| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.73490120C>A | CA427001008 | ALMS1 | c.7780C>A (p.Arg2594=) c.1172C>A c.5232C>A c.2227C>A (p.Arg743=) c.8161C>A (p.Arg2721=) c.896-29655C>A c.2992C>A (p.Arg998=) c.8035C>A (p.Arg2679=) n.1964C>A c.8164C>A (p.Arg2722=) | |
| 2 | g.73490120C= | CA1260981503 | ALMS1 | c.7780C= (p.Arg2594=) c.1172C= c.5232C= c.2227C= (p.Arg743=) c.8161C= (p.Arg2721=) c.896-29655C= c.2992C= (p.Arg998=) c.8035C= (p.Arg2679=) n.1964C= c.8164C= (p.Arg2722=) | |
| 2 | g.73490120C>G | CA347267708 | ALMS1 | c.7780C>G (p.Arg2594Gly) c.1172C>G c.5232C>G c.2227C>G (p.Arg743Gly) c.8161C>G (p.Arg2721Gly) c.896-29655C>G c.2992C>G (p.Arg998Gly) c.8035C>G (p.Arg2679Gly) n.1964C>G c.8164C>G (p.Arg2722Gly) | |
| 2 | g.73490120C>T | CA252958 | ALMS1 | c.7780C>T (p.Arg2594Ter) c.1172C>T c.5232C>T c.2227C>T (p.Arg743Ter) c.8161C>T (p.Arg2721Ter) c.896-29655C>T c.2992C>T (p.Arg998Ter) c.8035C>T (p.Arg2679Ter) n.1964C>T c.8164C>T (p.Arg2722Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.73490121G>A | CA1714415 | ALMS1 | c.7781G>A (p.Arg2594Gln) c.1173G>A c.5233G>A c.2228G>A (p.Arg743Gln) c.8162G>A (p.Arg2721Gln) c.896-29654G>A c.2993G>A (p.Arg998Gln) c.8036G>A (p.Arg2679Gln) n.1965G>A c.8165G>A (p.Arg2722Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.73490121G>C | CA347267711 | ALMS1 | c.7781G>C (p.Arg2594Pro) c.1173G>C c.5233G>C c.2228G>C (p.Arg743Pro) c.8162G>C (p.Arg2721Pro) c.896-29654G>C c.2993G>C (p.Arg998Pro) c.8036G>C (p.Arg2679Pro) n.1965G>C c.8165G>C (p.Arg2722Pro) | |
| 2 | g.73490121G= | CA1260981511 | ALMS1 | c.7781G= (p.Arg2594=) c.1173G= c.5233G= c.2228G= (p.Arg743=) c.8162G= (p.Arg2721=) c.896-29654G= c.2993G= (p.Arg998=) c.8036G= (p.Arg2679=) n.1965G= c.8165G= (p.Arg2722=) | |
| 2 | g.73490121G>T | CA347267713 | ALMS1 | c.7781G>T (p.Arg2594Leu) c.1173G>T c.5233G>T c.2228G>T (p.Arg743Leu) c.8162G>T (p.Arg2721Leu) c.896-29654G>T c.2993G>T (p.Arg998Leu) c.8036G>T (p.Arg2679Leu) n.1965G>T c.8165G>T (p.Arg2722Leu) | gnomAD v4 |
| 2 | g.73490122A= | CA1260981514 | ALMS1 | c.7782A= (p.Arg2594=) c.1174A= c.5234A= c.2229A= (p.Arg743=) c.8163A= (p.Arg2721=) c.896-29653A= c.2994A= (p.Arg998=) c.8037A= (p.Arg2679=) n.1966A= c.8166A= (p.Arg2722=) | |
| 2 | g.73490122A>C | CA427001012 | ALMS1 | c.7782A>C (p.Arg2594=) c.1174A>C c.5234A>C c.2229A>C (p.Arg743=) c.8163A>C (p.Arg2721=) c.896-29653A>C c.2994A>C (p.Arg998=) c.8037A>C (p.Arg2679=) n.1966A>C c.8166A>C (p.Arg2722=) | |
| 2 | g.73490122A>G | CA1714416 | ALMS1 | c.7782A>G (p.Arg2594=) c.1174A>G c.5234A>G c.2229A>G (p.Arg743=) c.8163A>G (p.Arg2721=) c.896-29653A>G c.2994A>G (p.Arg998=) c.8037A>G (p.Arg2679=) n.1966A>G c.8166A>G (p.Arg2722=) | ClinVar dbSNP ExAC gnomAD v2 |
| 2 | g.73490122A>T | CA427001015 | ALMS1 | c.7782A>T (p.Arg2594=) c.1174A>T c.5234A>T c.2229A>T (p.Arg743=) c.8163A>T (p.Arg2721=) c.896-29653A>T c.2994A>T (p.Arg998=) c.8037A>T (p.Arg2679=) n.1966A>T c.8166A>T (p.Arg2722=) | |
| 2 | g.73490123C>A | CA347267717 | ALMS1 | c.7783C>A (p.His2595Asn) c.1175C>A c.5235C>A c.2230C>A (p.His744Asn) c.8164C>A (p.His2722Asn) c.896-29652C>A c.2995C>A (p.His999Asn) c.8038C>A (p.His2680Asn) n.1967C>A c.8167C>A (p.His2723Asn) | |
| 2 | g.73490123C>G | CA347267718 | ALMS1 | c.7783C>G (p.His2595Asp) c.1175C>G c.5235C>G c.2230C>G (p.His744Asp) c.8164C>G (p.His2722Asp) c.896-29652C>G c.2995C>G (p.His999Asp) c.8038C>G (p.His2680Asp) n.1967C>G c.8167C>G (p.His2723Asp) | |
| 2 | g.73490123C>T | CA347267716 | ALMS1 | c.7783C>T (p.His2595Tyr) c.1175C>T c.5235C>T c.2230C>T (p.His744Tyr) c.8164C>T (p.His2722Tyr) c.896-29652C>T c.2995C>T (p.His999Tyr) c.8038C>T (p.His2680Tyr) n.1967C>T c.8167C>T (p.His2723Tyr) | |
| 2 | g.73490124A>C | CA347267721 | ALMS1 | c.7784A>C (p.His2595Pro) c.1176A>C c.5236A>C c.2231A>C (p.His744Pro) c.8165A>C (p.His2722Pro) c.896-29651A>C c.2996A>C (p.His999Pro) c.8039A>C (p.His2680Pro) n.1968A>C c.8168A>C (p.His2723Pro) | |
| 2 | g.73490124A>G | CA347267724 | ALMS1 | c.7784A>G (p.His2595Arg) c.1176A>G c.5236A>G c.2231A>G (p.His744Arg) c.8165A>G (p.His2722Arg) c.896-29651A>G c.2996A>G (p.His999Arg) c.8039A>G (p.His2680Arg) n.1968A>G c.8168A>G (p.His2723Arg) | gnomAD v4 |
