Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.46038619A=CA2262113786KANSL1c.2460T= (p.Ser820=)
n.4143T=
c.2271T= (p.Ser757=)
n.457T=
c.1194T= (p.Ser398=)
c.123T= (p.Ser41=)
c.413T=
n.6677T=
n.316T=
n.99T=
n.432T=
c.2358T= (p.Ser786=)
c.1230T= (p.Ser410=)
17g.46038619A>CCA399980379KANSL1c.2460T>G (p.Ser820Arg)
n.4143T>G
c.2271T>G (p.Ser757Arg)
n.457T>G
c.1194T>G (p.Ser398Arg)
c.123T>G (p.Ser41Arg)
c.413T>G
n.6677T>G
n.316T>G
n.99T>G
n.432T>G
c.2358T>G (p.Ser786Arg)
c.1230T>G (p.Ser410Arg)
17g.46038619A>GCA500369775KANSL1c.2460T>C (p.Ser820=)
n.4143T>C
c.2271T>C (p.Ser757=)
n.457T>C
c.1194T>C (p.Ser398=)
c.123T>C (p.Ser41=)
c.413T>C
n.6677T>C
n.316T>C
n.99T>C
n.432T>C
c.2358T>C (p.Ser786=)
c.1230T>C (p.Ser410=)
 dbSNP
17g.46038619A>TCA399980377KANSL1c.2460T>A (p.Ser820Arg)
n.4143T>A
c.2271T>A (p.Ser757Arg)
n.457T>A
c.1194T>A (p.Ser398Arg)
c.123T>A (p.Ser41Arg)
c.413T>A
n.6677T>A
n.316T>A
n.99T>A
n.432T>A
c.2358T>A (p.Ser786Arg)
c.1230T>A (p.Ser410Arg)
17g.46038620C>ACA399980381KANSL1c.2459G>T (p.Ser820Ile)
n.4142G>T
c.2270G>T (p.Ser757Ile)
n.456G>T
c.1193G>T (p.Ser398Ile)
c.122G>T (p.Ser41Ile)
c.412G>T
n.6676G>T
n.315G>T
n.98G>T
n.431G>T
c.2357G>T (p.Ser786Ile)
c.1229G>T (p.Ser410Ile)
17g.46038620C>GCA399980383KANSL1c.2459G>C (p.Ser820Thr)
n.4142G>C
c.2270G>C (p.Ser757Thr)
n.456G>C
c.1193G>C (p.Ser398Thr)
c.122G>C (p.Ser41Thr)
c.412G>C
n.6676G>C
n.315G>C
n.98G>C
n.431G>C
c.2357G>C (p.Ser786Thr)
c.1229G>C (p.Ser410Thr)
17g.46038620C>TCA399980385KANSL1c.2459G>A (p.Ser820Asn)
n.4142G>A
c.2270G>A (p.Ser757Asn)
n.456G>A
c.1193G>A (p.Ser398Asn)
c.122G>A (p.Ser41Asn)
c.412G>A
n.6676G>A
n.315G>A
n.98G>A
n.431G>A
c.2357G>A (p.Ser786Asn)
c.1229G>A (p.Ser410Asn)
17g.46038621T>ACA399980388KANSL1c.2458A>T (p.Ser820Cys)
n.4141A>T
c.2269A>T (p.Ser757Cys)
n.455A>T
c.1192A>T (p.Ser398Cys)
c.121A>T (p.Ser41Cys)
c.411A>T
n.6675A>T
n.314A>T
n.97A>T
n.430A>T
c.2356A>T (p.Ser786Cys)
c.1228A>T (p.Ser410Cys)
17g.46038621T>CCA399980390KANSL1c.2458A>G (p.Ser820Gly)
n.4141A>G
c.2269A>G (p.Ser757Gly)
n.455A>G
c.1192A>G (p.Ser398Gly)
c.121A>G (p.Ser41Gly)
c.411A>G
n.6675A>G
n.314A>G
n.97A>G
n.430A>G
c.2356A>G (p.Ser786Gly)
c.1228A>G (p.Ser410Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46038621T>GCA399980391KANSL1c.2458A>C (p.Ser820Arg)
n.4141A>C
c.2269A>C (p.Ser757Arg)
n.455A>C
c.1192A>C (p.Ser398Arg)
c.121A>C (p.Ser41Arg)
c.411A>C
n.6675A>C
n.314A>C
n.97A>C
n.430A>C
c.2356A>C (p.Ser786Arg)
c.1228A>C (p.Ser410Arg)
 gnomAD v4
17g.46038621T=CA2262113787KANSL1c.2458A= (p.Ser820=)
n.4141A=
c.2269A= (p.Ser757=)
n.455A=
c.1192A= (p.Ser398=)
c.121A= (p.Ser41=)
c.411A=
n.6675A=
n.314A=
n.97A=
n.430A=
c.2356A= (p.Ser786=)
c.1228A= (p.Ser410=)
17g.46038622G>ACA500369776KANSL1c.2457C>T (p.His819=)
n.4140C>T
c.2268C>T (p.His756=)
n.454C>T
c.1191C>T (p.His397=)
c.120C>T (p.His40=)
c.410C>T
n.6674C>T
n.313C>T
n.96C>T
n.429C>T
c.2355C>T (p.His785=)
c.1227C>T (p.His409=)
17g.46038622G>CCA399980395KANSL1c.2457C>G (p.His819Gln)
n.4140C>G
c.2268C>G (p.His756Gln)
n.454C>G
c.1191C>G (p.His397Gln)
c.120C>G (p.His40Gln)
c.410C>G
n.6674C>G
n.313C>G
n.96C>G
n.429C>G
c.2355C>G (p.His785Gln)
c.1227C>G (p.His409Gln)
17g.46038622G>TCA399980394KANSL1c.2457C>A (p.His819Gln)
n.4140C>A
c.2268C>A (p.His756Gln)
n.454C>A
c.1191C>A (p.His397Gln)
c.120C>A (p.His40Gln)
c.410C>A
n.6674C>A
n.313C>A
n.96C>A
n.429C>A
c.2355C>A (p.His785Gln)
c.1227C>A (p.His409Gln)
17g.46038625_46038636delCA2638380149KANSL1c.2446_2457del (p.His816_His819del)
n.4129_4140del
c.2257_2268del (p.His753_His756del)
n.443_454del
c.1180_1191del (p.His394_His397del)
c.109_120del (p.His37_His40del)
c.399_410del
n.6663_6674del
n.302_313del
n.85_96del
n.418_429del
c.2344_2355del (p.His782_His785del)
c.1216_1227del (p.His406_His409del)
 gnomAD v4
17g.46038623T>ACA399980397KANSL1c.2456A>T (p.His819Leu)
n.4139A>T
c.2267A>T (p.His756Leu)
n.453A>T
c.1190A>T (p.His397Leu)
c.119A>T (p.His40Leu)
c.409A>T
n.6673A>T
n.312A>T
n.95A>T
n.428A>T
c.2354A>T (p.His785Leu)
c.1226A>T (p.His409Leu)
17g.46038623T>CCA399980399KANSL1c.2456A>G (p.His819Arg)
n.4139A>G
c.2267A>G (p.His756Arg)
n.453A>G
c.1190A>G (p.His397Arg)
c.119A>G (p.His40Arg)
c.409A>G
n.6673A>G
n.312A>G
n.95A>G
n.428A>G
c.2354A>G (p.His785Arg)
c.1226A>G (p.His409Arg)
17g.46038623T>GCA399980401KANSL1c.2456A>C (p.His819Pro)
n.4139A>C
c.2267A>C (p.His756Pro)
n.453A>C
c.1190A>C (p.His397Pro)
c.119A>C (p.His40Pro)
c.409A>C
n.6673A>C
n.312A>C
n.95A>C
n.428A>C
c.2354A>C (p.His785Pro)
c.1226A>C (p.His409Pro)
17g.46038624G>ACA399980402KANSL1c.2455C>T (p.His819Tyr)
n.4138C>T
c.2266C>T (p.His756Tyr)
n.452C>T
c.1189C>T (p.His397Tyr)
c.118C>T (p.His40Tyr)
c.408C>T
n.6672C>T
n.311C>T
n.94C>T
n.427C>T
c.2353C>T (p.His785Tyr)
c.1225C>T (p.His409Tyr)
17g.46038624G>CCA8618561KANSL1c.2455C>G (p.His819Asp)
n.4138C>G
c.2266C>G (p.His756Asp)
n.452C>G
c.1189C>G (p.His397Asp)
c.118C>G (p.His40Asp)
c.408C>G
n.6672C>G
n.311C>G
n.94C>G
n.427C>G
c.2353C>G (p.His785Asp)
c.1225C>G (p.His409Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46038624G=CA2262113788KANSL1c.2455C= (p.His819=)
n.4138C=
c.2266C= (p.His756=)
n.452C=
c.1189C= (p.His397=)
c.118C= (p.His40=)
c.408C=
n.6672C=
n.311C=
n.94C=
n.427C=
c.2353C= (p.His785=)
c.1225C= (p.His409=)
17g.46038624G>TCA399980404KANSL1c.2455C>A (p.His819Asn)
n.4138C>A
c.2266C>A (p.His756Asn)
n.452C>A
c.1189C>A (p.His397Asn)
c.118C>A (p.His40Asn)
c.408C>A
n.6672C>A
n.311C>A
n.94C>A
n.427C>A
c.2353C>A (p.His785Asn)
c.1225C>A (p.His409Asn)
17g.46038625T>ACA500369778KANSL1c.2454A>T (p.Pro818=)
n.4137A>T
c.2265A>T (p.Pro755=)
n.451A>T
c.1188A>T (p.Pro396=)
c.117A>T (p.Pro39=)
c.407A>T
n.6671A>T
n.310A>T
n.93A>T
n.426A>T
c.2352A>T (p.Pro784=)
c.1224A>T (p.Pro408=)
17g.46038625T>CCA500369777KANSL1c.2454A>G (p.Pro818=)
n.4137A>G
c.2265A>G (p.Pro755=)
n.451A>G
c.1188A>G (p.Pro396=)
c.117A>G (p.Pro39=)
c.407A>G
n.6671A>G
n.310A>G
n.93A>G
n.426A>G
c.2352A>G (p.Pro784=)
c.1224A>G (p.Pro408=)
 ClinVar dbSNP
17g.46038625T>GCA500369779KANSL1c.2454A>C (p.Pro818=)
n.4137A>C
c.2265A>C (p.Pro755=)
n.451A>C
c.1188A>C (p.Pro396=)
c.117A>C (p.Pro39=)
c.407A>C
n.6671A>C
n.310A>C
n.93A>C
n.426A>C
c.2352A>C (p.Pro784=)
c.1224A>C (p.Pro408=)
17g.46038626G>ACA399980407KANSL1c.2453C>T (p.Pro818Leu)
n.4136C>T
c.2264C>T (p.Pro755Leu)
n.450C>T
c.1187C>T (p.Pro396Leu)
c.116C>T (p.Pro39Leu)
c.406C>T
n.6670C>T
n.309C>T
n.92C>T
n.425C>T
c.2351C>T (p.Pro784Leu)
c.1223C>T (p.Pro408Leu)
 gnomAD v4
17g.46038626G>CCA399980410KANSL1c.2453C>G (p.Pro818Arg)
n.4136C>G
c.2264C>G (p.Pro755Arg)
n.450C>G
c.1187C>G (p.Pro396Arg)
c.116C>G (p.Pro39Arg)
c.406C>G
n.6670C>G
n.309C>G
n.92C>G
n.425C>G
c.2351C>G (p.Pro784Arg)
c.1223C>G (p.Pro408Arg)
17g.46038626G>TCA399980408KANSL1c.2453C>A (p.Pro818Gln)
n.4136C>A
c.2264C>A (p.Pro755Gln)
n.450C>A
c.1187C>A (p.Pro396Gln)
c.116C>A (p.Pro39Gln)
c.406C>A
n.6670C>A
n.309C>A
n.92C>A
n.425C>A
c.2351C>A (p.Pro784Gln)
c.1223C>A (p.Pro408Gln)
17g.46038627G>ACA399980413KANSL1c.2452C>T (p.Pro818Ser)
n.4135C>T
c.2263C>T (p.Pro755Ser)
n.449C>T
c.1186C>T (p.Pro396Ser)
c.115C>T (p.Pro39Ser)
c.405C>T
n.6669C>T
n.308C>T
n.91C>T
n.424C>T
c.2350C>T (p.Pro784Ser)
c.1222C>T (p.Pro408Ser)
17g.46038627G>CCA399980414KANSL1c.2452C>G (p.Pro818Ala)
n.4135C>G
c.2263C>G (p.Pro755Ala)
n.449C>G
c.1186C>G (p.Pro396Ala)
c.115C>G (p.Pro39Ala)
c.405C>G
n.6669C>G
n.308C>G
n.91C>G
n.424C>G
c.2350C>G (p.Pro784Ala)
c.1222C>G (p.Pro408Ala)
17g.46038627G>TCA399980416KANSL1c.2452C>A (p.Pro818Thr)
n.4135C>A
c.2263C>A (p.Pro755Thr)
n.449C>A
c.1186C>A (p.Pro396Thr)
c.115C>A (p.Pro39Thr)
c.405C>A
n.6669C>A
n.308C>A
n.91C>A
n.424C>A
c.2350C>A (p.Pro784Thr)
c.1222C>A (p.Pro408Thr)
17g.46038628A>CCA500369780KANSL1c.2451T>G (p.Pro817=)
n.4134T>G
c.2262T>G (p.Pro754=)
n.448T>G
c.1185T>G (p.Pro395=)
c.114T>G (p.Pro38=)
c.404T>G
n.6668T>G
n.307T>G
n.90T>G
n.423T>G
c.2349T>G (p.Pro783=)
c.1221T>G (p.Pro407=)
17g.46038628A>GCA500369781KANSL1c.2451T>C (p.Pro817=)
n.4134T>C
c.2262T>C (p.Pro754=)
n.448T>C
c.1185T>C (p.Pro395=)
c.114T>C (p.Pro38=)
c.404T>C
n.6668T>C
n.307T>C
n.90T>C
n.423T>C
c.2349T>C (p.Pro783=)
c.1221T>C (p.Pro407=)
17g.46038628A>TCA500369782KANSL1c.2451T>A (p.Pro817=)
n.4134T>A
c.2262T>A (p.Pro754=)
n.448T>A
c.1185T>A (p.Pro395=)
c.114T>A (p.Pro38=)
c.404T>A
n.6668T>A
n.307T>A
n.90T>A
n.423T>A
c.2349T>A (p.Pro783=)
c.1221T>A (p.Pro407=)
17g.46038629G>ACA399980418KANSL1c.2450C>T (p.Pro817Leu)
n.4133C>T
c.2261C>T (p.Pro754Leu)
n.447C>T
c.1184C>T (p.Pro395Leu)
c.113C>T (p.Pro38Leu)
c.403C>T
n.6667C>T
n.306C>T
n.89C>T
n.422C>T
c.2348C>T (p.Pro783Leu)
c.1220C>T (p.Pro407Leu)
 gnomAD v4
17g.46038629G>CCA291108148KANSL1c.2450C>G (p.Pro817Arg)
n.4133C>G
c.2261C>G (p.Pro754Arg)
n.447C>G
c.1184C>G (p.Pro395Arg)
c.113C>G (p.Pro38Arg)
c.403C>G
n.6667C>G
n.306C>G
n.89C>G
n.422C>G
c.2348C>G (p.Pro783Arg)
c.1220C>G (p.Pro407Arg)
 ClinVar dbSNP gnomAD v4
17g.46038629G=CA2262113789KANSL1c.2450C= (p.Pro817=)
n.4133C=
c.2261C= (p.Pro754=)
n.447C=
c.1184C= (p.Pro395=)
c.113C= (p.Pro38=)
c.403C=
n.6667C=
n.306C=
n.89C=
n.422C=
c.2348C= (p.Pro783=)
c.1220C= (p.Pro407=)
17g.46038629G>TCA399980419KANSL1c.2450C>A (p.Pro817His)
n.4133C>A
c.2261C>A (p.Pro754His)
n.447C>A
c.1184C>A (p.Pro395His)
c.113C>A (p.Pro38His)
c.403C>A
n.6667C>A
n.306C>A
n.89C>A
n.422C>A
c.2348C>A (p.Pro783His)
c.1220C>A (p.Pro407His)
 COSMIC
17g.46038630G>ACA8618562KANSL1c.2449C>T (p.Pro817Ser)
n.4132C>T
c.2260C>T (p.Pro754Ser)
n.446C>T
c.1183C>T (p.Pro395Ser)
c.112C>T (p.Pro38Ser)
c.402C>T
n.6666C>T
n.305C>T
n.88C>T
n.421C>T
c.2347C>T (p.Pro783Ser)
c.1219C>T (p.Pro407Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46038630G>CCA399980422KANSL1c.2449C>G (p.Pro817Ala)
n.4132C>G
c.2260C>G (p.Pro754Ala)
n.446C>G
c.1183C>G (p.Pro395Ala)
c.112C>G (p.Pro38Ala)
c.402C>G
n.6666C>G
n.305C>G
n.88C>G
n.421C>G
c.2347C>G (p.Pro783Ala)
c.1219C>G (p.Pro407Ala)
 dbSNP
17g.46038630G=CA2262113790KANSL1c.2449C= (p.Pro817=)
n.4132C=
c.2260C= (p.Pro754=)
n.446C=
c.1183C= (p.Pro395=)
c.112C= (p.Pro38=)
c.402C=
n.6666C=
n.305C=
n.88C=
n.421C=
c.2347C= (p.Pro783=)
c.1219C= (p.Pro407=)
17g.46038630G>TCA399980423KANSL1c.2449C>A (p.Pro817Thr)
n.4132C>A
c.2260C>A (p.Pro754Thr)
n.446C>A
c.1183C>A (p.Pro395Thr)
c.112C>A (p.Pro38Thr)
c.402C>A
n.6666C>A
n.305C>A
n.88C>A
n.421C>A
c.2347C>A (p.Pro783Thr)
c.1219C>A (p.Pro407Thr)
17g.46038631A>CCA399980424KANSL1c.2448T>G (p.His816Gln)
n.4131T>G
c.2259T>G (p.His753Gln)
n.445T>G
c.1182T>G (p.His394Gln)
c.111T>G (p.His37Gln)
c.401T>G
n.6665T>G
n.304T>G
n.87T>G
n.420T>G
c.2346T>G (p.His782Gln)
c.1218T>G (p.His406Gln)
 gnomAD v4
17g.46038631A>GCA500369783KANSL1c.2448T>C (p.His816=)
n.4131T>C
c.2259T>C (p.His753=)
n.445T>C
c.1182T>C (p.His394=)
c.111T>C (p.His37=)
c.401T>C
n.6665T>C
n.304T>C
n.87T>C
n.420T>C
c.2346T>C (p.His782=)
c.1218T>C (p.His406=)
17g.46038631A>TCA399980426KANSL1c.2448T>A (p.His816Gln)
n.4131T>A
c.2259T>A (p.His753Gln)
n.445T>A
c.1182T>A (p.His394Gln)
c.111T>A (p.His37Gln)
c.401T>A
n.6665T>A
n.304T>A
n.87T>A
n.420T>A
c.2346T>A (p.His782Gln)
c.1218T>A (p.His406Gln)
17g.46038632T>ACA399980431KANSL1c.2447A>T (p.His816Leu)
n.4130A>T
c.2258A>T (p.His753Leu)
n.444A>T
c.1181A>T (p.His394Leu)
c.110A>T (p.His37Leu)
c.400A>T
n.6664A>T
n.303A>T
n.86A>T
n.419A>T
c.2345A>T (p.His782Leu)
c.1217A>T (p.His406Leu)
17g.46038632T>CCA399980429KANSL1c.2447A>G (p.His816Arg)
n.4130A>G
c.2258A>G (p.His753Arg)
n.444A>G
c.1181A>G (p.His394Arg)
c.110A>G (p.His37Arg)
c.400A>G
n.6664A>G
n.303A>G
n.86A>G
n.419A>G
c.2345A>G (p.His782Arg)
c.1217A>G (p.His406Arg)
 ClinVar dbSNP
17g.46038632T>GCA399980427KANSL1c.2447A>C (p.His816Pro)
n.4130A>C
c.2258A>C (p.His753Pro)
n.444A>C
c.1181A>C (p.His394Pro)
c.110A>C (p.His37Pro)
c.400A>C
n.6664A>C
n.303A>C
n.86A>C
n.419A>C
c.2345A>C (p.His782Pro)
c.1217A>C (p.His406Pro)
17g.46038632T=CA2262113791KANSL1c.2447A= (p.His816=)
n.4130A=
c.2258A= (p.His753=)
n.444A=
c.1181A= (p.His394=)
c.110A= (p.His37=)
c.400A=
n.6664A=
n.303A=
n.86A=
n.419A=
c.2345A= (p.His782=)
c.1217A= (p.His406=)
17g.46038633G>ACA399980434KANSL1c.2446C>T (p.His816Tyr)
n.4129C>T
c.2257C>T (p.His753Tyr)
n.443C>T
c.1180C>T (p.His394Tyr)
c.109C>T (p.His37Tyr)
c.399C>T
n.6663C>T
n.302C>T
n.85C>T
n.418C>T
c.2344C>T (p.His782Tyr)
c.1216C>T (p.His406Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched