Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.138947049_138947050del | CA2578421317 | SIL1 | c.*69_*70del (n.*69_*70del) n.790_791del | |
5 | g.138947048_138947049delinsAG | CA1586100150 | SIL1 | c.*68_*69delinsCT (n.*68_*69delinsCT) n.789_790delinsCT | |
5 | g.138947049del | CA10622773 | SIL1 | c.*68del (n.*68del) n.789del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947049G>A | CA1586100152 | SIL1 | c.*68C>T (n.*68C>T) n.789C>T | dbSNP gnomAD v4 |
5 | g.138947049G= | CA1586100151 | SIL1 | c.*68C= (n.*68C=) n.789C= | |
5 | g.138947051A>G | CA2675501638 | SIL1 | c.*66T>C (n.*66T>C) n.787T>C | gnomAD v4 |
5 | g.138947051A>T | CA2675501639 | SIL1 | c.*66T>A (n.*66T>A) n.787T>A | gnomAD v4 |
5 | g.138947052G>A | CA2675501640 | SIL1 | c.*65C>T (n.*65C>T) n.786C>T | gnomAD v4 |
5 | g.138947052G>T | CA2675501641 | SIL1 | c.*65C>A (n.*65C>A) n.786C>A | gnomAD v4 |
5 | g.138947052_138947054delinsGCC | CA1586100153 | SIL1 | c.*63_*65delinsGGC (n.*63_*65delinsGGC) n.784_786delinsGGC | |
5 | g.138947053C>A | CA2675501642 | SIL1 | c.*64G>T (n.*64G>T) n.785G>T | gnomAD v4 |
5 | g.138947053C>T | CA2578421318 | SIL1 | c.*64G>A (n.*64G>A) n.785G>A | gnomAD v4 |
5 | g.138947054_138947055del | CA1082073197 | SIL1 | c.*63_*64del (n.*63_*64del) n.784_785del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947054C>T | CA2675501643 | SIL1 | c.*63G>A (n.*63G>A) n.784G>A | gnomAD v4 |
5 | g.138947055C>A | CA2675501644 | SIL1 | c.*62G>T (n.*62G>T) n.783G>T | gnomAD v4 |
5 | g.138947055C>T | CA2578421319 | SIL1 | c.*62G>A (n.*62G>A) n.783G>A | gnomAD v4 |
5 | g.138947056A>G | CA2675501645 | SIL1 | c.*61T>C (n.*61T>C) n.782T>C | gnomAD v4 |
5 | g.138947056A>T | CA2578421320 | SIL1 | c.*61T>A (n.*61T>A) n.782T>A | |
5 | g.138947056_138947057delinsAC | CA1586100154 | SIL1 | c.*60_*61delinsGT (n.*60_*61delinsGT) n.781_782delinsGT | |
5 | g.138947057C>A | CA128236101 | SIL1 | c.*60G>T (n.*60G>T) n.781G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947057C= | CA1586100155 | SIL1 | c.*60G= (n.*60G=) n.781G= | |
5 | g.138947059del | CA804574910 | SIL1 | c.*60del (n.*60del) n.781del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947058C>T | CA2675501646 | SIL1 | c.*59G>A (n.*59G>A) n.780G>A | gnomAD v4 |
5 | g.138947059C>A | CA2675501647 | SIL1 | c.*58G>T (n.*58G>T) n.779G>T | gnomAD v4 |
5 | g.138947061C>A | CA2675501648 | SIL1 | c.*56G>T (n.*56G>T) n.777G>T | gnomAD v4 |
5 | g.138947061C= | CA1586100156 | SIL1 | c.*56G= (n.*56G=) n.777G= | |
5 | g.138947061C>T | CA128236113 | SIL1 | c.*56G>A (n.*56G>A) n.777G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947062G>A | CA128236132 | SIL1 | c.*55C>T (n.*55C>T) n.776C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947062G= | CA1586100157 | SIL1 | c.*55C= (n.*55C=) n.776C= | |
5 | g.138947062G>T | CA2578421321 | SIL1 | c.*55C>A (n.*55C>A) n.776C>A | gnomAD v4 |
5 | g.138947063C>G | CA2675501649 | SIL1 | c.*54G>C (n.*54G>C) n.775G>C | gnomAD v4 |
5 | g.138947064T>C | CA128236142 | SIL1 | c.*53A>G (n.*53A>G) n.774A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947064T= | CA1586100158 | SIL1 | c.*53A= (n.*53A=) n.774A= | |
5 | g.138947065G>T | CA2675501650 | SIL1 | c.*52C>A (n.*52C>A) n.773C>A | gnomAD v4 |
5 | g.138947066G>A | CA2675501651 | SIL1 | c.*51C>T (n.*51C>T) n.772C>T | gnomAD v4 |
5 | g.138947066G>T | CA2578421322 | SIL1 | c.*51C>A (n.*51C>A) n.772C>A | gnomAD v4 |
5 | g.138947067C>A | CA2675501652 | SIL1 | c.*50G>T (n.*50G>T) n.771G>T | dbSNP gnomAD v4 |
5 | g.138947068_138947069insT | CA650313659 | SIL1 | c.*48_*49insA (n.*48_*49insA) n.769_770insA | COSMIC |
5 | g.138947069C>A | CA1586100160 | SIL1 | c.*48G>T (n.*48G>T) n.769G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947069C= | CA1586100159 | SIL1 | c.*48G= (n.*48G=) n.769G= | |
5 | g.138947069C>G | CA2710070478 | SIL1 | c.*48G>C (n.*48G>C) n.769G>C | dbSNP |
5 | g.138947069C>T | CA563498226 | SIL1 | c.*48G>A (n.*48G>A) n.769G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947070C= | CA1586100161 | SIL1 | c.*47G= (n.*47G=) n.768G= | |
5 | g.138947070C>T | CA804574917 | SIL1 | c.*47G>A (n.*47G>A) n.768G>A | dbSNP gnomAD v4 |
5 | g.138947071C= | CA1586100162 | SIL1 | c.*46G= (n.*46G=) n.767G= | |
5 | g.138947071C>T | CA3432310 | SIL1 | c.*46G>A (n.*46G>A) n.767G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947072C= | CA1586100163 | SIL1 | c.*45G= (n.*45G=) n.766G= | |
5 | g.138947072C>T | CA563498227 | SIL1 | c.*45G>A (n.*45G>A) n.766G>A | dbSNP gnomAD v2 |
5 | g.138947074C>A | CA2675501653 | SIL1 | c.*43G>T (n.*43G>T) n.764G>T | gnomAD v4 |
5 | g.138947074C= | CA1586100164 | SIL1 | c.*43G= (n.*43G=) n.764G= | |
5 | g.138947074C>T | CA3432311 | SIL1 | c.*43G>A (n.*43G>A) n.764G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947075dup | CA2675501654 | SIL1 | c.*42dup (n.*42dup) n.763dup | gnomAD v4 |
5 | g.138947076G>T | CA2675501655 | SIL1 | c.*41C>A (n.*41C>A) n.762C>A | gnomAD v4 |
5 | g.138947078C>A | CA2675501656 | SIL1 | c.*39G>T (n.*39G>T) n.760G>T | gnomAD v4 |
5 | g.138947080C>T | CA2578421323 | SIL1 | c.*37G>A (n.*37G>A) n.758G>A | |
5 | g.138947081del | CA2578421324 | SIL1 | c.*36del (n.*36del) n.757del | gnomAD v4 |
5 | g.138947082C>A | CA563498228 | SIL1 | c.*35G>T (n.*35G>T) n.756G>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947082C= | CA1586100165 | SIL1 | c.*35G= (n.*35G=) n.756G= | |
5 | g.138947082C>T | CA2675501657 | SIL1 | c.*35G>A (n.*35G>A) n.756G>A | gnomAD v4 |
5 | g.138947083_138947089delinsTAGCGGC | CA1586100166 | SIL1 | c.*28_*34delinsGCCGCTA (n.*28_*34delinsGCCGCTA) n.749_755delinsGCCGCTA | |
5 | g.138947085_138947090del | CA3432312 | SIL1 | c.*28_*33del (n.*28_*33del) n.749_754del | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.138947085G>A | CA2675501658 | SIL1 | c.*32C>T (n.*32C>T) n.753C>T | gnomAD v4 |
5 | g.138947085G>T | CA2675501659 | SIL1 | c.*32C>A (n.*32C>A) n.753C>A | gnomAD v4 |
5 | g.138947086C= | CA1586100167 | SIL1 | c.*31G= (n.*31G=) n.752G= | |
5 | g.138947086C>T | CA3432313 | SIL1 | c.*31G>A (n.*31G>A) n.752G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947087G>A | CA3432314 | SIL1 | c.*30C>T (n.*30C>T) n.751C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947087G= | CA1586100168 | SIL1 | c.*30C= (n.*30C=) n.751C= | |
5 | g.138947088G>A | CA2675501660 | SIL1 | c.*29C>T (n.*29C>T) n.750C>T | gnomAD v4 |
