UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.1048126del | CA2574258706 | AGRN | c.3866del (p.Pro1289ArgfsTer?) c.3551del (p.Pro1184ArgfsTer?) c.3452del (p.Pro1151ArgfsTer?) c.2993del (p.Pro998ArgfsTer?) c.2132del (p.Pro711ArgfsTer?) n.3933del n.3937del | gnomAD v4 |
| 1 | g.1048126C>A | CA337852765 | AGRN | c.3866C>A (p.Pro1289Gln) c.3551C>A (p.Pro1184Gln) c.3452C>A (p.Pro1151Gln) c.2993C>A (p.Pro998Gln) c.2132C>A (p.Pro711Gln) n.3933C>A n.3937C>A | gnomAD v4 |
| 1 | g.1048126C= | CA1141670886 | AGRN | c.3866C= (p.Pro1289=) c.3551C= (p.Pro1184=) c.3452C= (p.Pro1151=) c.2993C= (p.Pro998=) c.2132C= (p.Pro711=) n.3933C= n.3937C= | |
| 1 | g.1048126C>G | CA337852766 | AGRN | c.3866C>G (p.Pro1289Arg) c.3551C>G (p.Pro1184Arg) c.3452C>G (p.Pro1151Arg) c.2993C>G (p.Pro998Arg) c.2132C>G (p.Pro711Arg) n.3933C>G n.3937C>G | gnomAD v4 |
| 1 | g.1048126C>T | CA151645 | AGRN | c.3866C>T (p.Pro1289Leu) c.3551C>T (p.Pro1184Leu) c.3452C>T (p.Pro1151Leu) c.2993C>T (p.Pro998Leu) c.2132C>T (p.Pro711Leu) n.3933C>T n.3937C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048127G>A | CA509265 | AGRN | c.3867G>A (p.Pro1289=) c.3552G>A (p.Pro1184=) c.3453G>A (p.Pro1151=) c.2994G>A (p.Pro998=) c.2133G>A (p.Pro711=) n.3934G>A n.3938G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048127G>C | CA415758185 | AGRN | c.3867G>C (p.Pro1289=) c.3552G>C (p.Pro1184=) c.3453G>C (p.Pro1151=) c.2994G>C (p.Pro998=) c.2133G>C (p.Pro711=) n.3934G>C n.3938G>C | |
| 1 | g.1048127G= | CA1143833067 | AGRN | c.3867G= (p.Pro1289=) c.3552G= (p.Pro1184=) c.3453G= (p.Pro1151=) c.2994G= (p.Pro998=) c.2133G= (p.Pro711=) n.3934G= n.3938G= | |
| 1 | g.1048127G>T | CA415758183 | AGRN | c.3867G>T (p.Pro1289=) c.3552G>T (p.Pro1184=) c.3453G>T (p.Pro1151=) c.2994G>T (p.Pro998=) c.2133G>T (p.Pro711=) n.3934G>T n.3938G>T | gnomAD v4 |
| 1 | g.1048128C>A | CA337852767 | AGRN | c.3868C>A (p.His1290Asn) c.3553C>A (p.His1185Asn) c.3454C>A (p.His1152Asn) c.2995C>A (p.His999Asn) c.2134C>A (p.His712Asn) n.3935C>A n.3939C>A | gnomAD v4 |
| 1 | g.1048128C>G | CA337852770 | AGRN | c.3868C>G (p.His1290Asp) c.3553C>G (p.His1185Asp) c.3454C>G (p.His1152Asp) c.2995C>G (p.His999Asp) c.2134C>G (p.His712Asp) n.3935C>G n.3939C>G | |
| 1 | g.1048128C>T | CA337852773 | AGRN | c.3868C>T (p.His1290Tyr) c.3553C>T (p.His1185Tyr) c.3454C>T (p.His1152Tyr) c.2995C>T (p.His999Tyr) c.2134C>T (p.His712Tyr) n.3935C>T n.3939C>T | |
| 1 | g.1048129A= | CA1148803998 | AGRN | c.3869A= (p.His1290=) c.3554A= (p.His1185=) c.3455A= (p.His1152=) c.2996A= (p.His999=) c.2135A= (p.His712=) n.3936A= n.3940A= | |
| 1 | g.1048129A>C | CA509266 | AGRN | c.3869A>C (p.His1290Pro) c.3554A>C (p.His1185Pro) c.3455A>C (p.His1152Pro) c.2996A>C (p.His999Pro) c.2135A>C (p.His712Pro) n.3936A>C n.3940A>C | dbSNP ExAC gnomAD v4 |
| 1 | g.1048129A>G | CA337852777 | AGRN | c.3869A>G (p.His1290Arg) c.3554A>G (p.His1185Arg) c.3455A>G (p.His1152Arg) c.2996A>G (p.His999Arg) c.2135A>G (p.His712Arg) n.3936A>G n.3940A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048129A>T | CA337852774 | AGRN | c.3869A>T (p.His1290Leu) c.3554A>T (p.His1185Leu) c.3455A>T (p.His1152Leu) c.2996A>T (p.His999Leu) c.2135A>T (p.His712Leu) n.3936A>T n.3940A>T | |
| 1 | g.1048130C>A | CA337852794 | AGRN | c.3870C>A (p.His1290Gln) c.3555C>A (p.His1185Gln) c.3456C>A (p.His1152Gln) c.2997C>A (p.His999Gln) c.2136C>A (p.His712Gln) n.3937C>A n.3941C>A | ClinVar dbSNP |
| 1 | g.1048130C= | CA1148804004 | AGRN | c.3870C= (p.His1290=) c.3555C= (p.His1185=) c.3456C= (p.His1152=) c.2997C= (p.His999=) c.2136C= (p.His712=) n.3937C= n.3941C= | |
| 1 | g.1048130C>G | CA337852798 | AGRN | c.3870C>G (p.His1290Gln) c.3555C>G (p.His1185Gln) c.3456C>G (p.His1152Gln) c.2997C>G (p.His999Gln) c.2136C>G (p.His712Gln) n.3937C>G n.3941C>G | |
| 1 | g.1048130C>T | CA415758194 | AGRN | c.3870C>T (p.His1290=) c.3555C>T (p.His1185=) c.3456C>T (p.His1152=) c.2997C>T (p.His999=) c.2136C>T (p.His712=) n.3937C>T n.3941C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1048131C>A | CA337852799 | AGRN | c.3871C>A (p.Pro1291Thr) c.3556C>A (p.Pro1186Thr) c.3457C>A (p.Pro1153Thr) c.2998C>A (p.Pro1000Thr) c.2137C>A (p.Pro713Thr) n.3938C>A n.3942C>A | gnomAD v4 |
| 1 | g.1048131C>G | CA337852801 | AGRN | c.3871C>G (p.Pro1291Ala) c.3556C>G (p.Pro1186Ala) c.3457C>G (p.Pro1153Ala) c.2998C>G (p.Pro1000Ala) c.2137C>G (p.Pro713Ala) n.3938C>G n.3942C>G | gnomAD v4 |
| 1 | g.1048131C>T | CA337852803 | AGRN | c.3871C>T (p.Pro1291Ser) c.3556C>T (p.Pro1186Ser) c.3457C>T (p.Pro1153Ser) c.2998C>T (p.Pro1000Ser) c.2137C>T (p.Pro713Ser) n.3938C>T n.3942C>T | gnomAD v4 |
| 1 | g.1048132C>A | CA337852804 | AGRN | c.3872C>A (p.Pro1291His) c.3557C>A (p.Pro1186His) c.3458C>A (p.Pro1153His) c.2999C>A (p.Pro1000His) c.2138C>A (p.Pro713His) n.3939C>A n.3943C>A | gnomAD v4 |
| 1 | g.1048132C= | CA1148804029 | AGRN | c.3872C= (p.Pro1291=) c.3557C= (p.Pro1186=) c.3458C= (p.Pro1153=) c.2999C= (p.Pro1000=) c.2138C= (p.Pro713=) n.3939C= n.3943C= | |
| 1 | g.1048132C>G | CA337852805 | AGRN | c.3872C>G (p.Pro1291Arg) c.3557C>G (p.Pro1186Arg) c.3458C>G (p.Pro1153Arg) c.2999C>G (p.Pro1000Arg) c.2138C>G (p.Pro713Arg) n.3939C>G n.3943C>G | dbSNP gnomAD v2 |
| 1 | g.1048132C>T | CA337852806 | AGRN | c.3872C>T (p.Pro1291Leu) c.3557C>T (p.Pro1186Leu) c.3458C>T (p.Pro1153Leu) c.2999C>T (p.Pro1000Leu) c.2138C>T (p.Pro713Leu) n.3939C>T n.3943C>T | gnomAD v4 |
| 1 | g.1048133C>A | CA415758203 | AGRN | c.3873C>A (p.Pro1291=) c.3558C>A (p.Pro1186=) c.3459C>A (p.Pro1153=) c.3000C>A (p.Pro1000=) c.2139C>A (p.Pro713=) n.3940C>A n.3944C>A | gnomAD v4 |
| 1 | g.1048133C>G | CA415758206 | AGRN | c.3873C>G (p.Pro1291=) c.3558C>G (p.Pro1186=) c.3459C>G (p.Pro1153=) c.3000C>G (p.Pro1000=) c.2139C>G (p.Pro713=) n.3940C>G n.3944C>G | gnomAD v4 |
| 1 | g.1048133C>T | CA415758207 | AGRN | c.3873C>T (p.Pro1291=) c.3558C>T (p.Pro1186=) c.3459C>T (p.Pro1153=) c.3000C>T (p.Pro1000=) c.2139C>T (p.Pro713=) n.3940C>T n.3944C>T | gnomAD v4 |
| 1 | g.1048134A>C | CA337852807 | AGRN | c.3874A>C (p.Ser1292Arg) c.3559A>C (p.Ser1187Arg) c.3460A>C (p.Ser1154Arg) c.3001A>C (p.Ser1001Arg) c.2140A>C (p.Ser714Arg) n.3941A>C n.3945A>C | dbSNP |
| 1 | g.1048134A>G | CA337852808 | AGRN | c.3874A>G (p.Ser1292Gly) c.3559A>G (p.Ser1187Gly) c.3460A>G (p.Ser1154Gly) c.3001A>G (p.Ser1001Gly) c.2140A>G (p.Ser714Gly) n.3941A>G n.3945A>G | gnomAD v4 |
| 1 | g.1048134A>T | CA337852809 | AGRN | c.3874A>T (p.Ser1292Cys) c.3559A>T (p.Ser1187Cys) c.3460A>T (p.Ser1154Cys) c.3001A>T (p.Ser1001Cys) c.2140A>T (p.Ser714Cys) n.3941A>T n.3945A>T | |
| 1 | g.1048135G>A | CA337852812 | AGRN | c.3875G>A (p.Ser1292Asn) c.3560G>A (p.Ser1187Asn) c.3461G>A (p.Ser1154Asn) c.3002G>A (p.Ser1001Asn) c.2141G>A (p.Ser714Asn) n.3942G>A n.3946G>A | dbSNP gnomAD v2 |
| 1 | g.1048135G>C | CA337852814 | AGRN | c.3875G>C (p.Ser1292Thr) c.3560G>C (p.Ser1187Thr) c.3461G>C (p.Ser1154Thr) c.3002G>C (p.Ser1001Thr) c.2141G>C (p.Ser714Thr) n.3942G>C n.3946G>C | |
| 1 | g.1048135G= | CA1148804030 | AGRN | c.3875G= (p.Ser1292=) c.3560G= (p.Ser1187=) c.3461G= (p.Ser1154=) c.3002G= (p.Ser1001=) c.2141G= (p.Ser714=) n.3942G= n.3946G= | |
| 1 | g.1048135G>T | CA337852810 | AGRN | c.3875G>T (p.Ser1292Ile) c.3560G>T (p.Ser1187Ile) c.3461G>T (p.Ser1154Ile) c.3002G>T (p.Ser1001Ile) c.2141G>T (p.Ser714Ile) n.3942G>T n.3946G>T | gnomAD v4 |
| 1 | g.1048136T>A | CA337852816 | AGRN | c.3876T>A (p.Ser1292Arg) c.3561T>A (p.Ser1187Arg) c.3462T>A (p.Ser1154Arg) c.3003T>A (p.Ser1001Arg) c.2142T>A (p.Ser714Arg) n.3943T>A n.3947T>A | gnomAD v4 |
| 1 | g.1048136T>C | CA415758208 | AGRN | c.3876T>C (p.Ser1292=) c.3561T>C (p.Ser1187=) c.3462T>C (p.Ser1154=) c.3003T>C (p.Ser1001=) c.2142T>C (p.Ser714=) n.3943T>C n.3947T>C | gnomAD v4 |
| 1 | g.1048136T>G | CA337852818 | AGRN | c.3876T>G (p.Ser1292Arg) c.3561T>G (p.Ser1187Arg) c.3462T>G (p.Ser1154Arg) c.3003T>G (p.Ser1001Arg) c.2142T>G (p.Ser714Arg) n.3943T>G n.3947T>G | |
| 1 | g.1048136_1048138delinsTCA | CA1148804032 | AGRN | c.3876_3878delinsTCA (p.Ser1292=) c.3561_3563delinsTCA (p.Ser1187=) c.3462_3464delinsTCA (p.Ser1154=) c.3003_3005delinsTCA (p.Ser1001=) c.2142_2144delinsTCA (p.Ser714=) n.3943_3945delinsTCA n.3947_3949delinsTCA | |
| 1 | g.1048137C>A | CA337852823 | AGRN | c.3877C>A (p.His1293Asn) c.3562C>A (p.His1188Asn) c.3463C>A (p.His1155Asn) c.3004C>A (p.His1002Asn) c.2143C>A (p.His715Asn) n.3944C>A n.3948C>A | gnomAD v4 |
| 1 | g.1048137C>G | CA337852824 | AGRN | c.3877C>G (p.His1293Asp) c.3562C>G (p.His1188Asp) c.3463C>G (p.His1155Asp) c.3004C>G (p.His1002Asp) c.2143C>G (p.His715Asp) n.3944C>G n.3948C>G | |
| 1 | g.1048137C>T | CA337852826 | AGRN | c.3877C>T (p.His1293Tyr) c.3562C>T (p.His1188Tyr) c.3463C>T (p.His1155Tyr) c.3004C>T (p.His1002Tyr) c.2143C>T (p.His715Tyr) n.3944C>T n.3948C>T | gnomAD v4 |
| 1 | g.1048141_1048142del | CA997654956 | AGRN | c.3881_3882del (p.Thr1294LysfsTer?) c.3566_3567del (p.Thr1189LysfsTer?) c.3467_3468del (p.Thr1156LysfsTer?) c.3008_3009del (p.Thr1003LysfsTer?) c.2147_2148del (p.Thr716LysfsTer?) n.3948_3949del n.3952_3953del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1048138A>C | CA337852831 | AGRN | c.3878A>C (p.His1293Pro) c.3563A>C (p.His1188Pro) c.3464A>C (p.His1155Pro) c.3005A>C (p.His1002Pro) c.2144A>C (p.His715Pro) n.3945A>C n.3949A>C | |
| 1 | g.1048138A>G | CA337852827 | AGRN | c.3878A>G (p.His1293Arg) c.3563A>G (p.His1188Arg) c.3464A>G (p.His1155Arg) c.3005A>G (p.His1002Arg) c.2144A>G (p.His715Arg) n.3945A>G n.3949A>G | |
