T>A
c.8243T>A (p.Val2748Glu)
2g.73490199T>CCA347267959ALMS1c.7859T>C (p.Val2620Ala)
c.1251T>C
c.5311T>C
c.2306T>C (p.Val769Ala)
c.8240T>C (p.Val2747Ala)
c.896-29576T>C
c.3030+41T>C (n.3030+41T>C)
c.8114T>C (p.Val2705Ala)
n.2043T>C
c.8243T>C (p.Val2748Ala)
2g.73490199T>GCA1714430ALMS1c.7859T>G (p.Val2620Gly)
c.1251T>G
c.5311T>G
c.2306T>G (p.Val769Gly)
c.8240T>G (p.Val2747Gly)
c.896-29576T>G
c.3030+41T>G (n.3030+41T>G)
c.8114T>G (p.Val2705Gly)
n.2043T>G
c.8243T>G (p.Val2748Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490199T=CA1260981669ALMS1c.7859T= (p.Val2620=)
c.1251T=
c.5311T=
c.2306T= (p.Val769=)
c.8240T= (p.Val2747=)
c.896-29576T=
c.3030+41T= (n.3030+41T=)
c.8114T= (p.Val2705=)
n.2043T=
c.8243T= (p.Val2748=)
2g.73490199_73490200insACA2659619851ALMS1c.7859_7860insA (p.Val2622GlyfsTer3)
c.1251_1252insA
c.5311_5312insA
c.2306_2307insA (p.Val771GlyfsTer3)
c.8240_8241insA (p.Val2749GlyfsTer3)
c.896-29576_896-29575insA
c.3030+41_3030+42insA (n.3030+41_3030+42insA)
c.8114_8115insA (p.Val2707GlyfsTer3)
n.2043_2044insA
c.8243_8244insA (p.Val2750GlyfsTer3)
 gnomAD v4
2g.73490200G>ACA427001248ALMS1c.7860G>A (p.Val2620=)
c.1252G>A
c.5312G>A
c.2307G>A (p.Val769=)
c.8241G>A (p.Val2747=)
c.896-29575G>A
c.3030+42G>A (n.3030+42G>A)
c.8115G>A (p.Val2705=)
n.2044G>A
c.8244G>A (p.Val2748=)
 ClinVar
2g.73490200G>CCA427001250ALMS1c.7860G>C (p.Val2620=)
c.1252G>C
c.5312G>C
c.2307G>C (p.Val769=)
c.8241G>C (p.Val2747=)
c.896-29575G>C
c.3030+42G>C (n.3030+42G>C)
c.8115G>C (p.Val2705=)
n.2044G>C
c.8244G>C (p.Val2748=)
2g.73490200G>TCA427001252ALMS1c.7860G>T (p.Val2620=)
c.1252G>T
c.5312G>T
c.2307G>T (p.Val769=)
c.8241G>T (p.Val2747=)
c.896-29575G>T
c.3030+42G>T (n.3030+42G>T)
c.8115G>T (p.Val2705=)
n.2044G>T
c.8244G>T (p.Val2748=)
2g.73490204dupCA1714431ALMS1c.7864dup (p.Val2622GlyfsTer3)
c.1256dup
c.5316dup
c.2311dup (p.Val771GlyfsTer3)
c.8245dup (p.Val2749GlyfsTer3)
c.896-29571dup
c.3030+46dup (n.3030+46dup)
c.8119dup (p.Val2707GlyfsTer3)
n.2048dup
c.8248dup (p.Val2750GlyfsTer3)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490201G>ACA347267962ALMS1c.7861G>A (p.Gly2621Arg)
c.1253G>A
c.5313G>A
c.2308G>A (p.Gly770Arg)
c.8242G>A (p.Gly2748Arg)
c.896-29574G>A
c.3030+43G>A (n.3030+43G>A)
c.8116G>A (p.Gly2706Arg)
n.2045G>A
c.8245G>A (p.Gly2749Arg)
 gnomAD v4
2g.73490201G>CCA347267963ALMS1c.7861G>C (p.Gly2621Arg)
c.1253G>C
c.5313G>C
c.2308G>C (p.Gly770Arg)
c.8242G>C (p.Gly2748Arg)
c.896-29574G>C
c.3030+43G>C (n.3030+43G>C)
c.8116G>C (p.Gly2706Arg)
n.2045G>C
c.8245G>C (p.Gly2749Arg)
 ClinVar dbSNP
2g.73490201G=CA1260981677ALMS1c.7861G= (p.Gly2621=)
c.1253G=
c.5313G=
c.2308G= (p.Gly770=)
c.8242G= (p.Gly2748=)
c.896-29574G=
c.3030+43G= (n.3030+43G=)
c.8116G= (p.Gly2706=)
n.2045G=
c.8245G= (p.Gly2749=)
2g.73490201G>TCA347267965ALMS1c.7861G>T (p.Gly2621Trp)
c.1253G>T
c.5313G>T
c.2308G>T (p.Gly770Trp)
c.8242G>T (p.Gly2748Trp)
c.896-29574G>T
