Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.121845499C>TCA2671948529BBS7c.1230+5G>A (n.1230+5G>A)
c.1233+5G>A (n.1233+5G>A)
c.1278+5G>A (n.1278+5G>A)
c.1275+5G>A (n.1275+5G>A)
 gnomAD v4
4g.121845500T>ACA1067451320BBS7c.1230+4A>T (n.1230+4A>T)
c.1233+4A>T (n.1233+4A>T)
c.1278+4A>T (n.1278+4A>T)
c.1275+4A>T (n.1275+4A>T)
 dbSNP gnomAD v3 gnomAD v4
4g.121845500T=CA1490022284BBS7c.1230+4A= (n.1230+4A=)
c.1233+4A= (n.1233+4A=)
c.1278+4A= (n.1278+4A=)
c.1275+4A= (n.1275+4A=)
4g.121845501T>CCA1067451328BBS7c.1230+3A>G (n.1230+3A>G)
c.1233+3A>G (n.1233+3A>G)
c.1278+3A>G (n.1278+3A>G)
c.1275+3A>G (n.1275+3A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.121845501T=CA1490022285BBS7c.1230+3A= (n.1230+3A=)
c.1233+3A= (n.1233+3A=)
c.1278+3A= (n.1278+3A=)
c.1275+3A= (n.1275+3A=)
4g.121845502A>CCA358061788BBS7c.1230+2T>G (n.1230+2T>G)
c.1233+2T>G (n.1233+2T>G)
c.1278+2T>G (n.1278+2T>G)
c.1275+2T>G (n.1275+2T>G)
4g.121845502A>GCA358061789BBS7c.1230+2T>C (n.1230+2T>C)
c.1233+2T>C (n.1233+2T>C)
c.1278+2T>C (n.1278+2T>C)
c.1275+2T>C (n.1275+2T>C)
4g.121845502A>TCA358061791BBS7c.1230+2T>A (n.1230+2T>A)
c.1233+2T>A (n.1233+2T>A)
c.1278+2T>A (n.1278+2T>A)
c.1275+2T>A (n.1275+2T>A)
4g.121845503C>ACA358061794BBS7c.1230+1G>T (n.1230+1G>T)
c.1233+1G>T (n.1233+1G>T)
c.1278+1G>T (n.1278+1G>T)
c.1275+1G>T (n.1275+1G>T)
4g.121845503C>GCA358061795BBS7c.1230+1G>C (n.1230+1G>C)
c.1233+1G>C (n.1233+1G>C)
c.1278+1G>C (n.1278+1G>C)
c.1275+1G>C (n.1275+1G>C)
4g.121845503C>TCA358061796BBS7c.1230+1G>A (n.1230+1G>A)
c.1233+1G>A (n.1233+1G>A)
c.1278+1G>A (n.1278+1G>A)
c.1275+1G>A (n.1275+1G>A)
 COSMIC
4g.121845504C>ACA358061798BBS7c.1230G>T (p.Gln410His)
c.1233G>T (p.Gln411His)
c.1278G>T (p.Gln426His)
c.1275G>T (p.Gln425His)
4g.121845504C>GCA358061800BBS7c.1230G>C (p.Gln410His)
c.1233G>C (p.Gln411His)
c.1278G>C (p.Gln426His)
c.1275G>C (p.Gln425His)
 gnomAD v4
4g.121845504C>TCA440922020BBS7c.1230G>A (p.Gln410=)
c.1233G>A (p.Gln411=)
c.1278G>A (p.Gln426=)
c.1275G>A (p.Gln425=)
4g.121845505T>ACA358061802BBS7c.1229A>T (p.Gln410Leu)
c.1232A>T (p.Gln411Leu)
c.1277A>T (p.Gln426Leu)
c.1274A>T (p.Gln425Leu)
 gnomAD v4
4g.121845505T>CCA104762395BBS7c.1229A>G (p.Gln410Arg)
c.1232A>G (p.Gln411Arg)
c.1277A>G (p.Gln426Arg)
c.1274A>G (p.Gln425Arg)
 dbSNP gnomAD v4
4g.121845505T>GCA358061804BBS7c.1229A>C (p.Gln410Pro)
c.1232A>C (p.Gln411Pro)
c.1277A>C (p.Gln426Pro)
c.1274A>C (p.Gln425Pro)
4g.121845505T=CA1490022286BBS7c.1229A= (p.Gln410=)
c.1232A= (p.Gln411=)
c.1277A= (p.Gln426=)
c.1274A= (p.Gln425=)
4g.121845506G>ACA358061806BBS7c.1228C>T (p.Gln410Ter)
c.1231C>T (p.Gln411Ter)
c.1276C>T (p.Gln426Ter)
c.1273C>T (p.Gln425Ter)
 gnomAD v4 COSMIC
4g.121845506G>CCA358061808BBS7c.1228C>G (p.Gln410Glu)
c.1231C>G (p.Gln411Glu)
c.1276C>G (p.Gln426Glu)
c.1273C>G (p.Gln425Glu)
4g.121845506G>TCA358061810BBS7c.1228C>A (p.Gln410Lys)
c.1231C>A (p.Gln411Lys)
c.1276C>A (p.Gln426Lys)
c.1273C>A (p.Gln425Lys)
 gnomAD v4
4g.121845507T>ACA440922021BBS7c.1227A>T (p.Ile409=)
c.1230A>T (p.Ile410=)
c.1275A>T (p.Ile425=)
c.1272A>T (p.Ile424=)
4g.121845507T>CCA3064301BBS7c.1227A>G (p.Ile409Met)
c.1230A>G (p.Ile410Met)
c.1275A>G (p.Ile425Met)
c.1272A>G (p.Ile424Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.121845507T>GCA440922022BBS7c.1227A>C (p.Ile409=)
c.1230A>C (p.Ile410=)
c.1275A>C (p.Ile425=)
c.1272A>C (p.Ile424=)
4g.121845507T=CA1490022287BBS7c.1227A= (p.Ile409=)
c.1230A= (p.Ile410=)
c.1275A= (p.Ile425=)
c.1272A= (p.Ile424=)
4g.121845508A>CCA358061813BBS7c.1226T>G (p.Ile409Arg)
c.1229T>G (p.Ile410Arg)
c.1274T>G (p.Ile425Arg)
c.1271T>G (p.Ile424Arg)
4g.121845508A>GCA358061814BBS7c.1226T>C (p.Ile409Thr)
c.1229T>C (p.Ile410Thr)
c.1274T>C (p.Ile425Thr)
c.1271T>C (p.Ile424Thr)
4g.121845508A>TCA358061816BBS7c.1226T>A (p.Ile409Lys)
c.1229T>A (p.Ile410Lys)
c.1274T>A (p.Ile425Lys)
c.1271T>A (p.Ile424Lys)
4g.121845509T>ACA358061818BBS7c.1225A>T (p.Ile409Leu)
c.1228A>T (p.Ile410Leu)
c.1273A>T (p.Ile425Leu)
c.1270A>T (p.Ile424Leu)
4g.121845509T>CCA358061820BBS7c.1225A>G (p.Ile409Val)
c.1228A>G (p.Ile410Val)
c.1273A>G (p.Ile425Val)
c.1270A>G (p.Ile424Val)
4g.121845509T>GCA358061821BBS7c.1225A>C (p.Ile409Leu)
c.1228A>C (p.Ile410Leu)
c.1273A>C (p.Ile425Leu)
c.1270A>C (p.Ile424Leu)
4g.121845510T>ACA358061823BBS7c.1224A>T (p.Leu408Phe)
c.1227A>T (p.Leu409Phe)
c.1272A>T (p.Leu424Phe)
c.1269A>T (p.Leu423Phe)
4g.121845510T>CCA440922023BBS7c.1224A>G (p.Leu408=)
c.1227A>G (p.Leu409=)
c.1272A>G (p.Leu424=)
c.1269A>G (p.Leu423=)
4g.121845510T>GCA358061825BBS7c.1224A>C (p.Leu408Phe)
c.1227A>C (p.Leu409Phe)
c.1272A>C (p.Leu424Phe)
c.1269A>C (p.Leu423Phe)
 gnomAD v4
4g.121845511A>CCA358061831BBS7c.1223T>G (p.Leu408Ter)
c.1226T>G (p.Leu409Ter)
c.1271T>G (p.Leu424Ter)
c.1268T>G (p.Leu423Ter)
4g.121845511A>GCA358061827BBS7c.1223T>C (p.Leu408Ser)
c.1226T>C (p.Leu409Ser)
c.1271T>C (p.Leu424Ser)
c.1268T>C (p.Leu423Ser)
4g.121845511A>TCA358061829BBS7c.1223T>A (p.Leu408Ter)
c.1226T>A (p.Leu409Ter)
c.1271T>A (p.Leu424Ter)
c.1268T>A (p.Leu423Ter)
4g.121845512A>CCA358061832BBS7c.1222T>G (p.Leu408Val)
c.1225T>G (p.Leu409Val)
c.1270T>G (p.Leu424Val)
c.1267T>G (p.Leu423Val)
4g.121845512A>GCA440922024BBS7c.1222T>C (p.Leu408=)
c.1225T>C (p.Leu409=)
c.1270T>C (p.Leu424=)
c.1267T>C (p.Leu423=)
4g.121845512A>TCA358061834BBS7c.1222T>A (p.Leu408Ile)
c.1225T>A (p.Leu409Ile)
c.1270T>A (p.Leu424Ile)
c.1267T>A (p.Leu423Ile)
4g.121845513G>ACA440922025BBS7c.1221C>T (p.Val407=)
c.1224C>T (p.Val408=)
c.1269C>T (p.Val423=)
c.1266C>T (p.Val422=)
4g.121845513G>CCA440922026BBS7c.1221C>G (p.Val407=)
c.1224C>G (p.Val408=)
c.1269C>G (p.Val423=)
c.1266C>G (p.Val422=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.121845513G=CA1490022288BBS7c.1221C= (p.Val407=)
c.1224C= (p.Val408=)
c.1269C= (p.Val423=)
c.1266C= (p.Val422=)
4g.121845513G>TCA3064302BBS7c.1221C>A (p.Val407=)
c.1224C>A (p.Val408=)
c.1269C>A (p.Val423=)
c.1266C>A (p.Val422=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.121845514A>CCA358061837BBS7c.1220T>G (p.Val407Gly)
c.1223T>G (p.Val408Gly)
c.1268T>G (p.Val423Gly)
c.1265T>G (p.Val422Gly)
4g.121845514A>GCA358061838BBS7c.1220T>C (p.Val407Ala)
c.1223T>C (p.Val408Ala)
c.1268T>C (p.Val423Ala)
c.1265T>C (p.Val422Ala)
4g.121845514A>TCA358061840BBS7c.1220T>A (p.Val407Asp)
c.1223T>A (p.Val408Asp)
c.1268T>A (p.Val423Asp)
c.1265T>A (p.Val422Asp)
4g.121845515C>ACA358061842BBS7c.1219G>T (p.Val407Phe)
c.1222G>T (p.Val408Phe)
c.1267G>T (p.Val423Phe)
c.1264G>T (p.Val422Phe)
4g.121845515C=CA1490022289BBS7c.1219G= (p.Val407=)
c.1222G= (p.Val408=)
c.1267G= (p.Val423=)
c.1264G= (p.Val422=)
4g.121845515C>GCA358061844BBS7c.1219G>C (p.Val407Leu)
c.1222G>C (p.Val408Leu)
c.1267G>C (p.Val423Leu)
c.1264G>C (p.Val422Leu)
4g.121845515C>TCA3064303BBS7c.1219G>A (p.Val407Ile)
c.1222G>A (p.Val408Ile)
c.1267G>A (p.Val423Ile)
c.1264G>A (p.Val422Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121845515_121845517delinsCATCA1490022290BBS7c.1217_1219delinsATG (p.Asn406=)
c.1220_1222delinsATG (p.Asn407=)
c.1265_1267delinsATG (p.Asn422=)
c.1262_1264delinsATG (p.Asn421=)
4g.121845516A>CCA358061846BBS7c.1218T>G (p.Asn406Lys)
c.1221T>G (p.Asn407Lys)
c.1266T>G (p.Asn422Lys)
c.1263T>G (p.Asn421Lys)
4g.121845516A>GCA440922027BBS7c.1218T>C (p.Asn406=)
c.1221T>C (p.Asn407=)
c.1266T>C (p.Asn422=)
c.1263T>C (p.Asn421=)
 gnomAD v4
4g.121845516A>TCA358061848BBS7c.1218T>A (p.Asn406Lys)
c.1221T>A (p.Asn407Lys)
c.1266T>A (p.Asn422Lys)
c.1263T>A (p.Asn421Lys)
4g.121845516_121845517delCA1139658630BBS7c.1217_1218del (p.Asn406SerfsTer6)
c.1220_1221del (p.Asn407SerfsTer6)
c.1265_1266del (p.Asn422SerfsTer6)
c.1262_1263del (p.Asn421SerfsTer6)
 ClinVar dbSNP
4g.121845517T>ACA358061854BBS7c.1217A>T (p.Asn406Ile)
c.1220A>T (p.Asn407Ile)
c.1265A>T (p.Asn422Ile)
c.1262A>T (p.Asn421Ile)
4g.121845517T>CCA358061852BBS7c.1217A>G (p.Asn406Ser)
c.1220A>G (p.Asn407Ser)
c.1265A>G (p.Asn422Ser)
c.1262A>G (p.Asn421Ser)
4g.121845517T>GCA358061850BBS7c.1217A>C (p.Asn406Thr)
c.1220A>C (p.Asn407Thr)
c.1265A>C (p.Asn422Thr)
c.1262A>C (p.Asn421Thr)
4g.121845518T>ACA358061856BBS7c.1216A>T (p.Asn406Tyr)
c.1219A>T (p.Asn407Tyr)
c.1264A>T (p.Asn422Tyr)
c.1261A>T (p.Asn421Tyr)
4g.121845518T>CCA358061857BBS7c.1216A>G (p.Asn406Asp)
c.1219A>G (p.Asn407Asp)
c.1264A>G (p.Asn422Asp)
c.1261A>G (p.Asn421Asp)
4g.121845518T>GCA358061859BBS7c.1216A>C (p.Asn406His)
c.1219A>C (p.Asn407His)
c.1264A>C (p.Asn422His)
c.1261A>C (p.Asn421His)
4g.121845519A>CCA358061861BBS7c.1215T>G (p.Asp405Glu)
c.1218T>G (p.Asp406Glu)
c.1263T>G (p.Asp421Glu)
c.1260T>G (p.Asp420Glu)
4g.121845519A>GCA440922028BBS7c.1215T>C (p.Asp405=)
c.1218T>C (p.Asp406=)
c.1263T>C (p.Asp421=)
c.1260T>C (p.Asp420=)
4g.121845519A>TCA358061863BBS7c.1215T>A (p.Asp405Glu)
c.1218T>A (p.Asp406Glu)
c.1263T>A (p.Asp421Glu)
c.1260T>A (p.Asp420Glu)
4g.121845520T>ACA358061865BBS7c.1214A>T (p.Asp405Val)
c.1217A>T (p.Asp406Val)
c.1262A>T (p.Asp421Val)
c.1259A>T (p.Asp420Val)
 gnomAD v4
4g.121845520T>CCA3064304BBS7c.1214A>G (p.Asp405Gly)
c.1217A>G (p.Asp406Gly)
c.1262A>G (p.Asp421Gly)
c.1259A>G (p.Asp420Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.121845520T>GCA358061867BBS7c.1214A>C (p.Asp405Ala)
c.1217A>C (p.Asp406Ala)
c.1262A>C (p.Asp421Ala)
c.1259A>C (p.Asp420Ala)
4g.121845520T=CA1490022291BBS7c.1214A= (p.Asp405=)
c.1217A= (p.Asp406=)
c.1262A= (p.Asp421=)
c.1259A= (p.Asp420=)
4g.121845521C>ACA358061869BBS7c.1213G>T (p.Asp405Tyr)
c.1216G>T (p.Asp406Tyr)
c.1261G>T (p.Asp421Tyr)
c.1258G>T (p.Asp420Tyr)
4g.121845521C>GCA358061871BBS7c.1213G>C (p.Asp405His)
c.1216G>C (p.Asp406His)
c.1261G>C (p.Asp421His)
c.1258G>C (p.Asp420His)
 COSMIC
4g.121845521C>TCA358061873BBS7c.1213G>A (p.Asp405Asn)
c.1216G>A (p.Asp406Asn)
c.1261G>A (p.Asp421Asn)
c.1258G>A (p.Asp420Asn)
4g.121845522T>ACA440922030BBS7c.1212A>T (p.Ile404=)
c.1215A>T (p.Ile405=)
c.1260A>T (p.Ile420=)
c.1257A>T (p.Ile419=)
4g.121845522T>CCA358061875BBS7c.1212A>G (p.Ile404Met)
c.1215A>G (p.Ile405Met)
c.1260A>G (p.Ile420Met)
c.1257A>G (p.Ile419Met)
4g.121845522T>GCA440922029BBS7c.1212A>C (p.Ile404=)
c.1215A>C (p.Ile405=)
c.1260A>C (p.Ile420=)
c.1257A>C (p.Ile419=)
4g.121845523A=CA1490022292BBS7c.1211T= (p.Ile404=)
c.1214T= (p.Ile405=)
c.1259T= (p.Ile420=)
c.1256T= (p.Ile419=)
4g.121845523A>CCA358061880BBS7c.1211T>G (p.Ile404Arg)
c.1214T>G (p.Ile405Arg)
c.1259T>G (p.Ile420Arg)
c.1256T>G (p.Ile419Arg)
4g.121845523A>GCA104762421BBS7c.1211T>C (p.Ile404Thr)
c.1214T>C (p.Ile405Thr)
c.1259T>C (p.Ile420Thr)
c.1256T>C (p.Ile419Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121845523A>TCA358061877BBS7c.1211T>A (p.Ile404Lys)
c.1214T>A (p.Ile405Lys)
c.1259T>A (p.Ile420Lys)
c.1256T>A (p.Ile419Lys)
4g.121845524T>ACA358061882BBS7c.1210A>T (p.Ile404Leu)
c.1213A>T (p.Ile405Leu)
c.1258A>T (p.Ile420Leu)
c.1255A>T (p.Ile419Leu)
4g.121845524T>CCA358061884BBS7c.1210A>G (p.Ile404Val)
c.1213A>G (p.Ile405Val)
c.1258A>G (p.Ile420Val)
c.1255A>G (p.Ile419Val)
4g.121845524T>GCA358061886BBS7c.1210A>C (p.Ile404Leu)
c.1213A>C (p.Ile405Leu)
c.1258A>C (p.Ile420Leu)
c.1255A>C (p.Ile419Leu)
4g.121845525T>ACA440922032BBS7c.1209A>T (p.Ala403=)
c.1212A>T (p.Ala404=)
c.1257A>T (p.Ala419=)
c.1254A>T (p.Ala418=)
4g.121845525T>CCA440922034BBS7c.1209A>G (p.Ala403=)
c.1212A>G (p.Ala404=)
c.1257A>G (p.Ala419=)
c.1254A>G (p.Ala418=)
4g.121845525T>GCA440922033BBS7c.1209A>C (p.Ala403=)
c.1212A>C (p.Ala404=)
c.1257A>C (p.Ala419=)
c.1254A>C (p.Ala418=)
 gnomAD v4
4g.121845526G>ACA358061887BBS7c.1208C>T (p.Ala403Val)
c.1211C>T (p.Ala404Val)
c.1256C>T (p.Ala419Val)
c.1253C>T (p.Ala418Val)
4g.121845526G>CCA358061889BBS7c.1208C>G (p.Ala403Gly)
c.1211C>G (p.Ala404Gly)
c.1256C>G (p.Ala419Gly)
c.1253C>G (p.Ala418Gly)
4g.121845526G>TCA358061890BBS7c.1208C>A (p.Ala403Glu)
c.1211C>A (p.Ala404Glu)
c.1256C>A (p.Ala419Glu)
c.1253C>A (p.Ala418Glu)
4g.121845527C>ACA358061892BBS7c.1207G>T (p.Ala403Ser)
c.1210G>T (p.Ala404Ser)
c.1255G>T (p.Ala419Ser)
c.1252G>T (p.Ala418Ser)
4g.121845527C=CA1490022293BBS7c.1207G= (p.Ala403=)
c.1210G= (p.Ala404=)
c.1255G= (p.Ala419=)
c.1252G= (p.Ala418=)
4g.121845527C>GCA358061894BBS7c.1207G>C (p.Ala403Pro)
c.1210G>C (p.Ala404Pro)
c.1255G>C (p.Ala419Pro)
c.1252G>C (p.Ala418Pro)
4g.121845527C>TCA3064305BBS7c.1207G>A (p.Ala403Thr)
c.1210G>A (p.Ala404Thr)
c.1255G>A (p.Ala419Thr)
c.1252G>A (p.Ala418Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.121845528A>CCA440922035BBS7c.1206T>G (p.Thr402=)
c.1209T>G (p.Thr403=)
c.1254T>G (p.Thr418=)
c.1251T>G (p.Thr417=)
4g.121845528A>GCA440922036BBS7c.1206T>C (p.Thr402=)
c.1209T>C (p.Thr403=)
c.1254T>C (p.Thr418=)
c.1251T>C (p.Thr417=)
4g.121845528A>TCA440922037BBS7c.1206T>A (p.Thr402=)
c.1209T>A (p.Thr403=)
c.1254T>A (p.Thr418=)
c.1251T>A (p.Thr417=)
4g.121845529G>ACA358061896BBS7c.1205C>T (p.Thr402Ile)
c.1208C>T (p.Thr403Ile)
c.1253C>T (p.Thr418Ile)
c.1250C>T (p.Thr417Ile)
 gnomAD v4
4g.121845529G>CCA358061898BBS7c.1205C>G (p.Thr402Ser)
c.1208C>G (p.Thr403Ser)
c.1253C>G (p.Thr418Ser)
c.1250C>G (p.Thr417Ser)
4g.121845529G>TCA358061900BBS7c.1205C>A (p.Thr402Asn)
c.1208C>A (p.Thr403Asn)
c.1253C>A (p.Thr418Asn)
c.1250C>A (p.Thr417Asn)
 gnomAD v4
4g.121845530T>ACA358061906BBS7c.1204A>T (p.Thr402Ser)
c.1207A>T (p.Thr403Ser)
c.1252A>T (p.Thr418Ser)
c.1249A>T (p.Thr417Ser)
4g.121845530T>CCA358061904BBS7c.1204A>G (p.Thr402Ala)
c.1207A>G (p.Thr403Ala)
c.1252A>G (p.Thr418Ala)
c.1249A>G (p.Thr417Ala)
4g.121845530T>GCA358061902BBS7c.1204A>C (p.Thr402Pro)
c.1207A>C (p.Thr403Pro)
c.1252A>C (p.Thr418Pro)
c.1249A>C (p.Thr417Pro)
4g.121845531C>ACA358061908BBS7c.1203G>T (p.Gln401His)
c.1206G>T (p.Gln402His)
c.1251G>T (p.Gln417His)
c.1248G>T (p.Gln416His)
4g.121845531C>GCA358061910BBS7c.1203G>C (p.Gln401His)
c.1206G>C (p.Gln402His)
c.1251G>C (p.Gln417His)
c.1248G>C (p.Gln416His)
4g.121845531C>TCA440922040BBS7c.1203G>A (p.Gln401=)
c.1206G>A (p.Gln402=)
c.1251G>A (p.Gln417=)
c.1248G>A (p.Gln416=)
4g.121845532T>ACA358061912BBS7c.1202A>T (p.Gln401Leu)
c.1205A>T (p.Gln402Leu)
c.1250A>T (p.Gln417Leu)
c.1247A>T (p.Gln416Leu)
4g.121845532T>CCA358061915BBS7c.1202A>G (p.Gln401Arg)
c.1205A>G (p.Gln402Arg)
c.1250A>G (p.Gln417Arg)
c.1247A>G (p.Gln416Arg)
4g.121845532T>GCA358061913BBS7c.1202A>C (p.Gln401Pro)
c.1205A>C (p.Gln402Pro)
c.1250A>C (p.Gln417Pro)
c.1247A>C (p.Gln416Pro)
4g.121845533G>ACA358061917BBS7c.1201C>T (p.Gln401Ter)
c.1204C>T (p.Gln402Ter)
c.1249C>T (p.Gln417Ter)
c.1246C>T (p.Gln416Ter)
 ClinVar
4g.121845533G>CCA358061918BBS7c.1201C>G (p.Gln401Glu)
c.1204C>G (p.Gln402Glu)
c.1249C>G (p.Gln417Glu)
c.1246C>G (p.Gln416Glu)
4g.121845533G=CA1490022294BBS7c.1201C= (p.Gln401=)
c.1204C= (p.Gln402=)
c.1249C= (p.Gln417=)
c.1246C= (p.Gln416=)
4g.121845533G>TCA3064306BBS7c.1201C>A (p.Gln401Lys)
c.1204C>A (p.Gln402Lys)
c.1249C>A (p.Gln417Lys)
c.1246C>A (p.Gln416Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121845534T>ACA440922042BBS7c.1200A>T (p.Val400=)
c.1203A>T (p.Val401=)
c.1248A>T (p.Val416=)
c.1245A>T (p.Val415=)
4g.121845534T>CCA440922043BBS7c.1200A>G (p.Val400=)
c.1203A>G (p.Val401=)
c.1248A>G (p.Val416=)
c.1245A>G (p.Val415=)
 dbSNP gnomAD v2 gnomAD v4
4g.121845534T>GCA440922044BBS7c.1200A>C (p.Val400=)
c.1203A>C (p.Val401=)
c.1248A>C (p.Val416=)
c.1245A>C (p.Val415=)
4g.121845534T=CA1490022295BBS7c.1200A= (p.Val400=)
c.1203A= (p.Val401=)
c.1248A= (p.Val416=)
c.1245A= (p.Val415=)
4g.121845535A>CCA358061921BBS7c.1199T>G (p.Val400Gly)
c.1202T>G (p.Val401Gly)
c.1247T>G (p.Val416Gly)
c.1244T>G (p.Val415Gly)
4g.121845535A>GCA358061923BBS7c.1199T>C (p.Val400Ala)
c.1202T>C (p.Val401Ala)
c.1247T>C (p.Val416Ala)
c.1244T>C (p.Val415Ala)
4g.121845535A>TCA358061925BBS7c.1199T>A (p.Val400Glu)
c.1202T>A (p.Val401Glu)
c.1247T>A (p.Val416Glu)
c.1244T>A (p.Val415Glu)
4g.121845536C>ACA358061927BBS7c.1198G>T (p.Val400Leu)
c.1201G>T (p.Val401Leu)
c.1246G>T (p.Val416Leu)
c.1243G>T (p.Val415Leu)
4g.121845536C=CA1490022296BBS7c.1198G= (p.Val400=)
c.1201G= (p.Val401=)
c.1246G= (p.Val416=)
c.1243G= (p.Val415=)
4g.121845536C>GCA358061928BBS7c.1198G>C (p.Val400Leu)
c.1201G>C (p.Val401Leu)
c.1246G>C (p.Val416Leu)
c.1243G>C (p.Val415Leu)
4g.121845536C>TCA3064307BBS7c.1198G>A (p.Val400Ile)
c.1201G>A (p.Val401Ile)
c.1246G>A (p.Val416Ile)
c.1243G>A (p.Val415Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.121845537C>ACA358061931BBS7c.1197G>T (p.Glu399Asp)
c.1200G>T (p.Glu400Asp)
c.1245G>T (p.Glu415Asp)
c.1242G>T (p.Glu414Asp)
4g.121845537C=CA1490022297BBS7c.1197G= (p.Glu399=)
c.1200G= (p.Glu400=)
c.1245G= (p.Glu415=)
c.1242G= (p.Glu414=)
4g.121845537C>GCA358061933BBS7c.1197G>C (p.Glu399Asp)
c.1200G>C (p.Glu400Asp)
c.1245G>C (p.Glu415Asp)
c.1242G>C (p.Glu414Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121845537C>TCA440922046BBS7c.1197G>A (p.Glu399=)
c.1200G>A (p.Glu400=)
c.1245G>A (p.Glu415=)
c.1242G>A (p.Glu414=)
4g.121845538T>ACA358061939BBS7c.1196A>T (p.Glu399Val)
c.1199A>T (p.Glu400Val)
c.1244A>T (p.Glu415Val)
