Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.138947214T>ACA361136517SIL1c.1289A>T (p.Gln430Leu)
c.1310A>T (p.Gln437Leu)
n.624A>T
c.1319A>T (p.Gln440Leu)
5g.138947214T>CCA361136518SIL1c.1289A>G (p.Gln430Arg)
c.1310A>G (p.Gln437Arg)
n.624A>G
c.1319A>G (p.Gln440Arg)
5g.138947214T>GCA361136519SIL1c.1289A>C (p.Gln430Pro)
c.1310A>C (p.Gln437Pro)
n.624A>C
c.1319A>C (p.Gln440Pro)
5g.138947215G>ACA361136522SIL1c.1288C>T (p.Gln430Ter)
c.1309C>T (p.Gln437Ter)
n.623C>T
c.1318C>T (p.Gln440Ter)
 dbSNP gnomAD v3 gnomAD v4
5g.138947215G>CCA361136521SIL1c.1288C>G (p.Gln430Glu)
c.1309C>G (p.Gln437Glu)
n.623C>G
c.1318C>G (p.Gln440Glu)
5g.138947215G=CA1586100223SIL1c.1288C= (p.Gln430=)
c.1309C= (p.Gln437=)
n.623C=
c.1318C= (p.Gln440=)
5g.138947215G>TCA361136520SIL1c.1288C>A (p.Gln430Lys)
c.1309C>A (p.Gln437Lys)
n.623C>A
c.1318C>A (p.Gln440Lys)
5g.138947216G>ACA128236275SIL1c.1287C>T (p.Tyr429=)
c.1308C>T (p.Tyr436=)
n.622C>T
c.1317C>T (p.Tyr439=)
 dbSNP gnomAD v3 gnomAD v4
5g.138947216G>CCA361136523SIL1c.1287C>G (p.Tyr429Ter)
c.1308C>G (p.Tyr436Ter)
n.622C>G
c.1317C>G (p.Tyr439Ter)
5g.138947216G=CA1586100224SIL1c.1287C= (p.Tyr429=)
c.1308C= (p.Tyr436=)
n.622C=
c.1317C= (p.Tyr439=)
5g.138947216G>TCA361136524SIL1c.1287C>A (p.Tyr429Ter)
c.1308C>A (p.Tyr436Ter)
n.622C>A
c.1317C>A (p.Tyr439Ter)
5g.138947217T>ACA128236276SIL1c.1286A>T (p.Tyr429Phe)
c.1307A>T (p.Tyr436Phe)
n.621A>T
c.1316A>T (p.Tyr439Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.138947217T>CCA361136525SIL1c.1286A>G (p.Tyr429Cys)
c.1307A>G (p.Tyr436Cys)
n.621A>G
c.1316A>G (p.Tyr439Cys)
5g.138947217T>GCA361136526SIL1c.1286A>C (p.Tyr429Ser)
c.1307A>C (p.Tyr436Ser)
n.621A>C
c.1316A>C (p.Tyr439Ser)
5g.138947217T=CA1586100225SIL1c.1286A= (p.Tyr429=)
c.1307A= (p.Tyr436=)
n.621A=
c.1316A= (p.Tyr439=)
5g.138947218A>CCA361136527SIL1c.1285T>G (p.Tyr429Asp)
c.1306T>G (p.Tyr436Asp)
n.620T>G
c.1315T>G (p.Tyr439Asp)
5g.138947218A>GCA361136528SIL1c.1285T>C (p.Tyr429His)
c.1306T>C (p.Tyr436His)
n.620T>C
c.1315T>C (p.Tyr439His)
 gnomAD v4
5g.138947218A>TCA361136529SIL1c.1285T>A (p.Tyr429Asn)
c.1306T>A (p.Tyr436Asn)
n.620T>A
c.1315T>A (p.Tyr439Asn)
5g.138947219C>ACA361136530SIL1c.1284G>T (p.Glu428Asp)
c.1305G>T (p.Glu435Asp)
n.619G>T
c.1314G>T (p.Glu438Asp)
5g.138947219C>GCA361136531SIL1c.1284G>C (p.Glu428Asp)
c.1305G>C (p.Glu435Asp)
n.619G>C
c.1314G>C (p.Glu438Asp)
5g.138947219C>TCA446793266SIL1c.1284G>A (p.Glu428=)
c.1305G>A (p.Glu435=)
n.619G>A
c.1314G>A (p.Glu438=)
5g.138947220T>ACA361136532SIL1c.1283A>T (p.Glu428Val)
c.1304A>T (p.Glu435Val)
n.618A>T
c.1313A>T (p.Glu438Val)
5g.138947220T>CCA361136533SIL1c.1283A>G (p.Glu428Gly)
c.1304A>G (p.Glu435Gly)
n.618A>G
c.1313A>G (p.Glu438Gly)
5g.138947220T>GCA361136534SIL1c.1283A>C (p.Glu428Ala)
c.1304A>C (p.Glu435Ala)
n.618A>C
c.1313A>C (p.Glu438Ala)
5g.138947221C>ACA361136536SIL1c.1282G>T (p.Glu428Ter)
c.1303G>T (p.Glu435Ter)
n.617G>T
c.1312G>T (p.Glu438Ter)
5g.138947221C=CA1586100226SIL1c.1282G= (p.Glu428=)
c.1303G= (p.Glu435=)
n.617G=
c.1312G= (p.Glu438=)
5g.138947221C>GCA3432330SIL1c.1282G>C (p.Glu428Gln)
c.1303G>C (p.Glu435Gln)
n.617G>C
c.1312G>C (p.Glu438Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.138947221C>TCA361136535SIL1c.1282G>A (p.Glu428Lys)
c.1303G>A (p.Glu435Lys)
n.617G>A
c.1312G>A (p.Glu438Lys)
5g.138947224_138947230delCA2695205311SIL1c.1276_1282del (p.Gln426SerfsTer30)
c.1297_1303del (p.Gln433SerfsTer30)
n.611_617del
c.1306_1312del (p.Gln436SerfsTer30)
5g.138947222A=CA1586100227SIL1c.1281T= (p.Ala427=)
c.1302T= (p.Ala434=)
n.616T=
c.1311T= (p.Ala437=)
5g.138947222A>CCA446793267SIL1c.1281T>G (p.Ala427=)
c.1302T>G (p.Ala434=)
n.616T>G
c.1311T>G (p.Ala437=)
5g.138947222A>GCA446793269SIL1c.1281T>C (p.Ala427=)
c.1302T>C (p.Ala434=)
n.616T>C
c.1311T>C (p.Ala437=)
 dbSNP gnomAD v2 gnomAD v4
5g.138947222A>TCA446793268SIL1c.1281T>A (p.Ala427=)
c.1302T>A (p.Ala434=)
n.616T>A
c.1311T>A (p.Ala437=)
5g.138947223G>ACA361136537SIL1c.1280C>T (p.Ala427Val)
c.1301C>T (p.Ala434Val)
n.615C>T
c.1310C>T (p.Ala437Val)
5g.138947223G>CCA361136538SIL1c.1280C>G (p.Ala427Gly)
c.1301C>G (p.Ala434Gly)
n.615C>G
c.1310C>G (p.Ala437Gly)
5g.138947223G>TCA361136539SIL1c.1280C>A (p.Ala427Asp)
c.1301C>A (p.Ala434Asp)
n.615C>A
c.1310C>A (p.Ala437Asp)
5g.138947225_138947228delCA2675501690SIL1c.1277_1280del (p.Gln426LeufsTer?)
c.1298_1301del (p.Gln433LeufsTer?)
n.612_615del
c.1307_1310del (p.Gln436LeufsTer?)
