| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6291289_6291293dup | CA2669825847 | WFS1 | c.553_557dup (p.Lys186AsnfsTer?) c.543_547dup c.304_308dup (p.Lys103AsnfsTer?) c.352_356dup (p.Lys119AsnfsTer?) c.427_431dup (p.Lys144AsnfsTer?) c.150_154dup n.738_742dup c.562_566dup (p.Lys189AsnfsTer?) | gnomAD v4 |
| 4 | g.6291292A>C | CA356172023 | WFS1 | c.556A>C (p.Lys186Gln) c.546A>C c.307A>C (p.Lys103Gln) c.355A>C (p.Lys119Gln) c.430A>C (p.Lys144Gln) c.153A>C n.741A>C c.565A>C (p.Lys189Gln) | gnomAD v4 |
| 4 | g.6291292A>G | CA356172024 | WFS1 | c.556A>G (p.Lys186Glu) c.546A>G c.307A>G (p.Lys103Glu) c.355A>G (p.Lys119Glu) c.430A>G (p.Lys144Glu) c.153A>G n.741A>G c.565A>G (p.Lys189Glu) | |
| 4 | g.6291292A>T | CA356172025 | WFS1 | c.556A>T (p.Lys186Ter) c.546A>T c.307A>T (p.Lys103Ter) c.355A>T (p.Lys119Ter) c.430A>T (p.Lys144Ter) c.153A>T n.741A>T c.565A>T (p.Lys189Ter) | gnomAD v4 |
| 4 | g.6291293A>C | CA356172026 | WFS1 | c.557A>C (p.Lys186Thr) c.547A>C c.308A>C (p.Lys103Thr) c.356A>C (p.Lys119Thr) c.431A>C (p.Lys144Thr) c.154A>C n.742A>C c.566A>C (p.Lys189Thr) | |
| 4 | g.6291293A>G | CA356172027 | WFS1 | c.557A>G (p.Lys186Arg) c.547A>G c.308A>G (p.Lys103Arg) c.356A>G (p.Lys119Arg) c.431A>G (p.Lys144Arg) c.154A>G n.742A>G c.566A>G (p.Lys189Arg) | |
| 4 | g.6291293A>T | CA356172028 | WFS1 | c.557A>T (p.Lys186Met) c.547A>T c.308A>T (p.Lys103Met) c.356A>T (p.Lys119Met) c.431A>T (p.Lys144Met) c.154A>T n.742A>T c.566A>T (p.Lys189Met) | |
| 4 | g.6291294G>A | CA438210981 | WFS1 | c.558G>A (p.Lys186=) c.548G>A c.309G>A (p.Lys103=) c.357G>A (p.Lys119=) c.432G>A (p.Lys144=) c.155G>A n.743G>A c.567G>A (p.Lys189=) | |
| 4 | g.6291294G>C | CA356172029 | WFS1 | c.558G>C (p.Lys186Asn) c.548G>C c.309G>C (p.Lys103Asn) c.357G>C (p.Lys119Asn) c.432G>C (p.Lys144Asn) c.155G>C n.743G>C c.567G>C (p.Lys189Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291294G= | CA1435768609 | WFS1 | c.558G= (p.Lys186=) c.548G= c.309G= (p.Lys103=) c.357G= (p.Lys119=) c.432G= (p.Lys144=) c.155G= n.743G= c.567G= (p.Lys189=) | |
| 4 | g.6291294G>T | CA356172030 | WFS1 | c.558G>T (p.Lys186Asn) c.548G>T c.309G>T (p.Lys103Asn) c.357G>T (p.Lys119Asn) c.432G>T (p.Lys144Asn) c.155G>T n.743G>T c.567G>T (p.Lys189Asn) | |
| 4 | g.6291295C>A | CA356172031 | WFS1 | c.559C>A (p.Leu187Ile) c.549C>A c.310C>A (p.Leu104Ile) c.358C>A (p.Leu120Ile) c.433C>A (p.Leu145Ile) c.156C>A n.744C>A c.568C>A (p.Leu190Ile) | |
| 4 | g.6291295C= | CA1435768610 | WFS1 | c.559C= (p.Leu187=) c.549C= c.310C= (p.Leu104=) c.358C= (p.Leu120=) c.433C= (p.Leu145=) c.156C= n.744C= c.568C= (p.Leu190=) | |
| 4 | g.6291295C>G | CA356172032 | WFS1 | c.559C>G (p.Leu187Val) c.549C>G c.310C>G (p.Leu104Val) c.358C>G (p.Leu120Val) c.433C>G (p.Leu145Val) c.156C>G n.744C>G c.568C>G (p.Leu190Val) | dbSNP gnomAD v4 |
| 4 | g.6291295C>T | CA356172033 | WFS1 | c.559C>T (p.Leu187Phe) c.549C>T c.310C>T (p.Leu104Phe) c.358C>T (p.Leu120Phe) c.433C>T (p.Leu145Phe) c.156C>T n.744C>T c.568C>T (p.Leu190Phe) | ClinVar |
| 4 | g.6291296T>A | CA356172034 | WFS1 | c.560T>A (p.Leu187His) c.550T>A c.311T>A (p.Leu104His) c.359T>A (p.Leu120His) c.434T>A (p.Leu145His) c.157T>A n.745T>A c.569T>A (p.Leu190His) | |
| 4 | g.6291296T>C | CA356172035 | WFS1 | c.560T>C (p.Leu187Pro) c.550T>C c.311T>C (p.Leu104Pro) c.359T>C (p.Leu120Pro) c.434T>C (p.Leu145Pro) c.157T>C n.745T>C c.569T>C (p.Leu190Pro) | |
| 4 | g.6291296T>G | CA356172036 | WFS1 | c.560T>G (p.Leu187Arg) c.550T>G c.311T>G (p.Leu104Arg) c.359T>G (p.Leu120Arg) c.434T>G (p.Leu145Arg) c.157T>G n.745T>G c.569T>G (p.Leu190Arg) | |
| 4 | g.6291297C>A | CA438210982 | WFS1 | c.561C>A (p.Leu187=) c.551C>A c.312C>A (p.Leu104=) c.360C>A (p.Leu120=) c.435C>A (p.Leu145=) c.158C>A n.746C>A c.570C>A (p.Leu190=) | |
| 4 | g.6291297C>G | CA438210983 | WFS1 | c.561C>G (p.Leu187=) c.551C>G c.312C>G (p.Leu104=) c.360C>G (p.Leu120=) c.435C>G (p.Leu145=) c.158C>G n.746C>G c.570C>G (p.Leu190=) | |
| 4 | g.6291297C>T | CA438210984 | WFS1 | c.561C>T (p.Leu187=) c.551C>T c.312C>T (p.Leu104=) c.360C>T (p.Leu120=) c.435C>T (p.Leu145=) c.158C>T n.746C>T c.570C>T (p.Leu190=) | |
| 4 | g.6291298A>C | CA356172039 | WFS1 | c.562A>C (p.Asn188His) c.552A>C c.313A>C (p.Asn105His) c.361A>C (p.Asn121His) c.436A>C (p.Asn146His) c.159A>C n.747A>C c.571A>C (p.Asn191His) | gnomAD v4 |
| 4 | g.6291298A>G | CA356172037 | WFS1 | c.562A>G (p.Asn188Asp) c.552A>G c.313A>G (p.Asn105Asp) c.361A>G (p.Asn121Asp) c.436A>G (p.Asn146Asp) c.159A>G n.747A>G c.571A>G (p.Asn191Asp) | |
| 4 | g.6291298A>T | CA356172038 | WFS1 | c.562A>T (p.Asn188Tyr) c.552A>T c.313A>T (p.Asn105Tyr) c.361A>T (p.Asn121Tyr) c.436A>T (p.Asn146Tyr) c.159A>T n.747A>T c.571A>T (p.Asn191Tyr) | |
| 4 | g.6291299A>C | CA356172040 | WFS1 | c.563A>C (p.Asn188Thr) c.553A>C c.314A>C (p.Asn105Thr) c.362A>C (p.Asn121Thr) c.437A>C (p.Asn146Thr) c.160A>C n.748A>C c.572A>C (p.Asn191Thr) | |
| 4 | g.6291299A>G | CA356172041 | WFS1 | c.563A>G (p.Asn188Ser) c.553A>G c.314A>G (p.Asn105Ser) c.362A>G (p.Asn121Ser) c.437A>G (p.Asn146Ser) c.160A>G n.748A>G c.572A>G (p.Asn191Ser) | |
| 4 | g.6291299A>T | CA356172042 | WFS1 | c.563A>T (p.Asn188Ile) c.553A>T c.314A>T (p.Asn105Ile) c.362A>T (p.Asn121Ile) c.437A>T (p.Asn146Ile) c.160A>T n.748A>T c.572A>T (p.Asn191Ile) | |
| 4 | g.6291300C>A | CA356172043 | WFS1 | c.564C>A (p.Asn188Lys) c.554C>A c.315C>A (p.Asn105Lys) c.363C>A (p.Asn121Lys) c.438C>A (p.Asn146Lys) c.161C>A n.749C>A c.573C>A (p.Asn191Lys) | gnomAD v4 |
| 4 | g.6291300C>G | CA356172044 | WFS1 | c.564C>G (p.Asn188Lys) c.554C>G c.315C>G (p.Asn105Lys) c.363C>G (p.Asn121Lys) c.438C>G (p.Asn146Lys) c.161C>G n.749C>G c.573C>G (p.Asn191Lys) | |
| 4 | g.6291300C>T | CA438210985 | WFS1 | c.564C>T (p.Asn188=) c.554C>T c.315C>T (p.Asn105=) c.363C>T (p.Asn121=) c.438C>T (p.Asn146=) c.161C>T n.749C>T c.573C>T (p.Asn191=) | |
| 4 | g.6291301C>A | CA356172045 | WFS1 | c.565C>A (p.Pro189Thr) c.555C>A c.316C>A (p.Pro106Thr) c.364C>A (p.Pro122Thr) c.439C>A (p.Pro147Thr) c.162C>A n.750C>A c.574C>A (p.Pro192Thr) | |
| 4 | g.6291301C= | CA1435768611 | WFS1 | c.565C= (p.Pro189=) c.555C= c.316C= (p.Pro106=) c.364C= (p.Pro122=) c.439C= (p.Pro147=) c.162C= n.750C= c.574C= (p.Pro192=) | |
| 4 | g.6291301C>G | CA356172047 | WFS1 | c.565C>G (p.Pro189Ala) c.555C>G c.316C>G (p.Pro106Ala) c.364C>G (p.Pro122Ala) c.439C>G (p.Pro147Ala) c.162C>G n.750C>G c.574C>G (p.Pro192Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291301C>T | CA356172046 | WFS1 | c.565C>T (p.Pro189Ser) c.555C>T c.316C>T (p.Pro106Ser) c.364C>T (p.Pro122Ser) c.439C>T (p.Pro147Ser) c.162C>T n.750C>T c.574C>T (p.Pro192Ser) | COSMIC |
| 4 | g.6291302C>A | CA356172048 | WFS1 | c.566C>A (p.Pro189His) c.556C>A c.317C>A (p.Pro106His) c.365C>A (p.Pro122His) c.440C>A (p.Pro147His) c.163C>A n.751C>A c.575C>A (p.Pro192His) | |
| 4 | g.6291302C>G | CA356172049 | WFS1 | c.566C>G (p.Pro189Arg) c.556C>G c.317C>G (p.Pro106Arg) c.365C>G (p.Pro122Arg) c.440C>G (p.Pro147Arg) c.163C>G n.751C>G c.575C>G (p.Pro192Arg) | |
| 4 | g.6291302C>T | CA356172050 | WFS1 | c.566C>T (p.Pro189Leu) c.556C>T c.317C>T (p.Pro106Leu) c.365C>T (p.Pro122Leu) c.440C>T (p.Pro147Leu) c.163C>T n.751C>T c.575C>T (p.Pro192Leu) | |
| 4 | g.6291303C>A | CA438210986 | WFS1 | c.567C>A (p.Pro189=) c.557C>A c.318C>A (p.Pro106=) c.366C>A (p.Pro122=) c.441C>A (p.Pro147=) c.164C>A n.752C>A c.576C>A (p.Pro192=) | ClinVar dbSNP |
| 4 | g.6291303C= | CA1435768613 | WFS1 | c.567C= (p.Pro189=) c.557C= c.318C= (p.Pro106=) c.366C= (p.Pro122=) c.441C= (p.Pro147=) c.164C= n.752C= c.576C= (p.Pro192=) | |
| 4 | g.6291303C>G | CA438210987 | WFS1 | c.567C>G (p.Pro189=) c.557C>G c.318C>G (p.Pro106=) c.366C>G (p.Pro122=) c.441C>G (p.Pro147=) c.164C>G n.752C>G c.576C>G (p.Pro192=) | gnomAD v4 |
| 4 | g.6291303C>T | CA438210988 | WFS1 | c.567C>T (p.Pro189=) c.557C>T c.318C>T (p.Pro106=) c.366C>T (p.Pro122=) c.441C>T (p.Pro147=) c.164C>T n.752C>T c.576C>T (p.Pro192=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6291303_6291306delinsCAAG | CA1435768612 | WFS1 | c.567_570delinsCAAG (p.Pro189=) c.557_560delinsCAAG c.318_321delinsCAAG (p.Pro106=) c.366_369delinsCAAG (p.Pro122=) c.441_444delinsCAAG (p.Pro147=) c.164_167delinsCAAG n.752_755delinsCAAG c.576_579delinsCAAG (p.Pro192=) | |
| 4 | g.6291304A= | CA1435768614 | WFS1 | c.568A= (p.Lys190=) c.558A= c.319A= (p.Lys107=) c.367A= (p.Lys123=) c.442A= (p.Lys148=) c.165A= n.753A= c.577A= (p.Lys193=) | |