c.3030+43G>T (n.3030+43G>T)
c.8116G>T (p.Gly2706Trp)
n.2045G>T
c.8245G>T (p.Gly2749Trp)
 gnomAD v4
2g.73490202G>ACA347267967ALMS1c.7862G>A (p.Gly2621Glu)
c.1254G>A
c.5314G>A
c.2309G>A (p.Gly770Glu)
c.8243G>A (p.Gly2748Glu)
c.896-29573G>A
c.3030+44G>A (n.3030+44G>A)
c.8117G>A (p.Gly2706Glu)
n.2046G>A
c.8246G>A (p.Gly2749Glu)
2g.73490202G>CCA347267968ALMS1c.7862G>C (p.Gly2621Ala)
c.1254G>C
c.5314G>C
c.2309G>C (p.Gly770Ala)
c.8243G>C (p.Gly2748Ala)
c.896-29573G>C
c.3030+44G>C (n.3030+44G>C)
c.8117G>C (p.Gly2706Ala)
n.2046G>C
c.8246G>C (p.Gly2749Ala)
2g.73490202G>TCA347267969ALMS1c.7862G>T (p.Gly2621Val)
c.1254G>T
c.5314G>T
c.2309G>T (p.Gly770Val)
c.8243G>T (p.Gly2748Val)
c.896-29573G>T
c.3030+44G>T (n.3030+44G>T)
c.8117G>T (p.Gly2706Val)
n.2046G>T
c.8246G>T (p.Gly2749Val)
2g.73490203G>ACA427001258ALMS1c.7863G>A (p.Gly2621=)
c.1255G>A
c.5315G>A
c.2310G>A (p.Gly770=)
c.8244G>A (p.Gly2748=)
c.896-29572G>A
c.3030+45G>A (n.3030+45G>A)
c.8118G>A (p.Gly2706=)
n.2047G>A
c.8247G>A (p.Gly2749=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73490203G>CCA427001260ALMS1c.7863G>C (p.Gly2621=)
c.1255G>C
c.5315G>C
c.2310G>C (p.Gly770=)
c.8244G>C (p.Gly2748=)
c.896-29572G>C
c.3030+45G>C (n.3030+45G>C)
c.8118G>C (p.Gly2706=)
n.2047G>C
c.8247G>C (p.Gly2749=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73490203G=CA1260981681ALMS1c.7863G= (p.Gly2621=)
c.1255G=
c.5315G=
c.2310G= (p.Gly770=)
c.8244G= (p.Gly2748=)
c.896-29572G=
c.3030+45G= (n.3030+45G=)
c.8118G= (p.Gly2706=)
n.2047G=
c.8247G= (p.Gly2749=)
2g.73490203G>TCA427001262ALMS1c.7863G>T (p.Gly2621=)
c.1255G>T
c.5315G>T
c.2310G>T (p.Gly770=)
c.8244G>T (p.Gly2748=)
c.896-29572G>T
c.3030+45G>T (n.3030+45G>T)
c.8118G>T (p.Gly2706=)
n.2047G>T
c.8247G>T (p.Gly2749=)
 gnomAD v4
2g.73490204G>ACA50378333ALMS1c.7864G>A (p.Val2622Ile)
c.1256G>A
c.5316G>A
c.2311G>A (p.Val771Ile)
c.8245G>A (p.Val2749Ile)
c.896-29571G>A
c.3030+46G>A (n.3030+46G>A)
c.8119G>A (p.Val2707Ile)
n.2048G>A
c.8248G>A (p.Val2750Ile)
 ClinVar dbSNP gnomAD v4
2g.73490204G>CCA347267970ALMS1c.7864G>C (p.Val2622Leu)
c.1256G>C
c.5316G>C
c.2311G>C (p.Val771Leu)
c.8245G>C (p.Val2749Leu)
c.896-29571G>C
c.3030+46G>C (n.3030+46G>C)
c.8119G>C (p.Val2707Leu)
n.2048G>C
c.8248G>C (p.Val2750Leu)
2g.73490204G=CA1260981684ALMS1c.7864G= (p.Val2622=)
c.1256G=
c.5316G=
c.2311G= (p.Val771=)
c.8245G= (p.Val2749=)
c.896-29571G=
c.3030+46G= (n.3030+46G=)
c.8119G= (p.Val2707=)
n.2048G=
c.8248G= (p.Val2750=)
2g.73490204G>TCA347267971ALMS1c.7864G>T (p.Val2622Leu)
c.1256G>T
c.5316G>T
c.2311G>T (p.Val771Leu)
c.8245G>T (p.Val2749Leu)
c.896-29571G>T
c.3030+46G>T (n.3030+46G>T)
c.8119G>T (p.Val2707Leu)
n.2048G>T
c.8248G>T (p.Val2750Leu)
 gnomAD v4
2g.73490205T>ACA347267973ALMS1c.7865T>A (p.Val2622Glu)
c.1257T>A
c.5317T>A
c.2312T>A (p.Val771Glu)
c.8246T>A (p.Val2749Glu)
c.896-29570T>A
c.3030+47T>A (n.3030+47T>A)
c.8120T>A (p.Val2707Glu)
n.2049T>A
c.8249T>A (p.Val2750Glu)
2g.73490205T>CCA347267974ALMS1c.7865T>C (p.Val2622Ala)
c.1257T>C
c.5317T>C
c.2312T>C (p.Val771Ala)
c.8246T>C (p.Val2749Ala)
c.896-29570T>C
c.3030+47T>C (n.3030+47T>C)
c.8120T>C (p.Val2707Ala)
n.2049T>C
c.8249T>C (p.Val2750Ala)
 ClinVar dbSNP gnomAD v4
2g.73490205T>GCA347267975ALMS1c.7865T>G (p.Val2622Gly)
c.1257T>G
c.5317T>G
c.2312T>G (p.Val771Gly)
c.8246T>G (p.Val2749Gly)
c.896-29570T>G
c.3030+47T>G (n.3030+47T>G)
c.8120T>G (p.Val2707Gly)
n.2049T>G
c.8249T>G (p.Val2750Gly)
2g.73490206A>CCA427001281ALMS1c.7866A>C (p.Val2622=)
c.1258A>C
c.5318A>C
c.2313A>C (p.Val771=)
c.8247A>C (p.Val2749=)
c.896-29569A>C
c.3030+48A>C (n.3030+48A>C)
c.8121A>C (p.Val2707=)
n.2050A>C
c.8250A>C (p.Val2750=)
2g.73490206A>GCA427001283ALMS1c.7866A>G (p.Val2622=)
c.1258A>G
c.5318A>G
c.2313A>G (p.Val771=)
c.8247A>G (p.Val2749=)
c.896-29569A>G
c.3030+48A>G (n.3030+48A>G)
c.8121A>G (p.Val2707=)
n.2050A>G
c.8250A>G (p.Val2750=)
2g.73490206A>TCA427001285ALMS1c.7866A>T (p.Val2622=)
c.1258A>T
c.5318A>T
c.2313A>T (p.Val771=)
c.8247A>T (p.Val2749=)
c.896-29569A>T
c.3030+48A>T (n.3030+48A>T)
c.8121A>T (p.Val2707=)
n.2050A>T
c.8250A>T (p.Val2750=)
2g.73490209_73490213delCA2573135761ALMS1c.7869_7873del (p.Asn2624SerfsTer4)
c.1261_1265del
c.5321_5325del
c.2316_2320del (p.Asn773SerfsTer4)
c.8250_8254del (p.Asn2751SerfsTer4)
c.896-29566_896-29562del
c.3030+51_3030+55del (n.3030+51_3030+55del)
c.8124_8128del (p.Asn2709SerfsTer4)
n.2053_2057del
c.8253_8257del (p.Asn2752SerfsTer4)
 ClinVar dbSNP
2g.73490207T>ACA347267979ALMS1c.7867T>A (p.Phe2623Ile)
c.1259T>A
c.5319T>A
c.2314T>A (p.Phe772Ile)
c.8248T>A (p.Phe2750Ile)
c.896-29568T>A
c.3030+49T>A (n.3030+49T>A)
c.8122T>A (p.Phe2708Ile)
n.2051T>A
c.8251T>A (p.Phe2751Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.73490207T>CCA347267980ALMS1c.7867T>C (p.Phe2623Leu)
c.1259T>C
c.5319T>C
c.2314T>C (p.Phe772Leu)
c.8248T>C (p.Phe2750Leu)
c.896-29568T>C
c.3030+49T>C (n.3030+49T>C)
c.8122T>C (p.Phe2708Leu)
n.2051T>C
c.8251T>C (p.Phe2751Leu)
2g.73490207T>GCA347267978ALMS1c.7867T>G (p.Phe2623Val)
c.1259T>G
c.5319T>G
c.2314T>G (p.Phe772Val)
c.8248T>G (p.Phe2750Val)
c.896-29568T>G
c.3030+49T>G (n.3030+49T>G)
c.8122T>G (p.Phe2708Val)
n.2051T>G
c.8251T>G (p.Phe2751Val)
2g.73490207T=CA1260981687ALMS1c.7867T= (p.Phe2623=)
c.1259T=
c.5319T=
c.2314T= (p.Phe772=)
c.8248T= (p.Phe2750=)
c.896-29568T=
c.3030+49T= (n.3030+49T=)
c.8122T= (p.Phe2708=)
n.2051T=
c.8251T= (p.Phe2751=)
2g.73490208T>ACA347267982ALMS1c.7868T>A (p.Phe2623Tyr)
c.1260T>A
c.5320T>A
c.2315T>A (p.Phe772Tyr)
c.8249T>A (p.Phe2750Tyr)
c.896-29567T>A
c.3030+50T>A (n.3030+50T>A)
c.8123T>A (p.Phe2708Tyr)
n.2052T>A
c.8252T>A (p.Phe2751Tyr)
2g.73490208T>CCA347267985ALMS1c.7868T>C (p.Phe2623Ser)
c.1260T>C
c.5320T>C
c.2315T>C (p.Phe772Ser)
c.8249T>C (p.Phe2750Ser)
c.896-29567T>C
c.3030+50T>C (n.3030+50T>C)
c.8123T>C (p.Phe2708Ser)
n.2052T>C
c.8252T>C (p.Phe2751Ser)