| 1 | g.1048138A>T | CA337852828 | AGRN | c.3878A>T (p.His1293Leu) c.3563A>T (p.His1188Leu) c.3464A>T (p.His1155Leu) c.3005A>T (p.His1002Leu) c.2144A>T (p.His715Leu) n.3945A>T n.3949A>T | gnomAD v4 |
| 1 | g.1048139C>A | CA337852833 | AGRN | c.3879C>A (p.His1293Gln) c.3564C>A (p.His1188Gln) c.3465C>A (p.His1155Gln) c.3006C>A (p.His1002Gln) c.2145C>A (p.His715Gln) n.3946C>A n.3950C>A | |
| 1 | g.1048139C>G | CA337852835 | AGRN | c.3879C>G (p.His1293Gln) c.3564C>G (p.His1188Gln) c.3465C>G (p.His1155Gln) c.3006C>G (p.His1002Gln) c.2145C>G (p.His715Gln) n.3946C>G n.3950C>G | |
| 1 | g.1048139C>T | CA415758217 | AGRN | c.3879C>T (p.His1293=) c.3564C>T (p.His1188=) c.3465C>T (p.His1155=) c.3006C>T (p.His1002=) c.2145C>T (p.His715=) n.3946C>T n.3950C>T | |
| 1 | g.1048140A>C | CA337852848 | AGRN | c.3880A>C (p.Thr1294Pro) c.3565A>C (p.Thr1189Pro) c.3466A>C (p.Thr1156Pro) c.3007A>C (p.Thr1003Pro) c.2146A>C (p.Thr716Pro) n.3947A>C n.3951A>C | |
| 1 | g.1048140A>G | CA337852850 | AGRN | c.3880A>G (p.Thr1294Ala) c.3565A>G (p.Thr1189Ala) c.3466A>G (p.Thr1156Ala) c.3007A>G (p.Thr1003Ala) c.2146A>G (p.Thr716Ala) n.3947A>G n.3951A>G | |
| 1 | g.1048140A>T | CA337852852 | AGRN | c.3880A>T (p.Thr1294Ser) c.3565A>T (p.Thr1189Ser) c.3466A>T (p.Thr1156Ser) c.3007A>T (p.Thr1003Ser) c.2146A>T (p.Thr716Ser) n.3947A>T n.3951A>T | |
| 1 | g.1048141C>A | CA337852854 | AGRN | c.3881C>A (p.Thr1294Lys) c.3566C>A (p.Thr1189Lys) c.3467C>A (p.Thr1156Lys) c.3008C>A (p.Thr1003Lys) c.2147C>A (p.Thr716Lys) n.3948C>A n.3952C>A | gnomAD v4 |
| 1 | g.1048141C= | CA1148804039 | AGRN | c.3881C= (p.Thr1294=) c.3566C= (p.Thr1189=) c.3467C= (p.Thr1156=) c.3008C= (p.Thr1003=) c.2147C= (p.Thr716=) n.3948C= n.3952C= | |
| 1 | g.1048141C>G | CA337852858 | AGRN | c.3881C>G (p.Thr1294Arg) c.3566C>G (p.Thr1189Arg) c.3467C>G (p.Thr1156Arg) c.3008C>G (p.Thr1003Arg) c.2147C>G (p.Thr716Arg) n.3948C>G n.3952C>G | ClinVar |
| 1 | g.1048141C>T | CA337852856 | AGRN | c.3881C>T (p.Thr1294Ile) c.3566C>T (p.Thr1189Ile) c.3467C>T (p.Thr1156Ile) c.3008C>T (p.Thr1003Ile) c.2147C>T (p.Thr716Ile) n.3948C>T n.3952C>T | dbSNP gnomAD v4 |
| 1 | g.1048142A= | CA1148804046 | AGRN | c.3882A= (p.Thr1294=) c.3567A= (p.Thr1189=) c.3468A= (p.Thr1156=) c.3009A= (p.Thr1003=) c.2148A= (p.Thr716=) n.3949A= n.3953A= | |
| 1 | g.1048142A>C | CA415758226 | AGRN | c.3882A>C (p.Thr1294=) c.3567A>C (p.Thr1189=) c.3468A>C (p.Thr1156=) c.3009A>C (p.Thr1003=) c.2148A>C (p.Thr716=) n.3949A>C n.3953A>C | |
| 1 | g.1048142A>G | CA415758224 | AGRN | c.3882A>G (p.Thr1294=) c.3567A>G (p.Thr1189=) c.3468A>G (p.Thr1156=) c.3009A>G (p.Thr1003=) c.2148A>G (p.Thr716=) n.3949A>G n.3953A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1048142A>T | CA415758223 | AGRN | c.3882A>T (p.Thr1294=) c.3567A>T (p.Thr1189=) c.3468A>T (p.Thr1156=) c.3009A>T (p.Thr1003=) c.2148A>T (p.Thr716=) n.3949A>T n.3953A>T | |
| 1 | g.1048143A>C | CA337852860 | AGRN | c.3883A>C (p.Ser1295Arg) c.3568A>C (p.Ser1190Arg) c.3469A>C (p.Ser1157Arg) c.3010A>C (p.Ser1004Arg) c.2149A>C (p.Ser717Arg) n.3950A>C n.3954A>C | |
| 1 | g.1048143A>G | CA337852861 | AGRN | c.3883A>G (p.Ser1295Gly) c.3568A>G (p.Ser1190Gly) c.3469A>G (p.Ser1157Gly) c.3010A>G (p.Ser1004Gly) c.2149A>G (p.Ser717Gly) n.3950A>G n.3954A>G | gnomAD v4 |
| 1 | g.1048143A>T | CA337852864 | AGRN | c.3883A>T (p.Ser1295Cys) c.3568A>T (p.Ser1190Cys) c.3469A>T (p.Ser1157Cys) c.3010A>T (p.Ser1004Cys) c.2149A>T (p.Ser717Cys) n.3950A>T n.3954A>T | |
| 1 | g.1048144G>A | CA337852869 | AGRN | c.3884G>A (p.Ser1295Asn) c.3569G>A (p.Ser1190Asn) c.3470G>A (p.Ser1157Asn) c.3011G>A (p.Ser1004Asn) c.2150G>A (p.Ser717Asn) n.3951G>A n.3955G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1048144G>C | CA509267 | AGRN | c.3884G>C (p.Ser1295Thr) c.3569G>C (p.Ser1190Thr) c.3470G>C (p.Ser1157Thr) c.3011G>C (p.Ser1004Thr) c.2150G>C (p.Ser717Thr) n.3951G>C n.3955G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1048144G= | CA1148804089 | AGRN | c.3884G= (p.Ser1295=) c.3569G= (p.Ser1190=) c.3470G= (p.Ser1157=) c.3011G= (p.Ser1004=) c.2150G= (p.Ser717=) n.3951G= n.3955G= | |
| 1 | g.1048144G>T | CA337852879 | AGRN | c.3884G>T (p.Ser1295Ile) c.3569G>T (p.Ser1190Ile) c.3470G>T (p.Ser1157Ile) c.3011G>T (p.Ser1004Ile) c.2150G>T (p.Ser717Ile) n.3951G>T n.3955G>T | gnomAD v4 |
| 1 | g.1048145C>A | CA337852880 | AGRN | c.3885C>A (p.Ser1295Arg) c.3570C>A (p.Ser1190Arg) c.3471C>A (p.Ser1157Arg) c.3012C>A (p.Ser1004Arg) c.2151C>A (p.Ser717Arg) n.3952C>A n.3956C>A | gnomAD v4 |
| 1 | g.1048145C= | CA1148804098 | AGRN | c.3885C= (p.Ser1295=) c.3570C= (p.Ser1190=) c.3471C= (p.Ser1157=) c.3012C= (p.Ser1004=) c.2151C= (p.Ser717=) n.3952C= n.3956C= | |
| 1 | g.1048145C>G | CA337852881 | AGRN | c.3885C>G (p.Ser1295Arg) c.3570C>G (p.Ser1190Arg) c.3471C>G (p.Ser1157Arg) c.3012C>G (p.Ser1004Arg) c.2151C>G (p.Ser717Arg) n.3952C>G n.3956C>G | dbSNP gnomAD v2 |
| 1 | g.1048145C>T | CA509268 | AGRN | c.3885C>T (p.Ser1295=) c.3570C>T (p.Ser1190=) c.3471C>T (p.Ser1157=) c.3012C>T (p.Ser1004=) c.2151C>T (p.Ser717=) n.3952C>T n.3956C>T | dbSNP ExAC gnomAD v4 |
| 1 | g.1048146C>A | CA337852882 | AGRN | c.3886C>A (p.Gln1296Lys) c.3571C>A (p.Gln1191Lys) c.3472C>A (p.Gln1158Lys) c.3013C>A (p.Gln1005Lys) c.2152C>A (p.Gln718Lys) n.3953C>A n.3957C>A | gnomAD v4 |
| 1 | g.1048146C= | CA1148804104 | AGRN | c.3886C= (p.Gln1296=) c.3571C= (p.Gln1191=) c.3472C= (p.Gln1158=) c.3013C= (p.Gln1005=) c.2152C= (p.Gln718=) n.3953C= n.3957C= | |
| 1 | g.1048146C>G | CA337852884 | AGRN | c.3886C>G (p.Gln1296Glu) c.3571C>G (p.Gln1191Glu) c.3472C>G (p.Gln1158Glu) c.3013C>G (p.Gln1005Glu) c.2152C>G (p.Gln718Glu) n.3953C>G n.3957C>G | |
| 1 | g.1048146C>T | CA337852886 | AGRN | c.3886C>T (p.Gln1296Ter) c.3571C>T (p.Gln1191Ter) c.3472C>T (p.Gln1158Ter) c.3013C>T (p.Gln1005Ter) c.2152C>T (p.Gln718Ter) n.3953C>T n.3957C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048147A>C | CA337852890 | AGRN | c.3887A>C (p.Gln1296Pro) c.3572A>C (p.Gln1191Pro) c.3473A>C (p.Gln1158Pro) c.3014A>C (p.Gln1005Pro) c.2153A>C (p.Gln718Pro) n.3954A>C n.3958A>C | |
| 1 | g.1048147A>G | CA337852894 | AGRN | c.3887A>G (p.Gln1296Arg) c.3572A>G (p.Gln1191Arg) c.3473A>G (p.Gln1158Arg) c.3014A>G (p.Gln1005Arg) c.2153A>G (p.Gln718Arg) n.3954A>G n.3958A>G | |
| 1 | g.1048147A>T | CA337852889 | AGRN | c.3887A>T (p.Gln1296Leu) c.3572A>T (p.Gln1191Leu) c.3473A>T (p.Gln1158Leu) c.3014A>T (p.Gln1005Leu) c.2153A>T (p.Gln718Leu) n.3954A>T n.3958A>T | |
| 1 | g.1048148G>A | CA415758239 | AGRN | c.3888G>A (p.Gln1296=) c.3573G>A (p.Gln1191=) c.3474G>A (p.Gln1158=) c.3015G>A (p.Gln1005=) c.2154G>A (p.Gln718=) n.3955G>A n.3959G>A | gnomAD v4 |
| 1 | g.1048148G>C | CA337852897 | AGRN | c.3888G>C (p.Gln1296His) c.3573G>C (p.Gln1191His) c.3474G>C (p.Gln1158His) c.3015G>C (p.Gln1005His) c.2154G>C (p.Gln718His) n.3955G>C n.3959G>C | |
| 1 | g.1048148G>T | CA337852900 | AGRN | c.3888G>T (p.Gln1296His) c.3573G>T (p.Gln1191His) c.3474G>T (p.Gln1158His) c.3015G>T (p.Gln1005His) c.2154G>T (p.Gln718His) n.3955G>T n.3959G>T | gnomAD v4 |
| 1 | g.1048149C>A | CA337852903 | AGRN | c.3889C>A (p.Pro1297Thr) c.3574C>A (p.Pro1192Thr) c.3475C>A (p.Pro1159Thr) c.3016C>A (p.Pro1006Thr) c.2155C>A (p.Pro719Thr) n.3956C>A n.3960C>A | gnomAD v4 |
| 1 | g.1048149C>G | CA337852906 | AGRN | c.3889C>G (p.Pro1297Ala) c.3574C>G (p.Pro1192Ala) c.3475C>G (p.Pro1159Ala) c.3016C>G (p.Pro1006Ala) c.2155C>G (p.Pro719Ala) n.3956C>G n.3960C>G | |
| 1 | g.1048149C>T | CA337852909 | AGRN | c.3889C>T (p.Pro1297Ser) c.3574C>T (p.Pro1192Ser) c.3475C>T (p.Pro1159Ser) c.3016C>T (p.Pro1006Ser) c.2155C>T (p.Pro719Ser) n.3956C>T n.3960C>T | dbSNP gnomAD v4 COSMIC |
| 1 | g.1048150C>A | CA337852918 | AGRN | c.3890C>A (p.Pro1297His) c.3575C>A (p.Pro1192His) c.3476C>A (p.Pro1159His) c.3017C>A (p.Pro1006His) c.2156C>A (p.Pro719His) n.3957C>A n.3961C>A | gnomAD v4 |
| 1 | g.1048150C>G | CA337852919 | AGRN | c.3890C>G (p.Pro1297Arg) c.3575C>G (p.Pro1192Arg) c.3476C>G (p.Pro1159Arg) c.3017C>G (p.Pro1006Arg) c.2156C>G (p.Pro719Arg) n.3957C>G n.3961C>G | |
| 1 | g.1048150C>T | CA337852920 | AGRN | c.3890C>T (p.Pro1297Leu) c.3575C>T (p.Pro1192Leu) c.3476C>T (p.Pro1159Leu) c.3017C>T (p.Pro1006Leu) c.2156C>T (p.Pro719Leu) n.3957C>T n.3961C>T | |
| 1 | g.1048151C>A | CA415758246 | AGRN | c.3891C>A (p.Pro1297=) c.3576C>A (p.Pro1192=) c.3477C>A (p.Pro1159=) c.3018C>A (p.Pro1006=) c.2157C>A (p.Pro719=) n.3958C>A n.3962C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048151C= | CA1148804122 | AGRN | c.3891C= (p.Pro1297=) c.3576C= (p.Pro1192=) c.3477C= (p.Pro1159=) c.3018C= (p.Pro1006=) c.2157C= (p.Pro719=) n.3958C= n.3962C= | |
| 1 | g.1048151C>G | CA415758249 | AGRN | c.3891C>G (p.Pro1297=) c.3576C>G (p.Pro1192=) c.3477C>G (p.Pro1159=) c.3018C>G (p.Pro1006=) c.2157C>G (p.Pro719=) n.3958C>G n.3962C>G | |
| 1 | g.1048151C>T | CA16760233 | AGRN | c.3891C>T (p.Pro1297=) c.3576C>T (p.Pro1192=) c.3477C>T (p.Pro1159=) c.3018C>T (p.Pro1006=) c.2157C>T (p.Pro719=) n.3958C>T n.3962C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048152G>A | CA16760236 | AGRN | c.3892G>A (p.Val1298Ile) c.3577G>A (p.Val1193Ile) c.3478G>A (p.Val1160Ile) c.3019G>A (p.Val1007Ile) c.2158G>A (p.Val720Ile) n.3959G>A n.3963G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.1048152G>C | CA337852921 | AGRN | c.3892G>C (p.Val1298Leu) c.3577G>C (p.Val1193Leu) c.3478G>C (p.Val1160Leu) c.3019G>C (p.Val1007Leu) c.2158G>C (p.Val720Leu) n.3959G>C n.3963G>C | |
| 1 | g.1048152G= | CA1148804129 | AGRN | c.3892G= (p.Val1298=) c.3577G= (p.Val1193=) c.3478G= (p.Val1160=) c.3019G= (p.Val1007=) c.2158G= (p.Val720=) n.3959G= n.3963G= | |