5 | g.138947088G>T | CA2675501661 | SIL1 | c.*29C>A (n.*29C>A) n.750C>A | gnomAD v4 |
5 | g.138947089C= | CA1586100169 | SIL1 | c.*28G= (n.*28G=) n.749G= | |
5 | g.138947089C>T | CA563498229 | SIL1 | c.*28G>A (n.*28G>A) n.749G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947092C>T | CA2578421325 | SIL1 | c.*25G>A (n.*25G>A) n.746G>A | |
5 | g.138947093C>A | CA2675501662 | SIL1 | c.*24G>T (n.*24G>T) n.745G>T | gnomAD v4 |
5 | g.138947093C= | CA1586100170 | SIL1 | c.*24G= (n.*24G=) n.745G= | |
5 | g.138947093C>T | CA563498230 | SIL1 | c.*24G>A (n.*24G>A) n.745G>A | dbSNP gnomAD v2 |
5 | g.138947094C>T | CA2578421326 | SIL1 | c.*23G>A (n.*23G>A) n.744G>A | |
5 | g.138947095dup | CA2675501663 | SIL1 | c.*22dup (n.*22dup) n.743dup | gnomAD v4 |
5 | g.138947096G>C | CA1082073210 | SIL1 | c.*21C>G (n.*21C>G) n.742C>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947096G= | CA1586100171 | SIL1 | c.*21C= (n.*21C=) n.742C= | |
5 | g.138947097T>C | CA563498231 | SIL1 | c.*20A>G (n.*20A>G) n.741A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947097T= | CA1586100172 | SIL1 | c.*20A= (n.*20A=) n.741A= | |
5 | g.138947098C>A | CA2675501664 | SIL1 | c.*19G>T (n.*19G>T) n.740G>T | gnomAD v4 |
5 | g.138947098C= | CA1586100173 | SIL1 | c.*19G= (n.*19G=) n.740G= | |
5 | g.138947098C>G | CA2675501665 | SIL1 | c.*19G>C (n.*19G>C) n.740G>C | gnomAD v4 |
5 | g.138947098C>T | CA563498232 | SIL1 | c.*19G>A (n.*19G>A) n.740G>A | dbSNP gnomAD v2 |
5 | g.138947099C>T | CA2578421327 | SIL1 | c.*18G>A (n.*18G>A) n.739G>A | gnomAD v4 |
5 | g.138947101G>T | CA2675501666 | SIL1 | c.*16C>A (n.*16C>A) n.737C>A | gnomAD v4 |
5 | g.138947102T>C | CA1586100174 | SIL1 | c.*15A>G (n.*15A>G) n.736A>G | dbSNP gnomAD v4 |
5 | g.138947102T= | CA1586100175 | SIL1 | c.*15A= (n.*15A=) n.736A= | |
5 | g.138947103C= | CA1586100176 | SIL1 | c.*14G= (n.*14G=) n.735G= | |
5 | g.138947103C>G | CA3432315 | SIL1 | c.*14G>C (n.*14G>C) n.735G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947104C= | CA1586100177 | SIL1 | c.*13G= (n.*13G=) n.734G= | |
5 | g.138947104C>G | CA3432316 | SIL1 | c.*13G>C (n.*13G>C) n.734G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.138947105T>C | CA563498233 | SIL1 | c.*12A>G (n.*12A>G) n.733A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947105T= | CA1586100178 | SIL1 | c.*12A= (n.*12A=) n.733A= | |
5 | g.138947106G>T | CA2675501668 | SIL1 | c.*11C>A (n.*11C>A) n.732C>A | gnomAD v4 |
5 | g.138947107G>A | CA563498234 | SIL1 | c.*10C>T (n.*10C>T) n.731C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947107G>C | CA128236193 | SIL1 | c.*10C>G (n.*10C>G) n.731C>G | dbSNP |
5 | g.138947107G= | CA1586100179 | SIL1 | c.*10C= (n.*10C=) n.731C= | |
5 | g.138947107G>T | CA2675501669 | SIL1 | c.*10C>A (n.*10C>A) n.731C>A | gnomAD v4 |
5 | g.138947108T>C | CA3432317 | SIL1 | c.*9A>G (n.*9A>G) n.730A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.138947108T= | CA1586100180 | SIL1 | c.*9A= (n.*9A=) n.730A= | |
5 | g.138947109G>T | CA2675501670 | SIL1 | c.*8C>A (n.*8C>A) n.729C>A | gnomAD v4 |
5 | g.138947111G>A | CA2675501671 | SIL1 | c.*6C>T (n.*6C>T) n.727C>T | gnomAD v4 |
5 | g.138947112G>A | CA563498235 | SIL1 | c.*5C>T (n.*5C>T) n.726C>T | dbSNP gnomAD v2 |
5 | g.138947112G= | CA1586100181 | SIL1 | c.*5C= (n.*5C=) n.726C= | |
5 | g.138947112G>T | CA563498236 | SIL1 | c.*5C>A (n.*5C>A) n.726C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947113G>A | CA3432318 | SIL1 | c.*4C>T (n.*4C>T) n.725C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.138947113G= | CA1586100182 | SIL1 | c.*4C= (n.*4C=) n.725C= | |
5 | g.138947114G>A | CA2768602108 | SIL1 | c.*3C>T (n.*3C>T) n.724C>T | |
5 | g.138947114G>T | CA2675501672 | SIL1 | c.*3C>A (n.*3C>A) n.724C>A | gnomAD v4 |
5 | g.138947114_138947115dup | CA1082073213 | SIL1 | c.*2_*3dup (n.*2_*3dup) n.723_724dup | dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947120_138947124del | CA2578421328 | SIL1 | c.1383_*1del (n.[c.1383_*1del;Ter462ProextTer11]) c.1404_*1del (n.[c.1404_*1del;Ter469ProextTer11]) n.718_722del c.1413_*1del (n.[c.1413_*1del;Ter472ProextTer11]) | |
5 | g.138947117T>A | CA361136305 | SIL1 | c.1386A>T (p.Ter462Cys) c.1407A>T (p.Ter469Cys) n.721A>T c.1416A>T (p.Ter472Cys) | |
5 | g.138947117T>C | CA361136306 | SIL1 | c.1386A>G (p.Ter462Trp) c.1407A>G (p.Ter469Trp) n.721A>G c.1416A>G (p.Ter472Trp) | |
5 | g.138947117T>G | CA361136307 | SIL1 | c.1386A>C (p.Ter462Cys) c.1407A>C (p.Ter469Cys) n.721A>C c.1416A>C (p.Ter472Cys) | |
5 | g.138947118C>A | CA361136308 | SIL1 | c.1385G>T (p.Ter462Leu) c.1406G>T (p.Ter469Leu) n.720G>T c.1415G>T (p.Ter472Leu) | |
5 | g.138947118C= | CA1586100183 | SIL1 | c.1385G= (p.Ter462=) c.1406G= (p.Ter469=) n.720G= c.1415G= (p.Ter472=) | |
5 | g.138947118C>G | CA361136309 | SIL1 | c.1385G>C (p.Ter462Ser) c.1406G>C (p.Ter469Ser) n.720G>C c.1415G>C (p.Ter472Ser) | |
5 | g.138947118C>T | CA446793161 | SIL1 | c.1385G>A (p.Ter462=) c.1406G>A (p.Ter469=) n.720G>A c.1415G>A (p.Ter472=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947119A>C | CA361136311 | SIL1 | c.1384T>G (p.Ter462Gly) c.1405T>G (p.Ter469Gly) n.719T>G c.1414T>G (p.Ter472Gly) | |
5 | g.138947119A>G | CA361136312 | SIL1 | c.1384T>C (p.Ter462Arg) c.1405T>C (p.Ter469Arg) n.719T>C c.1414T>C (p.Ter472Arg) | gnomAD v4 |
5 | g.138947119A>T | CA361136310 | SIL1 | c.1384T>A (p.Ter462Arg) c.1405T>A (p.Ter469Arg) n.719T>A c.1414T>A (p.Ter472Arg) | |
5 | g.138947120T>A | CA361136313 | SIL1 | c.1383A>T (p.Arg461Ser) c.1404A>T (p.Arg468Ser) n.718A>T c.1413A>T (p.Arg471Ser) | |
5 | g.138947120T>C | CA446793162 | SIL1 | c.1383A>G (p.Arg461=) c.1404A>G (p.Arg468=) n.718A>G c.1413A>G (p.Arg471=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947120T>G | CA361136314 | SIL1 | c.1383A>C (p.Arg461Ser) c.1404A>C (p.Arg468Ser) n.718A>C c.1413A>C (p.Arg471Ser) | |
5 | g.138947120T= | CA1586100184 | SIL1 | c.1383A= (p.Arg461=) c.1404A= (p.Arg468=) n.718A= c.1413A= (p.Arg471=) | |
5 | g.138947121C>A | CA361136315 | SIL1 | c.1382G>T (p.Arg461Ile) c.1403G>T (p.Arg468Ile) n.717G>T c.1412G>T (p.Arg471Ile) | |
5 | g.138947121C= | CA1586100185 | SIL1 | c.1382G= (p.Arg461=) c.1403G= (p.Arg468=) n.717G= c.1412G= (p.Arg471=) | |
5 | g.138947121C>G | CA361136316 | SIL1 | c.1382G>C (p.Arg461Thr) c.1403G>C (p.Arg468Thr) n.717G>C c.1412G>C (p.Arg471Thr) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947121C>T | CA361136317 | SIL1 | c.1382G>A (p.Arg461Lys) c.1403G>A (p.Arg468Lys) n.717G>A c.1412G>A (p.Arg471Lys) | |
5 | g.138947122T>A | CA361136318 | SIL1 | c.1381A>T (p.Arg461Ter) c.1402A>T (p.Arg468Ter) n.716A>T c.1411A>T (p.Arg471Ter) | |
5 | g.138947122T>C | CA361136319 | SIL1 | c.1381A>G (p.Arg461Gly) c.1402A>G (p.Arg468Gly) n.716A>G c.1411A>G (p.Arg471Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947122T>G | CA446793164 | SIL1 | c.1381A>C (p.Arg461=) c.1402A>C (p.Arg468=) n.716A>C c.1411A>C (p.Arg471=) | dbSNP |
5 | g.138947122T= | CA1586100186 | SIL1 | c.1381A= (p.Arg461=) c.1402A= (p.Arg468=) n.716A= c.1411A= (p.Arg471=) | |
5 | g.138947123C>A | CA128236203 | SIL1 | c.1380G>T (p.Leu460=) c.1401G>T (p.Leu467=) n.715G>T c.1410G>T (p.Leu470=) | dbSNP |
5 | g.138947123C= | CA1586100187 | SIL1 | c.1380G= (p.Leu460=) c.1401G= (p.Leu467=) n.715G= c.1410G= (p.Leu470=) | |
5 | g.138947123C>G | CA446793165 | SIL1 | c.1380G>C (p.Leu460=) c.1401G>C (p.Leu467=) n.715G>C c.1410G>C (p.Leu470=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947123C>T | CA446793166 | SIL1 | c.1380G>A (p.Leu460=) c.1401G>A (p.Leu467=) n.715G>A c.1410G>A (p.Leu470=) | |
5 | g.138947124A>C | CA361136320 | SIL1 | c.1379T>G (p.Leu460Arg) c.1400T>G (p.Leu467Arg) n.714T>G c.1409T>G (p.Leu470Arg) | |
5 | g.138947124A>G | CA361136321 | SIL1 | c.1379T>C (p.Leu460Pro) c.1400T>C (p.Leu467Pro) n.714T>C c.1409T>C (p.Leu470Pro) | |
5 | g.138947124A>T | CA361136322 | SIL1 | c.1379T>A (p.Leu460Gln) c.1400T>A (p.Leu467Gln) n.714T>A c.1409T>A (p.Leu470Gln) | |
5 | g.138947125G>A | CA446793169 | SIL1 | c.1378C>T (p.Leu460=) c.1399C>T (p.Leu467=) n.713C>T c.1408C>T (p.Leu470=) | |
5 | g.138947125G>C | CA361136323 | SIL1 | c.1378C>G (p.Leu460Val) c.1399C>G (p.Leu467Val) n.713C>G c.1408C>G (p.Leu470Val) | |
5 | g.138947125G>T | CA361136324 | SIL1 | c.1378C>A (p.Leu460Met) c.1399C>A (p.Leu467Met) n.713C>A c.1408C>A (p.Leu470Met) | |
5 | g.138947126C>A | CA361136326 | SIL1 | c.1377G>T (p.Glu459Asp) c.1398G>T (p.Glu466Asp) n.712G>T c.1407G>T (p.Glu469Asp) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947126C= | CA1586100188 | SIL1 | c.1377G= (p.Glu459=) c.1398G= (p.Glu466=) n.712G= c.1407G= (p.Glu469=) | |
5 | g.138947126C>G | CA361136325 | SIL1 | c.1377G>C (p.Glu459Asp) c.1398G>C (p.Glu466Asp) n.712G>C c.1407G>C (p.Glu469Asp) | dbSNP |
5 | g.138947126C>T | CA446793170 | SIL1 | c.1377G>A (p.Glu459=) c.1398G>A (p.Glu466=) n.712G>A c.1407G>A (p.Glu469=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947127T>A | CA361136327 | SIL1 | c.1376A>T (p.Glu459Val) c.1397A>T (p.Glu466Val) n.711A>T c.1406A>T (p.Glu469Val) | gnomAD v4 |
5 | g.138947127T>C | CA361136328 | SIL1 | c.1376A>G (p.Glu459Gly) c.1397A>G (p.Glu466Gly) n.711A>G c.1406A>G (p.Glu469Gly) | |
5 | g.138947127T>G | CA361136329 | SIL1 | c.1376A>C (p.Glu459Ala) c.1397A>C (p.Glu466Ala) n.711A>C c.1406A>C (p.Glu469Ala) | |
5 | g.138947127_138947128delinsTC | CA1586100189 | SIL1 | c.1375_1376delinsGA (p.Glu459=) c.1396_1397delinsGA (p.Glu466=) n.710_711delinsGA c.1405_1406delinsGA (p.Glu469=) | |
5 | g.138947128C>A | CA361136330 | SIL1 | c.1375G>T (p.Glu459Ter) c.1396G>T (p.Glu466Ter) n.710G>T c.1405G>T (p.Glu469Ter) | gnomAD v4 |