2g.73490208T>GCA347267984ALMS1c.7868T>G (p.Phe2623Cys)
c.1260T>G
c.5320T>G
c.2315T>G (p.Phe772Cys)
c.8249T>G (p.Phe2750Cys)
c.896-29567T>G
c.3030+50T>G (n.3030+50T>G)
c.8123T>G (p.Phe2708Cys)
n.2052T>G
c.8252T>G (p.Phe2751Cys)
2g.73490209T>ACA347267987ALMS1c.7869T>A (p.Phe2623Leu)
c.1261T>A
c.5321T>A
c.2316T>A (p.Phe772Leu)
c.8250T>A (p.Phe2750Leu)
c.896-29566T>A
c.3030+51T>A (n.3030+51T>A)
c.8124T>A (p.Phe2708Leu)
n.2053T>A
c.8253T>A (p.Phe2751Leu)
2g.73490209T>CCA427001292ALMS1c.7869T>C (p.Phe2623=)
c.1261T>C
c.5321T>C
c.2316T>C (p.Phe772=)
c.8250T>C (p.Phe2750=)
c.896-29566T>C
c.3030+51T>C (n.3030+51T>C)
c.8124T>C (p.Phe2708=)
n.2053T>C
c.8253T>C (p.Phe2751=)
 ClinVar gnomAD v4
2g.73490209T>GCA347267988ALMS1c.7869T>G (p.Phe2623Leu)
c.1261T>G
c.5321T>G
c.2316T>G (p.Phe772Leu)
c.8250T>G (p.Phe2750Leu)
c.896-29566T>G
c.3030+51T>G (n.3030+51T>G)
c.8124T>G (p.Phe2708Leu)
n.2053T>G
c.8253T>G (p.Phe2751Leu)
2g.73490210A=CA1260981692ALMS1c.7870A= (p.Asn2624=)
c.1262A=
c.5322A=
c.2317A= (p.Asn773=)
c.8251A= (p.Asn2751=)
c.896-29565A=
c.3030+52A= (n.3030+52A=)
c.8125A= (p.Asn2709=)
n.2054A=
c.8254A= (p.Asn2752=)
2g.73490210A>CCA347267990ALMS1c.7870A>C (p.Asn2624His)
c.1262A>C
c.5322A>C
c.2317A>C (p.Asn773His)
c.8251A>C (p.Asn2751His)
c.896-29565A>C
c.3030+52A>C (n.3030+52A>C)
c.8125A>C (p.Asn2709His)
n.2054A>C
c.8254A>C (p.Asn2752His)
2g.73490210A>GCA347267992ALMS1c.7870A>G (p.Asn2624Asp)
c.1262A>G
c.5322A>G
c.2317A>G (p.Asn773Asp)
c.8251A>G (p.Asn2751Asp)
c.896-29565A>G
c.3030+52A>G (n.3030+52A>G)
c.8125A>G (p.Asn2709Asp)
n.2054A>G
c.8254A>G (p.Asn2752Asp)
2g.73490210A>TCA347267993ALMS1c.7870A>T (p.Asn2624Tyr)
c.1262A>T
c.5322A>T
c.2317A>T (p.Asn773Tyr)
c.8251A>T (p.Asn2751Tyr)
c.896-29565A>T
c.3030+52A>T (n.3030+52A>T)
c.8125A>T (p.Asn2709Tyr)
n.2054A>T
c.8254A>T (p.Asn2752Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73490211A=CA1260981696ALMS1c.7871A= (p.Asn2624=)
c.1263A=
c.5323A=
c.2318A= (p.Asn773=)
c.8252A= (p.Asn2751=)
c.896-29564A=
c.3030+53A= (n.3030+53A=)
c.8126A= (p.Asn2709=)
n.2055A=
c.8255A= (p.Asn2752=)
2g.73490211A>CCA347267995ALMS1c.7871A>C (p.Asn2624Thr)
c.1263A>C
c.5323A>C
c.2318A>C (p.Asn773Thr)
c.8252A>C (p.Asn2751Thr)
c.896-29564A>C
c.3030+53A>C (n.3030+53A>C)
c.8126A>C (p.Asn2709Thr)
n.2055A>C
c.8255A>C (p.Asn2752Thr)
2g.73490211A>GCA347267997ALMS1c.7871A>G (p.Asn2624Ser)
c.1263A>G
c.5323A>G
c.2318A>G (p.Asn773Ser)
c.8252A>G (p.Asn2751Ser)
c.896-29564A>G
c.3030+53A>G (n.3030+53A>G)
c.8126A>G (p.Asn2709Ser)
n.2055A>G
c.8255A>G (p.Asn2752Ser)
 ClinVar dbSNP gnomAD v4
2g.73490211A>TCA347267998ALMS1c.7871A>T (p.Asn2624Ile)
c.1263A>T
c.5323A>T
c.2318A>T (p.Asn773Ile)
c.8252A>T (p.Asn2751Ile)
c.896-29564A>T
c.3030+53A>T (n.3030+53A>T)
c.8126A>T (p.Asn2709Ile)
n.2055A>T
c.8255A>T (p.Asn2752Ile)
2g.73490212T>ACA347268000ALMS1c.7872T>A (p.Asn2624Lys)
c.1264T>A
c.5324T>A
c.2319T>A (p.Asn773Lys)