| 1 | g.1048152G>T | CA337852922 | AGRN | c.3892G>T (p.Val1298Phe) c.3577G>T (p.Val1193Phe) c.3478G>T (p.Val1160Phe) c.3019G>T (p.Val1007Phe) c.2158G>T (p.Val720Phe) n.3959G>T n.3963G>T | gnomAD v4 |
| 1 | g.1048153T>A | CA337852924 | AGRN | c.3893T>A (p.Val1298Asp) c.3578T>A (p.Val1193Asp) c.3479T>A (p.Val1160Asp) c.3020T>A (p.Val1007Asp) c.2159T>A (p.Val720Asp) n.3960T>A n.3964T>A | |
| 1 | g.1048153T>C | CA337852926 | AGRN | c.3893T>C (p.Val1298Ala) c.3578T>C (p.Val1193Ala) c.3479T>C (p.Val1160Ala) c.3020T>C (p.Val1007Ala) c.2159T>C (p.Val720Ala) n.3960T>C n.3964T>C | gnomAD v4 |
| 1 | g.1048153T>G | CA337852929 | AGRN | c.3893T>G (p.Val1298Gly) c.3578T>G (p.Val1193Gly) c.3479T>G (p.Val1160Gly) c.3020T>G (p.Val1007Gly) c.2159T>G (p.Val720Gly) n.3960T>G n.3964T>G | |
| 1 | g.1048154T>A | CA415758255 | AGRN | c.3894T>A (p.Val1298=) c.3579T>A (p.Val1193=) c.3480T>A (p.Val1160=) c.3021T>A (p.Val1007=) c.2160T>A (p.Val720=) n.3961T>A n.3965T>A | |
| 1 | g.1048154T>C | CA509270 | AGRN | c.3894T>C (p.Val1298=) c.3579T>C (p.Val1193=) c.3480T>C (p.Val1160=) c.3021T>C (p.Val1007=) c.2160T>C (p.Val720=) n.3961T>C n.3965T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048154T>G | CA509269 | AGRN | c.3894T>G (p.Val1298=) c.3579T>G (p.Val1193=) c.3480T>G (p.Val1160=) c.3021T>G (p.Val1007=) c.2160T>G (p.Val720=) n.3961T>G n.3965T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1048154T= | CA1148804134 | AGRN | c.3894T= (p.Val1298=) c.3579T= (p.Val1193=) c.3480T= (p.Val1160=) c.3021T= (p.Val1007=) c.2160T= (p.Val720=) n.3961T= n.3965T= | |
| 1 | g.1048155G>A | CA16760241 | AGRN | c.3895G>A (p.Ala1299Thr) c.3580G>A (p.Ala1194Thr) c.3481G>A (p.Ala1161Thr) c.3022G>A (p.Ala1008Thr) c.2161G>A (p.Ala721Thr) n.3962G>A n.3966G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048155G>C | CA337852934 | AGRN | c.3895G>C (p.Ala1299Pro) c.3580G>C (p.Ala1194Pro) c.3481G>C (p.Ala1161Pro) c.3022G>C (p.Ala1008Pro) c.2161G>C (p.Ala721Pro) n.3962G>C n.3966G>C | |
| 1 | g.1048155G= | CA1148804139 | AGRN | c.3895G= (p.Ala1299=) c.3580G= (p.Ala1194=) c.3481G= (p.Ala1161=) c.3022G= (p.Ala1008=) c.2161G= (p.Ala721=) n.3962G= n.3966G= | |
| 1 | g.1048155G>T | CA337852936 | AGRN | c.3895G>T (p.Ala1299Ser) c.3580G>T (p.Ala1194Ser) c.3481G>T (p.Ala1161Ser) c.3022G>T (p.Ala1008Ser) c.2161G>T (p.Ala721Ser) n.3962G>T n.3966G>T | gnomAD v4 |
| 1 | g.1048156C>A | CA337852938 | AGRN | c.3896C>A (p.Ala1299Asp) c.3581C>A (p.Ala1194Asp) c.3482C>A (p.Ala1161Asp) c.3023C>A (p.Ala1008Asp) c.2162C>A (p.Ala721Asp) n.3963C>A n.3967C>A | gnomAD v4 |
| 1 | g.1048156C>G | CA337852939 | AGRN | c.3896C>G (p.Ala1299Gly) c.3581C>G (p.Ala1194Gly) c.3482C>G (p.Ala1161Gly) c.3023C>G (p.Ala1008Gly) c.2162C>G (p.Ala721Gly) n.3963C>G n.3967C>G | |
| 1 | g.1048156C>T | CA337852941 | AGRN | c.3896C>T (p.Ala1299Val) c.3581C>T (p.Ala1194Val) c.3482C>T (p.Ala1161Val) c.3023C>T (p.Ala1008Val) c.2162C>T (p.Ala721Val) n.3963C>T n.3967C>T | gnomAD v4 |
| 1 | g.1048157C>A | CA415758261 | AGRN | c.3897C>A (p.Ala1299=) c.3582C>A (p.Ala1194=) c.3483C>A (p.Ala1161=) c.3024C>A (p.Ala1008=) c.2163C>A (p.Ala721=) n.3964C>A n.3968C>A | gnomAD v4 |
| 1 | g.1048157C= | CA1148804149 | AGRN | c.3897C= (p.Ala1299=) c.3582C= (p.Ala1194=) c.3483C= (p.Ala1161=) c.3024C= (p.Ala1008=) c.2163C= (p.Ala721=) n.3964C= n.3968C= | |
| 1 | g.1048157C>G | CA415758260 | AGRN | c.3897C>G (p.Ala1299=) c.3582C>G (p.Ala1194=) c.3483C>G (p.Ala1161=) c.3024C>G (p.Ala1008=) c.2163C>G (p.Ala721=) n.3964C>G n.3968C>G | dbSNP |
| 1 | g.1048157C>T | CA415758262 | AGRN | c.3897C>T (p.Ala1299=) c.3582C>T (p.Ala1194=) c.3483C>T (p.Ala1161=) c.3024C>T (p.Ala1008=) c.2163C>T (p.Ala721=) n.3964C>T n.3968C>T | gnomAD v4 |
| 1 | g.1048158A>C | CA337852947 | AGRN | c.3898A>C (p.Lys1300Gln) c.3583A>C (p.Lys1195Gln) c.3484A>C (p.Lys1162Gln) c.3025A>C (p.Lys1009Gln) c.2164A>C (p.Lys722Gln) n.3965A>C n.3969A>C | |
| 1 | g.1048158A>G | CA337852943 | AGRN | c.3898A>G (p.Lys1300Glu) c.3583A>G (p.Lys1195Glu) c.3484A>G (p.Lys1162Glu) c.3025A>G (p.Lys1009Glu) c.2164A>G (p.Lys722Glu) n.3965A>G n.3969A>G | |
| 1 | g.1048158A>T | CA337852945 | AGRN | c.3898A>T (p.Lys1300Ter) c.3583A>T (p.Lys1195Ter) c.3484A>T (p.Lys1162Ter) c.3025A>T (p.Lys1009Ter) c.2164A>T (p.Lys722Ter) n.3965A>T n.3969A>T | |
| 1 | g.1048159A>C | CA337852949 | AGRN | c.3899A>C (p.Lys1300Thr) c.3584A>C (p.Lys1195Thr) c.3485A>C (p.Lys1162Thr) c.3026A>C (p.Lys1009Thr) c.2165A>C (p.Lys722Thr) n.3966A>C n.3970A>C | |
| 1 | g.1048159A>G | CA337852951 | AGRN | c.3899A>G (p.Lys1300Arg) c.3584A>G (p.Lys1195Arg) c.3485A>G (p.Lys1162Arg) c.3026A>G (p.Lys1009Arg) c.2165A>G (p.Lys722Arg) n.3966A>G n.3970A>G | |
| 1 | g.1048159A>T | CA337852952 | AGRN | c.3899A>T (p.Lys1300Met) c.3584A>T (p.Lys1195Met) c.3485A>T (p.Lys1162Met) c.3026A>T (p.Lys1009Met) c.2165A>T (p.Lys722Met) n.3966A>T n.3970A>T | gnomAD v4 |
| 1 | g.1048160G>A | CA415758266 | AGRN | c.3900G>A (p.Lys1300=) c.3585G>A (p.Lys1195=) c.3486G>A (p.Lys1162=) c.3027G>A (p.Lys1009=) c.2166G>A (p.Lys722=) n.3967G>A n.3971G>A | |
| 1 | g.1048160G>C | CA337852954 | AGRN | c.3900G>C (p.Lys1300Asn) c.3585G>C (p.Lys1195Asn) c.3486G>C (p.Lys1162Asn) c.3027G>C (p.Lys1009Asn) c.2166G>C (p.Lys722Asn) n.3967G>C n.3971G>C | gnomAD v4 |
| 1 | g.1048160G>T | CA337852955 | AGRN | c.3900G>T (p.Lys1300Asn) c.3585G>T (p.Lys1195Asn) c.3486G>T (p.Lys1162Asn) c.3027G>T (p.Lys1009Asn) c.2166G>T (p.Lys722Asn) n.3967G>T n.3971G>T | gnomAD v4 |
| 1 | g.1048161A>C | CA337852958 | AGRN | c.3901A>C (p.Thr1301Pro) c.3586A>C (p.Thr1196Pro) c.3487A>C (p.Thr1163Pro) c.3028A>C (p.Thr1010Pro) c.2167A>C (p.Thr723Pro) n.3968A>C n.3972A>C | |
| 1 | g.1048161A>G | CA337852961 | AGRN | c.3901A>G (p.Thr1301Ala) c.3586A>G (p.Thr1196Ala) c.3487A>G (p.Thr1163Ala) c.3028A>G (p.Thr1010Ala) c.2167A>G (p.Thr723Ala) n.3968A>G n.3972A>G | |
| 1 | g.1048161A>T | CA337852960 | AGRN | c.3901A>T (p.Thr1301Ser) c.3586A>T (p.Thr1196Ser) c.3487A>T (p.Thr1163Ser) c.3028A>T (p.Thr1010Ser) c.2167A>T (p.Thr723Ser) n.3968A>T n.3972A>T | |
| 1 | g.1048162C>A | CA337852964 | AGRN | c.3902C>A (p.Thr1301Asn) c.3587C>A (p.Thr1196Asn) c.3488C>A (p.Thr1163Asn) c.3029C>A (p.Thr1010Asn) c.2168C>A (p.Thr723Asn) n.3969C>A n.3973C>A | dbSNP gnomAD v2 |
| 1 | g.1048162C= | CA1148804158 | AGRN | c.3902C= (p.Thr1301=) c.3587C= (p.Thr1196=) c.3488C= (p.Thr1163=) c.3029C= (p.Thr1010=) c.2168C= (p.Thr723=) n.3969C= n.3973C= | |
| 1 | g.1048162C>G | CA16760243 | AGRN | c.3902C>G (p.Thr1301Ser) c.3587C>G (p.Thr1196Ser) c.3488C>G (p.Thr1163Ser) c.3029C>G (p.Thr1010Ser) c.2168C>G (p.Thr723Ser) n.3969C>G n.3973C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048162C>T | CA337852966 | AGRN | c.3902C>T (p.Thr1301Ile) c.3587C>T (p.Thr1196Ile) c.3488C>T (p.Thr1163Ile) c.3029C>T (p.Thr1010Ile) c.2168C>T (p.Thr723Ile) n.3969C>T n.3973C>T | gnomAD v4 |
| 1 | g.1048163del | CA2642492198 | AGRN | c.3903del (p.Thr1302ArgfsTer?) c.3588del (p.Thr1197ArgfsTer?) c.3489del (p.Thr1164ArgfsTer?) c.3030del (p.Thr1011ArgfsTer?) c.2169del (p.Thr724ArgfsTer?) n.3970del n.3974del | gnomAD v4 |
| 1 | g.1048163C>A | CA415758273 | AGRN | c.3903C>A (p.Thr1301=) c.3588C>A (p.Thr1196=) c.3489C>A (p.Thr1163=) c.3030C>A (p.Thr1010=) c.2169C>A (p.Thr723=) n.3970C>A n.3974C>A | gnomAD v4 |
| 1 | g.1048163C= | CA1148804161 | AGRN | c.3903C= (p.Thr1301=) c.3588C= (p.Thr1196=) c.3489C= (p.Thr1163=) c.3030C= (p.Thr1010=) c.2169C= (p.Thr723=) n.3970C= n.3974C= | |
| 1 | g.1048163C>G | CA415758274 | AGRN | c.3903C>G (p.Thr1301=) c.3588C>G (p.Thr1196=) c.3489C>G (p.Thr1163=) c.3030C>G (p.Thr1010=) c.2169C>G (p.Thr723=) n.3970C>G n.3974C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1048163C>T | CA415758275 | AGRN | c.3903C>T (p.Thr1301=) c.3588C>T (p.Thr1196=) c.3489C>T (p.Thr1163=) c.3030C>T (p.Thr1010=) c.2169C>T (p.Thr723=) n.3970C>T n.3974C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048164A= | CA1148804168 | AGRN | c.3904A= (p.Thr1302=) c.3589A= (p.Thr1197=) c.3490A= (p.Thr1164=) c.3031A= (p.Thr1011=) c.2170A= (p.Thr724=) n.3971A= n.3975A= | |
| 1 | g.1048164A>C | CA337852969 | AGRN | c.3904A>C (p.Thr1302Pro) c.3589A>C (p.Thr1197Pro) c.3490A>C (p.Thr1164Pro) c.3031A>C (p.Thr1011Pro) c.2170A>C (p.Thr724Pro) n.3971A>C n.3975A>C | |
| 1 | g.1048164A>G | CA337852970 | AGRN | c.3904A>G (p.Thr1302Ala) c.3589A>G (p.Thr1197Ala) c.3490A>G (p.Thr1164Ala) c.3031A>G (p.Thr1011Ala) c.2170A>G (p.Thr724Ala) n.3971A>G n.3975A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048164A>T | CA337852971 | AGRN | c.3904A>T (p.Thr1302Ser) c.3589A>T (p.Thr1197Ser) c.3490A>T (p.Thr1164Ser) c.3031A>T (p.Thr1011Ser) c.2170A>T (p.Thr724Ser) n.3971A>T n.3975A>T | |
| 1 | g.1048165C>A | CA337852973 | AGRN | c.3905C>A (p.Thr1302Lys) c.3590C>A (p.Thr1197Lys) c.3491C>A (p.Thr1164Lys) c.3032C>A (p.Thr1011Lys) c.2171C>A (p.Thr724Lys) n.3972C>A n.3976C>A | gnomAD v4 |
| 1 | g.1048165C= | CA1148269818 | AGRN | c.3905C= (p.Thr1302=) c.3590C= (p.Thr1197=) c.3491C= (p.Thr1164=) c.3032C= (p.Thr1011=) c.2171C= (p.Thr724=) n.3972C= n.3976C= | |
| 1 | g.1048165C>G | CA337852976 | AGRN | c.3905C>G (p.Thr1302Arg) c.3590C>G (p.Thr1197Arg) c.3491C>G (p.Thr1164Arg) c.3032C>G (p.Thr1011Arg) c.2171C>G (p.Thr724Arg) n.3972C>G n.3976C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048165C>T | CA509271 | AGRN | c.3905C>T (p.Thr1302Met) c.3590C>T (p.Thr1197Met) c.3491C>T (p.Thr1164Met) c.3032C>T (p.Thr1011Met) c.2171C>T (p.Thr724Met) n.3972C>T n.3976C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048166G>A | CA16760245 | AGRN | c.3906G>A (p.Thr1302=) c.3591G>A (p.Thr1197=) c.3492G>A (p.Thr1164=) c.3033G>A (p.Thr1011=) c.2172G>A (p.Thr724=) n.3973G>A n.3977G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048166G>C | CA415758281 | AGRN | c.3906G>C (p.Thr1302=) c.3591G>C (p.Thr1197=) c.3492G>C (p.Thr1164=) c.3033G>C (p.Thr1011=) c.2172G>C (p.Thr724=) n.3973G>C n.3977G>C | |
| 1 | g.1048166G= | CA1146051981 | AGRN | c.3906G= (p.Thr1302=) c.3591G= (p.Thr1197=) c.3492G= (p.Thr1164=) c.3033G= (p.Thr1011=) c.2172G= (p.Thr724=) n.3973G= n.3977G= | |
| 1 | g.1048166G>T | CA415758279 | AGRN | c.3906G>T (p.Thr1302=) c.3591G>T (p.Thr1197=) c.3492G>T (p.Thr1164=) c.3033G>T (p.Thr1011=) c.2172G>T (p.Thr724=) n.3973G>T n.3977G>T | gnomAD v4 |
| 1 | g.1048167G>A | CA337852980 | AGRN | c.3907G>A (p.Ala1303Thr) c.3592G>A (p.Ala1198Thr) c.3493G>A (p.Ala1165Thr) c.3034G>A (p.Ala1012Thr) c.2173G>A (p.Ala725Thr) n.3974G>A n.3978G>A | gnomAD v4 |
| 1 | g.1048167G>C | CA337852982 | AGRN | c.3907G>C (p.Ala1303Pro) c.3592G>C (p.Ala1198Pro) c.3493G>C (p.Ala1165Pro) c.3034G>C (p.Ala1012Pro) c.2173G>C (p.Ala725Pro) n.3974G>C n.3978G>C | |
| 1 | g.1048167G>T | CA337852983 | AGRN | c.3907G>T (p.Ala1303Ser) c.3592G>T (p.Ala1198Ser) c.3493G>T (p.Ala1165Ser) c.3034G>T (p.Ala1012Ser) c.2173G>T (p.Ala725Ser) n.3974G>T n.3978G>T | gnomAD v4 |
| 1 | g.1048168C>A | CA337852991 | AGRN | c.3908C>A (p.Ala1303Glu) c.3593C>A (p.Ala1198Glu) c.3494C>A (p.Ala1165Glu) c.3035C>A (p.Ala1012Glu) c.2174C>A (p.Ala725Glu) n.3975C>A n.3979C>A | gnomAD v4 |
| 1 | g.1048168C= | CA1148804184 | AGRN | c.3908C= (p.Ala1303=) c.3593C= (p.Ala1198=) c.3494C= (p.Ala1165=) c.3035C= (p.Ala1012=) c.2174C= (p.Ala725=) n.3975C= n.3979C= | |
| 1 | g.1048168C>G | CA337852985 | AGRN | c.3908C>G (p.Ala1303Gly) c.3593C>G (p.Ala1198Gly) c.3494C>G (p.Ala1165Gly) c.3035C>G (p.Ala1012Gly) c.2174C>G (p.Ala725Gly) n.3975C>G n.3979C>G | |
| 1 | g.1048168C>T | CA337852988 | AGRN | c.3908C>T (p.Ala1303Val) c.3593C>T (p.Ala1198Val) c.3494C>T (p.Ala1165Val) c.3035C>T (p.Ala1012Val) c.2174C>T (p.Ala725Val) n.3975C>T n.3979C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048169A>C | CA415758288 | AGRN | c.3909A>C (p.Ala1303=) c.3594A>C (p.Ala1198=) c.3495A>C (p.Ala1165=) c.3036A>C (p.Ala1012=) c.2175A>C (p.Ala725=) n.3976A>C n.3980A>C | dbSNP |
| 1 | g.1048169A>G | CA415758289 | AGRN | c.3909A>G (p.Ala1303=) c.3594A>G (p.Ala1198=) c.3495A>G (p.Ala1165=) c.3036A>G (p.Ala1012=) c.2175A>G (p.Ala725=) n.3976A>G n.3980A>G | dbSNP |
| 1 | g.1048169A>T | CA415758290 | AGRN | c.3909A>T (p.Ala1303=) c.3594A>T (p.Ala1198=) c.3495A>T (p.Ala1165=) c.3036A>T (p.Ala1012=) c.2175A>T (p.Ala725=) n.3976A>T n.3980A>T | |
| 1 | g.1048170G>A | CA509272 | AGRN | c.3910G>A (p.Ala1304Thr) c.3595G>A (p.Ala1199Thr) c.3496G>A (p.Ala1166Thr) c.3037G>A (p.Ala1013Thr) c.2176G>A (p.Ala726Thr) n.3977G>A n.3981G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048170G>C | CA337852997 | AGRN | c.3910G>C (p.Ala1304Pro) c.3595G>C (p.Ala1199Pro) c.3496G>C (p.Ala1166Pro) c.3037G>C (p.Ala1013Pro) c.2176G>C (p.Ala726Pro) n.3977G>C n.3981G>C | gnomAD v4 |
| 1 | g.1048170G= | CA1144070224 | AGRN | c.3910G= (p.Ala1304=) c.3595G= (p.Ala1199=) c.3496G= (p.Ala1166=) c.3037G= (p.Ala1013=) c.2176G= (p.Ala726=) n.3977G= n.3981G= | |
| 1 | g.1048170G>T | CA337852998 | AGRN | c.3910G>T (p.Ala1304Ser) c.3595G>T (p.Ala1199Ser) c.3496G>T (p.Ala1166Ser) c.3037G>T (p.Ala1013Ser) c.2176G>T (p.Ala726Ser) n.3977G>T n.3981G>T | gnomAD v4 |
| 1 | g.1048171C>A | CA337853000 | AGRN | c.3911C>A (p.Ala1304Asp) c.3596C>A (p.Ala1199Asp) c.3497C>A (p.Ala1166Asp) c.3038C>A (p.Ala1013Asp) c.2177C>A (p.Ala726Asp) n.3978C>A n.3982C>A | gnomAD v4 |
| 1 | g.1048171C= | CA1148804193 | AGRN | c.3911C= (p.Ala1304=) c.3596C= (p.Ala1199=) c.3497C= (p.Ala1166=) c.3038C= (p.Ala1013=) c.2177C= (p.Ala726=) n.3978C= n.3982C= | |
| 1 | g.1048171C>G | CA337853003 | AGRN | c.3911C>G (p.Ala1304Gly) c.3596C>G (p.Ala1199Gly) c.3497C>G (p.Ala1166Gly) c.3038C>G (p.Ala1013Gly) c.2177C>G (p.Ala726Gly) n.3978C>G n.3982C>G | dbSNP gnomAD v4 |
| 1 | g.1048171C>T | CA337853006 | AGRN | c.3911C>T (p.Ala1304Val) c.3596C>T (p.Ala1199Val) c.3497C>T (p.Ala1166Val) c.3038C>T (p.Ala1013Val) c.2177C>T (p.Ala726Val) n.3978C>T n.3982C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048175del | CA2574258711 | AGRN | c.3915del (p.Thr1306ProfsTer?) c.3600del (p.Thr1201ProfsTer?) c.3501del (p.Thr1168ProfsTer?) c.3042del (p.Thr1015ProfsTer?) c.2181del (p.Thr728ProfsTer?) n.3982del n.3986del | gnomAD v4 |
| 1 | g.1048181_1048198dup | CA2642492199 | AGRN | c.3921_3938dup (p.Thr1313_Ala1314insArgArgProProThrThr) c.3606_3623dup (p.Thr1208_Ala1209insArgArgProProThrThr) c.3507_3524dup (p.Thr1175_Ala1176insArgArgProProThrThr) c.3048_3065dup (p.Thr1022_Ala1023insArgArgProProThrThr) c.2187_2204dup (p.Thr735_Ala736insArgArgProProThrThr) n.3988_4005dup n.3992_4009dup | gnomAD v4 |
| 1 | g.1048181_1048198del | CA2642492200 | AGRN | c.3921_3938del (p.Arg1308_Thr1313del) c.3606_3623del (p.Arg1203_Thr1208del) c.3507_3524del (p.Arg1170_Thr1175del) c.3048_3065del (p.Arg1017_Thr1022del) c.2187_2204del (p.Arg730_Thr735del) n.3988_4005del n.3992_4009del | gnomAD v4 |
| 1 | g.1048172C>A | CA509273 | AGRN | c.3912C>A (p.Ala1304=) c.3597C>A (p.Ala1199=) c.3498C>A (p.Ala1166=) c.3039C>A (p.Ala1013=) c.2178C>A (p.Ala726=) n.3979C>A n.3983C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1048172C= | CA1148804203 | AGRN | c.3912C= (p.Ala1304=) c.3597C= (p.Ala1199=) c.3498C= (p.Ala1166=) c.3039C= (p.Ala1013=) c.2178C= (p.Ala726=) n.3979C= n.3983C= | |
| 1 | g.1048172C>G | CA415758295 | AGRN | c.3912C>G (p.Ala1304=) c.3597C>G (p.Ala1199=) c.3498C>G (p.Ala1166=) c.3039C>G (p.Ala1013=) c.2178C>G (p.Ala726=) n.3979C>G n.3983C>G | |
| 1 | g.1048172C>T | CA415758297 | AGRN | c.3912C>T (p.Ala1304=) c.3597C>T (p.Ala1199=) c.3498C>T (p.Ala1166=) c.3039C>T (p.Ala1013=) c.2178C>T (p.Ala726=) n.3979C>T n.3983C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1048173C>A | CA16760255 | AGRN | c.3913C>A (p.Pro1305Thr) c.3598C>A (p.Pro1200Thr) c.3499C>A (p.Pro1167Thr) c.3040C>A (p.Pro1014Thr) c.2179C>A (p.Pro727Thr) n.3980C>A n.3984C>A | dbSNP gnomAD v4 |
| 1 | g.1048173C= | CA1148804209 | AGRN | c.3913C= (p.Pro1305=) c.3598C= (p.Pro1200=) c.3499C= (p.Pro1167=) c.3040C= (p.Pro1014=) c.2179C= (p.Pro727=) n.3980C= n.3984C= | |
| 1 | g.1048173C>G | CA337853010 | AGRN | c.3913C>G (p.Pro1305Ala) c.3598C>G (p.Pro1200Ala) c.3499C>G (p.Pro1167Ala) c.3040C>G (p.Pro1014Ala) c.2179C>G (p.Pro727Ala) n.3980C>G n.3984C>G | gnomAD v4 |
| 1 | g.1048173C>T | CA337853011 | AGRN | c.3913C>T (p.Pro1305Ser) c.3598C>T (p.Pro1200Ser) c.3499C>T (p.Pro1167Ser) c.3040C>T (p.Pro1014Ser) c.2179C>T (p.Pro727Ser) n.3980C>T n.3984C>T | gnomAD v4 |
| 1 | g.1048174C>A | CA337853013 | AGRN | c.3914C>A (p.Pro1305His) c.3599C>A (p.Pro1200His) c.3500C>A (p.Pro1167His) c.3041C>A (p.Pro1014His) c.2180C>A (p.Pro727His) n.3981C>A n.3985C>A | gnomAD v4 |
| 1 | g.1048174C>G | CA337853015 | AGRN | c.3914C>G (p.Pro1305Arg) c.3599C>G (p.Pro1200Arg) c.3500C>G (p.Pro1167Arg) c.3041C>G (p.Pro1014Arg) c.2180C>G (p.Pro727Arg) n.3981C>G n.3985C>G | |
| 1 | g.1048174C>T | CA337853017 | AGRN | c.3914C>T (p.Pro1305Leu) c.3599C>T (p.Pro1200Leu) c.3500C>T (p.Pro1167Leu) c.3041C>T (p.Pro1014Leu) c.2180C>T (p.Pro727Leu) n.3981C>T n.3985C>T | gnomAD v4 |
| 1 | g.1048175C>A | CA415758301 | AGRN | c.3915C>A (p.Pro1305=) c.3600C>A (p.Pro1200=) c.3501C>A (p.Pro1167=) c.3042C>A (p.Pro1014=) c.2181C>A (p.Pro727=) n.3982C>A n.3986C>A | gnomAD v4 |
| 1 | g.1048175C= | CA1148804214 | AGRN | c.3915C= (p.Pro1305=) c.3600C= (p.Pro1200=) c.3501C= (p.Pro1167=) c.3042C= (p.Pro1014=) c.2181C= (p.Pro727=) n.3982C= n.3986C= | |
| 1 | g.1048175C>G | CA415758302 | AGRN | c.3915C>G (p.Pro1305=) c.3600C>G (p.Pro1200=) c.3501C>G (p.Pro1167=) c.3042C>G (p.Pro1014=) c.2181C>G (p.Pro727=) n.3982C>G n.3986C>G | |
| 1 | g.1048175C>T | CA415758304 | AGRN | c.3915C>T (p.Pro1305=) c.3600C>T (p.Pro1200=) c.3501C>T (p.Pro1167=) c.3042C>T (p.Pro1014=) c.2181C>T (p.Pro727=) n.3982C>T n.3986C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048176A>C | CA337853026 | AGRN | c.3916A>C (p.Thr1306Pro) c.3601A>C (p.Thr1201Pro) c.3502A>C (p.Thr1168Pro) c.3043A>C (p.Thr1015Pro) c.2182A>C (p.Thr728Pro) n.3983A>C n.3987A>C | dbSNP gnomAD v4 |
| 1 | g.1048176A>G | CA337853024 | AGRN | c.3916A>G (p.Thr1306Ala) c.3601A>G (p.Thr1201Ala) c.3502A>G (p.Thr1168Ala) c.3043A>G (p.Thr1015Ala) c.2182A>G (p.Thr728Ala) n.3983A>G n.3987A>G | ClinVar gnomAD v4 |
| 1 | g.1048176A>T | CA337853019 | AGRN | c.3916A>T (p.Thr1306Ser) c.3601A>T (p.Thr1201Ser) c.3502A>T (p.Thr1168Ser) c.3043A>T (p.Thr1015Ser) c.2182A>T (p.Thr728Ser) n.3983A>T n.3987A>T | |
| 1 | g.1048177C>A | CA337853029 | AGRN | c.3917C>A (p.Thr1306Asn) c.3602C>A (p.Thr1201Asn) c.3503C>A (p.Thr1168Asn) c.3044C>A (p.Thr1015Asn) c.2183C>A (p.Thr728Asn) n.3984C>A n.3988C>A | gnomAD v4 |
| 1 | g.1048177C>G | CA337853027 | AGRN | c.3917C>G (p.Thr1306Ser) c.3602C>G (p.Thr1201Ser) c.3503C>G (p.Thr1168Ser) c.3044C>G (p.Thr1015Ser) c.2183C>G (p.Thr728Ser) n.3984C>G n.3988C>G | |
| 1 | g.1048177C>T | CA337853030 | AGRN | c.3917C>T (p.Thr1306Ile) c.3602C>T (p.Thr1201Ile) c.3503C>T (p.Thr1168Ile) c.3044C>T (p.Thr1015Ile) c.2183C>T (p.Thr728Ile) n.3984C>T n.3988C>T | gnomAD v4 |
| 1 | g.1048178C>A | CA415758309 | AGRN | c.3918C>A (p.Thr1306=) c.3603C>A (p.Thr1201=) c.3504C>A (p.Thr1168=) c.3045C>A (p.Thr1015=) c.2184C>A (p.Thr728=) n.3985C>A n.3989C>A | gnomAD v4 |