| 2 | g.73490124A>T | CA347267722 | ALMS1 | c.7784A>T (p.His2595Leu) c.1176A>T c.5236A>T c.2231A>T (p.His744Leu) c.8165A>T (p.His2722Leu) c.896-29651A>T c.2996A>T (p.His999Leu) c.8039A>T (p.His2680Leu) n.1968A>T c.8168A>T (p.His2723Leu) | |
| 2 | g.73490125T>A | CA347267725 | ALMS1 | c.7785T>A (p.His2595Gln) c.1177T>A c.5237T>A c.2232T>A (p.His744Gln) c.8166T>A (p.His2722Gln) c.896-29650T>A c.2997T>A (p.His999Gln) c.8040T>A (p.His2680Gln) n.1969T>A c.8169T>A (p.His2723Gln) | |
| 2 | g.73490125T>C | CA427001022 | ALMS1 | c.7785T>C (p.His2595=) c.1177T>C c.5237T>C c.2232T>C (p.His744=) c.8166T>C (p.His2722=) c.896-29650T>C c.2997T>C (p.His999=) c.8040T>C (p.His2680=) n.1969T>C c.8169T>C (p.His2723=) | |
| 2 | g.73490125T>G | CA347267726 | ALMS1 | c.7785T>G (p.His2595Gln) c.1177T>G c.5237T>G c.2232T>G (p.His744Gln) c.8166T>G (p.His2722Gln) c.896-29650T>G c.2997T>G (p.His999Gln) c.8040T>G (p.His2680Gln) n.1969T>G c.8169T>G (p.His2723Gln) | |
| 2 | g.73490126T>A | CA347267728 | ALMS1 | c.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 |
| 2 | g.73490126T>C | CA347267730 | ALMS1 | c.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) | |
| 2 | g.73490126T>G | CA347267731 | ALMS1 | c.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 |
| 2 | g.73490126T= | CA1260981518 | ALMS1 | c.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=) | |
| 2 | g.73490127C>A | CA1714417 | ALMS1 | c.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 |
| 2 | g.73490127C= | CA1260981521 | ALMS1 | c.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=) | |
| 2 | g.73490127C>G | CA347267732 | ALMS1 | c.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 |
| 2 | g.73490127C>T | CA347267733 | ALMS1 | c.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) | |
| 2 | g.73490128T>A | CA427001031 | ALMS1 | c.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=) | |
| 2 | g.73490128T>C | CA427001032 | ALMS1 | c.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=) | |
| 2 | g.73490128T>G | CA427001034 | ALMS1 | c.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=) | |
| 2 | g.73490129A= | CA1260981531 | ALMS1 | c.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=) | |
| 2 | g.73490129A>C | CA347267735 | ALMS1 | c.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) | |
| 2 | g.73490129A>G | CA1714418 | ALMS1 | c.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 |
| 2 | g.73490129A>T | CA347267736 | ALMS1 | c.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 |
| 2 | g.73490130A>C | CA347267737 | ALMS1 | c.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) | |
| 2 | g.73490130A>G | CA347267738 | ALMS1 | c.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) | |
| 2 | g.73490130A>T | CA347267739 | ALMS1 | c.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) | |
| 2 | g.73490133_73490143del | CA2573135760 | ALMS1 | c.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 |
| 2 | g.73490131A= | CA1260981536 | ALMS1 | c.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=) | |
| 2 | g.73490131A>C | CA347267743 | ALMS1 | c.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) | |
| 2 | g.73490131A>G | CA427001043 | ALMS1 | c.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 |
| 2 | g.73490131A>T | CA347267741 | ALMS1 | c.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) | |
| 2 | g.73490132T>A | CA347267744 | ALMS1 | c.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) | |
| 2 | g.73490132T>C | CA347267746 | ALMS1 | c.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) | |
| 2 | g.73490132T>G | CA347267748 | ALMS1 | c.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) | |
| 2 | g.73490133G>A | CA347267750 | ALMS1 | c.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) | |
| 2 | g.73490133G>C | CA347267751 | ALMS1 | c.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) | |
| 2 | g.73490133G>T | CA347267752 | ALMS1 | c.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) |