c.8253T>A (p.Asn2751Lys)
c.896-29563T>A
c.3030+54T>A (n.3030+54T>A)
c.8127T>A (p.Asn2709Lys)
n.2056T>A
c.8256T>A (p.Asn2752Lys)
2g.73490212T>CCA427001301ALMS1c.7872T>C (p.Asn2624=)
c.1264T>C
c.5324T>C
c.2319T>C (p.Asn773=)
c.8253T>C (p.Asn2751=)
c.896-29563T>C
c.3030+54T>C (n.3030+54T>C)
c.8127T>C (p.Asn2709=)
n.2056T>C
c.8256T>C (p.Asn2752=)
2g.73490212T>GCA347268002ALMS1c.7872T>G (p.Asn2624Lys)
c.1264T>G
c.5324T>G
c.2319T>G (p.Asn773Lys)
c.8253T>G (p.Asn2751Lys)
c.896-29563T>G
c.3030+54T>G (n.3030+54T>G)
c.8127T>G (p.Asn2709Lys)
n.2056T>G
c.8256T>G (p.Asn2752Lys)
2g.73490213T>ACA347268006ALMS1c.7873T>A (p.Ser2625Thr)
c.1265T>A
c.5325T>A
c.2320T>A (p.Ser774Thr)
c.8254T>A (p.Ser2752Thr)
c.896-29562T>A
c.3030+55T>A (n.3030+55T>A)
c.8128T>A (p.Ser2710Thr)
n.2057T>A
c.8257T>A (p.Ser2753Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73490213T>CCA347268005ALMS1c.7873T>C (p.Ser2625Pro)
c.1265T>C
c.5325T>C
c.2320T>C (p.Ser774Pro)
c.8254T>C (p.Ser2752Pro)
c.896-29562T>C
c.3030+55T>C (n.3030+55T>C)
c.8128T>C (p.Ser2710Pro)
n.2057T>C
c.8257T>C (p.Ser2753Pro)
2g.73490213T>GCA347268004ALMS1c.7873T>G (p.Ser2625Ala)
c.1265T>G
c.5325T>G
c.2320T>G (p.Ser774Ala)
c.8254T>G (p.Ser2752Ala)
c.896-29562T>G
c.3030+55T>G (n.3030+55T>G)
c.8128T>G (p.Ser2710Ala)
n.2057T>G
c.8257T>G (p.Ser2753Ala)
2g.73490213T=CA1260981698ALMS1c.7873T= (p.Ser2625=)
c.1265T=
c.5325T=
c.2320T= (p.Ser774=)
c.8254T= (p.Ser2752=)
c.896-29562T=
c.3030+55T= (n.3030+55T=)
c.8128T= (p.Ser2710=)
n.2057T=
c.8257T= (p.Ser2753=)
2g.73490214C>ACA347268008ALMS1c.7874C>A (p.Ser2625Tyr)
c.1266C>A
c.5326C>A
c.2321C>A (p.Ser774Tyr)
c.8255C>A (p.Ser2752Tyr)
c.896-29561C>A
c.3030+56C>A (n.3030+56C>A)
c.8129C>A (p.Ser2710Tyr)
n.2058C>A
c.8258C>A (p.Ser2753Tyr)
2g.73490214C>GCA347268010ALMS1c.7874C>G (p.Ser2625Cys)
c.1266C>G
c.5326C>G
c.2321C>G (p.Ser774Cys)
c.8255C>G (p.Ser2752Cys)
c.896-29561C>G
c.3030+56C>G (n.3030+56C>G)
c.8129C>G (p.Ser2710Cys)
n.2058C>G
c.8258C>G (p.Ser2753Cys)
2g.73490214C>TCA347268012ALMS1c.7874C>T (p.Ser2625Phe)
c.1266C>T
c.5326C>T
c.2321C>T (p.Ser774Phe)
c.8255C>T (p.Ser2752Phe)
c.896-29561C>T
c.3030+56C>T (n.3030+56C>T)
c.8129C>T (p.Ser2710Phe)
n.2058C>T
c.8258C>T (p.Ser2753Phe)
2g.73490215T>ACA427001312ALMS1c.7875T>A (p.Ser2625=)
c.1267T>A
c.5327T>A
c.2322T>A (p.Ser774=)
c.8256T>A (p.Ser2752=)
c.896-29560T>A
c.3030+57T>A (n.3030+57T>A)
c.8130T>A (p.Ser2710=)
n.2059T>A
c.8259T>A (p.Ser2753=)
2g.73490215T>CCA427001310ALMS1c.7875T>C (p.Ser2625=)
c.1267T>C
c.5327T>C
c.2322T>C (p.Ser774=)
c.8256T>C (p.Ser2752=)
c.896-29560T>C
c.3030+57T>C (n.3030+57T>C)
c.8130T>C (p.Ser2710=)
n.2059T>C
c.8259T>C (p.Ser2753=)
2g.73490215T>GCA427001308ALMS1c.7875T>G (p.Ser2625=)
c.1267T>G
c.5327T>G
c.2322T>G (p.Ser774=)
c.8256T>G (p.Ser2752=)
c.896-29560T>G
c.3030+57T>G (n.3030+57T>G)
c.8130T>G (p.Ser2710=)
n.2059T>G
c.8259T>G (p.Ser2753=)
 ClinVar dbSNP
2g.73490216C>ACA1714432ALMS1c.7876C>A (p.His2626Asn)