c.1241A>T (p.Glu414Val)
4g.121845538T>CCA358061937BBS7c.1196A>G (p.Glu399Gly)
c.1199A>G (p.Glu400Gly)
c.1244A>G (p.Glu415Gly)
c.1241A>G (p.Glu414Gly)
4g.121845538T>GCA358061935BBS7c.1196A>C (p.Glu399Ala)
c.1199A>C (p.Glu400Ala)
c.1244A>C (p.Glu415Ala)
c.1241A>C (p.Glu414Ala)
 dbSNP gnomAD v2 gnomAD v4
4g.121845538T=CA1490022298BBS7c.1196A= (p.Glu399=)
c.1199A= (p.Glu400=)
c.1244A= (p.Glu415=)
c.1241A= (p.Glu414=)
4g.121845539C>ACA358061941BBS7c.1195G>T (p.Glu399Ter)
c.1198G>T (p.Glu400Ter)
c.1243G>T (p.Glu415Ter)
c.1240G>T (p.Glu414Ter)
4g.121845539C>GCA358061943BBS7c.1195G>C (p.Glu399Gln)
c.1198G>C (p.Glu400Gln)
c.1243G>C (p.Glu415Gln)
c.1240G>C (p.Glu414Gln)
4g.121845539C>TCA358061945BBS7c.1195G>A (p.Glu399Lys)
c.1198G>A (p.Glu400Lys)
c.1243G>A (p.Glu415Lys)
c.1240G>A (p.Glu414Lys)
4g.121845540T>ACA358061947BBS7c.1194A>T (p.Leu398Phe)
c.1197A>T (p.Leu399Phe)
c.1242A>T (p.Leu414Phe)
c.1239A>T (p.Leu413Phe)
4g.121845540T>CCA440922049BBS7c.1194A>G (p.Leu398=)
c.1197A>G (p.Leu399=)
c.1242A>G (p.Leu414=)
c.1239A>G (p.Leu413=)
4g.121845540T>GCA358061949BBS7c.1194A>C (p.Leu398Phe)
c.1197A>C (p.Leu399Phe)
c.1242A>C (p.Leu414Phe)
c.1239A>C (p.Leu413Phe)
4g.121845544_121845548delCA2695198516BBS7c.1190_1194del (p.Ile397ArgfsTer8)
c.1193_1197del (p.Ile398ArgfsTer8)
c.1238_1242del (p.Ile413ArgfsTer8)
c.1235_1239del (p.Ile412ArgfsTer8)
 ClinVar
4g.121845541A>CCA358061951BBS7c.1193T>G (p.Leu398Ter)
c.1196T>G (p.Leu399Ter)
c.1241T>G (p.Leu414Ter)
c.1238T>G (p.Leu413Ter)
4g.121845541A>GCA358061952BBS7c.1193T>C (p.Leu398Ser)
c.1196T>C (p.Leu399Ser)
c.1241T>C (p.Leu414Ser)
c.1238T>C (p.Leu413Ser)
4g.121845541A>TCA358061954BBS7c.1193T>A (p.Leu398Ter)
c.1196T>A (p.Leu399Ter)
c.1241T>A (p.Leu414Ter)
c.1238T>A (p.Leu413Ter)
4g.121845542A>CCA358061956BBS7c.1192T>G (p.Leu398Val)
c.1195T>G (p.Leu399Val)
c.1240T>G (p.Leu414Val)
c.1237T>G (p.Leu413Val)
4g.121845542A>GCA440922051BBS7c.1192T>C (p.Leu398=)
c.1195T>C (p.Leu399=)
c.1240T>C (p.Leu414=)
c.1237T>C (p.Leu413=)
4g.121845542A>TCA358061957BBS7c.1192T>A (p.Leu398Ile)
c.1195T>A (p.Leu399Ile)
c.1240T>A (p.Leu414Ile)
c.1237T>A (p.Leu413Ile)
4g.121845543G>ACA3064308BBS7c.1191C>T (p.Ile397=)
c.1194C>T (p.Ile398=)
c.1239C>T (p.Ile413=)
c.1236C>T (p.Ile412=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121845543G>CCA358061961BBS7c.1191C>G (p.Ile397Met)
c.1194C>G (p.Ile398Met)
c.1239C>G (p.Ile413Met)
c.1236C>G (p.Ile412Met)
4g.121845543G=CA1490022299BBS7c.1191C= (p.Ile397=)
c.1194C= (p.Ile398=)
c.1239C= (p.Ile413=)
c.1236C= (p.Ile412=)
4g.121845543G>TCA440922052BBS7c.1191C>A (p.Ile397=)
c.1194C>A (p.Ile398=)
c.1239C>A (p.Ile413=)
c.1236C>A (p.Ile412=)
4g.121845544A=CA1490022300BBS7c.1190T= (p.Ile397=)
c.1193T= (p.Ile398=)
c.1238T= (p.Ile413=)
c.1235T= (p.Ile412=)
4g.121845544A>CCA358061966BBS7c.1190T>G (p.Ile397Ser)
c.1193T>G (p.Ile398Ser)
c.1238T>G (p.Ile413Ser)
c.1235T>G (p.Ile412Ser)
4g.121845544A>GCA358061965BBS7c.1190T>C (p.Ile397Thr)
c.1193T>C (p.Ile398Thr)
c.1238T>C (p.Ile413Thr)
c.1235T>C (p.Ile412Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.121845544A>TCA358061963BBS7c.1190T>A (p.Ile397Asn)
c.1193T>A (p.Ile398Asn)
c.1238T>A (p.Ile413Asn)
c.1235T>A (p.Ile412Asn)
4g.121845545T>ACA358061968BBS7c.1189A>T (p.Ile397Phe)
c.1192A>T (p.Ile398Phe)
c.1237A>T (p.Ile413Phe)
c.1234A>T (p.Ile412Phe)
4g.121845545T>CCA358061971BBS7c.1189A>G (p.Ile397Val)
c.1192A>G (p.Ile398Val)
c.1237A>G (p.Ile413Val)
c.1234A>G (p.Ile412Val)
4g.121845545T>GCA358061973BBS7c.1189A>C (p.Ile397Leu)
c.1192A>C (p.Ile398Leu)
c.1237A>C (p.Ile413Leu)
c.1234A>C (p.Ile412Leu)
4g.121845546A>CCA440922054BBS7c.1188T>G (p.Leu396=)
c.1191T>G (p.Leu397=)
c.1236T>G (p.Leu412=)
c.1233T>G (p.Leu411=)
4g.121845546A>GCA440922056BBS7c.1188T>C (p.Leu396=)
c.1191T>C (p.Leu397=)
c.1236T>C (p.Leu412=)
c.1233T>C (p.Leu411=)
4g.121845546A>TCA440922055BBS7c.1188T>A (p.Leu396=)
c.1191T>A (p.Leu397=)
c.1236T>A (p.Leu412=)
c.1233T>A (p.Leu411=)
4g.121845547A>CCA358061975BBS7c.1187T>G (p.Leu396Arg)
c.1190T>G (p.Leu397Arg)
c.1235T>G (p.Leu412Arg)
c.1232T>G (p.Leu411Arg)
4g.121845547A>GCA358061978BBS7c.1187T>C (p.Leu396Pro)
c.1190T>C (p.Leu397Pro)
c.1235T>C (p.Leu412Pro)
c.1232T>C (p.Leu411Pro)
4g.121845547A>TCA358061980BBS7c.1187T>A (p.Leu396His)
c.1190T>A (p.Leu397His)
c.1235T>A (p.Leu412His)
c.1232T>A (p.Leu411His)
4g.121845548G>ACA358061985BBS7c.1186C>T (p.Leu396Phe)
c.1189C>T (p.Leu397Phe)
c.1234C>T (p.Leu412Phe)
c.1231C>T (p.Leu411Phe)
 gnomAD v4
4g.121845548G>CCA358061982BBS7c.1186C>G (p.Leu396Val)
c.1189C>G (p.Leu397Val)
c.1234C>G (p.Leu412Val)
c.1231C>G (p.Leu411Val)
4g.121845548G>TCA358061983BBS7c.1186C>A (p.Leu396Ile)
c.1189C>A (p.Leu397Ile)
c.1234C>A (p.Leu412Ile)
c.1231C>A (p.Leu411Ile)
4g.121845549G>ACA440922057BBS7c.1185C>T (p.Ser395=)
c.1188C>T (p.Ser396=)
c.1233C>T (p.Ser411=)
c.1230C>T (p.Ser410=)
4g.121845549G>CCA358061987BBS7c.1185C>G (p.Ser395Arg)
c.1188C>G (p.Ser396Arg)
c.1233C>G (p.Ser411Arg)
c.1230C>G (p.Ser410Arg)
4g.121845549G>TCA358061988BBS7c.1185C>A (p.Ser395Arg)
c.1188C>A (p.Ser396Arg)
c.1233C>A (p.Ser411Arg)
c.1230C>A (p.Ser410Arg)
4g.121845550C>ACA358061989BBS7c.1184G>T (p.Ser395Ile)
c.1187G>T (p.Ser396Ile)
c.1232G>T (p.Ser411Ile)
c.1229G>T (p.Ser410Ile)
4g.121845550C=CA1490022301BBS7c.1184G= (p.Ser395=)
c.1187G= (p.Ser396=)
c.1232G= (p.Ser411=)
c.1229G= (p.Ser410=)
4g.121845550C>GCA358061991BBS7c.1184G>C (p.Ser395Thr)
c.1187G>C (p.Ser396Thr)
c.1232G>C (p.Ser411Thr)
c.1229G>C (p.Ser410Thr)
4g.121845550C>TCA104762467BBS7c.1184G>A (p.Ser395Asn)
c.1187G>A (p.Ser396Asn)
c.1232G>A (p.Ser411Asn)