| 4 | g.6291304A>C | CA2838939 | WFS1 | c.568A>C (p.Lys190Gln) c.558A>C c.319A>C (p.Lys107Gln) c.367A>C (p.Lys123Gln) c.442A>C (p.Lys148Gln) c.165A>C n.753A>C c.577A>C (p.Lys193Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291304A>G | CA91794577 | WFS1 | c.568A>G (p.Lys190Glu) c.558A>G c.319A>G (p.Lys107Glu) c.367A>G (p.Lys123Glu) c.442A>G (p.Lys148Glu) c.165A>G n.753A>G c.577A>G (p.Lys193Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291304A>T | CA356172051 | WFS1 | c.568A>T (p.Lys190Ter) c.558A>T c.319A>T (p.Lys107Ter) c.367A>T (p.Lys123Ter) c.442A>T (p.Lys148Ter) c.165A>T n.753A>T c.577A>T (p.Lys193Ter) | |
| 4 | g.6291313_6291315dup | CA2838938 | WFS1 | c.577_579dup (p.Lys193_Gln194insLys) c.567_569dup c.328_330dup (p.Lys110_Gln111insLys) c.376_378dup (p.Lys126_Gln127insLys) c.174_176dup n.762_764dup c.586_588dup (p.Lys196_Gln197insLys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291313_6291315del | CA2838937 | WFS1 | c.577_579del (p.Lys193del) c.567_569del c.328_330del (p.Lys110del) c.376_378del (p.Lys126del) c.174_176del n.762_764del c.586_588del (p.Lys196del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291305A>C | CA356172052 | WFS1 | c.569A>C (p.Lys190Thr) c.559A>C c.320A>C (p.Lys107Thr) c.368A>C (p.Lys123Thr) c.443A>C (p.Lys148Thr) c.166A>C n.754A>C c.578A>C (p.Lys193Thr) | |
| 4 | g.6291305A>G | CA356172053 | WFS1 | c.569A>G (p.Lys190Arg) c.559A>G c.320A>G (p.Lys107Arg) c.368A>G (p.Lys123Arg) c.443A>G (p.Lys148Arg) c.166A>G n.754A>G c.578A>G (p.Lys193Arg) | gnomAD v4 |
| 4 | g.6291305A>T | CA356172054 | WFS1 | c.569A>T (p.Lys190Met) c.559A>T c.320A>T (p.Lys107Met) c.368A>T (p.Lys123Met) c.443A>T (p.Lys148Met) c.166A>T n.754A>T c.578A>T (p.Lys193Met) | |
| 4 | g.6291306G>A | CA438210989 | WFS1 | c.570G>A (p.Lys190=) c.560G>A c.321G>A (p.Lys107=) c.369G>A (p.Lys123=) c.444G>A (p.Lys148=) c.167G>A n.755G>A c.579G>A (p.Lys193=) | |
| 4 | g.6291306G>C | CA356172055 | WFS1 | c.570G>C (p.Lys190Asn) c.560G>C c.321G>C (p.Lys107Asn) c.369G>C (p.Lys123Asn) c.444G>C (p.Lys148Asn) c.167G>C n.755G>C c.579G>C (p.Lys193Asn) | |
| 4 | g.6291306G>T | CA356172056 | WFS1 | c.570G>T (p.Lys190Asn) c.560G>T c.321G>T (p.Lys107Asn) c.369G>T (p.Lys123Asn) c.444G>T (p.Lys148Asn) c.167G>T n.755G>T c.579G>T (p.Lys193Asn) | |
| 4 | g.6291307A>C | CA356172057 | WFS1 | c.571A>C (p.Lys191Gln) c.561A>C c.322A>C (p.Lys108Gln) c.370A>C (p.Lys124Gln) c.445A>C c.168A>C n.756A>C c.580A>C (p.Lys194Gln) | |
| 4 | g.6291307A>G | CA356172059 | WFS1 | c.571A>G (p.Lys191Glu) c.561A>G c.322A>G (p.Lys108Glu) c.370A>G (p.Lys124Glu) c.445A>G c.168A>G n.756A>G c.580A>G (p.Lys194Glu) | |
| 4 | g.6291307A>T | CA356172058 | WFS1 | c.571A>T (p.Lys191Ter) c.561A>T c.322A>T (p.Lys108Ter) c.370A>T (p.Lys124Ter) c.445A>T c.168A>T n.756A>T c.580A>T (p.Lys194Ter) | |
| 4 | g.6291308A= | CA1435768615 | WFS1 | c.572A= (p.Lys191=) c.562A= c.323A= (p.Lys108=) c.371A= (p.Lys124=) c.446A= c.169A= n.757A= c.581A= (p.Lys194=) | |
| 4 | g.6291308A>C | CA356172060 | WFS1 | c.572A>C (p.Lys191Thr) c.562A>C c.323A>C (p.Lys108Thr) c.371A>C (p.Lys124Thr) c.446A>C c.169A>C n.757A>C c.581A>C (p.Lys194Thr) | |
| 4 | g.6291308A>G | CA2838940 | WFS1 | c.572A>G (p.Lys191Arg) c.562A>G c.323A>G (p.Lys108Arg) c.371A>G (p.Lys124Arg) c.446A>G c.169A>G n.757A>G c.581A>G (p.Lys194Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291308A>T | CA356172061 | WFS1 | c.572A>T (p.Lys191Met) c.562A>T c.323A>T (p.Lys108Met) c.371A>T (p.Lys124Met) c.446A>T c.169A>T n.757A>T c.581A>T (p.Lys194Met) | |
| 4 | g.6291309G>A | CA2838941 | WFS1 | c.573G>A (p.Lys191=) c.563G>A c.324G>A (p.Lys108=) c.372G>A (p.Lys124=) c.170G>A n.758G>A c.582G>A (p.Lys194=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.6291309G>C | CA356172062 | WFS1 | c.573G>C (p.Lys191Asn) c.563G>C c.324G>C (p.Lys108Asn) c.372G>C (p.Lys124Asn) c.170G>C n.758G>C c.582G>C (p.Lys194Asn) | |
| 4 | g.6291309G= | CA1435768616 | WFS1 | c.573G= (p.Lys191=) c.563G= c.324G= (p.Lys108=) c.372G= (p.Lys124=) c.170G= n.758G= c.582G= (p.Lys194=) | |
| 4 | g.6291309G>T | CA356172063 | WFS1 | c.573G>T (p.Lys191Asn) c.563G>T c.324G>T (p.Lys108Asn) c.372G>T (p.Lys124Asn) c.170G>T n.758G>T c.582G>T (p.Lys194Asn) | ClinVar dbSNP gnomAD v2 |
| 4 | g.6291310A= | CA1435768617 | WFS1 | c.574A= (p.Lys192=) c.564A= c.325A= (p.Lys109=) c.373A= (p.Lys125=) c.171A= n.759A= c.583A= (p.Lys195=) | |
| 4 | g.6291310A>C | CA356172064 | WFS1 | c.574A>C (p.Lys192Gln) c.564A>C c.325A>C (p.Lys109Gln) c.373A>C (p.Lys125Gln) c.171A>C n.759A>C c.583A>C (p.Lys195Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291310A>G | CA356172065 | WFS1 | c.574A>G (p.Lys192Glu) c.564A>G c.325A>G (p.Lys109Glu) c.373A>G (p.Lys125Glu) c.171A>G n.759A>G c.583A>G (p.Lys195Glu) | |
| 4 | g.6291310A>T | CA356172066 | WFS1 | c.574A>T (p.Lys192Ter) c.564A>T c.325A>T (p.Lys109Ter) c.373A>T (p.Lys125Ter) c.171A>T n.759A>T c.583A>T (p.Lys195Ter) | |
| 4 | g.6291311A= | CA1435768618 | WFS1 | c.575A= (p.Lys192=) c.565A= c.326A= (p.Lys109=) c.374A= (p.Lys125=) c.172A= n.760A= c.584A= (p.Lys195=) | |
| 4 | g.6291311A>C | CA356172067 | WFS1 | c.575A>C (p.Lys192Thr) c.565A>C c.326A>C (p.Lys109Thr) c.374A>C (p.Lys125Thr) c.172A>C n.760A>C c.584A>C (p.Lys195Thr) | dbSNP gnomAD v4 |
| 4 | g.6291311A>G | CA356172068 | WFS1 | c.575A>G (p.Lys192Arg) c.565A>G c.326A>G (p.Lys109Arg) c.374A>G (p.Lys125Arg) c.172A>G n.760A>G c.584A>G (p.Lys195Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6291311A>T | CA356172069 | WFS1 | c.575A>T (p.Lys192Met) c.565A>T c.326A>T (p.Lys109Met) c.374A>T (p.Lys125Met) c.172A>T n.760A>T c.584A>T (p.Lys195Met) | |
| 4 | g.6291312G>A | CA438210990 | WFS1 | c.576G>A (p.Lys192=) c.566G>A c.327G>A (p.Lys109=) c.375G>A (p.Lys125=) c.173G>A n.761G>A c.585G>A (p.Lys195=) | |
| 4 | g.6291312G>C | CA356172070 | WFS1 | c.576G>C (p.Lys192Asn) c.566G>C c.327G>C (p.Lys109Asn) c.375G>C (p.Lys125Asn) c.173G>C n.761G>C c.585G>C (p.Lys195Asn) | |
| 4 | g.6291312G= | CA1435768619 | WFS1 | c.576G= (p.Lys192=) c.566G= c.327G= (p.Lys109=) c.375G= (p.Lys125=) c.173G= n.761G= c.585G= (p.Lys195=) | |
| 4 | g.6291312G>T | CA356172071 | WFS1 | c.576G>T (p.Lys192Asn) c.566G>T c.327G>T (p.Lys109Asn) c.375G>T (p.Lys125Asn) c.173G>T n.761G>T c.585G>T (p.Lys195Asn) | |
| 4 | g.6291313A= | CA1435768620 | WFS1 | c.577A= (p.Lys193=) c.567A= c.328A= (p.Lys110=) c.376A= (p.Lys126=) c.174A= n.762A= c.586A= (p.Lys196=) | |
| 4 | g.6291313A>C | CA295799 | WFS1 | c.577A>C (p.Lys193Gln) c.567A>C c.328A>C (p.Lys110Gln) c.376A>C (p.Lys126Gln) c.174A>C n.762A>C c.586A>C (p.Lys196Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291313A>G | CA356172072 | WFS1 | c.577A>G (p.Lys193Glu) c.567A>G c.328A>G (p.Lys110Glu) c.376A>G (p.Lys126Glu) c.174A>G n.762A>G c.586A>G (p.Lys196Glu) | gnomAD v4 |
| 4 | g.6291313A>T | CA356172073 | WFS1 | c.577A>T (p.Lys193Ter) c.567A>T c.328A>T (p.Lys110Ter) c.376A>T (p.Lys126Ter) c.174A>T n.762A>T c.586A>T (p.Lys196Ter) | |
| 4 | g.6291314dup | CA2838942 | WFS1 | c.578dup (p.Gln194AlafsTer?) c.568dup c.329dup (p.Gln111AlafsTer?) c.377dup (p.Gln127AlafsTer?) c.175dup n.763dup c.587dup (p.Gln197AlafsTer?) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 4 | g.6291314A= | CA1435768621 | WFS1 | c.578A= (p.Lys193=) c.568A= c.329A= (p.Lys110=) c.377A= (p.Lys126=) c.175A= n.763A= c.587A= (p.Lys196=) | |
| 4 | g.6291314A>C | CA356172074 | WFS1 | c.578A>C (p.Lys193Thr) c.568A>C c.329A>C (p.Lys110Thr) c.377A>C (p.Lys126Thr) c.175A>C n.763A>C c.587A>C (p.Lys196Thr) | |
| 4 | g.6291314A>G | CA16609250 | WFS1 | c.578A>G (p.Lys193Arg) c.568A>G c.329A>G (p.Lys110Arg) c.377A>G (p.Lys126Arg) c.175A>G n.763A>G c.587A>G (p.Lys196Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291314A>T | CA356172075 | WFS1 | c.578A>T (p.Lys193Met) c.568A>T c.329A>T (p.Lys110Met) c.377A>T (p.Lys126Met) c.175A>T n.763A>T c.587A>T (p.Lys196Met) | |
| 4 | g.6291315_6291316insGAG | CA2838943 | WFS1 | c.579_580insGAG (p.Lys193_Gln194insGlu) c.569_570insGAG c.330_331insGAG (p.Lys110_Gln111insGlu) c.378_379insGAG (p.Lys126_Gln127insGlu) c.176_177insGAG n.764_765insGAG c.588_589insGAG (p.Lys196_Gln197insGlu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291315G>A | CA438210991 | WFS1 | c.579G>A (p.Lys193=) c.569G>A c.330G>A (p.Lys110=) c.378G>A (p.Lys126=) c.176G>A n.764G>A c.588G>A (p.Lys196=) | |
| 4 | g.6291315G>C | CA356172076 | WFS1 | c.579G>C (p.Lys193Asn) c.569G>C c.330G>C (p.Lys110Asn) c.378G>C (p.Lys126Asn) c.176G>C n.764G>C c.588G>C (p.Lys196Asn) | |
| 4 | g.6291315G>T | CA356172077 | WFS1 | c.579G>T (p.Lys193Asn) c.569G>T c.330G>T (p.Lys110Asn) c.378G>T (p.Lys126Asn) c.176G>T n.764G>T c.588G>T (p.Lys196Asn) | |
| 4 | g.6291316C>A | CA356172078 | WFS1 | c.580C>A (p.Gln194Lys) c.570C>A c.331C>A (p.Gln111Lys) c.379C>A (p.Gln127Lys) c.177C>A n.765C>A c.589C>A (p.Gln197Lys) | gnomAD v4 |
| 4 | g.6291316C>G | CA356172079 | WFS1 | c.580C>G (p.Gln194Glu) c.570C>G c.331C>G (p.Gln111Glu) c.379C>G (p.Gln127Glu) c.177C>G n.765C>G c.589C>G (p.Gln197Glu) | gnomAD v4 |
| 4 | g.6291316C>T | CA356172080 | WFS1 | c.580C>T (p.Gln194Ter) c.570C>T c.331C>T (p.Gln111Ter) c.379C>T (p.Gln127Ter) c.177C>T n.765C>T c.589C>T (p.Gln197Ter) | gnomAD v4 |
| 4 | g.6291317A>C | CA356172081 | WFS1 | c.581A>C (p.Gln194Pro) c.571A>C c.332A>C (p.Gln111Pro) c.380A>C (p.Gln127Pro) c.178A>C n.766A>C c.590A>C (p.Gln197Pro) | |
| 4 | g.6291317A>G | CA356172083 | WFS1 | c.581A>G (p.Gln194Arg) c.571A>G c.332A>G (p.Gln111Arg) c.380A>G (p.Gln127Arg) c.178A>G n.766A>G c.590A>G (p.Gln197Arg) | |
| 4 | g.6291317A>T | CA356172082 | WFS1 | c.581A>T (p.Gln194Leu) c.571A>T c.332A>T (p.Gln111Leu) c.380A>T (p.Gln127Leu) c.178A>T n.766A>T c.590A>T (p.Gln197Leu) | |
| 4 | g.6291318G>A | CA438210992 | WFS1 | c.582G>A (p.Gln194=) c.572G>A c.333G>A (p.Gln111=) c.381G>A (p.Gln127=) c.179G>A n.767G>A c.591G>A (p.Gln197=) | gnomAD v4 |
| 4 | g.6291318G>C | CA356172084 | WFS1 | c.582G>C (p.Gln194His) c.572G>C c.333G>C (p.Gln111His) c.381G>C (p.Gln127His) c.179G>C n.767G>C c.591G>C (p.Gln197His) | dbSNP gnomAD v2 |
| 4 | g.6291318G= | CA1435768622 | WFS1 | c.582G= (p.Gln194=) c.572G= c.333G= (p.Gln111=) c.381G= (p.Gln127=) c.179G= n.767G= c.591G= (p.Gln197=) | |
| 4 | g.6291318G>T | CA356172085 | WFS1 | c.582G>T (p.Gln194His) c.572G>T c.333G>T (p.Gln111His) c.381G>T (p.Gln127His) c.179G>T n.767G>T c.591G>T (p.Gln197His) | COSMIC |
| 4 | g.6291319G>A | CA356172086 | WFS1 | c.583G>A (p.Val195Met) c.573G>A c.334G>A (p.Val112Met) c.382G>A (p.Val128Met) c.180G>A n.768G>A c.592G>A (p.Val198Met) | dbSNP |
| 4 | g.6291319G>C | CA356172087 | WFS1 | c.583G>C (p.Val195Leu) c.573G>C c.334G>C (p.Val112Leu) c.382G>C (p.Val128Leu) c.180G>C n.768G>C c.592G>C (p.Val198Leu) | |
| 4 | g.6291319G= | CA1435768623 | WFS1 | c.583G= (p.Val195=) c.573G= c.334G= (p.Val112=) c.382G= (p.Val128=) c.180G= n.768G= c.592G= (p.Val198=) | |
| 4 | g.6291319G>T | CA356172088 | WFS1 | c.583G>T (p.Val195Leu) c.573G>T c.334G>T (p.Val112Leu) c.382G>T (p.Val128Leu) c.180G>T n.768G>T c.592G>T (p.Val198Leu) | |
| 4 | g.6291320T>A | CA356172089 | WFS1 | c.584T>A (p.Val195Glu) c.574T>A c.335T>A (p.Val112Glu) c.383T>A (p.Val128Glu) c.181T>A n.769T>A c.593T>A (p.Val198Glu) | |
| 4 | g.6291320T>C | CA356172090 | WFS1 | c.584T>C (p.Val195Ala) c.574T>C c.335T>C (p.Val112Ala) c.383T>C (p.Val128Ala) c.181T>C n.769T>C c.593T>C (p.Val198Ala) | gnomAD v4 |
| 4 | g.6291320T>G | CA356172091 | WFS1 | c.584T>G (p.Val195Gly) c.574T>G c.335T>G (p.Val112Gly) c.383T>G (p.Val128Gly) c.181T>G n.769T>G c.593T>G (p.Val198Gly) | |
| 4 | g.6291321G>A | CA438210993 | WFS1 | c.585G>A (p.Val195=) c.575G>A c.336G>A (p.Val112=) c.384G>A (p.Val128=) c.182G>A n.770G>A c.594G>A (p.Val198=) | |
| 4 | g.6291321G>C | CA438210994 | WFS1 | c.585G>C (p.Val195=) c.575G>C c.336G>C (p.Val112=) c.384G>C (p.Val128=) c.182G>C n.770G>C c.594G>C (p.Val198=) | |
| 4 | g.6291321G>T | CA438210995 | WFS1 | c.585G>T (p.Val195=) c.575G>T c.336G>T (p.Val112=) c.384G>T (p.Val128=) c.182G>T n.770G>T c.594G>T (p.Val198=) | gnomAD v4 |
| 4 | g.6291322G>A | CA356172092 | WFS1 | c.586G>A (p.Ala196Thr) c.576G>A c.337G>A (p.Ala113Thr) c.385G>A (p.Ala129Thr) c.183G>A n.771G>A c.595G>A (p.Ala199Thr) | gnomAD v4 |
| 4 | g.6291322G>C | CA356172093 | WFS1 | c.586G>C (p.Ala196Pro) c.576G>C c.337G>C (p.Ala113Pro) c.385G>C (p.Ala129Pro) c.183G>C n.771G>C c.595G>C (p.Ala199Pro) | |
| 4 | g.6291322G>T | CA356172094 | WFS1 | c.586G>T (p.Ala196Ser) c.576G>T c.337G>T (p.Ala113Ser) c.385G>T (p.Ala129Ser) c.183G>T n.771G>T c.595G>T (p.Ala199Ser) | |
| 4 | g.6291323C>A | CA356172097 | WFS1 | c.587C>A (p.Ala196Asp) c.577C>A c.338C>A (p.Ala113Asp) c.386C>A (p.Ala129Asp) c.184C>A n.772C>A c.596C>A (p.Ala199Asp) | |
| 4 | g.6291323C>G | CA356172096 | WFS1 | c.587C>G (p.Ala196Gly) c.577C>G c.338C>G (p.Ala113Gly) c.386C>G (p.Ala129Gly) c.184C>G n.772C>G c.596C>G (p.Ala199Gly) | |
| 4 | g.6291323C>T | CA356172095 | WFS1 | c.587C>T (p.Ala196Val) c.577C>T c.338C>T (p.Ala113Val) c.386C>T (p.Ala129Val) c.184C>T n.772C>T c.596C>T (p.Ala199Val) | COSMIC |
| 4 | g.6291324C>A | CA438210996 | WFS1 | c.588C>A (p.Ala196=) c.578C>A c.339C>A (p.Ala113=) c.387C>A (p.Ala129=) c.185C>A n.773C>A c.597C>A (p.Ala199=) | gnomAD v4 |
| 4 | g.6291324C= | CA1435768624 | WFS1 | c.588C= (p.Ala196=) c.578C= c.339C= (p.Ala113=) c.387C= (p.Ala129=) c.185C= n.773C= c.597C= (p.Ala199=) | |
| 4 | g.6291324C>G | CA438210997 | WFS1 | c.588C>G (p.Ala196=) c.578C>G c.339C>G (p.Ala113=) c.387C>G (p.Ala129=) c.185C>G n.773C>G c.597C>G (p.Ala199=) | |
| 4 | g.6291324C>T | CA2838944 | WFS1 | c.588C>T (p.Ala196=) c.578C>T c.339C>T (p.Ala113=) c.387C>T (p.Ala129=) c.185C>T n.773C>T c.597C>T (p.Ala199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291325G>A | CA356172098 | WFS1 | c.589G>A (p.Val197Met) c.579G>A c.340G>A (p.Val114Met) c.388G>A (p.Val130Met) c.186G>A n.774G>A c.598G>A (p.Val200Met) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6291325G>C | CA356172099 | WFS1 | c.589G>C (p.Val197Leu) c.579G>C c.340G>C (p.Val114Leu) c.388G>C (p.Val130Leu) c.186G>C n.774G>C c.598G>C (p.Val200Leu) | |
| 4 | g.6291325G= | CA1435768625 | WFS1 | c.589G= (p.Val197=) c.579G= c.340G= (p.Val114=) c.388G= (p.Val130=) c.186G= n.774G= c.598G= (p.Val200=) | |
| 4 | g.6291325G>T | CA356172100 | WFS1 | c.589G>T (p.Val197Leu) c.579G>T c.340G>T (p.Val114Leu) c.388G>T (p.Val130Leu) c.186G>T n.774G>T c.598G>T (p.Val200Leu) | |
| 4 | g.6291326T>A | CA356172101 | WFS1 | c.590T>A (p.Val197Glu) c.580T>A c.341T>A (p.Val114Glu) c.389T>A (p.Val130Glu) c.187T>A n.775T>A c.599T>A (p.Val200Glu) | |
| 4 | g.6291326T>C | CA356172102 | WFS1 | c.590T>C (p.Val197Ala) c.580T>C c.341T>C (p.Val114Ala) c.389T>C (p.Val130Ala) c.187T>C n.775T>C c.599T>C (p.Val200Ala) | |
| 4 | g.6291326T>G | CA356172103 | WFS1 | c.590T>G (p.Val197Gly) c.580T>G c.341T>G (p.Val114Gly) c.389T>G (p.Val130Gly) c.187T>G n.775T>G c.599T>G (p.Val200Gly) | |
| 4 | g.6291327G>A | CA91794578 | WFS1 | c.591G>A (p.Val197=) c.581G>A c.342G>A (p.Val114=) c.390G>A (p.Val130=) c.188G>A n.776G>A c.600G>A (p.Val200=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291327G>C | CA438210998 | WFS1 | c.591G>C (p.Val197=) c.581G>C c.342G>C (p.Val114=) c.390G>C (p.Val130=) c.188G>C n.776G>C c.600G>C (p.Val200=) | |
| 4 | g.6291327G= | CA1435768626 | WFS1 | c.591G= (p.Val197=) c.581G= c.342G= (p.Val114=) c.390G= (p.Val130=) c.188G= n.776G= c.600G= (p.Val200=) | |
| 4 | g.6291327G>T | CA438210999 | WFS1 | c.591G>T (p.Val197=) c.581G>T c.342G>T (p.Val114=) c.390G>T (p.Val130=) c.188G>T n.776G>T c.600G>T (p.Val200=) | |
| 4 | g.6291328G>A | CA356172104 | WFS1 | c.592G>A (p.Ala198Thr) c.582G>A c.343G>A (p.Ala115Thr) c.391G>A (p.Ala131Thr) c.189G>A n.777G>A c.601G>A (p.Ala201Thr) | gnomAD v4 |
| 4 | g.6291328G>C | CA356172105 | WFS1 | c.592G>C (p.Ala198Pro) c.582G>C c.343G>C (p.Ala115Pro) c.391G>C (p.Ala131Pro) c.189G>C n.777G>C c.601G>C (p.Ala201Pro) | |
| 4 | g.6291328G>T | CA356172106 | WFS1 | c.592G>T (p.Ala198Ser) c.582G>T c.343G>T (p.Ala115Ser) c.391G>T (p.Ala131Ser) c.189G>T n.777G>T c.601G>T (p.Ala201Ser) | gnomAD v3 gnomAD v4 |
| 4 | g.6291329C>A | CA356172107 | WFS1 | c.593C>A (p.Ala198Glu) c.583C>A c.344C>A (p.Ala115Glu) c.392C>A (p.Ala131Glu) c.190C>A n.778C>A c.602C>A (p.Ala201Glu) | |
| 4 | g.6291329C= | CA1435768627 | WFS1 | c.593C= (p.Ala198=) c.583C= c.344C= (p.Ala115=) c.392C= (p.Ala131=) c.190C= n.778C= c.602C= (p.Ala201=) | |
| 4 | g.6291329C>G | CA356172108 | WFS1 | c.593C>G (p.Ala198Gly) c.583C>G c.344C>G (p.Ala115Gly) c.392C>G (p.Ala131Gly) c.190C>G n.778C>G c.602C>G (p.Ala201Gly) | |