 gnomAD v4
5g.138947224C>ACA361136540SIL1c.1279G>T (p.Ala427Ser)
c.1300G>T (p.Ala434Ser)
n.614G>T
c.1309G>T (p.Ala437Ser)
 ClinVar dbSNP gnomAD v4
5g.138947224C=CA1586100228SIL1c.1279G= (p.Ala427=)
c.1300G= (p.Ala434=)
n.614G=
c.1309G= (p.Ala437=)
5g.138947224C>GCA361136541SIL1c.1279G>C (p.Ala427Pro)
c.1300G>C (p.Ala434Pro)
n.614G>C
c.1309G>C (p.Ala437Pro)
5g.138947224C>TCA3432331SIL1c.1279G>A (p.Ala427Thr)
c.1300G>A (p.Ala434Thr)
n.614G>A
c.1309G>A (p.Ala437Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.138947224_138947243delinsGTGCA2695205312SIL1c.1260_1279delinsCAC (p.Arg420SerfsTer3)
c.1281_1300delinsCAC (p.Arg427SerfsTer3)
n.595_614delinsCAC
c.1290_1309delinsCAC (p.Arg430SerfsTer3)
5g.138947225C>ACA361136542SIL1c.1278G>T (p.Gln426His)
c.1299G>T (p.Gln433His)
n.613G>T
c.1308G>T (p.Gln436His)
5g.138947225C=CA1586100229SIL1c.1278G= (p.Gln426=)
c.1299G= (p.Gln433=)
n.613G=
c.1308G= (p.Gln436=)
5g.138947225C>GCA3432332SIL1c.1278G>C (p.Gln426His)
c.1299G>C (p.Gln433His)
n.613G>C
c.1308G>C (p.Gln436His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.138947225C>TCA446793270SIL1c.1278G>A (p.Gln426=)
c.1299G>A (p.Gln433=)
n.613G>A
c.1308G>A (p.Gln436=)
5g.138947226T>ACA361136543SIL1c.1277A>T (p.Gln426Leu)
c.1298A>T (p.Gln433Leu)
n.612A>T
c.1307A>T (p.Gln436Leu)
5g.138947226T>CCA361136544SIL1c.1277A>G (p.Gln426Arg)
c.1298A>G (p.Gln433Arg)
n.612A>G
c.1307A>G (p.Gln436Arg)
5g.138947226T>GCA361136545SIL1c.1277A>C (p.Gln426Pro)
c.1298A>C (p.Gln433Pro)
n.612A>C
c.1307A>C (p.Gln436Pro)
5g.138947227G>ACA361136547SIL1c.1276C>T (p.Gln426Ter)
c.1297C>T (p.Gln433Ter)
n.611C>T
c.1306C>T (p.Gln436Ter)
5g.138947227G>CCA361136548SIL1c.1276C>G (p.Gln426Glu)
c.1297C>G (p.Gln433Glu)
n.611C>G
c.1306C>G (p.Gln436Glu)
5g.138947227G>TCA361136546SIL1c.1276C>A (p.Gln426Lys)
c.1297C>A (p.Gln433Lys)
n.611C>A
c.1306C>A (p.Gln436Lys)
5g.138947228C>ACA446793271SIL1c.1275G>T (p.Leu425=)
c.1296G>T (p.Leu432=)
n.610G>T
c.1305G>T (p.Leu435=)
 gnomAD v4
5g.138947228C=CA1586100230SIL1c.1275G= (p.Leu425=)
c.1296G= (p.Leu432=)
n.610G=
c.1305G= (p.Leu435=)
5g.138947228C>GCA446793272SIL1c.1275G>C (p.Leu425=)
c.1296G>C (p.Leu432=)
n.610G>C
c.1305G>C (p.Leu435=)
5g.138947228C>TCA446793273SIL1c.1275G>A (p.Leu425=)
c.1296G>A (p.Leu432=)
n.610G>A
c.1305G>A (p.Leu435=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.138947229A=CA1586100231SIL1c.1274T= (p.Leu425=)
c.1295T= (p.Leu432=)
n.609T=
c.1304T= (p.Leu435=)
5g.138947229A>CCA361136549SIL1c.1274T>G (p.Leu425Arg)
c.1295T>G (p.Leu432Arg)
n.609T>G
c.1304T>G (p.Leu435Arg)
5g.138947229A>GCA361136550SIL1c.1274T>C (p.Leu425Pro)
c.1295T>C (p.Leu432Pro)
n.609T>C
c.1304T>C (p.Leu435Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.138947229A>TCA361136551SIL1c.1274T>A (p.Leu425Gln)
c.1295T>A (p.Leu432Gln)
n.609T>A
c.1304T>A (p.Leu435Gln)
5g.138947230G>ACA3432333SIL1c.1273C>T (p.Leu425=)
c.1294C>T (p.Leu432=)
n.608C>T
c.1303C>T (p.Leu435=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.138947230G>CCA361136552SIL1c.1273C>G (p.Leu425Val)
c.1294C>G (p.Leu432Val)
n.608C>G
c.1303C>G (p.Leu435Val)
5g.138947230G=CA1586100232SIL1c.1273C= (p.Leu425=)
c.1294C= (p.Leu432=)
n.608C=
c.1303C= (p.Leu435=)
5g.138947230G>TCA361136553SIL1c.1273C>A (p.Leu425Met)
c.1294C>A (p.Leu432Met)
n.608C>A
c.1303C>A (p.Leu435Met)
5g.138947230_138947242delCA2675501701SIL1c.1261_1273del (p.Thr421CysfsTer?)
c.1282_1294del (p.Thr428CysfsTer?)
n.596_608del
c.1291_1303del (p.Thr431CysfsTer?)
 gnomAD v4
5g.138947231G>ACA446793274SIL1c.1272C>T (p.Ser424=)
c.1293C>T (p.Ser431=)
n.607C>T
c.1302C>T (p.Ser434=)
 gnomAD v4
5g.138947231G>CCA361136554SIL1c.1272C>G (p.Ser424Arg)
c.1293C>G (p.Ser431Arg)
n.607C>G
c.1302C>G (p.Ser434Arg)
5g.138947231G>TCA361136555SIL1c.1272C>A (p.Ser424Arg)
c.1293C>A (p.Ser431Arg)
n.607C>A
c.1302C>A (p.Ser434Arg)
5g.138947232C>ACA361136556SIL1c.1271G>T (p.Ser424Ile)
c.1292G>T (p.Ser431Ile)
n.606G>T
c.1301G>T (p.Ser434Ile)
5g.138947232C>GCA361136557SIL1c.1271G>C (p.Ser424Thr)
c.1292G>C (p.Ser431Thr)
n.606G>C
c.1301G>C (p.Ser434Thr)
5g.138947232C>TCA361136558SIL1c.1271G>A (p.Ser424Asn)
c.1292G>A (p.Ser431Asn)
n.606G>A
c.1301G>A (p.Ser434Asn)
5g.138947233T>ACA128236287SIL1c.1270A>T (p.Ser424Cys)
c.1291A>T (p.Ser431Cys)
n.605A>T
c.1300A>T (p.Ser434Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.138947233T>CCA361136559SIL1c.1270A>G (p.Ser424Gly)
c.1291A>G (p.Ser431Gly)
n.605A>G
c.1300A>G (p.Ser434Gly)
5g.138947233T>GCA361136560SIL1c.1270A>C (p.Ser424Arg)
c.1291A>C (p.Ser431Arg)
n.605A>C
c.1300A>C (p.Ser434Arg)
5g.138947233T=CA1586100233SIL1c.1270A= (p.Ser424=)
c.1291A= (p.Ser431=)
n.605A=
c.1300A= (p.Ser434=)
5g.138947234G>ACA3432334SIL1c.1269C>T (p.Ala423=)
c.1290C>T (p.Ala430=)
n.604C>T
c.1299C>T (p.Ala433=)
 ClinVar dbSNP ExAC gnomAD v2
5g.138947234G>CCA446793275SIL1c.1269C>G (p.Ala423=)
c.1290C>G (p.Ala430=)
n.604C>G
c.1299C>G (p.Ala433=)
5g.138947234G=CA1586100234SIL1c.1269C= (p.Ala423=)
c.1290C= (p.Ala430=)
n.604C=
c.1299C= (p.Ala433=)
5g.138947234G>TCA446793276SIL1c.1269C>A (p.Ala423=)
c.1290C>A (p.Ala430=)
n.604C>A
c.1299C>A (p.Ala433=)
5g.138947235G>ACA361136561SIL1c.1268C>T (p.Ala423Val)
c.1289C>T (p.Ala430Val)
n.603C>T
c.1298C>T (p.Ala433Val)
5g.138947235G>CCA361136562SIL1c.1268C>G (p.Ala423Gly)
c.1289C>G (p.Ala430Gly)
n.603C>G
c.1298C>G (p.Ala433Gly)
5g.138947235G>TCA361136563SIL1c.1268C>A (p.Ala423Asp)
c.1289C>A (p.Ala430Asp)
n.603C>A
c.1298C>A (p.Ala433Asp)
5g.138947236C>ACA361136564SIL1c.1267G>T (p.Ala423Ser)
c.1288G>T (p.Ala430Ser)
n.602G>T
c.1297G>T (p.Ala433Ser)
5g.138947236C>GCA361136565SIL1c.1267G>C (p.Ala423Pro)
c.1288G>C (p.Ala430Pro)
n.602G>C
c.1297G>C (p.Ala433Pro)
5g.138947236C>TCA361136566SIL1c.1267G>A (p.Ala423Thr)
c.1288G>A (p.Ala430Thr)
n.602G>A
c.1297G>A (p.Ala433Thr)
5g.138947237C>ACA446793277SIL1c.1266G>T (p.Leu422=)
c.1287G>T (p.Leu429=)
n.601G>T
c.1296G>T (p.Leu432=)
5g.138947237C>GCA446793278SIL1c.1266G>C (p.Leu422=)
c.1287G>C (p.Leu429=)
n.601G>C
c.1296G>C (p.Leu432=)
 gnomAD v4
5g.138947237C>TCA446793279SIL1c.1266G>A (p.Leu422=)
c.1287G>A (p.Leu429=)
n.601G>A
c.1296G>A (p.Leu432=)
5g.138947238A>CCA361136567SIL1c.1265T>G (p.Leu422Arg)
c.1286T>G (p.Leu429Arg)
n.600T>G
c.1295T>G (p.Leu432Arg)
5g.138947238A>GCA361136568SIL1c.1265T>C (p.Leu422Pro)
c.1286T>C (p.Leu429Pro)
n.600T>C
c.1295T>C (p.Leu432Pro)
5g.138947238A>TCA361136569SIL1c.1265T>A (p.Leu422Gln)
c.1286T>A (p.Leu429Gln)
n.600T>A
c.1295T>A (p.Leu432Gln)
5g.138947239G>ACA446793280SIL1c.1264C>T (p.Leu422=)
c.1285C>T (p.Leu429=)
n.599C>T
c.1294C>T (p.Leu432=)
5g.138947239G>CCA361136570SIL1c.1264C>G (p.Leu422Val)
c.1285C>G (p.Leu429Val)
n.599C>G
c.1294C>G (p.Leu432Val)
5g.138947239G>TCA361136571SIL1c.1264C>A (p.Leu422Met)
c.1285C>A (p.Leu429Met)
n.599C>A
c.1294C>A (p.Leu432Met)
5g.138947240T>ACA446793281SIL1c.1263A>T (p.Thr421=)
c.1284A>T (p.Thr428=)
n.598A>T
c.1293A>T (p.Thr431=)
5g.138947240T>CCA446793282SIL1c.1263A>G (p.Thr421=)
c.1284A>G (p.Thr428=)
n.598A>G
c.1293A>G (p.Thr431=)
 ClinVar dbSNP gnomAD v4
5g.138947240T>GCA446793283SIL1c.1263A>C (p.Thr421=)
c.1284A>C (p.Thr428=)
n.598A>C
c.1293A>C (p.Thr431=)
 dbSNP gnomAD v2 gnomAD v4
5g.138947240T=CA1586100235SIL1c.1263A= (p.Thr421=)
c.1284A= (p.Thr428=)
n.598A=
c.1293A= (p.Thr431=)
5g.138947241G>ACA361136572SIL1c.1262C>T (p.Thr421Ile)
c.1283C>T (p.Thr428Ile)
n.597C>T
c.1292C>T (p.Thr431Ile)
5g.138947241G>CCA361136573SIL1c.1262C>G (p.Thr421Arg)
c.1283C>G (p.Thr428Arg)
n.597C>G
c.1292C>G (p.Thr431Arg)
 gnomAD v4
5g.138947241G>TCA361136574SIL1c.1262C>A (p.Thr421Lys)
c.1283C>A (p.Thr428Lys)
n.597C>A
c.1292C>A (p.Thr431Lys)
5g.138947242T>ACA361136576SIL1c.1261A>T (p.Thr421Ser)
c.1282A>T (p.Thr428Ser)
n.596A>T
c.1291A>T (p.Thr431Ser)
5g.138947242T>CCA361136577SIL1c.1261A>G (p.Thr421Ala)
c.1282A>G (p.Thr428Ala)
n.596A>G
c.1291A>G (p.Thr431Ala)
 ClinVar gnomAD v4
5g.138947242T>GCA361136575SIL1c.1261A>C (p.Thr421Pro)
c.1282A>C (p.Thr428Pro)
n.596A>C
c.1291A>C (p.Thr431Pro)
5g.138947243C>ACA361136579SIL1c.1260G>T (p.Arg420Ser)
c.1281G>T (p.Arg427Ser)
n.595G>T
c.1290G>T (p.Arg430Ser)
5g.138947243C>GCA361136578SIL1c.1260G>C (p.Arg420Ser)
c.1281G>C (p.Arg427Ser)
n.595G>C
c.1290G>C (p.Arg430Ser)
5g.138947243C>TCA446793284SIL1c.1260G>A (p.Arg420=)
c.1281G>A (p.Arg427=)
n.595G>A
c.1290G>A (p.Arg430=)
 gnomAD v4
5g.138947244C>ACA361136580SIL1c.1259G>T (p.Arg420Met)
c.1280G>T (p.Arg427Met)
n.594G>T
c.1289G>T (p.Arg430Met)
5g.138947244C>GCA361136581SIL1c.1259G>C (p.Arg420Thr)
c.1280G>C (p.Arg427Thr)
n.594G>C
c.1289G>C (p.Arg430Thr)
5g.138947244C>TCA361136582SIL1c.1259G>A (p.Arg420Lys)
c.1280G>A (p.Arg427Lys)
n.594G>A
c.1289G>A (p.Arg430Lys)
 gnomAD v4
5g.138947245T>ACA361136583SIL1c.1258A>T (p.Arg420Trp)
c.1279A>T (p.Arg427Trp)
n.593A>T
c.1288A>T (p.Arg430Trp)
5g.138947245T>CCA361136584SIL1c.1258A>G (p.Arg420Gly)
c.1279A>G (p.Arg427Gly)
n.593A>G
c.1288A>G (p.Arg430Gly)
5g.138947245T>GCA446793285SIL1c.1258A>C (p.Arg420=)
c.1279A>C (p.Arg427=)
n.593A>C
c.1288A>C (p.Arg430=)
5g.138947246G>ACA446793286SIL1c.1257C>T (p.Gly419=)
c.1278C>T (p.Gly426=)
n.592C>T
c.1287C>T (p.Gly429=)
5g.138947246G>CCA446793287SIL1c.1257C>G (p.Gly419=)
c.1278C>G (p.Gly426=)
n.592C>G
c.1287C>G (p.Gly429=)
5g.138947246G>TCA446793288SIL1c.1257C>A (p.Gly419=)
c.1278C>A (p.Gly426=)
n.592C>A
c.1287C>A (p.Gly429=)
5g.138947247C>ACA361136586SIL1c.1256G>T (p.Gly419Val)
c.1277G>T (p.Gly426Val)
n.591G>T
c.1286G>T (p.Gly429Val)
5g.138947247C=CA1586100236SIL1c.1256G= (p.Gly419=)
c.1277G= (p.Gly426=)
n.591G=
c.1286G= (p.Gly429=)
5g.138947247C>GCA361136585SIL1c.1256G>C (p.Gly419Ala)
c.1277G>C (p.Gly426Ala)
n.591G>C
c.1286G>C (p.Gly429Ala)
5g.138947247C>TCA3432335SIL1c.1256G>A (p.Gly419Asp)
c.1277G>A (p.Gly426Asp)
n.591G>A
c.1286G>A (p.Gly429Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.138947248C>ACA128236294SIL1c.1255G>T (p.Gly419Cys)
c.1276G>T (p.Gly426Cys)
n.590G>T
c.1285G>T (p.Gly429Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.138947248C=CA1586100237SIL1c.1255G= (p.Gly419=)
c.1276G= (p.Gly426=)
n.590G=
c.1285G= (p.Gly429=)
5g.138947248C>GCA361136587SIL1c.1255G>C (p.Gly419Arg)
c.1276G>C (p.Gly426Arg)
n.590G>C
c.1285G>C (p.Gly429Arg)
5g.138947248C>TCA223719SIL1c.1255G>A (p.Gly419Ser)
c.1276G>A (p.Gly426Ser)
n.590G>A
c.1285G>A (p.Gly429Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.138947249G>ACA446793472SIL1c.1254C>T (p.Leu418=)
c.1275C>T (p.Leu425=)
n.589C>T
c.1284C>T (p.Leu428=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.138947249G>CCA446793473SIL1c.1254C>G (p.Leu418=)
c.1275C>G (p.Leu425=)
n.589C>G
c.1284C>G (p.Leu428=)
5g.138947249G=CA1586100238SIL1c.1254C= (p.Leu418=)
c.1275C= (p.Leu425=)