| 1 | g.1048178C>G | CA415758310 | AGRN | c.3918C>G (p.Thr1306=) c.3603C>G (p.Thr1201=) c.3504C>G (p.Thr1168=) c.3045C>G (p.Thr1015=) c.2184C>G (p.Thr728=) n.3985C>G n.3989C>G | |
| 1 | g.1048178C>T | CA415758311 | AGRN | c.3918C>T (p.Thr1306=) c.3603C>T (p.Thr1201=) c.3504C>T (p.Thr1168=) c.3045C>T (p.Thr1015=) c.2184C>T (p.Thr728=) n.3985C>T n.3989C>T | gnomAD v4 |
| 1 | g.1048179A>C | CA337853032 | AGRN | c.3919A>C (p.Thr1307Pro) c.3604A>C (p.Thr1202Pro) c.3505A>C (p.Thr1169Pro) c.3046A>C (p.Thr1016Pro) c.2185A>C (p.Thr729Pro) n.3986A>C n.3990A>C | dbSNP gnomAD v4 |
| 1 | g.1048179A>G | CA337853034 | AGRN | c.3919A>G (p.Thr1307Ala) c.3604A>G (p.Thr1202Ala) c.3505A>G (p.Thr1169Ala) c.3046A>G (p.Thr1016Ala) c.2185A>G (p.Thr729Ala) n.3986A>G n.3990A>G | gnomAD v4 |
| 1 | g.1048179A>T | CA337853033 | AGRN | c.3919A>T (p.Thr1307Ser) c.3604A>T (p.Thr1202Ser) c.3505A>T (p.Thr1169Ser) c.3046A>T (p.Thr1016Ser) c.2185A>T (p.Thr729Ser) n.3986A>T n.3990A>T | |
| 1 | g.1048180C>A | CA337853036 | AGRN | c.3920C>A (p.Thr1307Lys) c.3605C>A (p.Thr1202Lys) c.3506C>A (p.Thr1169Lys) c.3047C>A (p.Thr1016Lys) c.2186C>A (p.Thr729Lys) n.3987C>A n.3991C>A | |
| 1 | g.1048180C>G | CA337853037 | AGRN | c.3920C>G (p.Thr1307Arg) c.3605C>G (p.Thr1202Arg) c.3506C>G (p.Thr1169Arg) c.3047C>G (p.Thr1016Arg) c.2186C>G (p.Thr729Arg) n.3987C>G n.3991C>G | |
| 1 | g.1048180C>T | CA337853038 | AGRN | c.3920C>T (p.Thr1307Ile) c.3605C>T (p.Thr1202Ile) c.3506C>T (p.Thr1169Ile) c.3047C>T (p.Thr1016Ile) c.2186C>T (p.Thr729Ile) n.3987C>T n.3991C>T | gnomAD v4 |
| 1 | g.1048181A= | CA1148804225 | AGRN | c.3921A= (p.Thr1307=) c.3606A= (p.Thr1202=) c.3507A= (p.Thr1169=) c.3048A= (p.Thr1016=) c.2187A= (p.Thr729=) n.3988A= n.3992A= | |
| 1 | g.1048181A>C | CA415758316 | AGRN | c.3921A>C (p.Thr1307=) c.3606A>C (p.Thr1202=) c.3507A>C (p.Thr1169=) c.3048A>C (p.Thr1016=) c.2187A>C (p.Thr729=) n.3988A>C n.3992A>C | dbSNP |
| 1 | g.1048181A>G | CA16760261 | AGRN | c.3921A>G (p.Thr1307=) c.3606A>G (p.Thr1202=) c.3507A>G (p.Thr1169=) c.3048A>G (p.Thr1016=) c.2187A>G (p.Thr729=) n.3988A>G n.3992A>G | dbSNP |
| 1 | g.1048181A>T | CA415758318 | AGRN | c.3921A>T (p.Thr1307=) c.3606A>T (p.Thr1202=) c.3507A>T (p.Thr1169=) c.3048A>T (p.Thr1016=) c.2187A>T (p.Thr729=) n.3988A>T n.3992A>T | |
| 1 | g.1048193_1048231del | CA2642492201 | AGRN | c.3933_3971del (p.Thr1312_Pro1324del) c.3618_3656del (p.Thr1207_Pro1219del) c.3519_3557del (p.Thr1174_Pro1186del) c.3060_3098del (p.Thr1021_Pro1033del) c.2199_2237del (p.Thr734_Pro746del) n.4000_4038del n.4004_4042del | gnomAD v4 |
| 1 | g.1048182C>A | CA337853039 | AGRN | c.3922C>A (p.Arg1308Ser) c.3607C>A (p.Arg1203Ser) c.3508C>A (p.Arg1170Ser) c.3049C>A (p.Arg1017Ser) c.2188C>A (p.Arg730Ser) n.3989C>A n.3993C>A | gnomAD v4 |
| 1 | g.1048182C= | CA1143692747 | AGRN | c.3922C= (p.Arg1308=) c.3607C= (p.Arg1203=) c.3508C= (p.Arg1170=) c.3049C= (p.Arg1017=) c.2188C= (p.Arg730=) n.3989C= n.3993C= | |
| 1 | g.1048182C>G | CA337853040 | AGRN | c.3922C>G (p.Arg1308Gly) c.3607C>G (p.Arg1203Gly) c.3508C>G (p.Arg1170Gly) c.3049C>G (p.Arg1017Gly) c.2188C>G (p.Arg730Gly) n.3989C>G n.3993C>G | ClinVar COSMIC |
| 1 | g.1048182C>T | CA509274 | AGRN | c.3922C>T (p.Arg1308Cys) c.3607C>T (p.Arg1203Cys) c.3508C>T (p.Arg1170Cys) c.3049C>T (p.Arg1017Cys) c.2188C>T (p.Arg730Cys) n.3989C>T n.3993C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.1048183G>A | CA509275 | AGRN | c.3923G>A (p.Arg1308His) c.3608G>A (p.Arg1203His) c.3509G>A (p.Arg1170His) c.3050G>A (p.Arg1017His) c.2189G>A (p.Arg730His) n.3990G>A n.3994G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048183G>C | CA337853042 | AGRN | c.3923G>C (p.Arg1308Pro) c.3608G>C (p.Arg1203Pro) c.3509G>C (p.Arg1170Pro) c.3050G>C (p.Arg1017Pro) c.2189G>C (p.Arg730Pro) n.3990G>C n.3994G>C | |
| 1 | g.1048183G= | CA1148804326 | AGRN | c.3923G= (p.Arg1308=) c.3608G= (p.Arg1203=) c.3509G= (p.Arg1170=) c.3050G= (p.Arg1017=) c.2189G= (p.Arg730=) n.3990G= n.3994G= | |
| 1 | g.1048183G>T | CA509276 | AGRN | c.3923G>T (p.Arg1308Leu) c.3608G>T (p.Arg1203Leu) c.3509G>T (p.Arg1170Leu) c.3050G>T (p.Arg1017Leu) c.2189G>T (p.Arg730Leu) n.3990G>T n.3994G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048184T>A | CA415758322 | AGRN | c.3924T>A (p.Arg1308=) c.3609T>A (p.Arg1203=) c.3510T>A (p.Arg1170=) c.3051T>A (p.Arg1017=) c.2190T>A (p.Arg730=) n.3991T>A n.3995T>A | dbSNP |
| 1 | g.1048184T>C | CA415758323 | AGRN | c.3924T>C (p.Arg1308=) c.3609T>C (p.Arg1203=) c.3510T>C (p.Arg1170=) c.3051T>C (p.Arg1017=) c.2190T>C (p.Arg730=) n.3991T>C n.3995T>C | gnomAD v4 |
| 1 | g.1048184T>G | CA509277 | AGRN | c.3924T>G (p.Arg1308=) c.3609T>G (p.Arg1203=) c.3510T>G (p.Arg1170=) c.3051T>G (p.Arg1017=) c.2190T>G (p.Arg730=) n.3991T>G n.3995T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1048184T= | CA1148423735 | AGRN | c.3924T= (p.Arg1308=) c.3609T= (p.Arg1203=) c.3510T= (p.Arg1170=) c.3051T= (p.Arg1017=) c.2190T= (p.Arg730=) n.3991T= n.3995T= | |
| 1 | g.1048185C>A | CA415758327 | AGRN | c.3925C>A (p.Arg1309=) c.3610C>A (p.Arg1204=) c.3511C>A (p.Arg1171=) c.3052C>A (p.Arg1018=) c.2191C>A (p.Arg731=) n.3992C>A n.3996C>A | gnomAD v4 |
| 1 | g.1048185C= | CA1147082798 | AGRN | c.3925C= (p.Arg1309=) c.3610C= (p.Arg1204=) c.3511C= (p.Arg1171=) c.3052C= (p.Arg1018=) c.2191C= (p.Arg731=) n.3992C= n.3996C= | |
| 1 | g.1048185C>G | CA337853043 | AGRN | c.3925C>G (p.Arg1309Gly) c.3610C>G (p.Arg1204Gly) c.3511C>G (p.Arg1171Gly) c.3052C>G (p.Arg1018Gly) c.2191C>G (p.Arg731Gly) n.3992C>G n.3996C>G | |
| 1 | g.1048185C>T | CA509278 | AGRN | c.3925C>T (p.Arg1309Trp) c.3610C>T (p.Arg1204Trp) c.3511C>T (p.Arg1171Trp) c.3052C>T (p.Arg1018Trp) c.2191C>T (p.Arg731Trp) n.3992C>T n.3996C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048195_1048240del | CA2642492202 | AGRN | c.3935_3980del (p.Thr1312SerfsTer?) c.3620_3665del (p.Thr1207SerfsTer?) c.3521_3566del (p.Thr1174SerfsTer?) c.3062_3107del (p.Thr1021SerfsTer?) c.2201_2246del (p.Thr734SerfsTer?) n.4002_4047del n.4006_4051del | gnomAD v4 |
| 1 | g.1048186G>A | CA509279 | AGRN | c.3926G>A (p.Arg1309Gln) c.3611G>A (p.Arg1204Gln) c.3512G>A (p.Arg1171Gln) c.3053G>A (p.Arg1018Gln) c.2192G>A (p.Arg731Gln) n.3993G>A n.3997G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048186G>C | CA337853046 | AGRN | c.3926G>C (p.Arg1309Pro) c.3611G>C (p.Arg1204Pro) c.3512G>C (p.Arg1171Pro) c.3053G>C (p.Arg1018Pro) c.2192G>C (p.Arg731Pro) n.3993G>C n.3997G>C | |
| 1 | g.1048186G= | CA1143367294 | AGRN | c.3926G= (p.Arg1309=) c.3611G= (p.Arg1204=) c.3512G= (p.Arg1171=) c.3053G= (p.Arg1018=) c.2192G= (p.Arg731=) n.3993G= n.3997G= | |
| 1 | g.1048186G>T | CA337853045 | AGRN | c.3926G>T (p.Arg1309Leu) c.3611G>T (p.Arg1204Leu) c.3512G>T (p.Arg1171Leu) c.3053G>T (p.Arg1018Leu) c.2192G>T (p.Arg731Leu) n.3993G>T n.3997G>T | gnomAD v4 |
| 1 | g.1048187G>A | CA415758336 | AGRN | c.3927G>A (p.Arg1309=) c.3612G>A (p.Arg1204=) c.3513G>A (p.Arg1171=) c.3054G>A (p.Arg1018=) c.2193G>A (p.Arg731=) n.3994G>A n.3998G>A | gnomAD v4 |
| 1 | g.1048187G>C | CA415758338 | AGRN | c.3927G>C (p.Arg1309=) c.3612G>C (p.Arg1204=) c.3513G>C (p.Arg1171=) c.3054G>C (p.Arg1018=) c.2193G>C (p.Arg731=) n.3994G>C n.3998G>C | gnomAD v4 |
| 1 | g.1048187G>T | CA415758339 | AGRN | c.3927G>T (p.Arg1309=) c.3612G>T (p.Arg1204=) c.3513G>T (p.Arg1171=) c.3054G>T (p.Arg1018=) c.2193G>T (p.Arg731=) n.3994G>T n.3998G>T | gnomAD v4 |
| 1 | g.1048187_1048188delinsGC | CA1148804346 | AGRN | c.3927_3928delinsGC (p.Arg1309=) c.3612_3613delinsGC (p.Arg1204=) c.3513_3514delinsGC (p.Arg1171=) c.3054_3055delinsGC (p.Arg1018=) c.2193_2194delinsGC (p.Arg731=) n.3994_3995delinsGC n.3998_3999delinsGC | |
| 1 | g.1048188C>A | CA337853047 | AGRN | c.3928C>A (p.Pro1310Thr) c.3613C>A (p.Pro1205Thr) c.3514C>A (p.Pro1172Thr) c.3055C>A (p.Pro1019Thr) c.2194C>A (p.Pro732Thr) n.3995C>A n.3999C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048188C= | CA1148804356 | AGRN | c.3928C= (p.Pro1310=) c.3613C= (p.Pro1205=) c.3514C= (p.Pro1172=) c.3055C= (p.Pro1019=) c.2194C= (p.Pro732=) n.3995C= n.3999C= | |
| 1 | g.1048188C>G | CA337853049 | AGRN | c.3928C>G (p.Pro1310Ala) c.3613C>G (p.Pro1205Ala) c.3514C>G (p.Pro1172Ala) c.3055C>G (p.Pro1019Ala) c.2194C>G (p.Pro732Ala) n.3995C>G n.3999C>G | dbSNP |
| 1 | g.1048188C>T | CA509280 | AGRN | c.3928C>T (p.Pro1310Ser) c.3613C>T (p.Pro1205Ser) c.3514C>T (p.Pro1172Ser) c.3055C>T (p.Pro1019Ser) c.2194C>T (p.Pro732Ser) n.3995C>T n.3999C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1048193dup | CA997655002 | AGRN | c.3933dup (p.Thr1312HisfsTer23) c.3618dup (p.Thr1207HisfsTer23) c.3519dup (p.Thr1174HisfsTer23) c.3060dup (p.Thr1021HisfsTer23) c.2199dup (p.Thr734HisfsTer23) n.4000dup n.4004dup | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1048193del | CA520659075 | AGRN | c.3933del (p.Thr1312ProfsTer?) c.3618del (p.Thr1207ProfsTer?) c.3519del (p.Thr1174ProfsTer?) c.3060del (p.Thr1021ProfsTer?) c.2199del (p.Thr734ProfsTer?) n.4000del n.4004del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048189C>A | CA337853051 | AGRN | c.3929C>A (p.Pro1310His) c.3614C>A (p.Pro1205His) c.3515C>A (p.Pro1172His) c.3056C>A (p.Pro1019His) c.2195C>A (p.Pro732His) n.3996C>A n.4000C>A | gnomAD v4 |
| 1 | g.1048189C= | CA1148804365 | AGRN | c.3929C= (p.Pro1310=) c.3614C= (p.Pro1205=) c.3515C= (p.Pro1172=) c.3056C= (p.Pro1019=) c.2195C= (p.Pro732=) n.3996C= n.4000C= | |