| 4 | g.6291329C>T | CA91794579 | WFS1 | c.593C>T (p.Ala198Val) c.583C>T c.344C>T (p.Ala115Val) c.392C>T (p.Ala131Val) c.190C>T n.778C>T c.602C>T (p.Ala201Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291330G>A | CA2838945 | WFS1 | c.594G>A (p.Ala198=) c.584G>A c.345G>A (p.Ala115=) c.393G>A (p.Ala131=) c.191G>A n.779G>A c.603G>A (p.Ala201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291330G>C | CA438211000 | WFS1 | c.594G>C (p.Ala198=) c.584G>C c.345G>C (p.Ala115=) c.393G>C (p.Ala131=) c.191G>C n.779G>C c.603G>C (p.Ala201=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291330G= | CA1435768628 | WFS1 | c.594G= (p.Ala198=) c.584G= c.345G= (p.Ala115=) c.393G= (p.Ala131=) c.191G= n.779G= c.603G= (p.Ala201=) | |
| 4 | g.6291330G>T | CA438211001 | WFS1 | c.594G>T (p.Ala198=) c.584G>T c.345G>T (p.Ala115=) c.393G>T (p.Ala131=) c.191G>T n.779G>T c.603G>T (p.Ala201=) | |
| 4 | g.6291331G>A | CA356172109 | WFS1 | c.595G>A (p.Glu199Lys) c.585G>A c.346G>A (p.Glu116Lys) c.394G>A (p.Glu132Lys) c.192G>A n.780G>A c.604G>A (p.Glu202Lys) | |
| 4 | g.6291331G>C | CA2838946 | WFS1 | c.595G>C (p.Glu199Gln) c.585G>C c.346G>C (p.Glu116Gln) c.394G>C (p.Glu132Gln) c.192G>C n.780G>C c.604G>C (p.Glu202Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291331G= | CA1435768629 | WFS1 | c.595G= (p.Glu199=) c.585G= c.346G= (p.Glu116=) c.394G= (p.Glu132=) c.192G= n.780G= c.604G= (p.Glu202=) | |
| 4 | g.6291331G>T | CA356172110 | WFS1 | c.595G>T (p.Glu199Ter) c.585G>T c.346G>T (p.Glu116Ter) c.394G>T (p.Glu132Ter) c.192G>T n.780G>T c.604G>T (p.Glu202Ter) | |
| 4 | g.6291332A>C | CA356172111 | WFS1 | c.596A>C (p.Glu199Ala) c.586A>C c.347A>C (p.Glu116Ala) c.395A>C (p.Glu132Ala) c.193A>C n.781A>C c.605A>C (p.Glu202Ala) | |
| 4 | g.6291332A>G | CA356172113 | WFS1 | c.596A>G (p.Glu199Gly) c.586A>G c.347A>G (p.Glu116Gly) c.395A>G (p.Glu132Gly) c.193A>G n.781A>G c.605A>G (p.Glu202Gly) | ClinVar |
| 4 | g.6291332A>T | CA356172112 | WFS1 | c.596A>T (p.Glu199Val) c.586A>T c.347A>T (p.Glu116Val) c.395A>T (p.Glu132Val) c.193A>T n.781A>T c.605A>T (p.Glu202Val) | |
| 4 | g.6291333G>A | CA438211002 | WFS1 | c.597G>A (p.Glu199=) c.587G>A c.348G>A (p.Glu116=) c.396G>A (p.Glu132=) c.194G>A n.782G>A c.606G>A (p.Glu202=) | |
| 4 | g.6291333G>C | CA356172114 | WFS1 | c.597G>C (p.Glu199Asp) c.587G>C c.348G>C (p.Glu116Asp) c.396G>C (p.Glu132Asp) c.194G>C n.782G>C c.606G>C (p.Glu202Asp) | |
| 4 | g.6291333G>T | CA356172115 | WFS1 | c.597G>T (p.Glu199Asp) c.587G>T c.348G>T (p.Glu116Asp) c.396G>T (p.Glu132Asp) c.194G>T n.782G>T c.606G>T (p.Glu202Asp) | |
| 4 | g.6291334C>A | CA356172116 | WFS1 | c.598C>A (p.Leu200Met) c.588C>A c.349C>A (p.Leu117Met) c.397C>A (p.Leu133Met) c.195C>A n.783C>A c.607C>A (p.Leu203Met) | |
| 4 | g.6291334C>G | CA356172117 | WFS1 | c.598C>G (p.Leu200Val) c.588C>G c.349C>G (p.Leu117Val) c.397C>G (p.Leu133Val) c.195C>G n.783C>G c.607C>G (p.Leu203Val) | |
| 4 | g.6291334C>T | CA438211003 | WFS1 | c.598C>T (p.Leu200=) c.588C>T c.349C>T (p.Leu117=) c.397C>T (p.Leu133=) c.195C>T n.783C>T c.607C>T (p.Leu203=) | |
| 4 | g.6291335del | CA2578035748 | WFS1 | c.599del (p.Leu200ArgfsTer?) c.589del c.350del (p.Leu117ArgfsTer?) c.398del (p.Leu133ArgfsTer?) c.196del n.784del c.608del (p.Leu203ArgfsTer?) | ClinVar gnomAD v4 |
| 4 | g.6291335T>A | CA356172118 | WFS1 | c.599T>A (p.Leu200Gln) c.589T>A c.350T>A (p.Leu117Gln) c.398T>A (p.Leu133Gln) c.196T>A n.784T>A c.608T>A (p.Leu203Gln) | |
| 4 | g.6291335T>C | CA356172119 | WFS1 | c.599T>C (p.Leu200Pro) c.589T>C c.350T>C (p.Leu117Pro) c.398T>C (p.Leu133Pro) c.196T>C n.784T>C c.608T>C (p.Leu203Pro) | ClinVar gnomAD v4 |
| 4 | g.6291335T>G | CA356172120 | WFS1 | c.599T>G (p.Leu200Arg) c.589T>G c.350T>G (p.Leu117Arg) c.398T>G (p.Leu133Arg) c.196T>G n.784T>G c.608T>G (p.Leu203Arg) | |
| 4 | g.6291336G>A | CA438211006 | WFS1 | c.600G>A (p.Leu200=) c.590G>A c.351G>A (p.Leu117=) c.399G>A (p.Leu133=) c.197G>A n.785G>A c.609G>A (p.Leu203=) | gnomAD v4 |
| 4 | g.6291336G>C | CA438211004 | WFS1 | c.600G>C (p.Leu200=) c.590G>C c.351G>C (p.Leu117=) c.399G>C (p.Leu133=) c.197G>C n.785G>C c.609G>C (p.Leu203=) | |
| 4 | g.6291336G>T | CA438211005 | WFS1 | c.600G>T (p.Leu200=) c.590G>T c.351G>T (p.Leu117=) c.399G>T (p.Leu133=) c.197G>T n.785G>T c.609G>T (p.Leu203=) | |
| 4 | g.6291337C>A | CA2838947 | WFS1 | c.601C>A (p.Leu201Met) c.591C>A c.352C>A (p.Leu118Met) c.400C>A (p.Leu134Met) c.198C>A n.786C>A c.610C>A (p.Leu204Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291337C= | CA1435768630 | WFS1 | c.601C= (p.Leu201=) c.591C= c.352C= (p.Leu118=) c.400C= (p.Leu134=) c.198C= n.786C= c.610C= (p.Leu204=) | |
| 4 | g.6291337C>G | CA356172121 | WFS1 | c.601C>G (p.Leu201Val) c.591C>G c.352C>G (p.Leu118Val) c.400C>G (p.Leu134Val) c.198C>G n.786C>G c.610C>G (p.Leu204Val) | |
| 4 | g.6291337C>T | CA438211007 | WFS1 | c.601C>T (p.Leu201=) c.591C>T c.352C>T (p.Leu118=) c.400C>T (p.Leu134=) c.198C>T n.786C>T c.610C>T (p.Leu204=) | |
| 4 | g.6291338T>A | CA356172122 | WFS1 | c.602T>A (p.Leu201Gln) c.592T>A c.353T>A (p.Leu118Gln) c.401T>A (p.Leu134Gln) c.199T>A n.787T>A c.611T>A (p.Leu204Gln) | |
| 4 | g.6291338T>C | CA356172123 | WFS1 | c.602T>C (p.Leu201Pro) c.592T>C c.353T>C (p.Leu118Pro) c.401T>C (p.Leu134Pro) c.199T>C n.787T>C c.611T>C (p.Leu204Pro) | |
| 4 | g.6291338T>G | CA356172124 | WFS1 | c.602T>G (p.Leu201Arg) c.592T>G c.353T>G (p.Leu118Arg) c.401T>G (p.Leu134Arg) c.199T>G n.787T>G c.611T>G (p.Leu204Arg) | |
| 4 | g.6291339G>A | CA438211008 | WFS1 | c.603G>A (p.Leu201=) c.593G>A c.354G>A (p.Leu118=) c.402G>A (p.Leu134=) c.200G>A n.788G>A c.612G>A (p.Leu204=) | COSMIC |
| 4 | g.6291339G>C | CA438211009 | WFS1 | c.603G>C (p.Leu201=) c.593G>C c.354G>C (p.Leu118=) c.402G>C (p.Leu134=) c.200G>C n.788G>C c.612G>C (p.Leu204=) | gnomAD v4 |
| 4 | g.6291339G>T | CA438211010 | WFS1 | c.603G>T (p.Leu201=) c.593G>T c.354G>T (p.Leu118=) c.402G>T (p.Leu134=) c.200G>T n.788G>T c.612G>T (p.Leu204=) | |
| 4 | g.6291340G>A | CA2838948 | WFS1 | c.604G>A (p.Glu202Lys) c.594G>A c.355G>A (p.Glu119Lys) c.403G>A (p.Glu135Lys) c.201G>A n.789G>A c.613G>A (p.Glu205Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291340G>C | CA356172125 | WFS1 | c.604G>C (p.Glu202Gln) c.594G>C c.355G>C (p.Glu119Gln) c.403G>C (p.Glu135Gln) c.201G>C n.789G>C c.613G>C (p.Glu205Gln) | ClinVar |
| 4 | g.6291340G= | CA1435768631 | WFS1 | c.604G= (p.Glu202=) c.594G= c.355G= (p.Glu119=) c.403G= (p.Glu135=) c.201G= n.789G= c.613G= (p.Glu205=) | |
| 4 | g.6291340G>T | CA356172126 | WFS1 | c.604G>T (p.Glu202Ter) c.594G>T c.355G>T (p.Glu119Ter) c.403G>T (p.Glu135Ter) c.201G>T n.789G>T c.613G>T (p.Glu205Ter) | |
| 4 | g.6291341A= | CA1435768632 | WFS1 | c.605A= (p.Glu202=) c.595A= c.356A= (p.Glu119=) c.404A= (p.Glu135=) c.202A= n.790A= c.614A= (p.Glu205=) | |
| 4 | g.6291341A>C | CA356172128 | WFS1 | c.605A>C (p.Glu202Ala) c.595A>C c.356A>C (p.Glu119Ala) c.404A>C (p.Glu135Ala) c.202A>C n.790A>C c.614A>C (p.Glu205Ala) | |
| 4 | g.6291341A>G | CA16618051 | WFS1 | c.605A>G (p.Glu202Gly) c.595A>G c.356A>G (p.Glu119Gly) c.404A>G (p.Glu135Gly) c.202A>G n.790A>G c.614A>G (p.Glu205Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6291341A>T | CA356172127 | WFS1 | c.605A>T (p.Glu202Val) c.595A>T c.356A>T (p.Glu119Val) c.404A>T (p.Glu135Val) c.202A>T n.790A>T c.614A>T (p.Glu205Val) | |
| 4 | g.6291342G>A | CA438211011 | WFS1 | c.606G>A (p.Glu202=) c.596G>A c.357G>A (p.Glu119=) c.405G>A (p.Glu135=) c.203G>A n.791G>A c.615G>A (p.Glu205=) | dbSNP |
| 4 | g.6291342G>C | CA356172129 | WFS1 | c.606G>C (p.Glu202Asp) c.596G>C c.357G>C (p.Glu119Asp) c.405G>C (p.Glu135Asp) c.203G>C n.791G>C c.615G>C (p.Glu205Asp) | |
| 4 | g.6291342G>T | CA356172130 | WFS1 | c.606G>T (p.Glu202Asp) c.596G>T c.357G>T (p.Glu119Asp) c.405G>T (p.Glu135Asp) c.203G>T n.791G>T c.615G>T (p.Glu205Asp) | |
| 4 | g.6291343A>C | CA356172131 | WFS1 | c.607A>C (p.Asn203His) c.597A>C c.358A>C (p.Asn120His) c.406A>C (p.Asn136His) c.204A>C n.792A>C c.616A>C (p.Asn206His) | |
| 4 | g.6291343A>G | CA356172132 | WFS1 | c.607A>G (p.Asn203Asp) c.597A>G c.358A>G (p.Asn120Asp) c.406A>G (p.Asn136Asp) c.204A>G n.792A>G c.616A>G (p.Asn206Asp) | gnomAD v4 |
| 4 | g.6291343A>T | CA356172133 | WFS1 | c.607A>T (p.Asn203Tyr) c.597A>T c.358A>T (p.Asn120Tyr) c.406A>T (p.Asn136Tyr) c.204A>T n.792A>T c.616A>T (p.Asn206Tyr) | |