n.589C=
c.1284C= (p.Leu428=)
5g.138947249G>TCA446793474SIL1c.1254C>A (p.Leu418=)
c.1275C>A (p.Leu425=)
n.589C>A
c.1284C>A (p.Leu428=)
 gnomAD v4
5g.138947250A>CCA361136588SIL1c.1253T>G (p.Leu418Arg)
c.1274T>G (p.Leu425Arg)
n.588T>G
c.1283T>G (p.Leu428Arg)
5g.138947250A>GCA361136589SIL1c.1253T>C (p.Leu418Pro)
c.1274T>C (p.Leu425Pro)
n.588T>C
c.1283T>C (p.Leu428Pro)
5g.138947250A>TCA361136590SIL1c.1253T>A (p.Leu418His)
c.1274T>A (p.Leu425His)
n.588T>A
c.1283T>A (p.Leu428His)
5g.138947251G>ACA3432336SIL1c.1252C>T (p.Leu418Phe)
c.1273C>T (p.Leu425Phe)
n.587C>T
c.1282C>T (p.Leu428Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.138947251G>CCA361136592SIL1c.1252C>G (p.Leu418Val)
c.1273C>G (p.Leu425Val)
n.587C>G
c.1282C>G (p.Leu428Val)
5g.138947251G=CA1586100239SIL1c.1252C= (p.Leu418=)
c.1273C= (p.Leu425=)
n.587C=
c.1282C= (p.Leu428=)
5g.138947251G>TCA361136591SIL1c.1252C>A (p.Leu418Ile)
c.1273C>A (p.Leu425Ile)
n.587C>A
c.1282C>A (p.Leu428Ile)
5g.138947252C>ACA361136593SIL1c.1251G>T (p.Gln417His)
c.1272G>T (p.Gln424His)
n.586G>T
c.1281G>T (p.Gln427His)
5g.138947252C>GCA361136594SIL1c.1251G>C (p.Gln417His)
c.1272G>C (p.Gln424His)
n.586G>C
c.1281G>C (p.Gln427His)
5g.138947252C>TCA446793477SIL1c.1251G>A (p.Gln417=)
c.1272G>A (p.Gln424=)
n.586G>A
c.1281G>A (p.Gln427=)
 gnomAD v4
5g.138947253T>ACA361136595SIL1c.1250A>T (p.Gln417Leu)
c.1271A>T (p.Gln424Leu)
n.585A>T
c.1280A>T (p.Gln427Leu)
5g.138947253T>CCA361136596SIL1c.1250A>G (p.Gln417Arg)
c.1271A>G (p.Gln424Arg)
n.585A>G
c.1280A>G (p.Gln427Arg)
5g.138947253T>GCA361136597SIL1c.1250A>C (p.Gln417Pro)
c.1271A>C (p.Gln424Pro)
n.585A>C
c.1280A>C (p.Gln427Pro)
5g.138947254G>ACA3432337SIL1c.1249C>T (p.Gln417Ter)
c.1270C>T (p.Gln424Ter)
n.584C>T
c.1279C>T (p.Gln427Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.138947254G>CCA361136598SIL1c.1249C>G (p.Gln417Glu)
c.1270C>G (p.Gln424Glu)
n.584C>G
c.1279C>G (p.Gln427Glu)
5g.138947254G=CA1586100240SIL1c.1249C= (p.Gln417=)
c.1270C= (p.Gln424=)
n.584C=
c.1279C= (p.Gln427=)
5g.138947254G>TCA361136599SIL1c.1249C>A (p.Gln417Lys)
c.1270C>A (p.Gln424Lys)
n.584C>A
c.1279C>A (p.Gln427Lys)
 gnomAD v4
5g.138947255G>ACA446793478SIL1c.1248C>T (p.Pro416=)
c.1269C>T (p.Pro423=)
n.583C>T
c.1278C>T (p.Pro426=)
 gnomAD v4
5g.138947255G>CCA446793479SIL1c.1248C>G (p.Pro416=)
c.1269C>G (p.Pro423=)
n.583C>G
c.1278C>G (p.Pro426=)
5g.138947255G>TCA446793480SIL1c.1248C>A (p.Pro416=)
c.1269C>A (p.Pro423=)
n.583C>A
c.1278C>A (p.Pro426=)
5g.138947256G>ACA361136600SIL1c.1247C>T (p.Pro416Leu)
c.1268C>T (p.Pro423Leu)
n.582C>T
c.1277C>T (p.Pro426Leu)
 gnomAD v4
5g.138947256G>CCA361136601SIL1c.1247C>G (p.Pro416Arg)
c.1268C>G (p.Pro423Arg)
n.582C>G
c.1277C>G (p.Pro426Arg)
 gnomAD v4
5g.138947256G>TCA361136602SIL1c.1247C>A (p.Pro416His)
c.1268C>A (p.Pro423His)
n.582C>A
c.1277C>A (p.Pro426His)
 ClinVar COSMIC
5g.138947257G>ACA361136603SIL1c.1246C>T (p.Pro416Ser)
c.1267C>T (p.Pro423Ser)
n.581C>T
c.1276C>T (p.Pro426Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.138947257G>CCA361136605SIL1c.1246C>G (p.Pro416Ala)
c.1267C>G (p.Pro423Ala)
n.581C>G
c.1276C>G (p.Pro426Ala)
5g.138947257G=CA1586100241SIL1c.1246C= (p.Pro416=)
c.1267C= (p.Pro423=)
n.581C=
c.1276C= (p.Pro426=)
5g.138947257G>TCA361136604SIL1c.1246C>A (p.Pro416Thr)
c.1267C>A (p.Pro423Thr)
n.581C>A
c.1276C>A (p.Pro426Thr)
5g.138947262_138947276delCA2675501735SIL1c.1232_1246del (p.Arg411_Asp415del)
c.1253_1267del (p.Arg418_Asp422del)
n.567_581del
c.1262_1276del (p.Arg421_Asp425del)
 gnomAD v4
5g.138947258G>ACA446793482SIL1c.1245C>T (p.Asp415=)
c.1266C>T (p.Asp422=)
n.580C>T
c.1275C>T (p.Asp425=)
 gnomAD v4
5g.138947258G>CCA361136606SIL1c.1245C>G (p.Asp415Glu)
c.1266C>G (p.Asp422Glu)
n.580C>G
c.1275C>G (p.Asp425Glu)
5g.138947258G=CA1586100242SIL1c.1245C= (p.Asp415=)
c.1266C= (p.Asp422=)
n.580C=
c.1275C= (p.Asp425=)
5g.138947258G>TCA361136607SIL1c.1245C>A (p.Asp415Glu)
c.1266C>A (p.Asp422Glu)
n.580C>A
c.1275C>A (p.Asp425Glu)
 dbSNP
5g.138947259T>ACA361136608SIL1c.1244A>T (p.Asp415Val)
c.1265A>T (p.Asp422Val)
n.579A>T
c.1274A>T (p.Asp425Val)
5g.138947259T>CCA361136609SIL1c.1244A>G (p.Asp415Gly)
c.1265A>G (p.Asp422Gly)
n.579A>G
c.1274A>G (p.Asp425Gly)
5g.138947259T>GCA361136610SIL1c.1244A>C (p.Asp415Ala)
c.1265A>C (p.Asp422Ala)
n.579A>C
c.1274A>C (p.Asp425Ala)
5g.138947260C>ACA361136611SIL1c.1243G>T (p.Asp415Tyr)
c.1264G>T (p.Asp422Tyr)
n.578G>T
c.1273G>T (p.Asp425Tyr)
5g.138947260C>GCA361136612SIL1c.1243G>C (p.Asp415His)
c.1264G>C (p.Asp422His)
n.578G>C
c.1273G>C (p.Asp425His)
5g.138947260C>TCA361136613SIL1c.1243G>A (p.Asp415Asn)
c.1264G>A (p.Asp422Asn)
n.578G>A
c.1273G>A (p.Asp425Asn)
5g.138947261C>ACA361136614SIL1c.1242G>T (p.Gln414His)
c.1263G>T (p.Gln421His)
n.577G>T
c.1272G>T (p.Gln424His)
5g.138947261C>GCA361136615SIL1c.1242G>C (p.Gln414His)
c.1263G>C (p.Gln421His)
n.577G>C
c.1272G>C (p.Gln424His)
5g.138947261C>TCA446793486SIL1c.1242G>A (p.Gln414=)
c.1263G>A (p.Gln421=)
n.577G>A
c.1272G>A (p.Gln424=)
 gnomAD v4
5g.138947262T>ACA361136616SIL1c.1241A>T (p.Gln414Leu)
c.1262A>T (p.Gln421Leu)
n.576A>T
c.1271A>T (p.Gln424Leu)
5g.138947262T>CCA361136617SIL1c.1241A>G (p.Gln414Arg)
c.1262A>G (p.Gln421Arg)
n.576A>G
c.1271A>G (p.Gln424Arg)
5g.138947262T>GCA361136618SIL1c.1241A>C (p.Gln414Pro)
c.1262A>C (p.Gln421Pro)
n.576A>C
c.1271A>C (p.Gln424Pro)