c.1268C>A
c.5328C>A
c.2323C>A (p.His775Asn)
c.8257C>A (p.His2753Asn)
c.896-29559C>A
c.3030+58C>A (n.3030+58C>A)
c.8131C>A (p.His2711Asn)
n.2060C>A
c.8260C>A (p.His2754Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490216C=CA1260981703ALMS1c.7876C= (p.His2626=)
c.1268C=
c.5328C=
c.2323C= (p.His775=)
c.8257C= (p.His2753=)
c.896-29559C=
c.3030+58C= (n.3030+58C=)
c.8131C= (p.His2711=)
n.2060C=
c.8260C= (p.His2754=)
2g.73490216C>GCA347268014ALMS1c.7876C>G (p.His2626Asp)
c.1268C>G
c.5328C>G
c.2323C>G (p.His775Asp)
c.8257C>G (p.His2753Asp)
c.896-29559C>G
c.3030+58C>G (n.3030+58C>G)
c.8131C>G (p.His2711Asp)
n.2060C>G
c.8260C>G (p.His2754Asp)
2g.73490216C>TCA1714433ALMS1c.7876C>T (p.His2626Tyr)
c.1268C>T
c.5328C>T
c.2323C>T (p.His775Tyr)
c.8257C>T (p.His2753Tyr)
c.896-29559C>T
c.3030+58C>T (n.3030+58C>T)
c.8131C>T (p.His2711Tyr)
n.2060C>T
c.8260C>T (p.His2754Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490217A=CA1260981706ALMS1c.7877A= (p.His2626=)
c.1269A=
c.5329A=
c.2324A= (p.His775=)
c.8258A= (p.His2753=)
c.896-29558A=
c.3030+59A= (n.3030+59A=)
c.8132A= (p.His2711=)
n.2061A=
c.8261A= (p.His2754=)
2g.73490217A>CCA347268016ALMS1c.7877A>C (p.His2626Pro)
c.1269A>C
c.5329A>C
c.2324A>C (p.His775Pro)
c.8258A>C (p.His2753Pro)
c.896-29558A>C
c.3030+59A>C (n.3030+59A>C)
c.8132A>C (p.His2711Pro)
n.2061A>C
c.8261A>C (p.His2754Pro)
 gnomAD v4
2g.73490217A>GCA347268018ALMS1c.7877A>G (p.His2626Arg)
c.1269A>G
c.5329A>G
c.2324A>G (p.His775Arg)
c.8258A>G (p.His2753Arg)
c.896-29558A>G
c.3030+59A>G (n.3030+59A>G)
c.8132A>G (p.His2711Arg)
n.2061A>G
c.8261A>G (p.His2754Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73490217A>TCA347268019ALMS1c.7877A>T (p.His2626Leu)
c.1269A>T
c.5329A>T
c.2324A>T (p.His775Leu)
c.8258A>T (p.His2753Leu)
c.896-29558A>T
c.3030+59A>T (n.3030+59A>T)
c.8132A>T (p.His2711Leu)
n.2061A>T
c.8261A>T (p.His2754Leu)
2g.73490218T>ACA347268021ALMS1c.7878T>A (p.His2626Gln)
c.1270T>A
c.5330T>A
c.2325T>A (p.His775Gln)
c.8259T>A (p.His2753Gln)
c.896-29557T>A
c.3030+60T>A (n.3030+60T>A)
c.8133T>A (p.His2711Gln)
n.2062T>A
c.8262T>A (p.His2754Gln)
2g.73490218T>CCA427001318ALMS1c.7878T>C (p.His2626=)
c.1270T>C
c.5330T>C
c.2325T>C (p.His775=)
c.8259T>C (p.His2753=)
c.896-29557T>C
c.3030+60T>C (n.3030+60T>C)
c.8133T>C (p.His2711=)
n.2062T>C
c.8262T>C (p.His2754=)
 ClinVar
2g.73490218T>GCA347268022ALMS1c.7878T>G (p.His2626Gln)
c.1270T>G
c.5330T>G
c.2325T>G (p.His775Gln)
c.8259T>G (p.His2753Gln)
c.896-29557T>G
c.3030+60T>G (n.3030+60T>G)
c.8133T>G (p.His2711Gln)
n.2062T>G
c.8262T>G (p.His2754Gln)
2g.73490219T>ACA347268025ALMS1c.7879T>A (p.Phe2627Ile)
c.1271T>A
c.5331T>A
c.2326T>A (p.Phe776Ile)
c.8260T>A (p.Phe2754Ile)
c.896-29556T>A
c.3030+61T>A (n.3030+61T>A)
c.8134T>A (p.Phe2712Ile)
n.2063T>A
c.8263T>A (p.Phe2755Ile)
 ClinVar
2g.73490219T>CCA347268027ALMS1c.7879T>C (p.Phe2627Leu)
c.1271T>C
c.5331T>C
c.2326T>C (p.Phe776Leu)
c.8260T>C (p.Phe2754Leu)
c.896-29556T>C
c.3030+61T>C (n.3030+61T>C)
c.8134T>C (p.Phe2712Leu)
n.2063T>C
c.8263T>C (p.Phe2755Leu)
2g.73490219T>GCA347268023ALMS1c.7879T>G (p.Phe2627Val)
c.1271T>G
c.5331T>G
c.2326T>G (p.Phe776Val)
c.8260T>G (p.Phe2754Val)
c.896-29556T>G
c.3030+61T>G (n.3030+61T>G)
c.8134T>G (p.Phe2712Val)
n.2063T>G
c.8263T>G (p.Phe2755Val)
2g.73490219_73490226delCA2750465616ALMS1c.7879_7886del (p.Phe2627ArgfsTer9)
c.1271_1278del
c.5331_5338del
c.2326_2333del (p.Phe776ArgfsTer9)
c.8260_8267del (p.Phe2754ArgfsTer9)
c.896-29556_896-29549del
c.3030+61_3030+68del (n.3030+61_3030+68del)
c.8134_8141del (p.Phe2712ArgfsTer9)
n.2063_2070del
c.8263_8270del (p.Phe2755ArgfsTer9)
2g.73490220T>ACA347268029ALMS1c.7880T>A (p.Phe2627Tyr)
c.1272T>A
c.5332T>A
c.2327T>A (p.Phe776Tyr)
c.8261T>A (p.Phe2754Tyr)
c.896-29555T>A
c.3030+62T>A (n.3030+62T>A)
c.8135T>A (p.Phe2712Tyr)
n.2064T>A
c.8264T>A (p.Phe2755Tyr)
 gnomAD v4
2g.73490220T>CCA347268030ALMS1c.7880T>C (p.Phe2627Ser)
c.1272T>C
c.5332T>C
c.2327T>C (p.Phe776Ser)
c.8261T>C (p.Phe2754Ser)
c.896-29555T>C
c.3030+62T>C (n.3030+62T>C)
c.8135T>C (p.Phe2712Ser)
n.2064T>C
c.8264T>C (p.Phe2755Ser)
2g.73490220T>GCA347268031ALMS1c.7880T>G (p.Phe2627Cys)
c.1272T>G
c.5332T>G
c.2327T>G (p.Phe776Cys)
c.8261T>G (p.Phe2754Cys)
c.896-29555T>G
c.3030+62T>G (n.3030+62T>G)
c.8135T>G (p.Phe2712Cys)
n.2064T>G
c.8264T>G (p.Phe2755Cys)
2g.73490221C>ACA347268033ALMS1c.7881C>A (p.Phe2627Leu)
c.1273C>A
c.5333C>A
c.2328C>A (p.Phe776Leu)
c.8262C>A (p.Phe2754Leu)
c.896-29554C>A
c.3030+63C>A (n.3030+63C>A)
c.8136C>A (p.Phe2712Leu)
n.2065C>A
c.8265C>A (p.Phe2755Leu)
2g.73490221C>GCA347268035ALMS1c.7881C>G (p.Phe2627Leu)
c.1273C>G
c.5333C>G
c.2328C>G (p.Phe776Leu)
c.8262C>G (p.Phe2754Leu)
c.896-29554C>G
c.3030+63C>G (n.3030+63C>G)
c.8136C>G (p.Phe2712Leu)
n.2065C>G
c.8265C>G (p.Phe2755Leu)
2g.73490221C>TCA427001325ALMS1c.7881C>T (p.Phe2627=)
c.1273C>T
c.5333C>T
c.2328C>T (p.Phe776=)
c.8262C>T (p.Phe2754=)
c.896-29554C>T
c.3030+63C>T (n.3030+63C>T)
c.8136C>T (p.Phe2712=)
n.2065C>T
c.8265C>T (p.Phe2755=)
2g.73490222A>CCA347268036ALMS1c.7882A>C (p.Thr2628Pro)
c.1274A>C
c.5334A>C
c.2329A>C (p.Thr777Pro)
c.8263A>C (p.Thr2755Pro)
c.896-29553A>C
c.3030+64A>C (n.3030+64A>C)
c.8137A>C (p.Thr2713Pro)
n.2066A>C
c.8266A>C (p.Thr2756Pro)
2g.73490222A>GCA347268038ALMS1c.7882A>G (p.Thr2628Ala)
c.1274A>G
c.5334A>G
c.2329A>G (p.Thr777Ala)
c.8263A>G (p.Thr2755Ala)
c.896-29553A>G
c.3030+64A>G (n.3030+64A>G)
c.8137A>G (p.Thr2713Ala)
n.2066A>G
c.8266A>G (p.Thr2756Ala)
2g.73490222A>TCA347268039ALMS1c.7882A>T (p.Thr2628Ser)
c.1274A>T
c.5334A>T
c.2329A>T (p.Thr777Ser)
c.8263A>T (p.Thr2755Ser)
c.896-29553A>T
c.3030+64A>T (n.3030+64A>T)
c.8137A>T (p.Thr2713Ser)
n.2066A>T
c.8266A>T (p.Thr2756Ser)
2g.73490223C>ACA347268041ALMS1c.7883C>A (p.Thr2628Asn)
c.1275C>A
c.5335C>A
c.2330C>A (p.Thr777Asn)
c.8264C>A (p.Thr2755Asn)
c.896-29552C>A
c.3030+65C>A (n.3030+65C>A)
c.8138C>A (p.Thr2713Asn)
n.2067C>A
c.8267C>A (p.Thr2756Asn)
2g.73490223C=CA1260981710ALMS1c.7883C= (p.Thr2628=)
c.1275C=
c.5335C=
c.2330C= (p.Thr777=)
c.8264C= (p.Thr2755=)
c.896-29552C=
c.3030+65C= (n.3030+65C=)
c.8138C= (p.Thr2713=)
n.2067C=
c.8267C= (p.Thr2756=)
2g.73490223C>GCA347268043ALMS1c.7883C>G (p.Thr2628Ser)
c.1275C>G
c.5335C>G
c.2330C>G (p.Thr777Ser)
c.8264C>G (p.Thr2755Ser)
c.896-29552C>G
c.3030+65C>G (n.3030+65C>G)
c.8138C>G (p.Thr2713Ser)
n.2067C>G
c.8267C>G (p.Thr2756Ser)
2g.73490223C>TCA50378341ALMS1c.7883C>T (p.Thr2628Ile)
c.1275C>T
c.5335C>T
c.2330C>T (p.Thr777Ile)
c.8264C>T (p.Thr2755Ile)
c.896-29552C>T
c.3030+65C>T (n.3030+65C>T)
c.8138C>T (p.Thr2713Ile)
n.2067C>T
c.8267C>T (p.Thr2756Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.73490224T>ACA427001331ALMS1c.7884T>A (p.Thr2628=)
c.1276T>A
c.5336T>A
c.2331T>A (p.Thr777=)
c.8265T>A (p.Thr2755=)
c.896-29551T>A
c.3030+66T>A (n.3030+66T>A)
c.8139T>A (p.Thr2713=)
n.2068T>A
c.8268T>A (p.Thr2756=)
2g.73490224T>CCA427001333ALMS1c.7884T>C (p.Thr2628=)
c.1276T>C
c.5336T>C
c.2331T>C (p.Thr777=)
c.8265T>C (p.Thr2755=)
c.896-29551T>C
c.3030+66T>C (n.3030+66T>C)
c.8139T>C (p.Thr2713=)
n.2068T>C
c.8268T>C (p.Thr2756=)
 gnomAD v4
2g.73490224T>GCA427001334ALMS1c.7884T>G (p.Thr2628=)
c.1276T>G
c.5336T>G
c.2331T>G (p.Thr777=)
c.8265T>G (p.Thr2755=)
c.896-29551T>G
c.3030+66T>G (n.3030+66T>G)
c.8139T>G (p.Thr2713=)
n.2068T>G
c.8268T>G (p.Thr2756=)
2g.73490225G>ACA347268047ALMS1c.7885G>A (p.Glu2629Lys)
c.1277G>A
c.5337G>A
c.2332G>A (p.Glu778Lys)
c.8266G>A (p.Glu2756Lys)
c.896-29550G>A
c.3030+67G>A (n.3030+67G>A)
c.8140G>A (p.Glu2714Lys)
n.2069G>A
c.8269G>A (p.Glu2757Lys)
 ClinVar
2g.73490225G>CCA347268048ALMS1c.7885G>C (p.Glu2629Gln)
c.1277G>C
c.5337G>C
c.2332G>C (p.Glu778Gln)
c.8266G>C (p.Glu2756Gln)
c.896-29550G>C
c.3030+67G>C (n.3030+67G>C)
c.8140G>C (p.Glu2714Gln)
n.2069G>C
c.8269G>C (p.Glu2757Gln)
2g.73490225G>TCA347268045ALMS1c.7885G>T (p.Glu2629Ter)
c.1277G>T
c.5337G>T
c.2332G>T (p.Glu778Ter)
c.8266G>T (p.Glu2756Ter)
c.896-29550G>T
c.3030+67G>T (n.3030+67G>T)
c.8140G>T (p.Glu2714Ter)
n.2069G>T
c.8269G>T (p.Glu2757Ter)
2g.73490226A>CCA347268050ALMS1c.7886A>C (p.Glu2629Ala)
c.1278A>C
c.5338A>C
c.2333A>C (p.Glu778Ala)
c.8267A>C (p.Glu2756Ala)
c.896-29549A>C
c.3030+68A>C (n.3030+68A>C)
c.8141A>C (p.Glu2714Ala)
n.2070A>C
c.8270A>C (p.Glu2757Ala)
2g.73490226A>GCA347268051ALMS1c.7886A>G (p.Glu2629Gly)
c.1278A>G
c.5338A>G
c.2333A>G (p.Glu778Gly)
c.8267A>G (p.Glu2756Gly)
c.896-29549A>G
c.3030+68A>G (n.3030+68A>G)
c.8141A>G (p.Glu2714Gly)
n.2070A>G
c.8270A>G (p.Glu2757Gly)
 ClinVar
2g.73490226A>TCA347268053ALMS1c.7886A>T (p.Glu2629Val)
c.1278A>T
c.5338A>T
c.2333A>T (p.Glu778Val)
c.8267A>T (p.Glu2756Val)
c.896-29549A>T
c.3030+68A>T (n.3030+68A>T)
c.8141A>T (p.Glu2714Val)
n.2070A>T
c.8270A>T (p.Glu2757Val)

Number of alleles fetched