5 | g.138947128C>G | CA361136331 | SIL1 | c.1375G>C (p.Glu459Gln) c.1396G>C (p.Glu466Gln) n.710G>C c.1405G>C (p.Glu469Gln) | |
5 | g.138947128C>T | CA361136332 | SIL1 | c.1375G>A (p.Glu459Lys) c.1396G>A (p.Glu466Lys) n.710G>A c.1405G>A (p.Glu469Lys) | |
5 | g.138947129del | CA563498237 | SIL1 | c.1375del (p.Glu459SerfsTer2) c.1396del (p.Glu466SerfsTer2) n.710del c.1405del (p.Glu469SerfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947129C>A | CA361136333 | SIL1 | c.1374G>T (p.Lys458Asn) c.1395G>T (p.Lys465Asn) n.709G>T c.1404G>T (p.Lys468Asn) | |
5 | g.138947129C>G | CA361136334 | SIL1 | c.1374G>C (p.Lys458Asn) c.1395G>C (p.Lys465Asn) n.709G>C c.1404G>C (p.Lys468Asn) | |
5 | g.138947129C>T | CA446793173 | SIL1 | c.1374G>A (p.Lys458=) c.1395G>A (p.Lys465=) n.709G>A c.1404G>A (p.Lys468=) | |
5 | g.138947130T>A | CA361136335 | SIL1 | c.1373A>T (p.Lys458Met) c.1394A>T (p.Lys465Met) n.708A>T c.1403A>T (p.Lys468Met) | |
5 | g.138947130T>C | CA361136336 | SIL1 | c.1373A>G (p.Lys458Arg) c.1394A>G (p.Lys465Arg) n.708A>G c.1403A>G (p.Lys468Arg) | |
5 | g.138947130T>G | CA361136337 | SIL1 | c.1373A>C (p.Lys458Thr) c.1394A>C (p.Lys465Thr) n.708A>C c.1403A>C (p.Lys468Thr) | |
5 | g.138947131T>A | CA361136338 | SIL1 | c.1372A>T (p.Lys458Ter) c.1393A>T (p.Lys465Ter) n.707A>T c.1402A>T (p.Lys468Ter) | |
5 | g.138947131T>C | CA361136339 | SIL1 | c.1372A>G (p.Lys458Glu) c.1393A>G (p.Lys465Glu) n.707A>G c.1402A>G (p.Lys468Glu) | gnomAD v4 |
5 | g.138947131T>G | CA361136340 | SIL1 | c.1372A>C (p.Lys458Gln) c.1393A>C (p.Lys465Gln) n.707A>C c.1402A>C (p.Lys468Gln) | |
5 | g.138947132C>A | CA446793174 | SIL1 | c.1371G>T (p.Leu457=) c.1392G>T (p.Leu464=) n.706G>T c.1401G>T (p.Leu467=) | |
5 | g.138947132C>G | CA446793175 | SIL1 | c.1371G>C (p.Leu457=) c.1392G>C (p.Leu464=) n.706G>C c.1401G>C (p.Leu467=) | |
5 | g.138947132C>T | CA446793176 | SIL1 | c.1371G>A (p.Leu457=) c.1392G>A (p.Leu464=) n.706G>A c.1401G>A (p.Leu467=) | |
5 | g.138947133A= | CA1586100190 | SIL1 | c.1370T= (p.Leu457=) c.1391T= (p.Leu464=) n.705T= c.1400T= (p.Leu467=) | |
5 | g.138947133A>C | CA361136342 | SIL1 | c.1370T>G (p.Leu457Arg) c.1391T>G (p.Leu464Arg) n.705T>G c.1400T>G (p.Leu467Arg) | |
5 | g.138947133A>G | CA252373 | SIL1 | c.1370T>C (p.Leu457Pro) c.1391T>C (p.Leu464Pro) n.705T>C c.1400T>C (p.Leu467Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947133A>T | CA361136341 | SIL1 | c.1370T>A (p.Leu457Gln) c.1391T>A (p.Leu464Gln) n.705T>A c.1400T>A (p.Leu467Gln) | |
5 | g.138947134G>A | CA446793179 | SIL1 | c.1369C>T (p.Leu457=) c.1390C>T (p.Leu464=) n.704C>T c.1399C>T (p.Leu467=) | |
5 | g.138947134G>C | CA361136344 | SIL1 | c.1369C>G (p.Leu457Val) c.1390C>G (p.Leu464Val) n.704C>G c.1399C>G (p.Leu467Val) | |
5 | g.138947134G>T | CA361136343 | SIL1 | c.1369C>A (p.Leu457Met) c.1390C>A (p.Leu464Met) n.704C>A c.1399C>A (p.Leu467Met) | gnomAD v4 |
5 | g.138947135C>A | CA361136346 | SIL1 | c.1368G>T (p.Leu456Phe) c.1389G>T (p.Leu463Phe) n.703G>T c.1398G>T (p.Leu466Phe) | |
5 | g.138947135C= | CA1586100191 | SIL1 | c.1368G= (p.Leu456=) c.1389G= (p.Leu463=) n.703G= c.1398G= (p.Leu466=) | |
5 | g.138947135C>G | CA361136345 | SIL1 | c.1368G>C (p.Leu456Phe) c.1389G>C (p.Leu463Phe) n.703G>C c.1398G>C (p.Leu466Phe) | |
5 | g.138947135C>T | CA3432319 | SIL1 | c.1368G>A (p.Leu456=) c.1389G>A (p.Leu463=) n.703G>A c.1398G>A (p.Leu466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947136A>C | CA361136347 | SIL1 | c.1367T>G (p.Leu456Trp) c.1388T>G (p.Leu463Trp) n.702T>G c.1397T>G (p.Leu466Trp) | |
5 | g.138947136A>G | CA361136348 | SIL1 | c.1367T>C (p.Leu456Ser) c.1388T>C (p.Leu463Ser) n.702T>C c.1397T>C (p.Leu466Ser) | |
5 | g.138947136A>T | CA361136349 | SIL1 | c.1367T>A (p.Leu456Ter) c.1388T>A (p.Leu463Ter) n.702T>A c.1397T>A (p.Leu466Ter) | |
5 | g.138947137del | CA2588340084 | SIL1 | c.1367del (p.Leu456CysfsTer2) c.1388del (p.Leu463CysfsTer2) n.702del c.1397del (p.Leu466CysfsTer2) | |
5 | g.138947137A>C | CA361136350 | SIL1 | c.1366T>G (p.Leu456Val) c.1387T>G (p.Leu463Val) n.701T>G c.1396T>G (p.Leu466Val) | |
5 | g.138947137A>G | CA446793182 | SIL1 | c.1366T>C (p.Leu456=) c.1387T>C (p.Leu463=) n.701T>C c.1396T>C (p.Leu466=) | |
5 | g.138947137A>T | CA361136351 | SIL1 | c.1366T>A (p.Leu456Met) c.1387T>A (p.Leu463Met) n.701T>A c.1396T>A (p.Leu466Met) | |
5 | g.138947138G>A | CA446793183 | SIL1 | c.1365C>T (p.Ser455=) c.1386C>T (p.Ser462=) n.700C>T c.1395C>T (p.Ser465=) | |
5 | g.138947138G>C | CA361136352 | SIL1 | c.1365C>G (p.Ser455Arg) c.1386C>G (p.Ser462Arg) n.700C>G c.1395C>G (p.Ser465Arg) | |
5 | g.138947138G>T | CA361136353 | SIL1 | c.1365C>A (p.Ser455Arg) c.1386C>A (p.Ser462Arg) n.700C>A c.1395C>A (p.Ser465Arg) | |
5 | g.138947139C>A | CA361136354 | SIL1 | c.1364G>T (p.Ser455Ile) c.1385G>T (p.Ser462Ile) n.699G>T c.1394G>T (p.Ser465Ile) | |
5 | g.138947139C>G | CA361136355 | SIL1 | c.1364G>C (p.Ser455Thr) c.1385G>C (p.Ser462Thr) n.699G>C c.1394G>C (p.Ser465Thr) | gnomAD v4 |
5 | g.138947139C>T | CA361136356 | SIL1 | c.1364G>A (p.Ser455Asn) c.1385G>A (p.Ser462Asn) n.699G>A c.1394G>A (p.Ser465Asn) | ClinVar |
5 | g.138947140T>A | CA361136359 | SIL1 | c.1363A>T (p.Ser455Cys) c.1384A>T (p.Ser462Cys) n.698A>T c.1393A>T (p.Ser465Cys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947140T>C | CA361136357 | SIL1 | c.1363A>G (p.Ser455Gly) c.1384A>G (p.Ser462Gly) n.698A>G c.1393A>G (p.Ser465Gly) | gnomAD v4 |
5 | g.138947140T>G | CA361136358 | SIL1 | c.1363A>C (p.Ser455Arg) c.1384A>C (p.Ser462Arg) n.698A>C c.1393A>C (p.Ser465Arg) | |
5 | g.138947140T= | CA1586100192 | SIL1 | c.1363A= (p.Ser455=) c.1384A= (p.Ser462=) n.698A= c.1393A= (p.Ser465=) | |
5 | g.138947141G>A | CA446793187 | SIL1 | c.1362C>T (p.Asn454=) c.1383C>T (p.Asn461=) n.697C>T c.1392C>T (p.Asn464=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947141G>C | CA361136360 | SIL1 | c.1362C>G (p.Asn454Lys) c.1383C>G (p.Asn461Lys) n.697C>G c.1392C>G (p.Asn464Lys) | gnomAD v4 |
5 | g.138947141G= | CA1586100193 | SIL1 | c.1362C= (p.Asn454=) c.1383C= (p.Asn461=) n.697C= c.1392C= (p.Asn464=) | |
5 | g.138947141G>T | CA361136361 | SIL1 | c.1362C>A (p.Asn454Lys) c.1383C>A (p.Asn461Lys) n.697C>A c.1392C>A (p.Asn464Lys) | |
5 | g.138947142T>A | CA361136362 | SIL1 | c.1361A>T (p.Asn454Ile) c.1382A>T (p.Asn461Ile) n.696A>T c.1391A>T (p.Asn464Ile) | |
5 | g.138947142T>C | CA361136363 | SIL1 | c.1361A>G (p.Asn454Ser) c.1382A>G (p.Asn461Ser) n.696A>G c.1391A>G (p.Asn464Ser) | dbSNP gnomAD v4 |
5 | g.138947142T>G | CA361136364 | SIL1 | c.1361A>C (p.Asn454Thr) c.1382A>C (p.Asn461Thr) n.696A>C c.1391A>C (p.Asn464Thr) | |
5 | g.138947142T= | CA1586100194 | SIL1 | c.1361A= (p.Asn454=) c.1382A= (p.Asn461=) n.696A= c.1391A= (p.Asn464=) | |
5 | g.138947143T>A | CA361136365 | SIL1 | c.1360A>T (p.Asn454Tyr) c.1381A>T (p.Asn461Tyr) n.695A>T c.1390A>T (p.Asn464Tyr) | |
5 | g.138947143T>C | CA361136366 | SIL1 | c.1360A>G (p.Asn454Asp) c.1381A>G (p.Asn461Asp) n.695A>G c.1390A>G (p.Asn464Asp) | gnomAD v4 |
5 | g.138947143T>G | CA361136367 | SIL1 | c.1360A>C (p.Asn454His) c.1381A>C (p.Asn461His) n.695A>C c.1390A>C (p.Asn464His) | |
5 | g.138947144G>A | CA446793190 | SIL1 | c.1359C>T (p.Val453=) c.1380C>T (p.Val460=) n.694C>T c.1389C>T (p.Val463=) | dbSNP |
5 | g.138947144G>C | CA446793191 | SIL1 | c.1359C>G (p.Val453=) c.1380C>G (p.Val460=) n.694C>G c.1389C>G (p.Val463=) | |
5 | g.138947144G>T | CA446793192 | SIL1 | c.1359C>A (p.Val453=) c.1380C>A (p.Val460=) n.694C>A c.1389C>A (p.Val463=) | |
5 | g.138947145A= | CA1586100195 | SIL1 | c.1358T= (p.Val453=) c.1379T= (p.Val460=) n.693T= c.1388T= (p.Val463=) | |
5 | g.138947145A>C | CA361136368 | SIL1 | c.1358T>G (p.Val453Gly) c.1379T>G (p.Val460Gly) n.693T>G c.1388T>G (p.Val463Gly) | |
5 | g.138947145A>G | CA3432320 | SIL1 | c.1358T>C (p.Val453Ala) c.1379T>C (p.Val460Ala) n.693T>C c.1388T>C (p.Val463Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947145A>T | CA361136369 | SIL1 | c.1358T>A (p.Val453Asp) c.1379T>A (p.Val460Asp) n.693T>A c.1388T>A (p.Val463Asp) | |
5 | g.138947146C>A | CA361136371 | SIL1 | c.1357G>T (p.Val453Phe) c.1378G>T (p.Val460Phe) n.692G>T c.1387G>T (p.Val463Phe) | |
5 | g.138947146C= | CA1586100196 | SIL1 | c.1357G= (p.Val453=) c.1378G= (p.Val460=) n.692G= c.1387G= (p.Val463=) | |
5 | g.138947146C>G | CA361136372 | SIL1 | c.1357G>C (p.Val453Leu) c.1378G>C (p.Val460Leu) n.692G>C c.1387G>C (p.Val463Leu) | |
5 | g.138947146C>T | CA361136370 | SIL1 | c.1357G>A (p.Val453Ile) c.1378G>A (p.Val460Ile) n.692G>A c.1387G>A (p.Val463Ile) | |
5 | g.138947147A= | CA1586100197 | SIL1 | c.1356T= (p.Ser452=) c.1377T= (p.Ser459=) n.691T= c.1386T= (p.Ser462=) | |
5 | g.138947147A>C | CA446793195 | SIL1 | c.1356T>G (p.Ser452=) c.1377T>G (p.Ser459=) n.691T>G c.1386T>G (p.Ser462=) | |
5 | g.138947147A>G | CA3432322 | SIL1 | c.1356T>C (p.Ser452=) c.1377T>C (p.Ser459=) n.691T>C c.1386T>C (p.Ser462=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.138947147A>T | CA446793194 | SIL1 | c.1356T>A (p.Ser452=) c.1377T>A (p.Ser459=) n.691T>A c.1386T>A (p.Ser462=) | |
5 | g.138947147dup | CA3432321 | SIL1 | c.1356dup (p.Val453CysfsTer22) c.1377dup (p.Val460CysfsTer22) n.691dup c.1386dup (p.Val463CysfsTer22) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.138947148G>A | CA361136373 | SIL1 | c.1355C>T (p.Ser452Phe) c.1376C>T (p.Ser459Phe) n.690C>T c.1385C>T (p.Ser462Phe) | gnomAD v4 |
5 | g.138947148G>C | CA361136374 | SIL1 | c.1355C>G (p.Ser452Cys) c.1376C>G (p.Ser459Cys) n.690C>G c.1385C>G (p.Ser462Cys) | |
5 | g.138947148G>T | CA361136375 | SIL1 | c.1355C>A (p.Ser452Tyr) c.1376C>A (p.Ser459Tyr) n.690C>A c.1385C>A (p.Ser462Tyr) |