5g.138947263G>ACA361136619SIL1c.1240C>T (p.Gln414Ter)
c.1261C>T (p.Gln421Ter)
n.575C>T
c.1270C>T (p.Gln424Ter)
 gnomAD v4
5g.138947263G>CCA361136621SIL1c.1240C>G (p.Gln414Glu)
c.1261C>G (p.Gln421Glu)
n.575C>G
c.1270C>G (p.Gln424Glu)
 dbSNP gnomAD v2 gnomAD v4
5g.138947263G=CA1586100243SIL1c.1240C= (p.Gln414=)
c.1261C= (p.Gln421=)
n.575C=
c.1270C= (p.Gln424=)
5g.138947263G>TCA361136620SIL1c.1240C>A (p.Gln414Lys)
c.1261C>A (p.Gln421Lys)
n.575C>A
c.1270C>A (p.Gln424Lys)
5g.138947264A>CCA446793487SIL1c.1239T>G (p.Arg413=)
c.1260T>G (p.Arg420=)
n.574T>G
c.1269T>G (p.Arg423=)
5g.138947264A>GCA446793488SIL1c.1239T>C (p.Arg413=)
c.1260T>C (p.Arg420=)
n.574T>C
c.1269T>C (p.Arg423=)
5g.138947264A>TCA446793489SIL1c.1239T>A (p.Arg413=)
c.1260T>A (p.Arg420=)
n.574T>A
c.1269T>A (p.Arg423=)
5g.138947265C>ACA3432338SIL1c.1238G>T (p.Arg413Leu)
c.1259G>T (p.Arg420Leu)
n.573G>T
c.1268G>T (p.Arg423Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.138947265C=CA1586100244SIL1c.1238G= (p.Arg413=)
c.1259G= (p.Arg420=)
n.573G=
c.1268G= (p.Arg423=)
5g.138947265C>GCA361136622SIL1c.1238G>C (p.Arg413Pro)
c.1259G>C (p.Arg420Pro)
n.573G>C
c.1268G>C (p.Arg423Pro)
5g.138947265C>TCA3432339SIL1c.1238G>A (p.Arg413His)
c.1259G>A (p.Arg420His)
n.573G>A
c.1268G>A (p.Arg423His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.138947266G>ACA3432340SIL1c.1237C>T (p.Arg413Cys)
c.1258C>T (p.Arg420Cys)
n.572C>T
c.1267C>T (p.Arg423Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.138947266G>CCA361136623SIL1c.1237C>G (p.Arg413Gly)
c.1258C>G (p.Arg420Gly)
n.572C>G
c.1267C>G (p.Arg423Gly)
5g.138947266G=CA1586100245SIL1c.1237C= (p.Arg413=)
c.1258C= (p.Arg420=)
n.572C=
c.1267C= (p.Arg423=)
5g.138947266G>TCA361136624SIL1c.1237C>A (p.Arg413Ser)
c.1258C>A (p.Arg420Ser)
n.572C>A
c.1267C>A (p.Arg423Ser)
5g.138947267G>ACA446793491SIL1c.1236C>T (p.Tyr412=)
c.1257C>T (p.Tyr419=)
n.571C>T
c.1266C>T (p.Tyr422=)
 gnomAD v4
5g.138947267G>CCA361136625SIL1c.1236C>G (p.Tyr412Ter)
c.1257C>G (p.Tyr419Ter)
n.571C>G
c.1266C>G (p.Tyr422Ter)
5g.138947267G>TCA361136626SIL1c.1236C>A (p.Tyr412Ter)
c.1257C>A (p.Tyr419Ter)
n.571C>A
c.1266C>A (p.Tyr422Ter)
5g.138947268T>ACA361136627SIL1c.1235A>T (p.Tyr412Phe)
c.1256A>T (p.Tyr419Phe)
n.570A>T
c.1265A>T (p.Tyr422Phe)
5g.138947268T>CCA361136628SIL1c.1235A>G (p.Tyr412Cys)
c.1256A>G (p.Tyr419Cys)
n.570A>G
c.1265A>G (p.Tyr422Cys)
5g.138947268T>GCA361136629SIL1c.1235A>C (p.Tyr412Ser)
c.1256A>C (p.Tyr419Ser)
n.570A>C
c.1265A>C (p.Tyr422Ser)
5g.138947269A>CCA361136631SIL1c.1234T>G (p.Tyr412Asp)
c.1255T>G (p.Tyr419Asp)
n.569T>G
c.1264T>G (p.Tyr422Asp)
5g.138947269A>GCA361136632SIL1c.1234T>C (p.Tyr412His)
c.1255T>C (p.Tyr419His)
n.569T>C
c.1264T>C (p.Tyr422His)
5g.138947269A>TCA361136630SIL1c.1234T>A (p.Tyr412Asn)
c.1255T>A (p.Tyr419Asn)
n.569T>A
c.1264T>A (p.Tyr422Asn)
5g.138947270G>ACA446793495SIL1c.1233C>T (p.Arg411=)
c.1254C>T (p.Arg418=)
n.568C>T
c.1263C>T (p.Arg421=)
5g.138947270G>CCA446793496SIL1c.1233C>G (p.Arg411=)
c.1254C>G (p.Arg418=)
n.568C>G
c.1263C>G (p.Arg421=)
5g.138947270G>TCA446793493SIL1c.1233C>A (p.Arg411=)
c.1254C>A (p.Arg418=)
n.568C>A
c.1263C>A (p.Arg421=)
5g.138947271C>ACA361136633SIL1c.1232G>T (p.Arg411Leu)
c.1253G>T (p.Arg418Leu)
n.567G>T
c.1262G>T (p.Arg421Leu)
5g.138947271C=CA1586100246SIL1c.1232G= (p.Arg411=)
c.1253G= (p.Arg418=)
n.567G=
c.1262G= (p.Arg421=)
5g.138947271C>GCA361136634SIL1c.1232G>C (p.Arg411Pro)
c.1253G>C (p.Arg418Pro)
n.567G>C
c.1262G>C (p.Arg421Pro)
5g.138947271C>TCA3432341SIL1c.1232G>A (p.Arg411His)
c.1253G>A (p.Arg418His)
n.567G>A
c.1262G>A (p.Arg421His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.138947272G>ACA3432342SIL1c.1231C>T (p.Arg411Cys)
c.1252C>T (p.Arg418Cys)
n.566C>T
c.1261C>T (p.Arg421Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.138947272G>CCA3432343SIL1c.1231C>G (p.Arg411Gly)
c.1252C>G (p.Arg418Gly)
n.566C>G
c.1261C>G (p.Arg421Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.138947272G=CA1586100247SIL1c.1231C= (p.Arg411=)
c.1252C= (p.Arg418=)
n.566C=
c.1261C= (p.Arg421=)
5g.138947272G>TCA361136635SIL1c.1231C>A (p.Arg411Ser)
c.1252C>A (p.Arg418Ser)
n.566C>A
c.1261C>A (p.Arg421Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.138947273G>ACA446793497SIL1c.1230C>T (p.Asp410=)
c.1251C>T (p.Asp417=)
n.565C>T
c.1260C>T (p.Asp420=)
5g.138947273G>CCA361136637SIL1c.1230C>G (p.Asp410Glu)
c.1251C>G (p.Asp417Glu)
n.565C>G
c.1260C>G (p.Asp420Glu)
5g.138947273G>TCA361136636SIL1c.1230C>A (p.Asp410Glu)
c.1251C>A (p.Asp417Glu)
n.565C>A
c.1260C>A (p.Asp420Glu)
5g.138947274T>ACA361136638SIL1c.1229A>T (p.Asp410Val)
c.1250A>T (p.Asp417Val)
n.564A>T
c.1259A>T (p.Asp420Val)
5g.138947274T>CCA361136639SIL1c.1229A>G (p.Asp410Gly)
c.1250A>G (p.Asp417Gly)
n.564A>G
c.1259A>G (p.Asp420Gly)
5g.138947274T>GCA361136640SIL1c.1229A>C (p.Asp410Ala)
c.1250A>C (p.Asp417Ala)
n.564A>C
c.1259A>C (p.Asp420Ala)
5g.138947275C>ACA361136641SIL1c.1228G>T (p.Asp410Tyr)
c.1249G>T (p.Asp417Tyr)
n.563G>T
c.1258G>T (p.Asp420Tyr)
5g.138947275C>GCA361136642SIL1c.1228G>C (p.Asp410His)
c.1249G>C (p.Asp417His)
n.563G>C
c.1258G>C (p.Asp420His)
5g.138947275C>TCA361136643SIL1c.1228G>A (p.Asp410Asn)
c.1249G>A (p.Asp417Asn)
n.563G>A
c.1258G>A (p.Asp420Asn)
5g.138947276C>ACA446793498SIL1c.1227G>T (p.Arg409=)
c.1248G>T (p.Arg416=)
n.562G>T
c.1257G>T (p.Arg419=)