c.1229G>A (p.Ser410Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121845551T>ACA358061996BBS7c.1183A>T (p.Ser395Cys)
c.1186A>T (p.Ser396Cys)
c.1231A>T (p.Ser411Cys)
c.1228A>T (p.Ser410Cys)
4g.121845551T>CCA3064309BBS7c.1183A>G (p.Ser395Gly)
c.1186A>G (p.Ser396Gly)
c.1231A>G (p.Ser411Gly)
c.1228A>G (p.Ser410Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121845551T>GCA358061998BBS7c.1183A>C (p.Ser395Arg)
c.1186A>C (p.Ser396Arg)
c.1231A>C (p.Ser411Arg)
c.1228A>C (p.Ser410Arg)
4g.121845551T=CA1490022302BBS7c.1183A= (p.Ser395=)
c.1186A= (p.Ser396=)
c.1231A= (p.Ser411=)
c.1228A= (p.Ser410=)
4g.121845552G>ACA440922061BBS7c.1182C>T (p.Tyr394=)
c.1185C>T (p.Tyr395=)
c.1230C>T (p.Tyr410=)
c.1227C>T (p.Tyr409=)
 dbSNP
4g.121845552G>CCA358062001BBS7c.1182C>G (p.Tyr394Ter)
c.1185C>G (p.Tyr395Ter)
c.1230C>G (p.Tyr410Ter)
c.1227C>G (p.Tyr409Ter)
4g.121845552G=CA1490022303BBS7c.1182C= (p.Tyr394=)
c.1185C= (p.Tyr395=)
c.1230C= (p.Tyr410=)
c.1227C= (p.Tyr409=)
4g.121845552G>TCA358062003BBS7c.1182C>A (p.Tyr394Ter)
c.1185C>A (p.Tyr395Ter)
c.1230C>A (p.Tyr410Ter)
c.1227C>A (p.Tyr409Ter)
4g.121845553T>ACA358062005BBS7c.1181A>T (p.Tyr394Phe)
c.1184A>T (p.Tyr395Phe)
c.1229A>T (p.Tyr410Phe)
c.1226A>T (p.Tyr409Phe)
4g.121845553T>CCA358062006BBS7c.1181A>G (p.Tyr394Cys)
c.1184A>G (p.Tyr395Cys)
c.1229A>G (p.Tyr410Cys)
c.1226A>G (p.Tyr409Cys)
4g.121845553T>GCA358062007BBS7c.1181A>C (p.Tyr394Ser)
c.1184A>C (p.Tyr395Ser)
c.1229A>C (p.Tyr410Ser)
c.1226A>C (p.Tyr409Ser)
4g.121845554A>CCA358062008BBS7c.1180T>G (p.Tyr394Asp)
c.1183T>G (p.Tyr395Asp)
c.1228T>G (p.Tyr410Asp)
c.1225T>G (p.Tyr409Asp)
4g.121845554A>GCA358062009BBS7c.1180T>C (p.Tyr394His)
c.1183T>C (p.Tyr395His)
c.1228T>C (p.Tyr410His)
c.1225T>C (p.Tyr409His)
4g.121845554A>TCA358062013BBS7c.1180T>A (p.Tyr394Asn)
c.1183T>A (p.Tyr395Asn)
c.1228T>A (p.Tyr410Asn)
c.1225T>A (p.Tyr409Asn)
4g.121845555A>CCA358062024BBS7c.1179T>G (p.Ser393Arg)
c.1182T>G (p.Ser394Arg)
c.1227T>G (p.Ser409Arg)
c.1224T>G (p.Ser408Arg)
4g.121845555A>GCA440922063BBS7c.1179T>C (p.Ser393=)
c.1182T>C (p.Ser394=)
c.1227T>C (p.Ser409=)
c.1224T>C (p.Ser408=)
4g.121845555A>TCA358062027BBS7c.1179T>A (p.Ser393Arg)
c.1182T>A (p.Ser394Arg)
c.1227T>A (p.Ser409Arg)
c.1224T>A (p.Ser408Arg)
4g.121845556C>ACA358062031BBS7c.1178G>T (p.Ser393Ile)
c.1181G>T (p.Ser394Ile)
c.1226G>T (p.Ser409Ile)
c.1223G>T (p.Ser408Ile)
4g.121845556C>GCA358062030BBS7c.1178G>C (p.Ser393Thr)
c.1181G>C (p.Ser394Thr)
c.1226G>C (p.Ser409Thr)
c.1223G>C (p.Ser408Thr)
4g.121845556C>TCA358062029BBS7c.1178G>A (p.Ser393Asn)
c.1181G>A (p.Ser394Asn)
c.1226G>A (p.Ser409Asn)
c.1223G>A (p.Ser408Asn)
 gnomAD v4
4g.121845557T>ACA358062032BBS7c.1177A>T (p.Ser393Cys)
c.1180A>T (p.Ser394Cys)
c.1225A>T (p.Ser409Cys)
c.1222A>T (p.Ser408Cys)
4g.121845557T>CCA358062033BBS7c.1177A>G (p.Ser393Gly)
c.1180A>G (p.Ser394Gly)
c.1225A>G (p.Ser409Gly)
c.1222A>G (p.Ser408Gly)
4g.121845557T>GCA358062034BBS7c.1177A>C (p.Ser393Arg)
c.1180A>C (p.Ser394Arg)
c.1225A>C (p.Ser409Arg)
c.1222A>C (p.Ser408Arg)
 gnomAD v4
4g.121845558G>ACA440922065BBS7c.1176C>T (p.Ala392=)
c.1179C>T (p.Ala393=)
c.1224C>T (p.Ala408=)
c.1221C>T (p.Ala407=)
 COSMIC
4g.121845558G>CCA440922066BBS7c.1176C>G (p.Ala392=)
c.1179C>G (p.Ala393=)
c.1224C>G (p.Ala408=)
c.1221C>G (p.Ala407=)
 dbSNP gnomAD v2 gnomAD v4
4g.121845558G=CA1490022304BBS7c.1176C= (p.Ala392=)
c.1179C= (p.Ala393=)
c.1224C= (p.Ala408=)
c.1221C= (p.Ala407=)
4g.121845558G>TCA440922067BBS7c.1176C>A (p.Ala392=)
c.1179C>A (p.Ala393=)
c.1224C>A (p.Ala408=)
c.1221C>A (p.Ala407=)
4g.121845559G>ACA358062035BBS7c.1175C>T (p.Ala392Val)
c.1178C>T (p.Ala393Val)
c.1223C>T (p.Ala408Val)
c.1220C>T (p.Ala407Val)
4g.121845559G>CCA358062036BBS7c.1175C>G (p.Ala392Gly)
c.1178C>G (p.Ala393Gly)
c.1223C>G (p.Ala408Gly)
c.1220C>G (p.Ala407Gly)
4g.121845559G=CA1490022305BBS7c.1175C= (p.Ala392=)
c.1178C= (p.Ala393=)
c.1223C= (p.Ala408=)
c.1220C= (p.Ala407=)
4g.121845559G>TCA358062037BBS7c.1175C>A (p.Ala392Asp)
c.1178C>A (p.Ala393Asp)
c.1223C>A (p.Ala408Asp)
c.1220C>A (p.Ala407Asp)
 dbSNP gnomAD v4
4g.121845560C>ACA358062045BBS7c.1174G>T (p.Ala392Ser)
c.1177G>T (p.Ala393Ser)
c.1222G>T (p.Ala408Ser)
c.1219G>T (p.Ala407Ser)
4g.121845560C=CA1490022306BBS7c.1174G= (p.Ala392=)
c.1177G= (p.Ala393=)
c.1222G= (p.Ala408=)
c.1219G= (p.Ala407=)
4g.121845560C>GCA358062043BBS7c.1174G>C (p.Ala392Pro)
c.1177G>C (p.Ala393Pro)
c.1222G>C (p.Ala408Pro)
c.1219G>C (p.Ala407Pro)
4g.121845560C>TCA3064310BBS7c.1174G>A (p.Ala392Thr)
c.1177G>A (p.Ala393Thr)
c.1222G>A (p.Ala408Thr)
c.1219G>A (p.Ala407Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121845561A=CA1490022307BBS7c.1173T= (p.Asp391=)
c.1176T= (p.Asp392=)
c.1221T= (p.Asp407=)
c.1218T= (p.Asp406=)
4g.121845561A>CCA358062047BBS7c.1173T>G (p.Asp391Glu)
c.1176T>G (p.Asp392Glu)
c.1221T>G (p.Asp407Glu)
c.1218T>G (p.Asp406Glu)
4g.121845561A>GCA440922068BBS7c.1173T>C (p.Asp391=)
c.1176T>C (p.Asp392=)
c.1221T>C (p.Asp407=)
c.1218T>C (p.Asp406=)
4g.121845561A>TCA358062049BBS7c.1173T>A (p.Asp391Glu)
c.1176T>A (p.Asp392Glu)
c.1221T>A (p.Asp407Glu)
c.1218T>A (p.Asp406Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121845562T>ACA358062051BBS7c.1172A>T (p.Asp391Val)
c.1175A>T (p.Asp392Val)
c.1220A>T (p.Asp407Val)
c.1217A>T (p.Asp406Val)
4g.121845562T>CCA358062052BBS7c.1172A>G (p.Asp391Gly)
c.1175A>G (p.Asp392Gly)
c.1220A>G (p.Asp407Gly)
c.1217A>G (p.Asp406Gly)
4g.121845562T>GCA358062053BBS7c.1172A>C (p.Asp391Ala)
c.1175A>C (p.Asp392Ala)
c.1220A>C (p.Asp407Ala)
c.1217A>C (p.Asp406Ala)
4g.121845563C>ACA358062059BBS7c.1171G>T (p.Asp391Tyr)
c.1174G>T (p.Asp392Tyr)
c.1219G>T (p.Asp407Tyr)
c.1216G>T (p.Asp406Tyr)
4g.121845563C>GCA358062055BBS7c.1171G>C (p.Asp391His)
c.1174G>C (p.Asp392His)
c.1219G>C (p.Asp407His)
c.1216G>C (p.Asp406His)
 gnomAD v4
4g.121845563C>TCA358062057BBS7c.1171G>A (p.Asp391Asn)
c.1174G>A (p.Asp392Asn)
c.1219G>A (p.Asp407Asn)
c.1216G>A (p.Asp406Asn)
4g.121845564A>CCA358062061BBS7c.1170T>G (p.Asp390Glu)
c.1173T>G (p.Asp391Glu)
c.1218T>G (p.Asp406Glu)
c.1215T>G (p.Asp405Glu)
4g.121845564A>GCA440922070BBS7c.1170T>C (p.Asp390=)
c.1173T>C (p.Asp391=)
c.1218T>C (p.Asp406=)
c.1215T>C (p.Asp405=)
4g.121845564A>TCA358062063BBS7c.1170T>A (p.Asp390Glu)
c.1173T>A (p.Asp391Glu)
c.1218T>A (p.Asp406Glu)
c.1215T>A (p.Asp405Glu)
 gnomAD v4
4g.121845565T>ACA358062064BBS7c.1169A>T (p.Asp390Val)
c.1172A>T (p.Asp391Val)
c.1217A>T (p.Asp406Val)
c.1214A>T (p.Asp405Val)
 gnomAD v4
4g.121845565T>CCA358062065BBS7c.1169A>G (p.Asp390Gly)
c.1172A>G (p.Asp391Gly)
c.1217A>G (p.Asp406Gly)
c.1214A>G (p.Asp405Gly)
4g.121845565T>GCA358062066BBS7c.1169A>C (p.Asp390Ala)
c.1172A>C (p.Asp391Ala)
c.1217A>C (p.Asp406Ala)
c.1214A>C (p.Asp405Ala)
4g.121845566C>ACA358062067BBS7c.1168G>T (p.Asp390Tyr)
c.1171G>T (p.Asp391Tyr)
c.1216G>T (p.Asp406Tyr)
c.1213G>T (p.Asp405Tyr)
4g.121845566C>GCA358062069BBS7c.1168G>C (p.Asp390His)
c.1171G>C (p.Asp391His)
c.1216G>C (p.Asp406His)
c.1213G>C (p.Asp405His)
4g.121845566C>TCA358062070BBS7c.1168G>A (p.Asp390Asn)
c.1171G>A (p.Asp391Asn)
c.1216G>A (p.Asp406Asn)
c.1213G>A (p.Asp405Asn)
4g.121845567T>ACA358062072BBS7c.1167A>T (p.Lys389Asn)
c.1170A>T (p.Lys390Asn)
c.1215A>T (p.Lys405Asn)
c.1212A>T (p.Lys404Asn)
4g.121845567T>CCA440922074BBS7c.1167A>G (p.Lys389=)
c.1170A>G (p.Lys390=)
c.1215A>G (p.Lys405=)
c.1212A>G (p.Lys404=)
4g.121845567T>GCA358062074BBS7c.1167A>C (p.Lys389Asn)
c.1170A>C (p.Lys390Asn)
c.1215A>C (p.Lys405Asn)
c.1212A>C (p.Lys404Asn)
4g.121845567_121845570delinsTTTACA1490022308BBS7c.1164_1167delinsTAAA (p.Asn388=)
c.1167_1170delinsTAAA (p.Asn389=)
c.1212_1215delinsTAAA (p.Asn404=)
c.1209_1212delinsTAAA (p.Asn403=)
4g.121845571_121845574delCA2578180943BBS7c.1164_1167del (p.Asn388LysfsTer10)
c.1167_1170del (p.Asn389LysfsTer10)
c.1212_1215del (p.Asn404LysfsTer10)
c.1209_1212del (p.Asn403LysfsTer10)
4g.121845568T>ACA358062076BBS7c.1166A>T (p.Lys389Ile)
c.1169A>T (p.Lys390Ile)
c.1214A>T (p.Lys405Ile)
c.1211A>T (p.Lys404Ile)
4g.121845568T>CCA358062078BBS7c.1166A>G (p.Lys389Arg)
c.1169A>G (p.Lys390Arg)
c.1214A>G (p.Lys405Arg)
c.1211A>G (p.Lys404Arg)
4g.121845568T>GCA358062082BBS7c.1166A>C (p.Lys389Thr)
c.1169A>C (p.Lys390Thr)
c.1214A>C (p.Lys405Thr)
c.1211A>C (p.Lys404Thr)
4g.121845570_121845572delCA554524295BBS7c.1164_1166del (p.Asn388del)
c.1167_1169del (p.Asn389del)
c.1212_1214del (p.Asn404del)
c.1209_1211del (p.Asn403del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121845569T>ACA358062085BBS7c.1165A>T (p.Lys389Ter)
c.1168A>T (p.Lys390Ter)
c.1213A>T (p.Lys405Ter)
c.1210A>T (p.Lys404Ter)
4g.121845569T>CCA358062091BBS7c.1165A>G (p.Lys389Glu)
c.1168A>G (p.Lys390Glu)
c.1213A>G (p.Lys405Glu)
c.1210A>G (p.Lys404Glu)
4g.121845569T>GCA358062089BBS7c.1165A>C (p.Lys389Gln)
c.1168A>C (p.Lys390Gln)
c.1213A>C (p.Lys405Gln)
c.1210A>C (p.Lys404Gln)
4g.121845570A=CA1490022309BBS7c.1164T= (p.Asn388=)
c.1167T= (p.Asn389=)
c.1212T= (p.Asn404=)
c.1209T= (p.Asn403=)
4g.121845570A>CCA358062092BBS7c.1164T>G (p.Asn388Lys)
c.1167T>G (p.Asn389Lys)
c.1212T>G (p.Asn404Lys)
c.1209T>G (p.Asn403Lys)
4g.121845570A>GCA440922078BBS7c.1164T>C (p.Asn388=)
c.1167T>C (p.Asn389=)
c.1212T>C (p.Asn404=)
c.1209T>C (p.Asn403=)
 dbSNP gnomAD v2 gnomAD v4
4g.121845570A>TCA358062094BBS7c.1164T>A (p.Asn388Lys)
c.1167T>A (p.Asn389Lys)
c.1212T>A (p.Asn404Lys)
c.1209T>A (p.Asn403Lys)
4g.121845571T>ACA358062097BBS7c.1163A>T (p.Asn388Ile)
c.1166A>T (p.Asn389Ile)
c.1211A>T (p.Asn404Ile)
c.1208A>T (p.Asn403Ile)
4g.121845571T>CCA3064311BBS7c.1163A>G (p.Asn388Ser)
c.1166A>G (p.Asn389Ser)
c.1211A>G (p.Asn404Ser)
c.1208A>G (p.Asn403Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121845571T>GCA358062100BBS7c.1163A>C (p.Asn388Thr)
c.1166A>C (p.Asn389Thr)
c.1211A>C (p.Asn404Thr)
c.1208A>C (p.Asn403Thr)
4g.121845571T=CA1490022310BBS7c.1163A= (p.Asn388=)
c.1166A= (p.Asn389=)
c.1211A= (p.Asn404=)
c.1208A= (p.Asn403=)
4g.121845572T>ACA358062103BBS7c.1162A>T (p.Asn388Tyr)
c.1165A>T (p.Asn389Tyr)
c.1210A>T (p.Asn404Tyr)
c.1207A>T (p.Asn403Tyr)
4g.121845572T>CCA358062104BBS7c.1162A>G (p.Asn388Asp)
c.1165A>G (p.Asn389Asp)
c.1210A>G (p.Asn404Asp)
c.1207A>G (p.Asn403Asp)
4g.121845572T>GCA358062105BBS7c.1162A>C (p.Asn388His)
c.1165A>C (p.Asn389His)
c.1210A>C (p.Asn404His)
c.1207A>C (p.Asn403His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121845572T=CA1490022311BBS7c.1162A= (p.Asn388=)
c.1165A= (p.Asn389=)
c.1210A= (p.Asn404=)
c.1207A= (p.Asn403=)
4g.121845573T>ACA440922080BBS7c.1161A>T (p.Leu387=)
c.1164A>T (p.Leu388=)
c.1209A>T (p.Leu403=)
c.1206A>T (p.Leu402=)
 dbSNP gnomAD v3 gnomAD v4
4g.121845573T>CCA440922082BBS7c.1161A>G (p.Leu387=)
c.1164A>G (p.Leu388=)
c.1209A>G (p.Leu403=)
c.1206A>G (p.Leu402=)
4g.121845573T>GCA440922081BBS7c.1161A>C (p.Leu387=)
c.1164A>C (p.Leu388=)
c.1209A>C (p.Leu403=)
c.1206A>C (p.Leu402=)
 gnomAD v4
4g.121845573T=CA1490022312BBS7c.1161A= (p.Leu387=)
c.1164A= (p.Leu388=)
c.1209A= (p.Leu403=)
c.1206A= (p.Leu402=)
4g.121845574A>CCA358062106BBS7c.1160T>G (p.Leu387Arg)
c.1163T>G (p.Leu388Arg)
c.1208T>G (p.Leu403Arg)
c.1205T>G (p.Leu402Arg)
 gnomAD v4
4g.121845574A>GCA358062107BBS7c.1160T>C (p.Leu387Pro)
c.1163T>C (p.Leu388Pro)
c.1208T>C (p.Leu403Pro)
c.1205T>C (p.Leu402Pro)
 ClinVar dbSNP
4g.121845574A>TCA358062108BBS7c.1160T>A (p.Leu387Gln)
c.1163T>A (p.Leu388Gln)
c.1208T>A (p.Leu403Gln)
c.1205T>A (p.Leu402Gln)
 gnomAD v4
4g.121845575G>ACA440922084BBS7c.1159C>T (p.Leu387=)
c.1162C>T (p.Leu388=)
c.1207C>T (p.Leu403=)
c.1204C>T (p.Leu402=)
 gnomAD v4
4g.121845575G>CCA358062109BBS7c.1159C>G (p.Leu387Val)
c.1162C>G (p.Leu388Val)
c.1207C>G (p.Leu403Val)
c.1204C>G (p.Leu402Val)
 dbSNP gnomAD v2
4g.121845575G=CA1490022313BBS7c.1159C= (p.Leu387=)
c.1162C= (p.Leu388=)
c.1207C= (p.Leu403=)
c.1204C= (p.Leu402=)
4g.121845575G>TCA358062111BBS7c.1159C>A (p.Leu387Ile)
c.1162C>A (p.Leu388Ile)
c.1207C>A (p.Leu403Ile)
c.1204C>A (p.Leu402Ile)
4g.121845576T>ACA3064313BBS7c.1158A>T (p.Thr386=)
c.1161A>T (p.Thr387=)
c.1206A>T (p.Thr402=)
c.1203A>T (p.Thr401=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121845576T>CCA3064312BBS7c.1158A>G (p.Thr386=)
c.1161A>G (p.Thr387=)
c.1206A>G (p.Thr402=)
c.1203A>G (p.Thr401=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121845576T>GCA440922086BBS7c.1158A>C (p.Thr386=)
c.1161A>C (p.Thr387=)
c.1206A>C (p.Thr402=)
c.1203A>C (p.Thr401=)
 ClinVar gnomAD v4
4g.121845576T=CA1490022314BBS7c.1158A= (p.Thr386=)
c.1161A= (p.Thr387=)
c.1206A= (p.Thr402=)
c.1203A= (p.Thr401=)
4g.121845577G>ACA358062114BBS7c.1157C>T (p.Thr386Ile)
c.1160C>T (p.Thr387Ile)
c.1205C>T (p.Thr402Ile)
c.1202C>T (p.Thr401Ile)
 gnomAD v4
4g.121845577G>CCA358062119BBS7c.1157C>G (p.Thr386Arg)
c.1160C>G (p.Thr387Arg)
c.1205C>G (p.Thr402Arg)
c.1202C>G (p.Thr401Arg)
4g.121845577G>TCA358062120BBS7c.1157C>A (p.Thr386Lys)
c.1160C>A (p.Thr387Lys)
c.1205C>A (p.Thr402Lys)
c.1202C>A (p.Thr401Lys)
 gnomAD v4
4g.121845578T>ACA358062123BBS7c.1156A>T (p.Thr386Ser)
c.1159A>T (p.Thr387Ser)
c.1204A>T (p.Thr402Ser)
c.1201A>T (p.Thr401Ser)
4g.121845578T>CCA358062127BBS7c.1156A>G (p.Thr386Ala)
c.1159A>G (p.Thr387Ala)
c.1204A>G (p.Thr402Ala)
c.1201A>G (p.Thr401Ala)
4g.121845578T>GCA358062130BBS7c.1156A>C (p.Thr386Pro)
c.1159A>C (p.Thr387Pro)
c.1204A>C (p.Thr402Pro)
c.1201A>C (p.Thr401Pro)
4g.121845579A>CCA358062131BBS7c.1155T>G (p.Phe385Leu)
c.1158T>G (p.Phe386Leu)
c.1203T>G (p.Phe401Leu)
c.1200T>G (p.Phe400Leu)
4g.121845579A>GCA440922088BBS7c.1155T>C (p.Phe385=)
c.1158T>C (p.Phe386=)
c.1203T>C (p.Phe401=)
c.1200T>C (p.Phe400=)
4g.121845579A>TCA358062132BBS7c.1155T>A (p.Phe385Leu)
c.1158T>A (p.Phe386Leu)
c.1203T>A (p.Phe401Leu)
c.1200T>A (p.Phe400Leu)
4g.121845580A>CCA358062133BBS7c.1154T>G (p.Phe385Cys)
c.1157T>G (p.Phe386Cys)
c.1202T>G (p.Phe401Cys)
c.1199T>G (p.Phe400Cys)
 COSMIC
4g.121845580A>GCA358062134BBS7c.1154T>C (p.Phe385Ser)
c.1157T>C (p.Phe386Ser)
c.1202T>C (p.Phe401Ser)
c.1199T>C (p.Phe400Ser)
4g.121845580A>TCA358062136BBS7c.1154T>A (p.Phe385Tyr)
c.1157T>A (p.Phe386Tyr)
c.1202T>A (p.Phe401Tyr)
c.1199T>A (p.Phe400Tyr)
4g.121845581A=CA1490022315BBS7c.1153T= (p.Phe385=)
c.1156T= (p.Phe386=)
c.1201T= (p.Phe401=)
c.1198T= (p.Phe400=)
4g.121845581A>CCA358062150BBS7c.1153T>G (p.Phe385Val)
c.1156T>G (p.Phe386Val)
c.1201T>G (p.Phe401Val)
c.1198T>G (p.Phe400Val)
4g.121845581A>GCA358062148BBS7c.1153T>C (p.Phe385Leu)
c.1156T>C (p.Phe386Leu)
c.1201T>C (p.Phe401Leu)
c.1198T>C (p.Phe400Leu)
 dbSNP gnomAD v3 gnomAD v4
4g.121845581A>TCA358062139BBS7c.1153T>A (p.Phe385Ile)
c.1156T>A (p.Phe386Ile)
c.1201T>A (p.Phe401Ile)
c.1198T>A (p.Phe400Ile)
4g.121845582T>ACA358062152BBS7c.1152A>T (p.Lys384Asn)
c.1155A>T (p.Lys385Asn)
c.1200A>T (p.Lys400Asn)
c.1197A>T (p.Lys399Asn)
4g.121845582T>CCA440922092BBS7c.1152A>G (p.Lys384=)
c.1155A>G (p.Lys385=)
c.1200A>G (p.Lys400=)
c.1197A>G (p.Lys399=)
 gnomAD v4
4g.121845582T>GCA358062155BBS7c.1152A>C (p.Lys384Asn)
c.1155A>C (p.Lys385Asn)
c.1200A>C (p.Lys400Asn)
c.1197A>C (p.Lys399Asn)
4g.121845583T>ACA358062159BBS7c.1151A>T (p.Lys384Ile)
c.1154A>T (p.Lys385Ile)
c.1199A>T (p.Lys400Ile)
c.1196A>T (p.Lys399Ile)
4g.121845583T>CCA358062163BBS7c.1151A>G (p.Lys384Arg)
c.1154A>G (p.Lys385Arg)
c.1199A>G (p.Lys400Arg)
c.1196A>G (p.Lys399Arg)
4g.121845583T>GCA358062165BBS7c.1151A>C (p.Lys384Thr)
c.1154A>C (p.Lys385Thr)
c.1199A>C (p.Lys400Thr)
c.1196A>C (p.Lys399Thr)
4g.121845584T>ACA358062172BBS7c.1150A>T (p.Lys384Ter)
c.1153A>T (p.Lys385Ter)
c.1198A>T (p.Lys400Ter)
c.1195A>T (p.Lys399Ter)
4g.121845584T>CCA358062174BBS7c.1150A>G (p.Lys384Glu)
c.1153A>G (p.Lys385Glu)
c.1198A>G (p.Lys400Glu)
c.1195A>G (p.Lys399Glu)
4g.121845584T>GCA358062175BBS7c.1150A>C (p.Lys384Gln)
c.1153A>C (p.Lys385Gln)
c.1198A>C (p.Lys400Gln)
c.1195A>C (p.Lys399Gln)
4g.121845585A>CCA358062178BBS7c.1149T>G (p.Asp383Glu)
c.1152T>G (p.Asp384Glu)
c.1197T>G (p.Asp399Glu)
c.1194T>G (p.Asp398Glu)
4g.121845585A>GCA440922094BBS7c.1149T>C (p.Asp383=)
c.1152T>C (p.Asp384=)
c.1197T>C (p.Asp399=)
c.1194T>C (p.Asp398=)
4g.121845585A>TCA358062180BBS7c.1149T>A (p.Asp383Glu)
c.1152T>A (p.Asp384Glu)
c.1197T>A (p.Asp399Glu)
c.1194T>A (p.Asp398Glu)
4g.121845586T>ACA358062183BBS7c.1148A>T (p.Asp383Val)
c.1151A>T (p.Asp384Val)
c.1196A>T (p.Asp399Val)
c.1193A>T (p.Asp398Val)
4g.121845586T>CCA358062184BBS7c.1148A>G (p.Asp383Gly)
c.1151A>G (p.Asp384Gly)
c.1196A>G (p.Asp399Gly)
c.1193A>G (p.Asp398Gly)
 gnomAD v4
4g.121845586T>GCA358062185BBS7c.1148A>C (p.Asp383Ala)
c.1151A>C (p.Asp384Ala)
c.1196A>C (p.Asp399Ala)
c.1193A>C (p.Asp398Ala)
4g.121845587C>ACA358062186BBS7c.1147G>T (p.Asp383Tyr)
c.1150G>T (p.Asp384Tyr)
c.1195G>T (p.Asp399Tyr)
c.1192G>T (p.Asp398Tyr)
4g.121845587C>GCA358062187BBS7c.1147G>C (p.Asp383His)
c.1150G>C (p.Asp384His)
c.1195G>C (p.Asp399His)
c.1192G>C (p.Asp398His)
4g.121845587C>TCA358062188BBS7c.1147G>A (p.Asp383Asn)
c.1150G>A (p.Asp384Asn)
c.1195G>A (p.Asp399Asn)
c.1192G>A (p.Asp398Asn)
4g.121845587_121845588delCA645538547BBS7c.1146_1147del (p.Asn382LysfsTer2)
c.1149_1150del (p.Asn383LysfsTer2)
c.1194_1195del (p.Asn398LysfsTer2)
c.1191_1192del (p.Asn397LysfsTer2)
 COSMIC
4g.121845588A=CA1490022316BBS7c.1146T= (p.Asn382=)
c.1149T= (p.Asn383=)
c.1194T= (p.Asn398=)
c.1191T= (p.Asn397=)
4g.121845588A>CCA358062189BBS7c.1146T>G (p.Asn382Lys)
c.1149T>G (p.Asn383Lys)
c.1194T>G (p.Asn398Lys)
c.1191T>G (p.Asn397Lys)
4g.121845588A>GCA440922095BBS7c.1146T>C (p.Asn382=)
c.1149T>C (p.Asn383=)
c.1194T>C (p.Asn398=)
c.1191T>C (p.Asn397=)
 dbSNP gnomAD v2 gnomAD v4
4g.121845588A>TCA358062191BBS7c.1146T>A (p.Asn382Lys)
c.1149T>A (p.Asn383Lys)
c.1194T>A (p.Asn398Lys)
c.1191T>A (p.Asn397Lys)
4g.121845589T>ACA358062193BBS7c.1145A>T (p.Asn382Ile)
c.1148A>T (p.Asn383Ile)
c.1193A>T (p.Asn398Ile)
c.1190A>T (p.Asn397Ile)
4g.121845589T>CCA358062196BBS7c.1145A>G (p.Asn382Ser)
c.1148A>G (p.Asn383Ser)
c.1193A>G (p.Asn398Ser)
c.1190A>G (p.Asn397Ser)
4g.121845589T>GCA358062197BBS7c.1145A>C (p.Asn382Thr)
c.1148A>C (p.Asn383Thr)
c.1193A>C (p.Asn398Thr)
c.1190A>C (p.Asn397Thr)
4g.121845590T>ACA358062199BBS7c.1144A>T (p.Asn382Tyr)
c.1147A>T (p.Asn383Tyr)
c.1192A>T (p.Asn398Tyr)
c.1189A>T (p.Asn397Tyr)
 gnomAD v4
4g.121845590T>CCA358062200BBS7c.1144A>G (p.Asn382Asp)
c.1147A>G (p.Asn383Asp)
c.1192A>G (p.Asn398Asp)
c.1189A>G (p.Asn397Asp)
4g.121845590T>GCA358062202BBS7c.1144A>C (p.Asn382His)
c.1147A>C (p.Asn383His)
c.1192A>C (p.Asn398His)
c.1189A>C (p.Asn397His)
4g.121845591T>ACA440922099BBS7c.1143A>T (p.Ile381=)
c.1146A>T (p.Ile382=)
c.1191A>T (p.Ile397=)
c.1188A>T (p.Ile396=)
4g.121845591T>CCA358062203BBS7c.1143A>G (p.Ile381Met)
c.1146A>G (p.Ile382Met)
c.1191A>G (p.Ile397Met)
c.1188A>G (p.Ile396Met)
 dbSNP gnomAD v4
4g.121845591T>GCA440922100BBS7c.1143A>C (p.Ile381=)
c.1146A>C (p.Ile382=)
c.1191A>C (p.Ile397=)
c.1188A>C (p.Ile396=)
4g.121845591T=CA1490022317BBS7c.1143A= (p.Ile381=)
c.1146A= (p.Ile382=)
c.1191A= (p.Ile397=)
c.1188A= (p.Ile396=)
4g.121845592A=CA1490022318BBS7c.1142T= (p.Ile381=)
c.1145T= (p.Ile382=)
c.1190T= (p.Ile397=)
c.1187T= (p.Ile396=)
4g.121845592A>CCA358062206BBS7c.1142T>G (p.Ile381Arg)
c.1145T>G (p.Ile382Arg)
c.1190T>G (p.Ile397Arg)
c.1187T>G (p.Ile396Arg)
4g.121845592A>GCA3064314BBS7c.1142T>C (p.Ile381Thr)
c.1145T>C (p.Ile382Thr)
c.1190T>C (p.Ile397Thr)
c.1187T>C (p.Ile396Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121845592A>TCA358062211BBS7c.1142T>A (p.Ile381Lys)
c.1145T>A (p.Ile382Lys)
c.1190T>A (p.Ile397Lys)
c.1187T>A (p.Ile396Lys)
4g.121845593T>ACA358062216BBS7c.1141A>T (p.Ile381Leu)
c.1144A>T (p.Ile382Leu)
c.1189A>T (p.Ile397Leu)
c.1186A>T (p.Ile396Leu)
4g.121845593T>CCA358062225BBS7c.1141A>G (p.Ile381Val)
c.1144A>G (p.Ile382Val)
c.1189A>G (p.Ile397Val)
c.1186A>G (p.Ile396Val)
4g.121845593T>GCA358062227BBS7c.1141A>C (p.Ile381Leu)
c.1144A>C (p.Ile382Leu)
c.1189A>C (p.Ile397Leu)
c.1186A>C (p.Ile396Leu)
4g.121845594A>CCA440922104BBS7c.1140T>G (p.Gly380=)
c.1143T>G (p.Gly381=)
c.1188T>G (p.Gly396=)
c.1185T>G (p.Gly395=)
4g.121845594A>GCA440922103BBS7c.1140T>C (p.Gly380=)
c.1143T>C (p.Gly381=)
c.1188T>C (p.Gly396=)
c.1185T>C (p.Gly395=)
4g.121845594A>TCA440922102BBS7c.1140T>A (p.Gly380=)
c.1143T>A (p.Gly381=)
c.1188T>A (p.Gly396=)
c.1185T>A (p.Gly395=)
4g.121845595C>ACA358062239BBS7c.1139G>T (p.Gly380Val)
c.1142G>T (p.Gly381Val)
c.1187G>T (p.Gly396Val)
c.1184G>T (p.Gly395Val)
4g.121845595C=CA1490022319BBS7c.1139G= (p.Gly380=)
c.1142G= (p.Gly381=)
c.1187G= (p.Gly396=)
c.1184G= (p.Gly395=)
4g.121845595C>GCA358062236BBS7c.1139G>C (p.Gly380Ala)
c.1142G>C (p.Gly381Ala)
c.1187G>C (p.Gly396Ala)
c.1184G>C (p.Gly395Ala)
4g.121845595C>TCA104762497BBS7c.1139G>A (p.Gly380Asp)
c.1142G>A (p.Gly381Asp)
c.1187G>A (p.Gly396Asp)
c.1184G>A (p.Gly395Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.121845596C>ACA358062240BBS7c.1138G>T (p.Gly380Cys)
c.1141G>T (p.Gly381Cys)
c.1186G>T (p.Gly396Cys)
c.1183G>T (p.Gly395Cys)
 COSMIC
4g.121845596C>GCA358062241BBS7c.1138G>C (p.Gly380Arg)
c.1141G>C (p.Gly381Arg)
c.1186G>C (p.Gly396Arg)
c.1183G>C (p.Gly395Arg)
4g.121845596C>TCA358062242BBS7c.1138G>A (p.Gly380Ser)
c.1141G>A (p.Gly381Ser)
c.1186G>A (p.Gly396Ser)
c.1183G>A (p.Gly395Ser)
4g.121845597A>CCA358062244BBS7c.1137T>G (p.Phe379Leu)
c.1140T>G (p.Phe380Leu)
c.1185T>G (p.Phe395Leu)
c.1182T>G (p.Phe394Leu)
4g.121845597A>GCA440922106BBS7c.1137T>C (p.Phe379=)
c.1140T>C (p.Phe380=)
c.1185T>C (p.Phe395=)
c.1182T>C (p.Phe394=)
4g.121845597A>TCA358062246BBS7c.1137T>A (p.Phe379Leu)
c.1140T>A (p.Phe380Leu)
c.1185T>A (p.Phe395Leu)
c.1182T>A (p.Phe394Leu)
4g.121845598A=CA1490022320BBS7c.1136T= (p.Phe379=)
c.1139T= (p.Phe380=)
c.1184T= (p.Phe395=)
c.1181T= (p.Phe394=)
4g.121845598A>CCA358062248BBS7c.1136T>G (p.Phe379Cys)
c.1139T>G (p.Phe380Cys)
c.1184T>G (p.Phe395Cys)
c.1181T>G (p.Phe394Cys)
4g.121845598A>GCA3064315BBS7c.1136T>C (p.Phe379Ser)
c.1139T>C (p.Phe380Ser)
c.1184T>C (p.Phe395Ser)
c.1181T>C (p.Phe394Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121845598A>TCA358062247BBS7c.1136T>A (p.Phe379Tyr)
c.1139T>A (p.Phe380Tyr)
c.1184T>A (p.Phe395Tyr)
c.1181T>A (p.Phe394Tyr)
4g.121845599A=CA1490022321BBS7c.1135T= (p.Phe379=)
c.1138T= (p.Phe380=)
c.1183T= (p.Phe395=)
c.1180T= (p.Phe394=)
4g.121845599A>CCA229213BBS7c.1135T>G (p.Phe379Val)
c.1138T>G (p.Phe380Val)
c.1183T>G (p.Phe395Val)
c.1180T>G (p.Phe394Val)
 ClinVar dbSNP
4g.121845599A>GCA358062249BBS7c.1135T>C (p.Phe379Leu)
c.1138T>C (p.Phe380Leu)
c.1183T>C (p.Phe395Leu)
c.1180T>C (p.Phe394Leu)
4g.121845599A>TCA358062250BBS7c.1135T>A (p.Phe379Ile)
c.1138T>A (p.Phe380Ile)
c.1183T>A (p.Phe395Ile)
c.1180T>A (p.Phe394Ile)

Number of alleles fetched