| 1 | g.1048189C>G | CA337853052 | AGRN | c.3929C>G (p.Pro1310Arg) c.3614C>G (p.Pro1205Arg) c.3515C>G (p.Pro1172Arg) c.3056C>G (p.Pro1019Arg) c.2195C>G (p.Pro732Arg) n.3996C>G n.4000C>G | |
| 1 | g.1048189C>T | CA16760286 | AGRN | c.3929C>T (p.Pro1310Leu) c.3614C>T (p.Pro1205Leu) c.3515C>T (p.Pro1172Leu) c.3056C>T (p.Pro1019Leu) c.2195C>T (p.Pro732Leu) n.3996C>T n.4000C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048190C>A | CA415758345 | AGRN | c.3930C>A (p.Pro1310=) c.3615C>A (p.Pro1205=) c.3516C>A (p.Pro1172=) c.3057C>A (p.Pro1019=) c.2196C>A (p.Pro732=) n.3997C>A n.4001C>A | gnomAD v4 |
| 1 | g.1048190C= | CA1148804374 | AGRN | c.3930C= (p.Pro1310=) c.3615C= (p.Pro1205=) c.3516C= (p.Pro1172=) c.3057C= (p.Pro1019=) c.2196C= (p.Pro732=) n.3997C= n.4001C= | |
| 1 | g.1048190C>G | CA415758346 | AGRN | c.3930C>G (p.Pro1310=) c.3615C>G (p.Pro1205=) c.3516C>G (p.Pro1172=) c.3057C>G (p.Pro1019=) c.2196C>G (p.Pro732=) n.3997C>G n.4001C>G | |
| 1 | g.1048190C>T | CA415758347 | AGRN | c.3930C>T (p.Pro1310=) c.3615C>T (p.Pro1205=) c.3516C>T (p.Pro1172=) c.3057C>T (p.Pro1019=) c.2196C>T (p.Pro732=) n.3997C>T n.4001C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048191C>A | CA337853055 | AGRN | c.3931C>A (p.Pro1311Thr) c.3616C>A (p.Pro1206Thr) c.3517C>A (p.Pro1173Thr) c.3058C>A (p.Pro1020Thr) c.2197C>A (p.Pro733Thr) n.3998C>A n.4002C>A | gnomAD v4 |
| 1 | g.1048191C= | CA1148804381 | AGRN | c.3931C= (p.Pro1311=) c.3616C= (p.Pro1206=) c.3517C= (p.Pro1173=) c.3058C= (p.Pro1020=) c.2197C= (p.Pro733=) n.3998C= n.4002C= | |
| 1 | g.1048191C>G | CA337853061 | AGRN | c.3931C>G (p.Pro1311Ala) c.3616C>G (p.Pro1206Ala) c.3517C>G (p.Pro1173Ala) c.3058C>G (p.Pro1020Ala) c.2197C>G (p.Pro733Ala) n.3998C>G n.4002C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048191C>T | CA337853071 | AGRN | c.3931C>T (p.Pro1311Ser) c.3616C>T (p.Pro1206Ser) c.3517C>T (p.Pro1173Ser) c.3058C>T (p.Pro1020Ser) c.2197C>T (p.Pro733Ser) n.3998C>T n.4002C>T | gnomAD v4 |
| 1 | g.1048192C>A | CA337853075 | AGRN | c.3932C>A (p.Pro1311His) c.3617C>A (p.Pro1206His) c.3518C>A (p.Pro1173His) c.3059C>A (p.Pro1020His) c.2198C>A (p.Pro733His) n.3999C>A n.4003C>A | gnomAD v4 |
| 1 | g.1048192C= | CA1148804391 | AGRN | c.3932C= (p.Pro1311=) c.3617C= (p.Pro1206=) c.3518C= (p.Pro1173=) c.3059C= (p.Pro1020=) c.2198C= (p.Pro733=) n.3999C= n.4003C= | |
| 1 | g.1048192C>G | CA337853077 | AGRN | c.3932C>G (p.Pro1311Arg) c.3617C>G (p.Pro1206Arg) c.3518C>G (p.Pro1173Arg) c.3059C>G (p.Pro1020Arg) c.2198C>G (p.Pro733Arg) n.3999C>G n.4003C>G | dbSNP |
| 1 | g.1048192C>T | CA337853079 | AGRN | c.3932C>T (p.Pro1311Leu) c.3617C>T (p.Pro1206Leu) c.3518C>T (p.Pro1173Leu) c.3059C>T (p.Pro1020Leu) c.2198C>T (p.Pro733Leu) n.3999C>T n.4003C>T | gnomAD v4 |
| 1 | g.1048193C>A | CA415758353 | AGRN | c.3933C>A (p.Pro1311=) c.3618C>A (p.Pro1206=) c.3519C>A (p.Pro1173=) c.3060C>A (p.Pro1020=) c.2199C>A (p.Pro733=) n.4000C>A n.4004C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048193C= | CA1148804398 | AGRN | c.3933C= (p.Pro1311=) c.3618C= (p.Pro1206=) c.3519C= (p.Pro1173=) c.3060C= (p.Pro1020=) c.2199C= (p.Pro733=) n.4000C= n.4004C= | |
| 1 | g.1048193C>G | CA415758354 | AGRN | c.3933C>G (p.Pro1311=) c.3618C>G (p.Pro1206=) c.3519C>G (p.Pro1173=) c.3060C>G (p.Pro1020=) c.2199C>G (p.Pro733=) n.4000C>G n.4004C>G | gnomAD v4 |
| 1 | g.1048193C>T | CA415758356 | AGRN | c.3933C>T (p.Pro1311=) c.3618C>T (p.Pro1206=) c.3519C>T (p.Pro1173=) c.3060C>T (p.Pro1020=) c.2199C>T (p.Pro733=) n.4000C>T n.4004C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048194A>C | CA337853092 | AGRN | c.3934A>C (p.Thr1312Pro) c.3619A>C (p.Thr1207Pro) c.3520A>C (p.Thr1174Pro) c.3061A>C (p.Thr1021Pro) c.2200A>C (p.Thr734Pro) n.4001A>C n.4005A>C | dbSNP gnomAD v4 |
| 1 | g.1048194A>G | CA337853091 | AGRN | c.3934A>G (p.Thr1312Ala) c.3619A>G (p.Thr1207Ala) c.3520A>G (p.Thr1174Ala) c.3061A>G (p.Thr1021Ala) c.2200A>G (p.Thr734Ala) n.4001A>G n.4005A>G | |
| 1 | g.1048194A>T | CA337853090 | AGRN | c.3934A>T (p.Thr1312Ser) c.3619A>T (p.Thr1207Ser) c.3520A>T (p.Thr1174Ser) c.3061A>T (p.Thr1021Ser) c.2200A>T (p.Thr734Ser) n.4001A>T n.4005A>T | |
| 1 | g.1048196_1048221del | CA2642492203 | AGRN | c.3936_3961del (p.Thr1313SerfsTer13) c.3621_3646del (p.Thr1208SerfsTer13) c.3522_3547del (p.Thr1175SerfsTer13) c.3063_3088del (p.Thr1022SerfsTer13) c.2202_2227del (p.Thr735SerfsTer13) n.4003_4028del n.4007_4032del | gnomAD v4 |
| 1 | g.1048195C>A | CA509281 | AGRN | c.3935C>A (p.Thr1312Asn) c.3620C>A (p.Thr1207Asn) c.3521C>A (p.Thr1174Asn) c.3062C>A (p.Thr1021Asn) c.2201C>A (p.Thr734Asn) n.4002C>A n.4006C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048195C= | CA1148804401 | AGRN | c.3935C= (p.Thr1312=) c.3620C= (p.Thr1207=) c.3521C= (p.Thr1174=) c.3062C= (p.Thr1021=) c.2201C= (p.Thr734=) n.4002C= n.4006C= | |
| 1 | g.1048195C>G | CA337853094 | AGRN | c.3935C>G (p.Thr1312Ser) c.3620C>G (p.Thr1207Ser) c.3521C>G (p.Thr1174Ser) c.3062C>G (p.Thr1021Ser) c.2201C>G (p.Thr734Ser) n.4002C>G n.4006C>G | gnomAD v4 |
| 1 | g.1048195C>T | CA337853096 | AGRN | c.3935C>T (p.Thr1312Ile) c.3620C>T (p.Thr1207Ile) c.3521C>T (p.Thr1174Ile) c.3062C>T (p.Thr1021Ile) c.2201C>T (p.Thr734Ile) n.4002C>T n.4006C>T | gnomAD v4 |
| 1 | g.1048196C>A | CA415758360 | AGRN | c.3936C>A (p.Thr1312=) c.3621C>A (p.Thr1207=) c.3522C>A (p.Thr1174=) c.3063C>A (p.Thr1021=) c.2202C>A (p.Thr734=) n.4003C>A n.4007C>A | gnomAD v4 |
| 1 | g.1048196C= | CA1148804411 | AGRN | c.3936C= (p.Thr1312=) c.3621C= (p.Thr1207=) c.3522C= (p.Thr1174=) c.3063C= (p.Thr1021=) c.2202C= (p.Thr734=) n.4003C= n.4007C= | |
| 1 | g.1048196C>G | CA16760295 | AGRN | c.3936C>G (p.Thr1312=) c.3621C>G (p.Thr1207=) c.3522C>G (p.Thr1174=) c.3063C>G (p.Thr1021=) c.2202C>G (p.Thr734=) n.4003C>G n.4007C>G | ClinVar dbSNP |
| 1 | g.1048196C>T | CA509282 | AGRN | c.3936C>T (p.Thr1312=) c.3621C>T (p.Thr1207=) c.3522C>T (p.Thr1174=) c.3063C>T (p.Thr1021=) c.2202C>T (p.Thr734=) n.4003C>T n.4007C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048197A= | CA1148804426 | AGRN | c.3937A= (p.Thr1313=) c.3622A= (p.Thr1208=) c.3523A= (p.Thr1175=) c.3064A= (p.Thr1022=) c.2203A= (p.Thr735=) n.4004A= n.4008A= | |
| 1 | g.1048197A>C | CA337853098 | AGRN | c.3937A>C (p.Thr1313Pro) c.3622A>C (p.Thr1208Pro) c.3523A>C (p.Thr1175Pro) c.3064A>C (p.Thr1022Pro) c.2203A>C (p.Thr735Pro) n.4004A>C n.4008A>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.1048197A>G | CA337853101 | AGRN | c.3937A>G (p.Thr1313Ala) c.3622A>G (p.Thr1208Ala) c.3523A>G (p.Thr1175Ala) c.3064A>G (p.Thr1022Ala) c.2203A>G (p.Thr735Ala) n.4004A>G n.4008A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.1048197A>T | CA337853102 | AGRN | c.3937A>T (p.Thr1313Ser) c.3622A>T (p.Thr1208Ser) c.3523A>T (p.Thr1175Ser) c.3064A>T (p.Thr1022Ser) c.2203A>T (p.Thr735Ser) n.4004A>T n.4008A>T | |
| 1 | g.1048198C>A | CA337853104 | AGRN | c.3938C>A (p.Thr1313Asn) c.3623C>A (p.Thr1208Asn) c.3524C>A (p.Thr1175Asn) c.3065C>A (p.Thr1022Asn) c.2204C>A (p.Thr735Asn) n.4005C>A n.4009C>A | gnomAD v4 |
| 1 | g.1048198C= | CA1148804436 | AGRN | c.3938C= (p.Thr1313=) c.3623C= (p.Thr1208=) c.3524C= (p.Thr1175=) c.3065C= (p.Thr1022=) c.2204C= (p.Thr735=) n.4005C= n.4009C= | |
| 1 | g.1048198C>G | CA337853106 | AGRN | c.3938C>G (p.Thr1313Ser) c.3623C>G (p.Thr1208Ser) c.3524C>G (p.Thr1175Ser) c.3065C>G (p.Thr1022Ser) c.2204C>G (p.Thr735Ser) n.4005C>G n.4009C>G | |
| 1 | g.1048198C>T | CA337853108 | AGRN | c.3938C>T (p.Thr1313Ile) c.3623C>T (p.Thr1208Ile) c.3524C>T (p.Thr1175Ile) c.3065C>T (p.Thr1022Ile) c.2204C>T (p.Thr735Ile) n.4005C>T n.4009C>T | dbSNP gnomAD v4 |
| 1 | g.1048199T>A | CA415758371 | AGRN | c.3939T>A (p.Thr1313=) c.3624T>A (p.Thr1208=) c.3525T>A (p.Thr1175=) c.3066T>A (p.Thr1022=) c.2205T>A (p.Thr735=) n.4006T>A n.4010T>A | |
| 1 | g.1048199T>C | CA415758374 | AGRN | c.3939T>C (p.Thr1313=) c.3624T>C (p.Thr1208=) c.3525T>C (p.Thr1175=) c.3066T>C (p.Thr1022=) c.2205T>C (p.Thr735=) n.4006T>C n.4010T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048199T>G | CA415758375 | AGRN | c.3939T>G (p.Thr1313=) c.3624T>G (p.Thr1208=) c.3525T>G (p.Thr1175=) c.3066T>G (p.Thr1022=) c.2205T>G (p.Thr735=) n.4006T>G n.4010T>G | |
| 1 | g.1048199T= | CA1148804443 | AGRN | c.3939T= (p.Thr1313=) c.3624T= (p.Thr1208=) c.3525T= (p.Thr1175=) c.3066T= (p.Thr1022=) c.2205T= (p.Thr735=) n.4006T= n.4010T= | |
| 1 | g.1048200G>A | CA337853112 | AGRN | c.3940G>A (p.Ala1314Thr) c.3625G>A (p.Ala1209Thr) c.3526G>A (p.Ala1176Thr) c.3067G>A (p.Ala1023Thr) c.2206G>A (p.Ala736Thr) n.4007G>A n.4011G>A | gnomAD v4 |
| 1 | g.1048200G>C | CA337853114 | AGRN | c.3940G>C (p.Ala1314Pro) c.3625G>C (p.Ala1209Pro) c.3526G>C (p.Ala1176Pro) c.3067G>C (p.Ala1023Pro) c.2206G>C (p.Ala736Pro) n.4007G>C n.4011G>C | |
| 1 | g.1048200G>T | CA337853115 | AGRN | c.3940G>T (p.Ala1314Ser) c.3625G>T (p.Ala1209Ser) c.3526G>T (p.Ala1176Ser) c.3067G>T (p.Ala1023Ser) c.2206G>T (p.Ala736Ser) n.4007G>T n.4011G>T | gnomAD v4 |
| 1 | g.1048201C>A | CA16760302 | AGRN | c.3941C>A (p.Ala1314Asp) c.3626C>A (p.Ala1209Asp) c.3527C>A (p.Ala1176Asp) c.3068C>A (p.Ala1023Asp) c.2207C>A (p.Ala736Asp) n.4008C>A n.4012C>A | dbSNP gnomAD v4 |
| 1 | g.1048201C= | CA1148804449 | AGRN | c.3941C= (p.Ala1314=) c.3626C= (p.Ala1209=) c.3527C= (p.Ala1176=) c.3068C= (p.Ala1023=) c.2207C= (p.Ala736=) n.4008C= n.4012C= | |
| 1 | g.1048201C>G | CA337853116 | AGRN | c.3941C>G (p.Ala1314Gly) c.3626C>G (p.Ala1209Gly) c.3527C>G (p.Ala1176Gly) c.3068C>G (p.Ala1023Gly) c.2207C>G (p.Ala736Gly) n.4008C>G n.4012C>G | |