5g.138947276C>GCA446793500SIL1c.1227G>C (p.Arg409=)
c.1248G>C (p.Arg416=)
n.562G>C
c.1257G>C (p.Arg419=)
5g.138947276C>TCA446793501SIL1c.1227G>A (p.Arg409=)
c.1248G>A (p.Arg416=)
n.562G>A
c.1257G>A (p.Arg419=)
5g.138947277C>ACA361136645SIL1c.1226G>T (p.Arg409Leu)
c.1247G>T (p.Arg416Leu)
n.561G>T
c.1256G>T (p.Arg419Leu)
5g.138947277C=CA1586100248SIL1c.1226G= (p.Arg409=)
c.1247G= (p.Arg416=)
n.561G=
c.1256G= (p.Arg419=)
5g.138947277C>GCA361136644SIL1c.1226G>C (p.Arg409Pro)
c.1247G>C (p.Arg416Pro)
n.561G>C
c.1256G>C (p.Arg419Pro)
5g.138947277C>TCA3432344SIL1c.1226G>A (p.Arg409Gln)
c.1247G>A (p.Arg416Gln)
n.561G>A
c.1256G>A (p.Arg419Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.138947278G>ACA3432345SIL1c.1225C>T (p.Arg409Trp)
c.1246C>T (p.Arg416Trp)
n.560C>T
c.1255C>T (p.Arg419Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.138947278G>CCA361136646SIL1c.1225C>G (p.Arg409Gly)
c.1246C>G (p.Arg416Gly)
n.560C>G
c.1255C>G (p.Arg419Gly)
5g.138947278G=CA1586100249SIL1c.1225C= (p.Arg409=)
c.1246C= (p.Arg416=)
n.560C=
c.1255C= (p.Arg419=)
5g.138947278G>TCA446793502SIL1c.1225C>A (p.Arg409=)
c.1246C>A (p.Arg416=)
n.560C>A
c.1255C>A (p.Arg419=)
5g.138947279G>ACA446793503SIL1c.1224C>T (p.Cys408=)
c.1245C>T (p.Cys415=)
n.559C>T
c.1254C>T (p.Cys418=)
 ClinVar dbSNP gnomAD v4
5g.138947279G>CCA361136647SIL1c.1224C>G (p.Cys408Trp)
c.1245C>G (p.Cys415Trp)
n.559C>G
c.1254C>G (p.Cys418Trp)
5g.138947279G=CA1586100250SIL1c.1224C= (p.Cys408=)
c.1245C= (p.Cys415=)
n.559C=
c.1254C= (p.Cys418=)
5g.138947279G>TCA361136648SIL1c.1224C>A (p.Cys408Ter)
c.1245C>A (p.Cys415Ter)
n.559C>A
c.1254C>A (p.Cys418Ter)
5g.138947280C>ACA361136649SIL1c.1223G>T (p.Cys408Phe)
c.1244G>T (p.Cys415Phe)
n.558G>T
c.1253G>T (p.Cys418Phe)
 dbSNP gnomAD v3 gnomAD v4
5g.138947280C=CA1586100251SIL1c.1223G= (p.Cys408=)
c.1244G= (p.Cys415=)
n.558G=
c.1253G= (p.Cys418=)
5g.138947280C>GCA361136650SIL1c.1223G>C (p.Cys408Ser)
c.1244G>C (p.Cys415Ser)
n.558G>C
c.1253G>C (p.Cys418Ser)
5g.138947280C>TCA361136651SIL1c.1223G>A (p.Cys408Tyr)
c.1244G>A (p.Cys415Tyr)
n.558G>A
c.1253G>A (p.Cys418Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.138947281A>CCA361136652SIL1c.1222T>G (p.Cys408Gly)
c.1243T>G (p.Cys415Gly)
n.557T>G
c.1252T>G (p.Cys418Gly)
5g.138947281A>GCA361136653SIL1c.1222T>C (p.Cys408Arg)
c.1243T>C (p.Cys415Arg)
n.557T>C
c.1252T>C (p.Cys418Arg)
5g.138947281A>TCA361136654SIL1c.1222T>A (p.Cys408Ser)
c.1243T>A (p.Cys415Ser)
n.557T>A
c.1252T>A (p.Cys418Ser)
5g.138947282G>ACA446793507SIL1c.1221C>T (p.Thr407=)
c.1242C>T (p.Thr414=)
n.556C>T
c.1251C>T (p.Thr417=)
5g.138947282G>CCA446793508SIL1c.1221C>G (p.Thr407=)
c.1242C>G (p.Thr414=)
n.556C>G
c.1251C>G (p.Thr417=)
5g.138947282G>TCA446793509SIL1c.1221C>A (p.Thr407=)
c.1242C>A (p.Thr414=)
n.556C>A
c.1251C>A (p.Thr417=)
5g.138947283G>ACA361136655SIL1c.1220C>T (p.Thr407Ile)
c.1241C>T (p.Thr414Ile)
n.555C>T
c.1250C>T (p.Thr417Ile)
 gnomAD v4
5g.138947283G>CCA361136656SIL1c.1220C>G (p.Thr407Ser)
c.1241C>G (p.Thr414Ser)
n.555C>G
c.1250C>G (p.Thr417Ser)
 gnomAD v4
5g.138947283G>TCA361136657SIL1c.1220C>A (p.Thr407Asn)
c.1241C>A (p.Thr414Asn)
n.555C>A
c.1250C>A (p.Thr417Asn)
5g.138947284T>ACA361136658SIL1c.1219A>T (p.Thr407Ser)
c.1240A>T (p.Thr414Ser)
n.554A>T
c.1249A>T (p.Thr417Ser)
5g.138947284T>CCA361136660SIL1c.1219A>G (p.Thr407Ala)
c.1240A>G (p.Thr414Ala)
n.554A>G
c.1249A>G (p.Thr417Ala)
5g.138947284T>GCA361136659SIL1c.1219A>C (p.Thr407Pro)
c.1240A>C (p.Thr414Pro)
n.554A>C
c.1249A>C (p.Thr417Pro)
 dbSNP
5g.138947284T=CA1586100252SIL1c.1219A= (p.Thr407=)
c.1240A= (p.Thr414=)
n.554A=
c.1249A= (p.Thr417=)
5g.138947285G>ACA446793513SIL1c.1218C>T (p.Thr406=)
c.1239C>T (p.Thr413=)
n.553C>T
c.1248C>T (p.Thr416=)
 ClinVar gnomAD v4
5g.138947285G>CCA446793514SIL1c.1218C>G (p.Thr406=)
c.1239C>G (p.Thr413=)
n.553C>G
c.1248C>G (p.Thr416=)
5g.138947285G=CA1586100253SIL1c.1218C= (p.Thr406=)
c.1239C= (p.Thr413=)
n.553C=
c.1248C= (p.Thr416=)
5g.138947285G>TCA446793515SIL1c.1218C>A (p.Thr406=)
c.1239C>A (p.Thr413=)
n.553C>A
c.1248C>A (p.Thr416=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.138947286G>ACA361136661SIL1c.1217C>T (p.Thr406Ile)
c.1238C>T (p.Thr413Ile)
n.552C>T
c.1247C>T (p.Thr416Ile)
5g.138947286G>CCA361136662SIL1c.1217C>G (p.Thr406Ser)
c.1238C>G (p.Thr413Ser)
n.552C>G
c.1247C>G (p.Thr416Ser)
5g.138947286G>TCA361136663SIL1c.1217C>A (p.Thr406Asn)
c.1238C>A (p.Thr413Asn)
n.552C>A
c.1247C>A (p.Thr416Asn)
5g.138947287T>ACA361136664SIL1c.1216A>T (p.Thr406Ser)
c.1237A>T (p.Thr413Ser)
n.551A>T
c.1246A>T (p.Thr416Ser)
5g.138947287T>CCA361136665SIL1c.1216A>G (p.Thr406Ala)
c.1237A>G (p.Thr413Ala)
n.551A>G
c.1246A>G (p.Thr416Ala)
5g.138947287T>GCA361136666SIL1c.1216A>C (p.Thr406Pro)
c.1237A>C (p.Thr413Pro)
n.551A>C
c.1246A>C (p.Thr416Pro)
5g.138947288C>ACA239356SIL1c.1215G>T (p.Leu405=)
c.1236G>T (p.Leu412=)
n.550G>T
c.1245G>T (p.Leu415=)
 ClinVar dbSNP gnomAD v4
5g.138947288C=CA1586100254SIL1c.1215G= (p.Leu405=)
c.1236G= (p.Leu412=)
n.550G=
c.1245G= (p.Leu415=)
5g.138947288C>GCA446793516SIL1c.1215G>C (p.Leu405=)
c.1236G>C (p.Leu412=)
n.550G>C
c.1245G>C (p.Leu415=)
5g.138947288C>TCA446793517SIL1c.1215G>A (p.Leu405=)
c.1236G>A (p.Leu412=)
n.550G>A
c.1245G>A (p.Leu415=)
 gnomAD v4
5g.138947289A>CCA361136667SIL1c.1214T>G (p.Leu405Arg)
c.1235T>G (p.Leu412Arg)
n.549T>G
c.1244T>G (p.Leu415Arg)