| 4 | g.6291344A= | CA1435768633 | WFS1 | c.608A= (p.Asn203=) c.598A= c.359A= (p.Asn120=) c.407A= (p.Asn136=) c.205A= n.793A= c.617A= (p.Asn206=) | |
| 4 | g.6291344A>C | CA356172134 | WFS1 | c.608A>C (p.Asn203Thr) c.598A>C c.359A>C (p.Asn120Thr) c.407A>C (p.Asn136Thr) c.205A>C n.793A>C c.617A>C (p.Asn206Thr) | |
| 4 | g.6291344A>G | CA91794580 | WFS1 | c.608A>G (p.Asn203Ser) c.598A>G c.359A>G (p.Asn120Ser) c.407A>G (p.Asn136Ser) c.205A>G n.793A>G c.617A>G (p.Asn206Ser) | dbSNP |
| 4 | g.6291344A>T | CA356172135 | WFS1 | c.608A>T (p.Asn203Ile) c.598A>T c.359A>T (p.Asn120Ile) c.407A>T (p.Asn136Ile) c.205A>T n.793A>T c.617A>T (p.Asn206Ile) | |
| 4 | g.6291345T>A | CA356172136 | WFS1 | c.609T>A (p.Asn203Lys) c.599T>A c.360T>A (p.Asn120Lys) c.408T>A (p.Asn136Lys) c.206T>A n.794T>A c.618T>A (p.Asn206Lys) | gnomAD v4 |
| 4 | g.6291345T>C | CA2838949 | WFS1 | c.609T>C (p.Asn203=) c.599T>C c.360T>C (p.Asn120=) c.408T>C (p.Asn136=) c.206T>C n.794T>C c.618T>C (p.Asn206=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291345T>G | CA356172137 | WFS1 | c.609T>G (p.Asn203Lys) c.599T>G c.360T>G (p.Asn120Lys) c.408T>G (p.Asn136Lys) c.206T>G n.794T>G c.618T>G (p.Asn206Lys) | |
| 4 | g.6291345T= | CA1435768634 | WFS1 | c.609T= (p.Asn203=) c.599T= c.360T= (p.Asn120=) c.408T= (p.Asn136=) c.206T= n.794T= c.618T= (p.Asn206=) | |
| 4 | g.6291346G>A | CA356172140 | WFS1 | c.610G>A (p.Val204Ile) c.600G>A c.361G>A (p.Val121Ile) c.409G>A (p.Val137Ile) c.207G>A n.795G>A c.619G>A (p.Val207Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291346G>C | CA356172139 | WFS1 | c.610G>C (p.Val204Leu) c.600G>C c.361G>C (p.Val121Leu) c.409G>C (p.Val137Leu) c.207G>C n.795G>C c.619G>C (p.Val207Leu) | |
| 4 | g.6291346G= | CA1435768635 | WFS1 | c.610G= (p.Val204=) c.600G= c.361G= (p.Val121=) c.409G= (p.Val137=) c.207G= n.795G= c.619G= (p.Val207=) | |
| 4 | g.6291346G>T | CA356172138 | WFS1 | c.610G>T (p.Val204Phe) c.600G>T c.361G>T (p.Val121Phe) c.409G>T (p.Val137Phe) c.207G>T n.795G>T c.619G>T (p.Val207Phe) | |
| 4 | g.6291347T>A | CA356172141 | WFS1 | c.611T>A (p.Val204Asp) c.601T>A c.362T>A (p.Val121Asp) c.410T>A (p.Val137Asp) c.208T>A n.796T>A c.620T>A (p.Val207Asp) | |
| 4 | g.6291347T>C | CA356172142 | WFS1 | c.611T>C (p.Val204Ala) c.601T>C c.362T>C (p.Val121Ala) c.410T>C (p.Val137Ala) c.208T>C n.796T>C c.620T>C (p.Val207Ala) | |
| 4 | g.6291347T>G | CA356172143 | WFS1 | c.611T>G (p.Val204Gly) c.601T>G c.362T>G (p.Val121Gly) c.410T>G (p.Val137Gly) c.208T>G n.796T>G c.620T>G (p.Val207Gly) | |
| 4 | g.6291348C>A | CA438211012 | WFS1 | c.612C>A (p.Val204=) c.602C>A c.363C>A (p.Val121=) c.411C>A (p.Val137=) c.209C>A n.797C>A c.621C>A (p.Val207=) | |
| 4 | g.6291348C= | CA1435768636 | WFS1 | c.612C= (p.Val204=) c.602C= c.363C= (p.Val121=) c.411C= (p.Val137=) c.209C= n.797C= c.621C= (p.Val207=) | |
| 4 | g.6291348C>G | CA438211013 | WFS1 | c.612C>G (p.Val204=) c.602C>G c.363C>G (p.Val121=) c.411C>G (p.Val137=) c.209C>G n.797C>G c.621C>G (p.Val207=) | |
| 4 | g.6291348C>T | CA2838950 | WFS1 | c.612C>T (p.Val204=) c.602C>T c.363C>T (p.Val121=) c.411C>T (p.Val137=) c.209C>T n.797C>T c.621C>T (p.Val207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291349G>A | CA2838951 | WFS1 | c.613G>A (p.Gly205Ser) c.603G>A c.364G>A (p.Gly122Ser) c.412G>A (p.Gly138Ser) c.210G>A n.798G>A c.622G>A (p.Gly208Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291349G>C | CA356172144 | WFS1 | c.613G>C (p.Gly205Arg) c.603G>C c.364G>C (p.Gly122Arg) c.412G>C (p.Gly138Arg) c.210G>C n.798G>C c.622G>C (p.Gly208Arg) | |
| 4 | g.6291349G= | CA1435768637 | WFS1 | c.613G= (p.Gly205=) c.603G= c.364G= (p.Gly122=) c.412G= (p.Gly138=) c.210G= n.798G= c.622G= (p.Gly208=) | |
| 4 | g.6291349G>T | CA356172145 | WFS1 | c.613G>T (p.Gly205Cys) c.603G>T c.364G>T (p.Gly122Cys) c.412G>T (p.Gly138Cys) c.210G>T n.798G>T c.622G>T (p.Gly208Cys) | gnomAD v4 |
| 4 | g.6291350G>A | CA356172146 | WFS1 | c.614G>A (p.Gly205Asp) c.604G>A c.365G>A (p.Gly122Asp) c.413G>A (p.Gly138Asp) c.211G>A n.799G>A c.623G>A (p.Gly208Asp) | dbSNP gnomAD v4 |
| 4 | g.6291350G>C | CA356172147 | WFS1 | c.614G>C (p.Gly205Ala) c.604G>C c.365G>C (p.Gly122Ala) c.413G>C (p.Gly138Ala) c.211G>C n.799G>C c.623G>C (p.Gly208Ala) | |
| 4 | g.6291350G= | CA1435768638 | WFS1 | c.614G= (p.Gly205=) c.604G= c.365G= (p.Gly122=) c.413G= (p.Gly138=) c.211G= n.799G= c.623G= (p.Gly208=) | |
| 4 | g.6291350G>T | CA356172148 | WFS1 | c.614G>T (p.Gly205Val) c.604G>T c.365G>T (p.Gly122Val) c.413G>T (p.Gly138Val) c.211G>T n.799G>T c.623G>T (p.Gly208Val) | dbSNP gnomAD v4 |
| 4 | g.6291351C>A | CA438211015 | WFS1 | c.615C>A (p.Gly205=) c.605C>A c.366C>A (p.Gly122=) c.414C>A (p.Gly138=) c.212C>A n.800C>A c.624C>A (p.Gly208=) | |
| 4 | g.6291351C= | CA1435768639 | WFS1 | c.615C= (p.Gly205=) c.605C= c.366C= (p.Gly122=) c.414C= (p.Gly138=) c.212C= n.800C= c.624C= (p.Gly208=) | |
| 4 | g.6291351C>G | CA438211014 | WFS1 | c.615C>G (p.Gly205=) c.605C>G c.366C>G (p.Gly122=) c.414C>G (p.Gly138=) c.212C>G n.800C>G c.624C>G (p.Gly208=) | ClinVar dbSNP |
| 4 | g.6291351C>T | CA91794581 | WFS1 | c.615C>T (p.Gly205=) c.605C>T c.366C>T (p.Gly122=) c.414C>T (p.Gly138=) c.212C>T n.800C>T c.624C>T (p.Gly208=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6291352C>A | CA356172149 | WFS1 | c.616C>A (p.Gln206Lys) c.606C>A c.367C>A (p.Gln123Lys) c.415C>A (p.Gln139Lys) c.213C>A n.801C>A c.625C>A (p.Gln209Lys) | |
| 4 | g.6291352C>G | CA356172150 | WFS1 | c.616C>G (p.Gln206Glu) c.606C>G c.367C>G (p.Gln123Glu) c.415C>G (p.Gln139Glu) c.213C>G n.801C>G c.625C>G (p.Gln209Glu) | |
| 4 | g.6291352C>T | CA356172151 | WFS1 | c.616C>T (p.Gln206Ter) c.606C>T c.367C>T (p.Gln123Ter) c.415C>T (p.Gln139Ter) c.213C>T n.801C>T c.625C>T (p.Gln209Ter) | |
| 4 | g.6291353A>C | CA356172152 | WFS1 | c.617A>C (p.Gln206Pro) c.607A>C c.368A>C (p.Gln123Pro) c.416A>C (p.Gln139Pro) c.214A>C n.802A>C c.626A>C (p.Gln209Pro) | |
| 4 | g.6291353A>G | CA356172154 | WFS1 | c.617A>G (p.Gln206Arg) c.607A>G c.368A>G (p.Gln123Arg) c.416A>G (p.Gln139Arg) c.214A>G n.802A>G c.626A>G (p.Gln209Arg) | |
| 4 | g.6291353A>T | CA356172153 | WFS1 | c.617A>T (p.Gln206Leu) c.607A>T c.368A>T (p.Gln123Leu) c.416A>T (p.Gln139Leu) c.214A>T n.802A>T c.626A>T (p.Gln209Leu) | |
| 4 | g.6291354G>A | CA438211016 | WFS1 | c.618G>A (p.Gln206=) c.608G>A c.369G>A (p.Gln123=) c.417G>A (p.Gln139=) c.215G>A n.803G>A c.627G>A (p.Gln209=) | dbSNP |
| 4 | g.6291354G>C | CA356172155 | WFS1 | c.618G>C (p.Gln206His) c.608G>C c.369G>C (p.Gln123His) c.417G>C (p.Gln139His) c.215G>C n.803G>C c.627G>C (p.Gln209His) | dbSNP gnomAD v4 |
| 4 | g.6291354G= | CA1435768640 | WFS1 | c.618G= (p.Gln206=) c.608G= c.369G= (p.Gln123=) c.417G= (p.Gln139=) c.215G= n.803G= c.627G= (p.Gln209=) | |
| 4 | g.6291354G>T | CA356172156 | WFS1 | c.618G>T (p.Gln206His) c.608G>T c.369G>T (p.Gln123His) c.417G>T (p.Gln139His) c.215G>T n.803G>T c.627G>T (p.Gln209His) | |
| 4 | g.6291355G>A | CA356172157 | WFS1 | c.619G>A (p.Val207Ile) c.608+1G>A c.370G>A (p.Val124Ile) c.418G>A (p.Val140Ile) c.216G>A n.804G>A c.628G>A (p.Val210Ile) | |
| 4 | g.6291355G>C | CA356172158 | WFS1 | c.619G>C (p.Val207Leu) c.608+1G>C c.370G>C (p.Val124Leu) c.418G>C (p.Val140Leu) c.216G>C n.804G>C c.628G>C (p.Val210Leu) | |
| 4 | g.6291355G= | CA1435768641 | WFS1 | c.619G= (p.Val207=) c.608+1G= c.370G= (p.Val124=) c.418G= (p.Val140=) c.216G= n.804G= c.628G= (p.Val210=) | |
| 4 | g.6291355G>T | CA356172159 | WFS1 | c.619G>T (p.Val207Phe) c.608+1G>T c.370G>T (p.Val124Phe) c.418G>T (p.Val140Phe) c.216G>T n.804G>T c.628G>T (p.Val210Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291356T>A | CA356172160 | WFS1 | c.620T>A (p.Val207Asp) c.608+2T>A c.371T>A (p.Val124Asp) c.419T>A (p.Val140Asp) c.217T>A n.805T>A c.629T>A (p.Val210Asp) | |
| 4 | g.6291356T>C | CA356172161 | WFS1 | c.620T>C (p.Val207Ala) c.608+2T>C c.371T>C (p.Val124Ala) c.419T>C (p.Val140Ala) c.217T>C n.805T>C c.629T>C (p.Val210Ala) | |
| 4 | g.6291356T>G | CA356172162 | WFS1 | c.620T>G (p.Val207Gly) c.608+2T>G c.371T>G (p.Val124Gly) c.419T>G (p.Val140Gly) c.217T>G n.805T>G c.629T>G (p.Val210Gly) | |
| 4 | g.6291356_6291357del | CA645515481 | WFS1 | c.620_621del (p.Val207GlufsTer?) c.608+2_608+3del c.371_372del (p.Val124GlufsTer?) c.419_420del (p.Val140GlufsTer?) c.217_218del n.805_806del c.629_630del (p.Val210GlufsTer?) | COSMIC |
| 4 | g.6291357C>A | CA438211018 | WFS1 | c.621C>A (p.Val207=) c.608+3C>A c.372C>A (p.Val124=) c.420C>A (p.Val140=) c.218C>A n.806C>A c.630C>A (p.Val210=) | |
| 4 | g.6291357C= | CA1435768642 | WFS1 | c.621C= (p.Val207=) c.608+3C= c.372C= (p.Val124=) c.420C= (p.Val140=) c.218C= n.806C= c.630C= (p.Val210=) | |
| 4 | g.6291357C>G | CA438211019 | WFS1 | c.621C>G (p.Val207=) c.608+3C>G c.372C>G (p.Val124=) c.420C>G (p.Val140=) c.218C>G n.806C>G c.630C>G (p.Val210=) | dbSNP |
| 4 | g.6291357C>T | CA438211020 | WFS1 | c.621C>T (p.Val207=) c.608+3C>T c.372C>T (p.Val124=) c.420C>T (p.Val140=) c.218C>T n.806C>T c.630C>T (p.Val210=) | |
| 4 | g.6291358A>C | CA356172163 | WFS1 | c.622A>C (p.Asn208His) c.608+4A>C c.373A>C (p.Asn125His) c.421A>C (p.Asn141His) c.219A>C n.807A>C c.631A>C (p.Asn211His) | |
| 4 | g.6291358A>G | CA356172164 | WFS1 | c.622A>G (p.Asn208Asp) c.608+4A>G c.373A>G (p.Asn125Asp) c.421A>G (p.Asn141Asp) c.219A>G n.807A>G c.631A>G (p.Asn211Asp) | COSMIC |
| 4 | g.6291358A>T | CA356172165 | WFS1 | c.622A>T (p.Asn208Tyr) c.608+4A>T c.373A>T (p.Asn125Tyr) c.421A>T (p.Asn141Tyr) c.219A>T n.807A>T c.631A>T (p.Asn211Tyr) | |
| 4 | g.6291359A= | CA1435768643 | WFS1 | c.623A= (p.Asn208=) c.608+5A= c.374A= (p.Asn125=) c.422A= (p.Asn141=) c.220A= n.808A= c.632A= (p.Asn211=) | |
| 4 | g.6291359A>C | CA2838952 | WFS1 | c.623A>C (p.Asn208Thr) c.608+5A>C c.374A>C (p.Asn125Thr) c.422A>C (p.Asn141Thr) c.220A>C n.808A>C c.632A>C (p.Asn211Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291359A>G | CA356172167 | WFS1 | c.623A>G (p.Asn208Ser) c.608+5A>G c.374A>G (p.Asn125Ser) c.422A>G (p.Asn141Ser) c.220A>G n.808A>G c.632A>G (p.Asn211Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6291359A>T | CA356172166 | WFS1 | c.623A>T (p.Asn208Ile) c.608+5A>T c.374A>T (p.Asn125Ile) c.422A>T (p.Asn141Ile) c.220A>T n.808A>T c.632A>T (p.Asn211Ile) | |
| 4 | g.6291360C>A | CA356172169 | WFS1 | c.624C>A (p.Asn208Lys) c.608+6C>A c.375C>A (p.Asn125Lys) c.423C>A (p.Asn141Lys) c.221C>A n.809C>A c.633C>A (p.Asn211Lys) | |
| 4 | g.6291360C= | CA1435768644 | WFS1 | c.624C= (p.Asn208=) c.608+6C= c.375C= (p.Asn125=) c.423C= (p.Asn141=) c.221C= n.809C= c.633C= (p.Asn211=) | |
| 4 | g.6291360C>G | CA356172168 | WFS1 | c.624C>G (p.Asn208Lys) c.608+6C>G c.375C>G (p.Asn125Lys) c.423C>G (p.Asn141Lys) c.221C>G n.809C>G c.633C>G (p.Asn211Lys) | |
| 4 | g.6291360C>T | CA2838953 | WFS1 | c.624C>T (p.Asn208=) c.608+6C>T c.375C>T (p.Asn125=) c.423C>T (p.Asn141=) c.221C>T n.809C>T c.633C>T (p.Asn211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291361G>A | CA2838954 | WFS1 | c.625G>A (p.Glu209Lys) c.608+7G>A c.376G>A (p.Glu126Lys) c.424G>A (p.Glu142Lys) c.222G>A n.810G>A c.634G>A (p.Glu212Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291361G>C | CA356172170 | WFS1 | c.625G>C (p.Glu209Gln) c.608+7G>C c.376G>C (p.Glu126Gln) c.424G>C (p.Glu142Gln) c.222G>C n.810G>C c.634G>C (p.Glu212Gln) | |
| 4 | g.6291361G= | CA1435768645 | WFS1 | c.625G= (p.Glu209=) c.608+7G= c.376G= (p.Glu126=) c.424G= (p.Glu142=) c.222G= n.810G= c.634G= (p.Glu212=) | |
| 4 | g.6291361G>T | CA356172171 | WFS1 | c.625G>T (p.Glu209Ter) c.608+7G>T c.376G>T (p.Glu126Ter) c.424G>T (p.Glu142Ter) c.222G>T n.810G>T c.634G>T (p.Glu212Ter) | gnomAD v4 |
| 4 | g.6291362A>C | CA356172172 | WFS1 | c.626A>C (p.Glu209Ala) c.608+8A>C c.377A>C (p.Glu126Ala) c.425A>C (p.Glu142Ala) c.223A>C n.811A>C c.635A>C (p.Glu212Ala) | |
| 4 | g.6291362A>G | CA356172173 | WFS1 | c.626A>G (p.Glu209Gly) c.608+8A>G c.377A>G (p.Glu126Gly) c.425A>G (p.Glu142Gly) c.223A>G n.811A>G c.635A>G (p.Glu212Gly) | |
| 4 | g.6291362A>T | CA356172174 | WFS1 | c.626A>T (p.Glu209Val) c.608+8A>T c.377A>T (p.Glu126Val) c.425A>T (p.Glu142Val) c.223A>T n.811A>T c.635A>T (p.Glu212Val) | |
| 4 | g.6291363G>A | CA438211021 | WFS1 | c.627G>A (p.Glu209=) c.608+9G>A c.378G>A (p.Glu126=) c.426G>A (p.Glu142=) c.224G>A n.812G>A c.636G>A (p.Glu212=) | gnomAD v4 |
| 4 | g.6291363G>C | CA356172175 | WFS1 | c.627G>C (p.Glu209Asp) c.608+9G>C c.378G>C (p.Glu126Asp) c.426G>C (p.Glu142Asp) c.224G>C n.812G>C c.636G>C (p.Glu212Asp) | |
| 4 | g.6291363G>T | CA356172176 | WFS1 | c.627G>T (p.Glu209Asp) c.608+9G>T c.378G>T (p.Glu126Asp) c.426G>T (p.Glu142Asp) c.224G>T n.812G>T c.636G>T (p.Glu212Asp) | |
| 4 | g.6291364C>A | CA356172177 | WFS1 | c.628C>A (p.His210Asn) c.608+10C>A c.379C>A (p.His127Asn) c.427C>A (p.His143Asn) c.225C>A n.813C>A c.637C>A (p.His213Asn) | |
| 4 | g.6291364C= | CA1435768646 | WFS1 | c.628C= (p.His210=) c.608+10C= c.379C= (p.His127=) c.427C= (p.His143=) c.225C= n.813C= c.637C= (p.His213=) | |
| 4 | g.6291364C>G | CA356172178 | WFS1 | c.628C>G (p.His210Asp) c.608+10C>G c.379C>G (p.His127Asp) c.427C>G (p.His143Asp) c.225C>G n.813C>G c.637C>G (p.His213Asp) | |
| 4 | g.6291364C>T | CA356172179 | WFS1 | c.628C>T (p.His210Tyr) c.608+10C>T c.379C>T (p.His127Tyr) c.427C>T (p.His143Tyr) c.225C>T n.813C>T c.637C>T (p.His213Tyr) | dbSNP |
| 4 | g.6291365A>C | CA356172182 | WFS1 | c.629A>C (p.His210Pro) c.608+11A>C c.380A>C (p.His127Pro) c.428A>C (p.His143Pro) c.226A>C n.814A>C c.638A>C (p.His213Pro) | |
| 4 | g.6291365A>G | CA356172180 | WFS1 | c.629A>G (p.His210Arg) c.608+11A>G c.380A>G (p.His127Arg) c.428A>G (p.His143Arg) c.226A>G n.814A>G c.638A>G (p.His213Arg) | |
| 4 | g.6291365A>T | CA356172181 | WFS1 | c.629A>T (p.His210Leu) c.608+11A>T c.380A>T (p.His127Leu) c.428A>T (p.His143Leu) c.226A>T n.814A>T c.638A>T (p.His213Leu) | |
| 4 | g.6291365dup | CA2669825957 | WFS1 | c.629dup (p.His210GlnfsTer?) c.608+11dup c.380dup (p.His127GlnfsTer?) c.428dup (p.His143GlnfsTer?) c.226dup n.814dup c.638dup (p.His213GlnfsTer?) | gnomAD v4 |
| 4 | g.6291366C>A | CA356172183 | WFS1 | c.630C>A (p.His210Gln) c.608+12C>A c.381C>A (p.His127Gln) c.429C>A (p.His143Gln) c.227C>A n.815C>A c.639C>A (p.His213Gln) | |
| 4 | g.6291366C= | CA1435768647 | WFS1 | c.630C= (p.His210=) c.608+12C= c.381C= (p.His127=) c.429C= (p.His143=) c.227C= n.815C= c.639C= (p.His213=) | |
| 4 | g.6291366C>G | CA356172184 | WFS1 | c.630C>G (p.His210Gln) c.608+12C>G c.381C>G (p.His127Gln) c.429C>G (p.His143Gln) c.227C>G n.815C>G c.639C>G (p.His213Gln) | |
| 4 | g.6291366C>T | CA2838955 | WFS1 | c.630C>T (p.His210=) c.608+12C>T c.381C>T (p.His127=) c.429C>T (p.His143=) c.227C>T n.815C>T c.639C>T (p.His213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291367G>A | CA320894 | WFS1 | c.631G>A (p.Asp211Asn) c.608+13G>A c.631G>A (p.Gly211Ser) c.382G>A (p.Asp128Asn) c.430G>A (p.Asp144Asn) c.228G>A n.816G>A c.640G>A (p.Asp214Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291367G>C | CA356172185 | WFS1 | c.631G>C (p.Asp211His) c.608+13G>C c.631G>C (p.Gly211Arg) c.382G>C (p.Asp128His) c.430G>C (p.Asp144His) c.228G>C n.816G>C c.640G>C (p.Asp214His) | gnomAD v4 |
| 4 | g.6291367G= | CA1435768648 | WFS1 | c.631G= (p.Asp211=) c.608+13G= c.631G= (p.Gly211=) c.382G= (p.Asp128=) c.430G= (p.Asp144=) c.228G= n.816G= c.640G= (p.Asp214=) | |
| 4 | g.6291367G>T | CA356172186 | WFS1 | c.631G>T (p.Asp211Tyr) c.608+13G>T c.631G>T (p.Gly211Cys) c.382G>T (p.Asp128Tyr) c.430G>T (p.Asp144Tyr) c.228G>T n.816G>T c.640G>T (p.Asp214Tyr) | |
| 4 | g.6291368del | CA2586973596 | WFS1 | c.631+1del c.608+14del c.632del (p.Gly211ValfsTer?) c.382+1del c.430+1del c.228+1del n.816+1del c.640+1del | |
| 4 | g.6291368G>A | CA356172187 | WFS1 | c.631+1G>A (n.631+1G>A) c.608+14G>A c.632G>A (p.Gly211Asp) c.382+1G>A (n.382+1G>A) c.430+1G>A (n.430+1G>A) c.228+1G>A n.816+1G>A c.640+1G>A (n.640+1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291368G>C | CA356172188 | WFS1 | c.631+1G>C (n.631+1G>C) c.608+14G>C c.632G>C (p.Gly211Ala) c.382+1G>C (n.382+1G>C) c.430+1G>C (n.430+1G>C) c.228+1G>C n.816+1G>C c.640+1G>C (n.640+1G>C) | |
| 4 | g.6291368G= | CA1435768649 | WFS1 | c.631+1G= (n.631+1G=) c.608+14G= c.632G= (p.Gly211=) c.382+1G= (n.382+1G=) c.430+1G= (n.430+1G=) c.228+1G= n.816+1G= c.640+1G= (n.640+1G=) | |
| 4 | g.6291368G>T | CA356172189 | WFS1 | c.631+1G>T (n.631+1G>T) c.608+14G>T c.632G>T (p.Gly211Val) c.382+1G>T (n.382+1G>T) c.430+1G>T (n.430+1G>T) c.228+1G>T n.816+1G>T c.640+1G>T (n.640+1G>T) | |
| 4 | g.6291369T>A | CA356172190 | WFS1 | c.631+2T>A (n.631+2T>A) c.608+15T>A c.633T>A (p.Gly211=) c.382+2T>A (n.382+2T>A) c.430+2T>A (n.430+2T>A) c.228+2T>A n.816+2T>A c.640+2T>A (n.640+2T>A) | |
| 4 | g.6291369T>C | CA356172191 | WFS1 | c.631+2T>C (n.631+2T>C) c.608+15T>C c.633T>C (p.Gly211=) c.382+2T>C (n.382+2T>C) c.430+2T>C (n.430+2T>C) c.228+2T>C n.816+2T>C c.640+2T>C (n.640+2T>C) | gnomAD v4 |
| 4 | g.6291369T>G | CA91794582 | WFS1 | c.631+2T>G (n.631+2T>G) c.608+15T>G c.633T>G (p.Gly211=) c.382+2T>G (n.382+2T>G) c.430+2T>G (n.430+2T>G) c.228+2T>G n.816+2T>G c.640+2T>G (n.640+2T>G) | ClinVar dbSNP |
| 4 | g.6291369T= | CA1435768650 | WFS1 | c.631+2T= (n.631+2T=) c.608+15T= c.633T= (p.Gly211=) c.382+2T= (n.382+2T=) c.430+2T= (n.430+2T=) c.228+2T= n.816+2T= c.640+2T= (n.640+2T=) | |
| 4 | g.6291370G>A | CA2838956 | WFS1 | c.631+3G>A (n.631+3G>A) c.608+16G>A c.634G>A (p.Ala212Thr) c.382+3G>A (n.382+3G>A) c.430+3G>A (n.430+3G>A) c.228+3G>A n.816+3G>A c.640+3G>A (n.640+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291370G= | CA1435768651 | WFS1 | c.631+3G= (n.631+3G=) c.608+16G= c.634G= (p.Ala212=) c.382+3G= (n.382+3G=) c.430+3G= (n.430+3G=) c.228+3G= n.816+3G= c.640+3G= (n.640+3G=) | |
| 4 | g.6291371C= | CA1435768652 | WFS1 | c.631+4C= (n.631+4C=) c.608+17C= c.635C= (p.Ala212=) c.382+4C= (n.382+4C=) c.430+4C= (n.430+4C=) c.228+4C= n.816+4C= c.640+4C= (n.640+4C=) | |
| 4 | g.6291371C>G | CA2838958 | WFS1 | c.631+4C>G (n.631+4C>G) c.608+17C>G c.635C>G (p.Ala212Gly) c.382+4C>G (n.382+4C>G) c.430+4C>G (n.430+4C>G) c.228+4C>G n.816+4C>G c.640+4C>G (n.640+4C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291371C>T | CA2838957 | WFS1 | c.631+4C>T (n.631+4C>T) c.608+17C>T c.635C>T (p.Ala212Val) c.382+4C>T (n.382+4C>T) c.430+4C>T (n.430+4C>T) c.228+4C>T n.816+4C>T c.640+4C>T (n.640+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291372G>A | CA323223 | WFS1 | c.631+5G>A (n.631+5G>A) c.608+18G>A c.636G>A (p.Ala212=) c.382+5G>A (n.382+5G>A) c.430+5G>A (n.430+5G>A) c.228+5G>A n.816+5G>A c.640+5G>A (n.640+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6291372G= | CA1435768653 | WFS1 | c.631+5G= (n.631+5G=) c.608+18G= c.636G= (p.Ala212=) c.382+5G= (n.382+5G=) c.430+5G= (n.430+5G=) c.228+5G= n.816+5G= c.640+5G= (n.640+5G=) | |
| 4 | g.6291372G>T | CA2669825970 | WFS1 | c.631+5G>T (n.631+5G>T) c.608+18G>T c.636G>T (p.Ala212=) c.382+5G>T (n.382+5G>T) c.430+5G>T (n.430+5G>T) c.228+5G>T n.816+5G>T c.640+5G>T (n.640+5G>T) | gnomAD v4 |
| 4 | g.6291374G>A | CA91794583 | WFS1 | c.631+7G>A (n.631+7G>A) c.608+20G>A c.638G>A (p.Arg213Lys) c.382+7G>A (n.382+7G>A) c.430+7G>A (n.430+7G>A) c.228+7G>A n.816+7G>A c.640+7G>A (n.640+7G>A) | dbSNP gnomAD v4 |
| 4 | g.6291374G= | CA1435768654 | WFS1 | c.631+7G= (n.631+7G=) c.608+20G= c.638G= (p.Arg213=) c.382+7G= (n.382+7G=) c.430+7G= (n.430+7G=) c.228+7G= n.816+7G= c.640+7G= (n.640+7G=) | |
| 4 | g.6291375G>C | CA2838959 | WFS1 | c.631+8G>C (n.631+8G>C) c.608+21G>C c.639G>C (p.Arg213Ser) c.382+8G>C (n.382+8G>C) c.430+8G>C (n.430+8G>C) c.228+8G>C n.816+8G>C c.640+8G>C (n.640+8G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291375G= | CA1435768655 | WFS1 | c.631+8G= (n.631+8G=) c.608+21G= c.639G= (p.Arg213=) c.382+8G= (n.382+8G=) c.430+8G= (n.430+8G=) c.228+8G= n.816+8G= c.640+8G= (n.640+8G=) | |
| 4 | g.6291375G>T | CA2669825971 | WFS1 | c.631+8G>T (n.631+8G>T) c.608+21G>T c.639G>T (p.Arg213Ser) c.382+8G>T (n.382+8G>T) c.430+8G>T (n.430+8G>T) c.228+8G>T n.816+8G>T c.640+8G>T (n.640+8G>T) | gnomAD v4 |
| 4 | g.6291378T>A | CA2669825975 | WFS1 | c.631+11T>A (n.631+11T>A) c.608+24T>A c.642T>A (p.Ile214=) c.382+11T>A (n.382+11T>A) c.430+11T>A (n.430+11T>A) c.228+11T>A n.816+11T>A c.640+11T>A (n.640+11T>A) | gnomAD v4 |
| 4 | g.6291378T>C | CA2838960 | WFS1 | c.631+11T>C (n.631+11T>C) c.608+24T>C c.642T>C (p.Ile214=) c.382+11T>C (n.382+11T>C) c.430+11T>C (n.430+11T>C) c.228+11T>C n.816+11T>C c.640+11T>C (n.640+11T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291378T= | CA1435768656 | WFS1 | c.631+11T= (n.631+11T=) c.608+24T= c.642T= (p.Ile214=) c.382+11T= (n.382+11T=) c.430+11T= (n.430+11T=) c.228+11T= n.816+11T= c.640+11T= (n.640+11T=) | |
| 4 | g.6291379C= | CA1435768657 | WFS1 | c.631+12C= (n.631+12C=) c.608+25C= c.643C= (p.His215=) c.382+12C= (n.382+12C=) c.430+12C= (n.430+12C=) c.228+12C= n.816+12C= c.640+12C= (n.640+12C=) | |
| 4 | g.6291379C>T | CA2838961 | WFS1 | c.631+12C>T (n.631+12C>T) c.608+25C>T c.643C>T (p.His215Tyr) c.382+12C>T (n.382+12C>T) c.430+12C>T (n.430+12C>T) c.228+12C>T n.816+12C>T c.640+12C>T (n.640+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291380A>C | CA2669825980 | WFS1 | c.631+13A>C (n.631+13A>C) c.608+26A>C c.644A>C (p.His215Pro) c.382+13A>C (n.382+13A>C) c.430+13A>C (n.430+13A>C) c.228+13A>C n.816+13A>C c.640+13A>C (n.640+13A>C) | gnomAD v4 |
| 4 | g.6291380_6291396dup | CA797127878 | WFS1 | c.631+13_631+29dup (n.631+13_631+29dup) c.608+26_608+42dup c.644_660dup (p.Ser221ThrfsTer?) c.382+13_382+29dup (n.382+13_382+29dup) c.430+13_430+29dup (n.430+13_430+29dup) c.228+13_228+29dup n.816+13_816+29dup c.640+13_640+29dup (n.640+13_640+29dup) | dbSNP gnomAD v4 |
| 4 | g.6291380_6291397delinsACCCTGGGCACCAGCCTT | CA1435768658 | WFS1 | c.631+13_631+30delinsACCCTGGGCACCAGCCTT (n.631+13_631+30delinsACCCTGGGCACCAGCCTT) c.608+26_608+43delinsACCCTGGGCACCAGCCTT c.644_661delinsACCCTGGGCACCAGCCTT (p.His215=) c.382+13_382+30delinsACCCTGGGCACCAGCCTT (n.382+13_382+30delinsACCCTGGGCACCAGCCTT) c.430+13_430+30delinsACCCTGGGCACCAGCCTT (n.430+13_430+30delinsACCCTGGGCACCAGCCTT) c.228+13_228+30delinsACCCTGGGCACCAGCCTT n.816+13_816+30delinsACCCTGGGCACCAGCCTT c.640+13_640+30delinsACCCTGGGCACCAGCCTT (n.640+13_640+30delinsACCCTGGGCACCAGCCTT) | |
| 4 | g.6291381C= | CA1435768659 | WFS1 | c.631+14C= (n.631+14C=) c.608+27C= c.645C= (p.His215=) c.382+14C= (n.382+14C=) c.430+14C= (n.430+14C=) c.228+14C= n.816+14C= c.640+14C= (n.640+14C=) | |
| 4 | g.6291381C>T | CA549707976 | WFS1 | c.631+14C>T (n.631+14C>T) c.608+27C>T c.645C>T (p.His215=) c.382+14C>T (n.382+14C>T) c.430+14C>T (n.430+14C>T) c.228+14C>T n.816+14C>T c.640+14C>T (n.640+14C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6291389_6291405dup | CA2669825981 | WFS1 | c.631+22_631+38dup (n.631+22_631+38dup) c.608+35_608+51dup c.653_669dup (p.Ala224ThrfsTer?) c.382+22_382+38dup (n.382+22_382+38dup) c.430+22_430+38dup (n.430+22_430+38dup) c.228+22_228+38dup n.816+22_816+38dup c.640+22_640+38dup (n.640+22_640+38dup) | gnomAD v4 |
| 4 | g.6291389_6291405del | CA797127881 | WFS1 | c.631+22_631+38del (n.631+22_631+38del) c.608+35_608+51del c.653_669del (p.His218ArgfsTer?) c.382+22_382+38del (n.382+22_382+38del) c.430+22_430+38del (n.430+22_430+38del) c.228+22_228+38del n.816+22_816+38del c.640+22_640+38del (n.640+22_640+38del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291382C>A | CA2669825982 | WFS1 | c.631+15C>A (n.631+15C>A) c.608+28C>A c.646C>A (p.Pro216Thr) c.382+15C>A (n.382+15C>A) c.430+15C>A (n.430+15C>A) c.228+15C>A n.816+15C>A c.640+15C>A (n.640+15C>A) | gnomAD v4 |
| 4 | g.6291382C= | CA1435768661 | WFS1 | c.631+15C= (n.631+15C=) c.608+28C= c.646C= (p.Pro216=) c.382+15C= (n.382+15C=) c.430+15C= (n.430+15C=) c.228+15C= n.816+15C= c.640+15C= (n.640+15C=) | |
| 4 | g.6291382C>T | CA1435768660 | WFS1 | c.631+15C>T (n.631+15C>T) c.608+28C>T c.646C>T (p.Pro216Ser) c.382+15C>T (n.382+15C>T) c.430+15C>T (n.430+15C>T) c.228+15C>T n.816+15C>T c.640+15C>T (n.640+15C>T) | dbSNP |
| 4 | g.6291382_6291383insAC | CA2838962 | WFS1 | c.631+15_631+16insAC (n.631+15_631+16insAC) c.608+28_608+29insAC c.646_647insAC (p.Pro216HisfsTer?) c.382+15_382+16insAC (n.382+15_382+16insAC) c.430+15_430+16insAC (n.430+15_430+16insAC) c.228+15_228+16insAC n.816+15_816+16insAC c.640+15_640+16insAC (n.640+15_640+16insAC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291383C>A | CA2578035749 | WFS1 | c.631+16C>A (n.631+16C>A) c.608+29C>A c.647C>A (p.Pro216His) c.382+16C>A (n.382+16C>A) c.430+16C>A (n.430+16C>A) c.228+16C>A n.816+16C>A c.640+16C>A (n.640+16C>A) | |
| 4 | g.6291383C>T | CA2669825983 | WFS1 | c.631+16C>T (n.631+16C>T) c.608+29C>T c.647C>T (p.Pro216Leu) c.382+16C>T (n.382+16C>T) c.430+16C>T (n.430+16C>T) c.228+16C>T n.816+16C>T c.640+16C>T (n.640+16C>T) | gnomAD v4 |
| 4 | g.6291384T= | CA1435768662 | WFS1 | c.631+17T= (n.631+17T=) c.608+30T= c.648T= (p.Pro216=) c.382+17T= (n.382+17T=) c.430+17T= (n.430+17T=) c.228+17T= n.816+17T= c.640+17T= (n.640+17T=) | |
| 4 | g.6291384_6291385insC | CA2838963 | WFS1 | c.631+17_631+18insC (n.631+17_631+18insC) c.608+30_608+31insC c.648_649insC (p.Gly217ArgfsTer?) c.382+17_382+18insC (n.382+17_382+18insC) c.430+17_430+18insC (n.430+17_430+18insC) c.228+17_228+18insC n.816+17_816+18insC c.640+17_640+18insC (n.640+17_640+18insC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291385G>A | CA438211024 | WFS1 | c.631+18G>A (n.631+18G>A) c.608+31G>A c.649G>A (p.Gly217Arg) c.382+18G>A (n.382+18G>A) c.430+18G>A (n.430+18G>A) c.228+18G>A n.816+18G>A c.640+18G>A (n.640+18G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291385G>C | CA2578035750 | WFS1 | c.631+18G>C (n.631+18G>C) c.608+31G>C c.649G>C (p.Gly217Arg) c.382+18G>C (n.382+18G>C) c.430+18G>C (n.430+18G>C) c.228+18G>C n.816+18G>C c.640+18G>C (n.640+18G>C) | |
| 4 | g.6291385G= | CA1435768663 | WFS1 | c.631+18G= (n.631+18G=) c.608+31G= c.649G= (p.Gly217=) c.382+18G= (n.382+18G=) c.430+18G= (n.430+18G=) c.228+18G= n.816+18G= c.640+18G= (n.640+18G=) | |
| 4 | g.6291385_6291386insCACCACGGTGCGAGGAA | CA2838964 | WFS1 | c.631+18_631+19insCACCACGGTGCGAGGAA (n.631+18_631+19insCACCACGGTGCGAGGAA) c.608+31_608+32insCACCACGGTGCGAGGAA c.649_650insCACCACGGTGCGAGGAA (p.Gly217AlafsTer?) c.382+18_382+19insCACCACGGTGCGAGGAA (n.382+18_382+19insCACCACGGTGCGAGGAA) c.430+18_430+19insCACCACGGTGCGAGGAA (n.430+18_430+19insCACCACGGTGCGAGGAA) c.228+18_228+19insCACCACGGTGCGAGGAA n.816+18_816+19insCACCACGGTGCGAGGAA c.640+18_640+19insCACCACGGTGCGAGGAA (n.640+18_640+19insCACCACGGTGCGAGGAA) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291386G>C | CA1435768665 | WFS1 | c.631+19G>C (n.631+19G>C) c.608+32G>C c.650G>C (p.Gly217Ala) c.382+19G>C (n.382+19G>C) c.430+19G>C (n.430+19G>C) c.228+19G>C n.816+19G>C c.640+19G>C (n.640+19G>C) | dbSNP gnomAD v4 |
| 4 | g.6291386G= | CA1435768664 | WFS1 | c.631+19G= (n.631+19G=) c.608+32G= c.650G= (p.Gly217=) c.382+19G= (n.382+19G=) c.430+19G= (n.430+19G=) c.228+19G= n.816+19G= c.640+19G= (n.640+19G=) | |
| 4 | g.6291386_6291387insCC | CA2760283877 | WFS1 | c.631+19_631+20insCC (n.631+19_631+20insCC) c.608+32_608+33insCC c.650_651insCC (p.His218ArgfsTer?) c.382+19_382+20insCC (n.382+19_382+20insCC) c.430+19_430+20insCC (n.430+19_430+20insCC) c.228+19_228+20insCC n.816+19_816+20insCC c.640+19_640+20insCC (n.640+19_640+20insCC) | |
| 4 | g.6291387G>A | CA549707977 | WFS1 | c.631+20G>A (n.631+20G>A) c.608+33G>A c.651G>A (p.Gly217=) c.382+20G>A (n.382+20G>A) c.430+20G>A (n.430+20G>A) c.228+20G>A n.816+20G>A c.640+20G>A (n.640+20G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291387G>C | CA2760283878 | WFS1 | c.631+20G>C (n.631+20G>C) c.608+33G>C c.651G>C (p.Gly217=) c.382+20G>C (n.382+20G>C) c.430+20G>C (n.430+20G>C) c.228+20G>C n.816+20G>C c.640+20G>C (n.640+20G>C) | |
| 4 | g.6291387G= | CA1435768666 | WFS1 | c.631+20G= (n.631+20G=) c.608+33G= c.651G= (p.Gly217=) c.382+20G= (n.382+20G=) c.430+20G= (n.430+20G=) c.228+20G= n.816+20G= c.640+20G= (n.640+20G=) | |
| 4 | g.6291387G>T | CA2669825984 | WFS1 | c.631+20G>T (n.631+20G>T) c.608+33G>T c.651G>T (p.Gly217=) c.382+20G>T (n.382+20G>T) c.430+20G>T (n.430+20G>T) c.228+20G>T n.816+20G>T c.640+20G>T (n.640+20G>T) | gnomAD v4 |
| 4 | g.6291387_6291388insACATTCTCCAACACCCAACCAAACACACCCAACA | CA2760283881 | WFS1 | c.631+20_631+21insACATTCTCCAACACCCAACCAAACACACCCAACA (n.631+20_631+21insACATTCTCCAACACCCAACCAAACACACCCAACA) c.608+33_608+34insACATTCTCCAACACCCAACCAAACACACCCAACA c.651_652insACATTCTCCAACACCCAACCAAACACACCCAACA (p.His218ThrfsTer?) c.382+20_382+21insACATTCTCCAACACCCAACCAAACACACCCAACA (n.382+20_382+21insACATTCTCCAACACCCAACCAAACACACCCAACA) c.430+20_430+21insACATTCTCCAACACCCAACCAAACACACCCAACA (n.430+20_430+21insACATTCTCCAACACCCAACCAAACACACCCAACA) c.228+20_228+21insACATTCTCCAACACCCAACCAAACACACCCAACA n.816+20_816+21insACATTCTCCAACACCCAACCAAACACACCCAACA c.640+20_640+21insACATTCTCCAACACCCAACCAAACACACCCAACA (n.640+20_640+21insACATTCTCCAACACCCAACCAAACACACCCAACA) | |
| 4 | g.6291388C>A | CA2509578412 | WFS1 | c.631+21C>A (n.631+21C>A) c.608+34C>A c.652C>A (p.His218Asn) c.382+21C>A (n.382+21C>A) c.430+21C>A (n.430+21C>A) c.228+21C>A n.816+21C>A c.640+21C>A (n.640+21C>A) | |
| 4 | g.6291388C= | CA1435768667 | WFS1 | c.631+21C= (n.631+21C=) c.608+34C= c.652C= (p.His218=) c.382+21C= (n.382+21C=) c.430+21C= (n.430+21C=) c.228+21C= n.816+21C= c.640+21C= (n.640+21C=) | |
| 4 | g.6291388C>T | CA549707978 | WFS1 | c.631+21C>T (n.631+21C>T) c.608+34C>T c.652C>T (p.His218Tyr) c.382+21C>T (n.382+21C>T) c.430+21C>T (n.430+21C>T) c.228+21C>T n.816+21C>T c.640+21C>T (n.640+21C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291389A= | CA1435768668 | WFS1 | c.631+22A= (n.631+22A=) c.608+35A= c.653A= (p.His218=) c.382+22A= (n.382+22A=) c.430+22A= (n.430+22A=) c.228+22A= n.816+22A= c.640+22A= (n.640+22A=) | |
| 4 | g.6291389A>G | CA2838965 | WFS1 | c.631+22A>G (n.631+22A>G) c.608+35A>G c.653A>G (p.His218Arg) c.382+22A>G (n.382+22A>G) c.430+22A>G (n.430+22A>G) c.228+22A>G n.816+22A>G c.640+22A>G (n.640+22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291389_6291406delinsACCAGCCTTCCCTGGGCG | CA1435768669 | WFS1 | c.631+22_631+39delinsACCAGCCTTCCCTGGGCG (n.631+22_631+39delinsACCAGCCTTCCCTGGGCG) c.608+35_608+52delinsACCAGCCTTCCCTGGGCG c.653_670delinsACCAGCCTTCCCTGGGCG (p.His218=) c.382+22_382+39delinsACCAGCCTTCCCTGGGCG (n.382+22_382+39delinsACCAGCCTTCCCTGGGCG) c.430+22_430+39delinsACCAGCCTTCCCTGGGCG (n.430+22_430+39delinsACCAGCCTTCCCTGGGCG) c.228+22_228+39delinsACCAGCCTTCCCTGGGCG n.816+22_816+39delinsACCAGCCTTCCCTGGGCG c.640+22_640+39delinsACCAGCCTTCCCTGGGCG (n.640+22_640+39delinsACCAGCCTTCCCTGGGCG) | |
| 4 | g.6291390C>A | CA2561026765 | WFS1 | c.631+23C>A (n.631+23C>A) c.608+36C>A c.654C>A (p.His218Gln) c.382+23C>A (n.382+23C>A) c.430+23C>A (n.430+23C>A) c.228+23C>A n.816+23C>A c.640+23C>A (n.640+23C>A) | gnomAD v4 |
| 4 | g.6291390C= | CA1435768670 | WFS1 | c.631+23C= (n.631+23C=) c.608+36C= c.654C= (p.His218=) c.382+23C= (n.382+23C=) c.430+23C= (n.430+23C=) c.228+23C= n.816+23C= c.640+23C= (n.640+23C=) | |
| 4 | g.6291390C>G | CA2669825985 | WFS1 | c.631+23C>G (n.631+23C>G) c.608+36C>G c.654C>G (p.His218Gln) c.382+23C>G (n.382+23C>G) c.430+23C>G (n.430+23C>G) c.228+23C>G n.816+23C>G c.640+23C>G (n.640+23C>G) | gnomAD v4 |
| 4 | g.6291390C>T | CA2838967 | WFS1 | c.631+23C>T (n.631+23C>T) c.608+36C>T c.654C>T (p.His218=) c.382+23C>T (n.382+23C>T) c.430+23C>T (n.430+23C>T) c.228+23C>T n.816+23C>T c.640+23C>T (n.640+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291401_6291417dup | CA2669825986 | WFS1 | c.631+34_631+50dup (n.631+34_631+50dup) c.608+47_608+63dup c.665_681dup (p.Thr228TrpfsTer?) c.382+34_382+50dup (n.382+34_382+50dup) c.430+34_430+50dup (n.430+34_430+50dup) c.228+34_228+50dup n.816+34_816+50dup c.640+34_640+50dup (n.640+34_640+50dup) | gnomAD v4 |
| 4 | g.6291401_6291417del | CA2838966 | WFS1 | c.631+34_631+50del (n.631+34_631+50del) c.608+47_608+63del c.665_681del (p.Leu222HisfsTer?) c.382+34_382+50del (n.382+34_382+50del) c.430+34_430+50del (n.430+34_430+50del) c.228+34_228+50del n.816+34_816+50del c.640+34_640+50del (n.640+34_640+50del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291391C>A | CA2669825987 | WFS1 | c.631+24C>A (n.631+24C>A) c.608+37C>A c.655C>A (p.Gln219Lys) c.382+24C>A (n.382+24C>A) c.430+24C>A (n.430+24C>A) c.228+24C>A n.816+24C>A c.640+24C>A (n.640+24C>A) | gnomAD v4 |
| 4 | g.6291391C= | CA1435768671 | WFS1 | c.631+24C= (n.631+24C=) c.608+37C= c.655C= (p.Gln219=) c.382+24C= (n.382+24C=) c.430+24C= (n.430+24C=) c.228+24C= n.816+24C= c.640+24C= (n.640+24C=) | |
| 4 | g.6291391C>G | CA2669825988 | WFS1 | c.631+24C>G (n.631+24C>G) c.608+37C>G c.655C>G (p.Gln219Glu) c.382+24C>G (n.382+24C>G) c.430+24C>G (n.430+24C>G) c.228+24C>G n.816+24C>G c.640+24C>G (n.640+24C>G) | gnomAD v4 |
| 4 | g.6291391C>T | CA2838968 | WFS1 | c.631+24C>T (n.631+24C>T) c.608+37C>T c.655C>T (p.Gln219Ter) c.382+24C>T (n.382+24C>T) c.430+24C>T (n.430+24C>T) c.228+24C>T n.816+24C>T c.640+24C>T (n.640+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291392A= | CA1435768672 | WFS1 | c.631+25A= (n.631+25A=) c.608+38A= c.656A= (p.Gln219=) c.382+25A= (n.382+25A=) c.430+25A= (n.430+25A=) c.228+25A= n.816+25A= c.640+25A= (n.640+25A=) | |
| 4 | g.6291392A>G | CA91794584 | WFS1 | c.631+25A>G (n.631+25A>G) c.608+38A>G c.656A>G (p.Gln219Arg) c.382+25A>G (n.382+25A>G) c.430+25A>G (n.430+25A>G) c.228+25A>G n.816+25A>G c.640+25A>G (n.640+25A>G) | dbSNP |