| 1 | g.1048201C>T | CA509283 | AGRN | c.3941C>T (p.Ala1314Val) c.3626C>T (p.Ala1209Val) c.3527C>T (p.Ala1176Val) c.3068C>T (p.Ala1023Val) c.2207C>T (p.Ala736Val) n.4008C>T n.4012C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1048205del | CA2574258714 | AGRN | c.3945del (p.Ser1316AlafsTer?) c.3630del (p.Ser1211AlafsTer?) c.3531del (p.Ser1178AlafsTer?) c.3072del (p.Ser1025AlafsTer?) c.2211del (p.Ser738AlafsTer?) n.4012del n.4016del | gnomAD v4 |
| 1 | g.1048202C>A | CA415758379 | AGRN | c.3942C>A (p.Ala1314=) c.3627C>A (p.Ala1209=) c.3528C>A (p.Ala1176=) c.3069C>A (p.Ala1023=) c.2208C>A (p.Ala736=) n.4009C>A n.4013C>A | gnomAD v4 |
| 1 | g.1048202C>G | CA415758380 | AGRN | c.3942C>G (p.Ala1314=) c.3627C>G (p.Ala1209=) c.3528C>G (p.Ala1176=) c.3069C>G (p.Ala1023=) c.2208C>G (p.Ala736=) n.4009C>G n.4013C>G | |
| 1 | g.1048202C>T | CA415758381 | AGRN | c.3942C>T (p.Ala1314=) c.3627C>T (p.Ala1209=) c.3528C>T (p.Ala1176=) c.3069C>T (p.Ala1023=) c.2208C>T (p.Ala736=) n.4009C>T n.4013C>T | gnomAD v4 |
| 1 | g.1048203C>A | CA337853119 | AGRN | c.3943C>A (p.Pro1315Thr) c.3628C>A (p.Pro1210Thr) c.3529C>A (p.Pro1177Thr) c.3070C>A (p.Pro1024Thr) c.2209C>A (p.Pro737Thr) n.4010C>A n.4014C>A | dbSNP gnomAD v4 |
| 1 | g.1048203C= | CA1146004071 | AGRN | c.3943C= (p.Pro1315=) c.3628C= (p.Pro1210=) c.3529C= (p.Pro1177=) c.3070C= (p.Pro1024=) c.2209C= (p.Pro737=) n.4010C= n.4014C= | |
| 1 | g.1048203C>G | CA337853120 | AGRN | c.3943C>G (p.Pro1315Ala) c.3628C>G (p.Pro1210Ala) c.3529C>G (p.Pro1177Ala) c.3070C>G (p.Pro1024Ala) c.2209C>G (p.Pro737Ala) n.4010C>G n.4014C>G | gnomAD v4 |
| 1 | g.1048203C>T | CA509284 | AGRN | c.3943C>T (p.Pro1315Ser) c.3628C>T (p.Pro1210Ser) c.3529C>T (p.Pro1177Ser) c.3070C>T (p.Pro1024Ser) c.2209C>T (p.Pro737Ser) n.4010C>T n.4014C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048204C>A | CA337853123 | AGRN | c.3944C>A (p.Pro1315His) c.3629C>A (p.Pro1210His) c.3530C>A (p.Pro1177His) c.3071C>A (p.Pro1024His) c.2210C>A (p.Pro737His) n.4011C>A n.4015C>A | gnomAD v4 |
| 1 | g.1048204C= | CA1148804465 | AGRN | c.3944C= (p.Pro1315=) c.3629C= (p.Pro1210=) c.3530C= (p.Pro1177=) c.3071C= (p.Pro1024=) c.2210C= (p.Pro737=) n.4011C= n.4015C= | |
| 1 | g.1048204C>G | CA509285 | AGRN | c.3944C>G (p.Pro1315Arg) c.3629C>G (p.Pro1210Arg) c.3530C>G (p.Pro1177Arg) c.3071C>G (p.Pro1024Arg) c.2210C>G (p.Pro737Arg) n.4011C>G n.4015C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1048204C>T | CA337853124 | AGRN | c.3944C>T (p.Pro1315Leu) c.3629C>T (p.Pro1210Leu) c.3530C>T (p.Pro1177Leu) c.3071C>T (p.Pro1024Leu) c.2210C>T (p.Pro737Leu) n.4011C>T n.4015C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048205C>A | CA509286 | AGRN | c.3945C>A (p.Pro1315=) c.3630C>A (p.Pro1210=) c.3531C>A (p.Pro1177=) c.3072C>A (p.Pro1024=) c.2211C>A (p.Pro737=) n.4012C>A n.4016C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048205C= | CA1147824242 | AGRN | c.3945C= (p.Pro1315=) c.3630C= (p.Pro1210=) c.3531C= (p.Pro1177=) c.3072C= (p.Pro1024=) c.2211C= (p.Pro737=) n.4012C= n.4016C= | |
| 1 | g.1048205C>G | CA415758385 | AGRN | c.3945C>G (p.Pro1315=) c.3630C>G (p.Pro1210=) c.3531C>G (p.Pro1177=) c.3072C>G (p.Pro1024=) c.2211C>G (p.Pro737=) n.4012C>G n.4016C>G | |
| 1 | g.1048205C>T | CA415758386 | AGRN | c.3945C>T (p.Pro1315=) c.3630C>T (p.Pro1210=) c.3531C>T (p.Pro1177=) c.3072C>T (p.Pro1024=) c.2211C>T (p.Pro737=) n.4012C>T n.4016C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048206A>C | CA337853126 | AGRN | c.3946A>C (p.Ser1316Arg) c.3631A>C (p.Ser1211Arg) c.3532A>C (p.Ser1178Arg) c.3073A>C (p.Ser1025Arg) c.2212A>C (p.Ser738Arg) n.4013A>C n.4017A>C | dbSNP |
| 1 | g.1048206A>G | CA337853128 | AGRN | c.3946A>G (p.Ser1316Gly) c.3631A>G (p.Ser1211Gly) c.3532A>G (p.Ser1178Gly) c.3073A>G (p.Ser1025Gly) c.2212A>G (p.Ser738Gly) n.4013A>G n.4017A>G | gnomAD v4 |
| 1 | g.1048206A>T | CA337853130 | AGRN | c.3946A>T (p.Ser1316Cys) c.3631A>T (p.Ser1211Cys) c.3532A>T (p.Ser1178Cys) c.3073A>T (p.Ser1025Cys) c.2212A>T (p.Ser738Cys) n.4013A>T n.4017A>T | gnomAD v4 |
| 1 | g.1048207G>A | CA16760303 | AGRN | c.3947G>A (p.Ser1316Asn) c.3632G>A (p.Ser1211Asn) c.3533G>A (p.Ser1178Asn) c.3074G>A (p.Ser1025Asn) c.2213G>A (p.Ser738Asn) n.4014G>A n.4018G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048207G>C | CA509287 | AGRN | c.3947G>C (p.Ser1316Thr) c.3632G>C (p.Ser1211Thr) c.3533G>C (p.Ser1178Thr) c.3074G>C (p.Ser1025Thr) c.2213G>C (p.Ser738Thr) n.4014G>C n.4018G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048207G= | CA1144910265 | AGRN | c.3947G= (p.Ser1316=) c.3632G= (p.Ser1211=) c.3533G= (p.Ser1178=) c.3074G= (p.Ser1025=) c.2213G= (p.Ser738=) n.4014G= n.4018G= | |
| 1 | g.1048207G>T | CA337853132 | AGRN | c.3947G>T (p.Ser1316Ile) c.3632G>T (p.Ser1211Ile) c.3533G>T (p.Ser1178Ile) c.3074G>T (p.Ser1025Ile) c.2213G>T (p.Ser738Ile) n.4014G>T n.4018G>T | gnomAD v4 |
| 1 | g.1048208C>A | CA337853134 | AGRN | c.3948C>A (p.Ser1316Arg) c.3633C>A (p.Ser1211Arg) c.3534C>A (p.Ser1178Arg) c.3075C>A (p.Ser1025Arg) c.2214C>A (p.Ser738Arg) n.4015C>A n.4019C>A | gnomAD v4 |
| 1 | g.1048208C= | CA1148804479 | AGRN | c.3948C= (p.Ser1316=) c.3633C= (p.Ser1211=) c.3534C= (p.Ser1178=) c.3075C= (p.Ser1025=) c.2214C= (p.Ser738=) n.4015C= n.4019C= | |
| 1 | g.1048208C>G | CA337853135 | AGRN | c.3948C>G (p.Ser1316Arg) c.3633C>G (p.Ser1211Arg) c.3534C>G (p.Ser1178Arg) c.3075C>G (p.Ser1025Arg) c.2214C>G (p.Ser738Arg) n.4015C>G n.4019C>G | |
| 1 | g.1048208C>T | CA415758388 | AGRN | c.3948C>T (p.Ser1316=) c.3633C>T (p.Ser1211=) c.3534C>T (p.Ser1178=) c.3075C>T (p.Ser1025=) c.2214C>T (p.Ser738=) n.4015C>T n.4019C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048209C>A | CA337853137 | AGRN | c.3949C>A (p.Arg1317Ser) c.3634C>A (p.Arg1212Ser) c.3535C>A (p.Arg1179Ser) c.3076C>A (p.Arg1026Ser) c.2215C>A (p.Arg739Ser) n.4016C>A n.4020C>A | gnomAD v4 |
| 1 | g.1048209C= | CA1148804507 | AGRN | c.3949C= (p.Arg1317=) c.3634C= (p.Arg1212=) c.3535C= (p.Arg1179=) c.3076C= (p.Arg1026=) c.2215C= (p.Arg739=) n.4016C= n.4020C= | |
| 1 | g.1048209C>G | CA337853139 | AGRN | c.3949C>G (p.Arg1317Gly) c.3634C>G (p.Arg1212Gly) c.3535C>G (p.Arg1179Gly) c.3076C>G (p.Arg1026Gly) c.2215C>G (p.Arg739Gly) n.4016C>G n.4020C>G | |
| 1 | g.1048209C>T | CA509288 | AGRN | c.3949C>T (p.Arg1317Cys) c.3634C>T (p.Arg1212Cys) c.3535C>T (p.Arg1179Cys) c.3076C>T (p.Arg1026Cys) c.2215C>T (p.Arg739Cys) n.4016C>T n.4020C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048210G>A | CA509289 | AGRN | c.3950G>A (p.Arg1317His) c.3635G>A (p.Arg1212His) c.3536G>A (p.Arg1179His) c.3077G>A (p.Arg1026His) c.2216G>A (p.Arg739His) n.4017G>A n.4021G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048210G>C | CA337853141 | AGRN | c.3950G>C (p.Arg1317Pro) c.3635G>C (p.Arg1212Pro) c.3536G>C (p.Arg1179Pro) c.3077G>C (p.Arg1026Pro) c.2216G>C (p.Arg739Pro) n.4017G>C n.4021G>C | |
| 1 | g.1048210G= | CA1144131475 | AGRN | c.3950G= (p.Arg1317=) c.3635G= (p.Arg1212=) c.3536G= (p.Arg1179=) c.3077G= (p.Arg1026=) c.2216G= (p.Arg739=) n.4017G= n.4021G= | |
| 1 | g.1048210G>T | CA337853143 | AGRN | c.3950G>T (p.Arg1317Leu) c.3635G>T (p.Arg1212Leu) c.3536G>T (p.Arg1179Leu) c.3077G>T (p.Arg1026Leu) c.2216G>T (p.Arg739Leu) n.4017G>T n.4021G>T | gnomAD v4 |
| 1 | g.1048211T>A | CA415758391 | AGRN | c.3951T>A (p.Arg1317=) c.3636T>A (p.Arg1212=) c.3537T>A (p.Arg1179=) c.3078T>A (p.Arg1026=) c.2217T>A (p.Arg739=) n.4018T>A n.4022T>A | |
| 1 | g.1048211T>C | CA415758392 | AGRN | c.3951T>C (p.Arg1317=) c.3636T>C (p.Arg1212=) c.3537T>C (p.Arg1179=) c.3078T>C (p.Arg1026=) c.2217T>C (p.Arg739=) n.4018T>C n.4022T>C | gnomAD v4 |
| 1 | g.1048211T>G | CA415758394 | AGRN | c.3951T>G (p.Arg1317=) c.3636T>G (p.Arg1212=) c.3537T>G (p.Arg1179=) c.3078T>G (p.Arg1026=) c.2217T>G (p.Arg739=) n.4018T>G n.4022T>G | |
| 1 | g.1048212G>A | CA16760306 | AGRN | c.3952G>A (p.Val1318Met) c.3637G>A (p.Val1213Met) c.3538G>A (p.Val1180Met) c.3079G>A (p.Val1027Met) c.2218G>A (p.Val740Met) n.4019G>A n.4023G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048212G>C | CA337853145 | AGRN | c.3952G>C (p.Val1318Leu) c.3637G>C (p.Val1213Leu) c.3538G>C (p.Val1180Leu) c.3079G>C (p.Val1027Leu) c.2218G>C (p.Val740Leu) n.4019G>C n.4023G>C | |
| 1 | g.1048212G= | CA1148804527 | AGRN | c.3952G= (p.Val1318=) c.3637G= (p.Val1213=) c.3538G= (p.Val1180=) c.3079G= (p.Val1027=) c.2218G= (p.Val740=) n.4019G= n.4023G= | |
| 1 | g.1048212G>T | CA337853147 | AGRN | c.3952G>T (p.Val1318Leu) c.3637G>T (p.Val1213Leu) c.3538G>T (p.Val1180Leu) c.3079G>T (p.Val1027Leu) c.2218G>T (p.Val740Leu) n.4019G>T n.4023G>T | |
| 1 | g.1048213T>A | CA337853149 | AGRN | c.3953T>A (p.Val1318Glu) c.3638T>A (p.Val1213Glu) c.3539T>A (p.Val1180Glu) c.3080T>A (p.Val1027Glu) c.2219T>A (p.Val740Glu) n.4020T>A n.4024T>A | |
| 1 | g.1048213T>C | CA337853150 | AGRN | c.3953T>C (p.Val1318Ala) c.3638T>C (p.Val1213Ala) c.3539T>C (p.Val1180Ala) c.3080T>C (p.Val1027Ala) c.2219T>C (p.Val740Ala) n.4020T>C n.4024T>C | |
| 1 | g.1048213T>G | CA337853151 | AGRN | c.3953T>G (p.Val1318Gly) c.3638T>G (p.Val1213Gly) c.3539T>G (p.Val1180Gly) c.3080T>G (p.Val1027Gly) c.2219T>G (p.Val740Gly) n.4020T>G n.4024T>G | |
| 1 | g.1048214G>A | CA415758399 | AGRN | c.3954G>A (p.Val1318=) c.3639G>A (p.Val1213=) c.3540G>A (p.Val1180=) c.3081G>A (p.Val1027=) c.2220G>A (p.Val740=) n.4021G>A n.4025G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1048214G>C | CA415758400 | AGRN | c.3954G>C (p.Val1318=) c.3639G>C (p.Val1213=) c.3540G>C (p.Val1180=) c.3081G>C (p.Val1027=) c.2220G>C (p.Val740=) n.4021G>C n.4025G>C | |
| 1 | g.1048214G= | CA1148804554 | AGRN | c.3954G= (p.Val1318=) c.3639G= (p.Val1213=) c.3540G= (p.Val1180=) c.3081G= (p.Val1027=) c.2220G= (p.Val740=) n.4021G= n.4025G= | |
| 1 | g.1048214G>T | CA415758402 | AGRN | c.3954G>T (p.Val1318=) c.3639G>T (p.Val1213=) c.3540G>T (p.Val1180=) c.3081G>T (p.Val1027=) c.2220G>T (p.Val740=) n.4021G>T n.4025G>T | gnomAD v4 |
| 1 | g.1048215C>A | CA337853153 | AGRN | c.3955C>A (p.Pro1319Thr) c.3640C>A (p.Pro1214Thr) c.3541C>A (p.Pro1181Thr) c.3082C>A (p.Pro1028Thr) c.2221C>A (p.Pro741Thr) n.4022C>A n.4026C>A | |
| 1 | g.1048215C>G | CA337853155 | AGRN | c.3955C>G (p.Pro1319Ala) c.3640C>G (p.Pro1214Ala) c.3541C>G (p.Pro1181Ala) c.3082C>G (p.Pro1028Ala) c.2221C>G (p.Pro741Ala) n.4022C>G n.4026C>G | |
| 1 | g.1048215C>T | CA337853157 | AGRN | c.3955C>T (p.Pro1319Ser) c.3640C>T (p.Pro1214Ser) c.3541C>T (p.Pro1181Ser) c.3082C>T (p.Pro1028Ser) c.2221C>T (p.Pro741Ser) n.4022C>T n.4026C>T | gnomAD v4 |
| 1 | g.1048216C>A | CA337853163 | AGRN | c.3956C>A (p.Pro1319His) c.3641C>A (p.Pro1214His) c.3542C>A (p.Pro1181His) c.3083C>A (p.Pro1028His) c.2222C>A (p.Pro741His) n.4023C>A n.4027C>A | gnomAD v4 |
| 1 | g.1048216C>G | CA337853162 | AGRN | c.3956C>G (p.Pro1319Arg) c.3641C>G (p.Pro1214Arg) c.3542C>G (p.Pro1181Arg) c.3083C>G (p.Pro1028Arg) c.2222C>G (p.Pro741Arg) n.4023C>G n.4027C>G | |
| 1 | g.1048216C>T | CA337853159 | AGRN | c.3956C>T (p.Pro1319Leu) c.3641C>T (p.Pro1214Leu) c.3542C>T (p.Pro1181Leu) c.3083C>T (p.Pro1028Leu) c.2222C>T (p.Pro741Leu) n.4023C>T n.4027C>T | |
| 1 | g.1048217C>A | CA415758405 | AGRN | c.3957C>A (p.Pro1319=) c.3642C>A (p.Pro1214=) c.3543C>A (p.Pro1181=) c.3084C>A (p.Pro1028=) c.2223C>A (p.Pro741=) n.4024C>A n.4028C>A | gnomAD v4 |
| 1 | g.1048217C= | CA1148804555 | AGRN | c.3957C= (p.Pro1319=) c.3642C= (p.Pro1214=) c.3543C= (p.Pro1181=) c.3084C= (p.Pro1028=) c.2223C= (p.Pro741=) n.4024C= n.4028C= | |
| 1 | g.1048217C>G | CA415758404 | AGRN | c.3957C>G (p.Pro1319=) c.3642C>G (p.Pro1214=) c.3543C>G (p.Pro1181=) c.3084C>G (p.Pro1028=) c.2223C>G (p.Pro741=) n.4024C>G n.4028C>G | |
| 1 | g.1048217C>T | CA415758403 | AGRN | c.3957C>T (p.Pro1319=) c.3642C>T (p.Pro1214=) c.3543C>T (p.Pro1181=) c.3084C>T (p.Pro1028=) c.2223C>T (p.Pro741=) n.4024C>T n.4028C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1048218G>A | CA509290 | AGRN | c.3958G>A (p.Gly1320Arg) c.3643G>A (p.Gly1215Arg) c.3544G>A (p.Gly1182Arg) c.3085G>A (p.Gly1029Arg) c.2224G>A (p.Gly742Arg) n.4025G>A n.4029G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.1048218G>C | CA337853166 | AGRN | c.3958G>C (p.Gly1320Arg) c.3643G>C (p.Gly1215Arg) c.3544G>C (p.Gly1182Arg) c.3085G>C (p.Gly1029Arg) c.2224G>C (p.Gly742Arg) n.4025G>C n.4029G>C | |
| 1 | g.1048218G= | CA1148804559 | AGRN | c.3958G= (p.Gly1320=) c.3643G= (p.Gly1215=) c.3544G= (p.Gly1182=) c.3085G= (p.Gly1029=) c.2224G= (p.Gly742=) n.4025G= n.4029G= | |
| 1 | g.1048218G>T | CA337853168 | AGRN | c.3958G>T (p.Gly1320Ter) c.3643G>T (p.Gly1215Ter) c.3544G>T (p.Gly1182Ter) c.3085G>T (p.Gly1029Ter) c.2224G>T (p.Gly742Ter) n.4025G>T n.4029G>T | gnomAD v4 |
| 1 | g.1048219G>A | CA337853169 | AGRN | c.3959G>A (p.Gly1320Glu) c.3644G>A (p.Gly1215Glu) c.3545G>A (p.Gly1182Glu) c.3086G>A (p.Gly1029Glu) c.2225G>A (p.Gly742Glu) n.4026G>A n.4030G>A | |
| 1 | g.1048219G>C | CA337853170 | AGRN | c.3959G>C (p.Gly1320Ala) c.3644G>C (p.Gly1215Ala) c.3545G>C (p.Gly1182Ala) c.3086G>C (p.Gly1029Ala) c.2225G>C (p.Gly742Ala) n.4026G>C n.4030G>C | |
| 1 | g.1048219G>T | CA337853171 | AGRN | c.3959G>T (p.Gly1320Val) c.3644G>T (p.Gly1215Val) c.3545G>T (p.Gly1182Val) c.3086G>T (p.Gly1029Val) c.2225G>T (p.Gly742Val) n.4026G>T n.4030G>T | |
| 1 | g.1048220A= | CA1148804628 | AGRN | c.3960A= (p.Gly1320=) c.3645A= (p.Gly1215=) c.3546A= (p.Gly1182=) c.3087A= (p.Gly1029=) c.2226A= (p.Gly742=) n.4027A= n.4031A= | |
| 1 | g.1048220A>C | CA415758407 | AGRN | c.3960A>C (p.Gly1320=) c.3645A>C (p.Gly1215=) c.3546A>C (p.Gly1182=) c.3087A>C (p.Gly1029=) c.2226A>C (p.Gly742=) n.4027A>C n.4031A>C | |
| 1 | g.1048220A>G | CA509291 | AGRN | c.3960A>G (p.Gly1320=) c.3645A>G (p.Gly1215=) c.3546A>G (p.Gly1182=) c.3087A>G (p.Gly1029=) c.2226A>G (p.Gly742=) n.4027A>G n.4031A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1048220A>T | CA415758408 | AGRN | c.3960A>T (p.Gly1320=) c.3645A>T (p.Gly1215=) c.3546A>T (p.Gly1182=) c.3087A>T (p.Gly1029=) c.2226A>T (p.Gly742=) n.4027A>T n.4031A>T | |
| 1 | g.1048221C>A | CA337853172 | AGRN | c.3961C>A (p.Arg1321Ser) c.3646C>A (p.Arg1216Ser) c.3547C>A (p.Arg1183Ser) c.3088C>A (p.Arg1030Ser) c.2227C>A (p.Arg743Ser) n.4028C>A n.4032C>A | gnomAD v4 |
| 1 | g.1048221C= | CA1148804635 | AGRN | c.3961C= (p.Arg1321=) c.3646C= (p.Arg1216=) c.3547C= (p.Arg1183=) c.3088C= (p.Arg1030=) c.2227C= (p.Arg743=) n.4028C= n.4032C= | |
| 1 | g.1048221C>G | CA337853173 | AGRN | c.3961C>G (p.Arg1321Gly) c.3646C>G (p.Arg1216Gly) c.3547C>G (p.Arg1183Gly) c.3088C>G (p.Arg1030Gly) c.2227C>G (p.Arg743Gly) n.4028C>G n.4032C>G | |
| 1 | g.1048221C>T | CA337853174 | AGRN | c.3961C>T (p.Arg1321Cys) c.3646C>T (p.Arg1216Cys) c.3547C>T (p.Arg1183Cys) c.3088C>T (p.Arg1030Cys) c.2227C>T (p.Arg743Cys) n.4028C>T n.4032C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048223_1048225del | CA2574258715 | AGRN | c.3963_3965del (p.Arg1322del) c.3648_3650del (p.Arg1217del) c.3549_3551del (p.Arg1184del) c.3090_3092del (p.Arg1031del) c.2229_2231del (p.Arg744del) n.4030_4032del n.4034_4036del | |
| 1 | g.1048222G>A | CA509292 | AGRN | c.3962G>A (p.Arg1321His) c.3647G>A (p.Arg1216His) c.3548G>A (p.Arg1183His) c.3089G>A (p.Arg1030His) c.2228G>A (p.Arg743His) n.4029G>A n.4033G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048222G>C | CA337853175 | AGRN | c.3962G>C (p.Arg1321Pro) c.3647G>C (p.Arg1216Pro) c.3548G>C (p.Arg1183Pro) c.3089G>C (p.Arg1030Pro) c.2228G>C (p.Arg743Pro) n.4029G>C n.4033G>C | gnomAD v4 |
| 1 | g.1048222G= | CA1148804641 | AGRN | c.3962G= (p.Arg1321=) c.3647G= (p.Arg1216=) c.3548G= (p.Arg1183=) c.3089G= (p.Arg1030=) c.2228G= (p.Arg743=) n.4029G= n.4033G= | |
| 1 | g.1048222G>T | CA337853176 | AGRN | c.3962G>T (p.Arg1321Leu) c.3647G>T (p.Arg1216Leu) c.3548G>T (p.Arg1183Leu) c.3089G>T (p.Arg1030Leu) c.2228G>T (p.Arg743Leu) n.4029G>T n.4033G>T | gnomAD v4 |
| 1 | g.1048223T>A | CA415758412 | AGRN | c.3963T>A (p.Arg1321=) c.3648T>A (p.Arg1216=) c.3549T>A (p.Arg1183=) c.3090T>A (p.Arg1030=) c.2229T>A (p.Arg743=) n.4030T>A n.4034T>A | |
| 1 | g.1048223T>C | CA415758414 | AGRN | c.3963T>C (p.Arg1321=) c.3648T>C (p.Arg1216=) c.3549T>C (p.Arg1183=) c.3090T>C (p.Arg1030=) c.2229T>C (p.Arg743=) n.4030T>C n.4034T>C | |
| 1 | g.1048223T>G | CA415758413 | AGRN | c.3963T>G (p.Arg1321=) c.3648T>G (p.Arg1216=) c.3549T>G (p.Arg1183=) c.3090T>G (p.Arg1030=) c.2229T>G (p.Arg743=) n.4030T>G n.4034T>G | |
| 1 | g.1048224C>A | CA415758416 | AGRN | c.3964C>A (p.Arg1322=) c.3649C>A (p.Arg1217=) c.3550C>A (p.Arg1184=) c.3091C>A (p.Arg1031=) c.2230C>A (p.Arg744=) n.4031C>A n.4035C>A | gnomAD v4 |
| 1 | g.1048224C= | CA1142738275 | AGRN | c.3964C= (p.Arg1322=) c.3649C= (p.Arg1217=) c.3550C= (p.Arg1184=) c.3091C= (p.Arg1031=) c.2230C= (p.Arg744=) n.4031C= n.4035C= | |
| 1 | g.1048224C>G | CA337853177 | AGRN | c.3964C>G (p.Arg1322Gly) c.3649C>G (p.Arg1217Gly) c.3550C>G (p.Arg1184Gly) c.3091C>G (p.Arg1031Gly) c.2230C>G (p.Arg744Gly) n.4031C>G n.4035C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1048224C>T | CA151648 | AGRN | c.3964C>T (p.Arg1322Trp) c.3649C>T (p.Arg1217Trp) c.3550C>T (p.Arg1184Trp) c.3091C>T (p.Arg1031Trp) c.2230C>T (p.Arg744Trp) n.4031C>T n.4035C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048225G>A | CA337853178 | AGRN | c.3965G>A (p.Arg1322Gln) c.3650G>A (p.Arg1217Gln) c.3551G>A (p.Arg1184Gln) c.3092G>A (p.Arg1031Gln) c.2231G>A (p.Arg744Gln) n.4032G>A n.4036G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1048225G>C | CA337853179 | AGRN | c.3965G>C (p.Arg1322Pro) c.3650G>C (p.Arg1217Pro) c.3551G>C (p.Arg1184Pro) c.3092G>C (p.Arg1031Pro) c.2231G>C (p.Arg744Pro) n.4032G>C n.4036G>C | |
| 1 | g.1048225G= | CA1148804671 | AGRN | c.3965G= (p.Arg1322=) c.3650G= (p.Arg1217=) c.3551G= (p.Arg1184=) c.3092G= (p.Arg1031=) c.2231G= (p.Arg744=) n.4032G= n.4036G= | |
| 1 | g.1048225G>T | CA337853180 | AGRN | c.3965G>T (p.Arg1322Leu) c.3650G>T (p.Arg1217Leu) c.3551G>T (p.Arg1184Leu) c.3092G>T (p.Arg1031Leu) c.2231G>T (p.Arg744Leu) n.4032G>T n.4036G>T | gnomAD v4 |
| 1 | g.1048226G>A | CA415758419 | AGRN | c.3966G>A (p.Arg1322=) c.3651G>A (p.Arg1217=) c.3552G>A (p.Arg1184=) c.3093G>A (p.Arg1031=) c.2232G>A (p.Arg744=) n.4033G>A n.4037G>A | gnomAD v4 |
| 1 | g.1048226G>C | CA415758420 | AGRN | c.3966G>C (p.Arg1322=) c.3651G>C (p.Arg1217=) c.3552G>C (p.Arg1184=) c.3093G>C (p.Arg1031=) c.2232G>C (p.Arg744=) n.4033G>C n.4037G>C | |
| 1 | g.1048226G= | CA1148804908 | AGRN | c.3966G= (p.Arg1322=) c.3651G= (p.Arg1217=) c.3552G= (p.Arg1184=) c.3093G= (p.Arg1031=) c.2232G= (p.Arg744=) n.4033G= n.4037G= | |
| 1 | g.1048226G>T | CA415758421 | AGRN | c.3966G>T (p.Arg1322=) c.3651G>T (p.Arg1217=) c.3552G>T (p.Arg1184=) c.3093G>T (p.Arg1031=) c.2232G>T (p.Arg744=) n.4033G>T n.4037G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1048226_1048227delinsGC | CA1148804903 | AGRN | c.3966_3967delinsGC (p.Arg1322=) c.3651_3652delinsGC (p.Arg1217=) c.3552_3553delinsGC (p.Arg1184=) c.3093_3094delinsGC (p.Arg1031=) c.2232_2233delinsGC (p.Arg744=) n.4033_4034delinsGC n.4037_4038delinsGC |