5g.138947289A>GCA361136668SIL1c.1214T>C (p.Leu405Pro)
c.1235T>C (p.Leu412Pro)
n.549T>C
c.1244T>C (p.Leu415Pro)
5g.138947289A>TCA361136669SIL1c.1214T>A (p.Leu405Gln)
c.1235T>A (p.Leu412Gln)
n.549T>A
c.1244T>A (p.Leu415Gln)
5g.138947290G>ACA446793521SIL1c.1213C>T (p.Leu405=)
c.1234C>T (p.Leu412=)
n.548C>T
c.1243C>T (p.Leu415=)
 gnomAD v4
5g.138947290G>CCA361136670SIL1c.1213C>G (p.Leu405Val)
c.1234C>G (p.Leu412Val)
n.548C>G
c.1243C>G (p.Leu415Val)
5g.138947290G>TCA361136671SIL1c.1213C>A (p.Leu405Met)
c.1234C>A (p.Leu412Met)
n.548C>A
c.1243C>A (p.Leu415Met)
5g.138947291G>ACA446793522SIL1c.1212C>T (p.Leu404=)
c.1233C>T (p.Leu411=)
n.547C>T
c.1242C>T (p.Leu414=)
5g.138947291G>CCA446793523SIL1c.1212C>G (p.Leu404=)
c.1233C>G (p.Leu411=)
n.547C>G
c.1242C>G (p.Leu414=)
 gnomAD v4
5g.138947291G>TCA446793524SIL1c.1212C>A (p.Leu404=)
c.1233C>A (p.Leu411=)
n.547C>A
c.1242C>A (p.Leu414=)
5g.138947292A>CCA361136673SIL1c.1211T>G (p.Leu404Arg)
c.1232T>G (p.Leu411Arg)
n.546T>G
c.1241T>G (p.Leu414Arg)
5g.138947292A>GCA361136674SIL1c.1211T>C (p.Leu404Pro)
c.1232T>C (p.Leu411Pro)
n.546T>C
c.1241T>C (p.Leu414Pro)
5g.138947292A>TCA361136672SIL1c.1211T>A (p.Leu404His)
c.1232T>A (p.Leu411His)
n.546T>A
c.1241T>A (p.Leu414His)
5g.138947293G>ACA361136675SIL1c.1210C>T (p.Leu404Phe)
c.1231C>T (p.Leu411Phe)
n.545C>T
c.1240C>T (p.Leu414Phe)
5g.138947293G>CCA361136676SIL1c.1210C>G (p.Leu404Val)
c.1231C>G (p.Leu411Val)
n.545C>G
c.1240C>G (p.Leu414Val)
5g.138947293G>TCA361136677SIL1c.1210C>A (p.Leu404Ile)
c.1231C>A (p.Leu411Ile)
n.545C>A
c.1240C>A (p.Leu414Ile)
5g.138947294G>ACA446793526SIL1c.1209C>T (p.Val403=)
c.1230C>T (p.Val410=)
n.544C>T
c.1239C>T (p.Val413=)
 dbSNP
5g.138947294G>CCA446793527SIL1c.1209C>G (p.Val403=)
c.1230C>G (p.Val410=)
n.544C>G
c.1239C>G (p.Val413=)
5g.138947294G=CA1586077099SIL1c.1209C= (p.Val403=)
c.1230C= (p.Val410=)
n.544C=
c.1239C= (p.Val413=)
5g.138947294G>TCA446793528SIL1c.1209C>A (p.Val403=)
c.1230C>A (p.Val410=)
n.544C>A
c.1239C>A (p.Val413=)
5g.138947294_138947296delinsACA2695205313SIL1c.1207_1209delinsT (p.Val403SerfsTer25)
c.1228_1230delinsT (p.Val410SerfsTer25)
n.542_544delinsT
c.1237_1239delinsT (p.Val413SerfsTer25)
5g.138947295A>CCA361136678SIL1c.1208T>G (p.Val403Gly)
c.1229T>G (p.Val410Gly)
n.543T>G
c.1238T>G (p.Val413Gly)
5g.138947295A>GCA361136679SIL1c.1208T>C (p.Val403Ala)
c.1229T>C (p.Val410Ala)
n.543T>C
c.1238T>C (p.Val413Ala)
5g.138947295A>TCA361136680SIL1c.1208T>A (p.Val403Asp)
c.1229T>A (p.Val410Asp)
n.543T>A
c.1238T>A (p.Val413Asp)
5g.138947296C>ACA361136681SIL1c.1207G>T (p.Val403Phe)
c.1228G>T (p.Val410Phe)
n.542G>T
c.1237G>T (p.Val413Phe)
5g.138947296C=CA1586077106SIL1c.1207G= (p.Val403=)
c.1228G= (p.Val410=)
n.542G=
c.1237G= (p.Val413=)
5g.138947296C>GCA361136682SIL1c.1207G>C (p.Val403Leu)
c.1228G>C (p.Val410Leu)
n.542G>C
c.1237G>C (p.Val413Leu)
5g.138947296C>TCA3432346SIL1c.1207G>A (p.Val403Ile)
c.1228G>A (p.Val410Ile)
n.542G>A
c.1237G>A (p.Val413Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.138947297G>ACA3432347SIL1c.1206C>T (p.Gly402=)
c.1227C>T (p.Gly409=)
n.541C>T
c.1236C>T (p.Gly412=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.138947297G>CCA446793529SIL1c.1206C>G (p.Gly402=)
c.1227C>G (p.Gly409=)
n.541C>G
c.1236C>G (p.Gly412=)
5g.138947297G=CA1586077116SIL1c.1206C= (p.Gly402=)
c.1227C= (p.Gly409=)
n.541C=
c.1236C= (p.Gly412=)
5g.138947297G>TCA446793530SIL1c.1206C>A (p.Gly402=)
c.1227C>A (p.Gly409=)
n.541C>A
c.1236C>A (p.Gly412=)
5g.138947297_138947298delinsGCCA1586077120SIL1c.1205_1206delinsGC (p.Gly402=)
c.1226_1227delinsGC (p.Gly409=)
n.540_541delinsGC
c.1235_1236delinsGC (p.Gly412=)
5g.138947298C>ACA361136683SIL1c.1205G>T (p.Gly402Val)
c.1226G>T (p.Gly409Val)
n.540G>T
c.1235G>T (p.Gly412Val)
 dbSNP
5g.138947298C=CA1586077131SIL1c.1205G= (p.Gly402=)
c.1226G= (p.Gly409=)
n.540G=
c.1235G= (p.Gly412=)
5g.138947298C>GCA361136684SIL1c.1205G>C (p.Gly402Ala)
c.1226G>C (p.Gly409Ala)
n.540G>C
c.1235G>C (p.Gly412Ala)
5g.138947298C>TCA128236373SIL1c.1205G>A (p.Gly402Asp)
c.1226G>A (p.Gly409Asp)
n.540G>A
c.1235G>A (p.Gly412Asp)
 dbSNP gnomAD v3 gnomAD v4
5g.138947300delCA10605092SIL1c.1205del (p.Gly402AlafsTer4)
c.1226del (p.Gly409AlafsTer4)
n.540del
c.1235del (p.Gly412AlafsTer4)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.138947299C>ACA361136686SIL1c.1204G>T (p.Gly402Cys)
c.1225G>T (p.Gly409Cys)
n.539G>T
c.1234G>T (p.Gly412Cys)
5g.138947299C=CA1586077137SIL1c.1204G= (p.Gly402=)
c.1225G= (p.Gly409=)
n.539G=
c.1234G= (p.Gly412=)
5g.138947299C>GCA3432348SIL1c.1204G>C (p.Gly402Arg)
c.1225G>C (p.Gly409Arg)
n.539G>C
c.1234G>C (p.Gly412Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.138947299C>TCA361136685SIL1c.1204G>A (p.Gly402Ser)
c.1225G>A (p.Gly409Ser)
n.539G>A
c.1234G>A (p.Gly412Ser)
5g.138947300C>ACA446793534SIL1c.1203G>T (p.Leu401=)
c.1224G>T (p.Leu408=)
n.538G>T
c.1233G>T (p.Leu411=)
5g.138947300C>GCA446793533SIL1c.1203G>C (p.Leu401=)
c.1224G>C (p.Leu408=)
n.538G>C
c.1233G>C (p.Leu411=)
5g.138947300C>TCA446793532SIL1c.1203G>A (p.Leu401=)
c.1224G>A (p.Leu408=)
n.538G>A
c.1233G>A (p.Leu411=)
5g.138947301delCA2675501810SIL1c.1202del (p.Leu401ArgfsTer5)
c.1223del (p.Leu408ArgfsTer5)
n.537del
c.1232del (p.Leu411ArgfsTer5)
 gnomAD v4
5g.138947301A>CCA361136688SIL1c.1202T>G (p.Leu401Arg)
c.1223T>G (p.Leu408Arg)
n.537T>G
c.1232T>G (p.Leu411Arg)
5g.138947301A>GCA361136687SIL1c.1202T>C (p.Leu401Pro)
c.1223T>C (p.Leu408Pro)
n.537T>C
c.1232T>C (p.Leu411Pro)
5g.138947301A>TCA361136689SIL1c.1202T>A (p.Leu401Gln)
c.1223T>A (p.Leu408Gln)
n.537T>A
c.1232T>A (p.Leu411Gln)
5g.138947302G>ACA446793535SIL1c.1201C>T (p.Leu401=)
c.1222C>T (p.Leu408=)
n.536C>T
c.1231C>T (p.Leu411=)
5g.138947302G>CCA361136690SIL1c.1201C>G (p.Leu401Val)
c.1222C>G (p.Leu408Val)
n.536C>G
c.1231C>G (p.Leu411Val)
 gnomAD v4
5g.138947302G>TCA361136691SIL1c.1201C>A (p.Leu401Met)
c.1222C>A (p.Leu408Met)
n.536C>A
c.1231C>A (p.Leu411Met)
5g.138947303T>ACA446793536SIL1c.1200A>T (p.Thr400=)
c.1221A>T (p.Thr407=)
n.535A>T
c.1230A>T (p.Thr410=)
5g.138947303T>CCA446793537SIL1c.1200A>G (p.Thr400=)
c.1221A>G (p.Thr407=)
n.535A>G
c.1230A>G (p.Thr410=)
 gnomAD v4 COSMIC
5g.138947303T>GCA446793538SIL1c.1200A>C (p.Thr400=)
c.1221A>C (p.Thr407=)
n.535A>C
c.1230A>C (p.Thr410=)
5g.138947304G>ACA361136692SIL1c.1199C>T (p.Thr400Ile)
c.1220C>T (p.Thr407Ile)
n.534C>T
c.1229C>T (p.Thr410Ile)
5g.138947304G>CCA361136694SIL1c.1199C>G (p.Thr400Arg)
c.1220C>G (p.Thr407Arg)
n.534C>G
c.1229C>G (p.Thr410Arg)
5g.138947304G>TCA361136693SIL1c.1199C>A (p.Thr400Lys)
c.1220C>A (p.Thr407Lys)
n.534C>A
c.1229C>A (p.Thr410Lys)
5g.138947305T>ACA361136695SIL1c.1198A>T (p.Thr400Ser)
c.1219A>T (p.Thr407Ser)
n.533A>T
c.1228A>T (p.Thr410Ser)
5g.138947305T>CCA361136697SIL1c.1198A>G (p.Thr400Ala)
c.1219A>G (p.Thr407Ala)
n.533A>G
c.1228A>G (p.Thr410Ala)
5g.138947305T>GCA361136696SIL1c.1198A>C (p.Thr400Pro)
c.1219A>C (p.Thr407Pro)
n.533A>C
c.1228A>C (p.Thr410Pro)
5g.138947306C>ACA361136698SIL1c.1197G>T (p.Gln399His)
c.1218G>T (p.Gln406His)
n.532G>T
c.1227G>T (p.Gln409His)
5g.138947306C>GCA361136699SIL1c.1197G>C (p.Gln399His)
c.1218G>C (p.Gln406His)
n.532G>C
c.1227G>C (p.Gln409His)
5g.138947306C>TCA446793540SIL1c.1197G>A (p.Gln399=)
c.1218G>A (p.Gln406=)
n.532G>A
c.1227G>A (p.Gln409=)
5g.138947307T>ACA361136700SIL1c.1196A>T (p.Gln399Leu)
c.1217A>T (p.Gln406Leu)
n.531A>T
c.1226A>T (p.Gln409Leu)
5g.138947307T>CCA361136701SIL1c.1196A>G (p.Gln399Arg)
c.1217A>G (p.Gln406Arg)
n.531A>G
c.1226A>G (p.Gln409Arg)
5g.138947307T>GCA361136702SIL1c.1196A>C (p.Gln399Pro)
c.1217A>C (p.Gln406Pro)
n.531A>C
c.1226A>C (p.Gln409Pro)
5g.138947308G>ACA361136703SIL1c.1195C>T (p.Gln399Ter)
c.1216C>T (p.Gln406Ter)
n.530C>T
c.1225C>T (p.Gln409Ter)
5g.138947308G>CCA361136704SIL1c.1195C>G (p.Gln399Glu)
c.1216C>G (p.Gln406Glu)
n.530C>G
c.1225C>G (p.Gln409Glu)
5g.138947308G=CA1586077139SIL1c.1195C= (p.Gln399=)
c.1216C= (p.Gln406=)
n.530C=
c.1225C= (p.Gln409=)
5g.138947308G>TCA3432349SIL1c.1195C>A (p.Gln399Lys)
c.1216C>A (p.Gln406Lys)
n.530C>A
c.1225C>A (p.Gln409Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.138947309C>ACA446793542SIL1c.1194G>T (p.Leu398=)
c.1215G>T (p.Leu405=)
n.529G>T
c.1224G>T (p.Leu408=)
5g.138947309C=CA1586077144SIL1c.1194G= (p.Leu398=)
c.1215G= (p.Leu405=)
n.529G=
c.1224G= (p.Leu408=)
5g.138947309C>GCA3432351SIL1c.1194G>C (p.Leu398=)
c.1215G>C (p.Leu405=)
n.529G>C
c.1224G>C (p.Leu408=)
 dbSNP ExAC gnomAD v2
5g.138947309C>TCA3432350SIL1c.1194G>A (p.Leu398=)
c.1215G>A (p.Leu405=)
n.529G>A
c.1224G>A (p.Leu408=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.138947310A=CA1586077149SIL1c.1193T= (p.Leu398=)
c.1214T= (p.Leu405=)
n.528T=
c.1223T= (p.Leu408=)
5g.138947310A>CCA361136705SIL1c.1193T>G (p.Leu398Arg)
c.1214T>G (p.Leu405Arg)
n.528T>G
c.1223T>G (p.Leu408Arg)
 gnomAD v4
5g.138947310A>GCA16618119SIL1c.1193T>C (p.Leu398Pro)
c.1214T>C (p.Leu405Pro)
n.528T>C
c.1223T>C (p.Leu408Pro)
 ClinVar dbSNP
5g.138947310A>TCA361136706SIL1c.1193T>A (p.Leu398Gln)
c.1214T>A (p.Leu405Gln)
n.528T>A
c.1223T>A (p.Leu408Gln)
5g.138947311G>ACA446793545SIL1c.1192C>T (p.Leu398=)
c.1213C>T (p.Leu405=)
n.527C>T
c.1222C>T (p.Leu408=)
5g.138947311G>CCA361136707SIL1c.1192C>G (p.Leu398Val)
c.1213C>G (p.Leu405Val)
n.527C>G
c.1222C>G (p.Leu408Val)
5g.138947311G=CA1586077153SIL1c.1192C= (p.Leu398=)
c.1213C= (p.Leu405=)
n.527C=
c.1222C= (p.Leu408=)
5g.138947311G>TCA361136708SIL1c.1192C>A (p.Leu398Met)
c.1213C>A (p.Leu405Met)
n.527C>A
c.1222C>A (p.Leu408Met)
 dbSNP
5g.138947312C>ACA446793546SIL1c.1191G>T (p.Val397=)
c.1212G>T (p.Val404=)
n.526G>T
c.1221G>T (p.Val407=)
5g.138947312C>GCA446793547SIL1c.1191G>C (p.Val397=)
c.1212G>C (p.Val404=)
n.526G>C
c.1221G>C (p.Val407=)
5g.138947312C>TCA446793548SIL1c.1191G>A (p.Val397=)
c.1212G>A (p.Val404=)
n.526G>A
c.1221G>A (p.Val407=)
 gnomAD v4
5g.138947313A>CCA361136711SIL1c.1190T>G (p.Val397Gly)
c.1211T>G (p.Val404Gly)
n.525T>G
c.1220T>G (p.Val407Gly)
5g.138947313A>GCA361136710SIL1c.1190T>C (p.Val397Ala)
c.1211T>C (p.Val404Ala)
n.525T>C
c.1220T>C (p.Val407Ala)
5g.138947313A>TCA361136709SIL1c.1190T>A (p.Val397Glu)
c.1211T>A (p.Val404Glu)
n.525T>A
c.1220T>A (p.Val407Glu)
5g.138947314C>ACA361136712SIL1c.1189G>T (p.Val397Leu)
c.1210G>T (p.Val404Leu)
n.524G>T
c.1219G>T (p.Val407Leu)
 gnomAD v4
5g.138947314C=CA1586077158SIL1c.1189G= (p.Val397=)
c.1210G= (p.Val404=)
n.524G=
c.1219G= (p.Val407=)
5g.138947314C>GCA361136713SIL1c.1189G>C (p.Val397Leu)
c.1210G>C (p.Val404Leu)
n.524G>C
c.1219G>C (p.Val407Leu)
5g.138947314C>TCA361136714SIL1c.1189G>A (p.Val397Met)
c.1210G>A (p.Val404Met)
n.524G>A
c.1219G>A (p.Val407Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched