12 | g.52488271T>C | CA2618928146 | KRT6A | c.1424+57A>G (n.1424+57A>G)
| gnomAD v4 |
12 | g.52488271T>G | CA2618928147 | KRT6A | c.1424+57A>C (n.1424+57A>C)
| gnomAD v4 |
12 | g.52488272G>A | CA2618928148 | KRT6A | c.1424+56C>T (n.1424+56C>T)
| gnomAD v4 |
12 | g.52488272G>C | CA947701871 | KRT6A | c.1424+56C>G (n.1424+56C>G)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52488272G= | CA2036520262 | KRT6A | c.1424+56C= (n.1424+56C=)
| |
12 | g.52488272G>T | CA2618928149 | KRT6A | c.1424+56C>A (n.1424+56C>A)
| gnomAD v4 |
12 | g.52488273C>A | CA2618928151 | KRT6A | c.1424+55G>T (n.1424+55G>T)
| gnomAD v4 |
12 | g.52488273C>T | CA2618928150 | KRT6A | c.1424+55G>A (n.1424+55G>A)
| gnomAD v4 |
12 | g.52488273_52488274insT | CA2618928152 | KRT6A | c.1424+54_1424+55insA (n.1424+54_1424+55insA)
| gnomAD v4 |
12 | g.52488274_52488278delinsCAGGA | CA2036520263 | KRT6A | c.1424+50_1424+54delinsTCCTG (n.1424+50_1424+54delinsTCCTG)
| |
12 | g.52488275A= | CA2036520266 | KRT6A | c.1424+53T= (n.1424+53T=)
| |
12 | g.52488275A>G | CA605240665 | KRT6A | c.1424+53T>C (n.1424+53T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488275_52488276delinsAG | CA2036520265 | KRT6A | c.1424+52_1424+53delinsCT (n.1424+52_1424+53delinsCT)
| |
12 | g.52488276_52488279del | CA2036520264 | KRT6A | c.1424+50_1424+53del (n.1424+50_1424+53del)
| dbSNP gnomAD v4 |
12 | g.52488276G>A | CA689834851 | KRT6A | c.1424+52C>T (n.1424+52C>T)
| dbSNP gnomAD v4 |
12 | g.52488276G= | CA2036520267 | KRT6A | c.1424+52C= (n.1424+52C=)
| |
12 | g.52488277del | CA605240666 | KRT6A | c.1424+52del (n.1424+52del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488277G>A | CA6581849 | KRT6A | c.1424+51C>T (n.1424+51C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52488277G>C | CA2618928155 | KRT6A | c.1424+51C>G (n.1424+51C>G)
| gnomAD v4 |
12 | g.52488277G= | CA2036520268 | KRT6A | c.1424+51C= (n.1424+51C=)
| |
12 | g.52488277_52488282del | CA2618928153 | KRT6A | c.1424+46_1424+51del (n.1424+46_1424+51del)
| gnomAD v4 |
12 | g.52488278A= | CA2036520269 | KRT6A | c.1424+50T= (n.1424+50T=)
| |
12 | g.52488278A>C | CA2528752063 | KRT6A | c.1424+50T>G (n.1424+50T>G)
| gnomAD v4 |
12 | g.52488278A>T | CA2036520270 | KRT6A | c.1424+50T>A (n.1424+50T>A)
| dbSNP |
12 | g.52488279A>G | CA2618928156 | KRT6A | c.1424+49T>C (n.1424+49T>C)
| gnomAD v4 |
12 | g.52488280C>A | CA2726136045 | KRT6A | c.1424+48G>T (n.1424+48G>T)
| dbSNP |
12 | g.52488281C>A | CA2575165196 | KRT6A | c.1424+47G>T (n.1424+47G>T)
| |
12 | g.52488281C= | CA2036520271 | KRT6A | c.1424+47G= (n.1424+47G=)
| |
12 | g.52488281C>G | CA605240667 | KRT6A | c.1424+47G>C (n.1424+47G>C)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.52488281C>T | CA2618928157 | KRT6A | c.1424+47G>A (n.1424+47G>A)
| gnomAD v4 |
12 | g.52488282T>A | CA2618928158 | KRT6A | c.1424+46A>T (n.1424+46A>T)
| gnomAD v4 |
12 | g.52488282T>C | CA2618928159 | KRT6A | c.1424+46A>G (n.1424+46A>G)
| gnomAD v4 |
12 | g.52488283T>A | CA2618928161 | KRT6A | c.1424+45A>T (n.1424+45A>T)
| gnomAD v4 |
12 | g.52488283T>C | CA6581850 | KRT6A | c.1424+45A>G (n.1424+45A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488283T>G | CA2618928160 | KRT6A | c.1424+45A>C (n.1424+45A>C)
| gnomAD v4 |
12 | g.52488283T= | CA2036520272 | KRT6A | c.1424+45A= (n.1424+45A=)
| |
12 | g.52488285A= | CA2036520273 | KRT6A | c.1424+43T= (n.1424+43T=)
| |
12 | g.52488285A>C | CA2036520274 | KRT6A | c.1424+43T>G (n.1424+43T>G)
| dbSNP |
12 | g.52488285_52488292del | CA2618928162 | KRT6A | c.1424+36_1424+43del (n.1424+36_1424+43del)
| gnomAD v4 |
12 | g.52488286A= | CA2036520275 | KRT6A | c.1424+42T= (n.1424+42T=)
| |
12 | g.52488286A>G | CA6581851 | KRT6A | c.1424+42T>C (n.1424+42T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488287G>A | CA2618928163 | KRT6A | c.1424+41C>T (n.1424+41C>T)
| gnomAD v4 |
12 | g.52488288A= | CA2036520276 | KRT6A | c.1424+40T= (n.1424+40T=)
| |
12 | g.52488288A>G | CA6581852 | KRT6A | c.1424+40T>C (n.1424+40T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488289T>A | CA605240668 | KRT6A | c.1424+39A>T (n.1424+39A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488289T>C | CA2036520278 | KRT6A | c.1424+39A>G (n.1424+39A>G)
| dbSNP gnomAD v4 |
12 | g.52488289T= | CA2036520277 | KRT6A | c.1424+39A= (n.1424+39A=)
| |
12 | g.52488290G>A | CA2618928164 | KRT6A | c.1424+38C>T (n.1424+38C>T)
| gnomAD v4 |
12 | g.52488291G>T | CA2618928165 | KRT6A | c.1424+37C>A (n.1424+37C>A)
| gnomAD v4 |
12 | g.52488293C>A | CA605240669 | KRT6A | c.1424+35G>T (n.1424+35G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488293C= | CA2036520279 | KRT6A | c.1424+35G= (n.1424+35G=)
| |
12 | g.52488293C>T | CA2036520280 | KRT6A | c.1424+35G>A (n.1424+35G>A)
| dbSNP gnomAD v4 |
12 | g.52488296A>G | CA2618928166 | KRT6A | c.1424+32T>C (n.1424+32T>C)
| gnomAD v4 |
12 | g.52488297_52488298delinsGC | CA2036520281 | KRT6A | c.1424+30_1424+31delinsGC (n.1424+30_1424+31delinsGC)
| |
12 | g.52488298del | CA2036520283 | KRT6A | c.1424+30del (n.1424+30del)
| dbSNP |
12 | g.52488298C= | CA2036520282 | KRT6A | c.1424+30G= (n.1424+30G=)
| |
12 | g.52488298C>T | CA6581853 | KRT6A | c.1424+30G>A (n.1424+30G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488300G>A | CA2618928167 | KRT6A | c.1424+28C>T (n.1424+28C>T)
| gnomAD v4 |
12 | g.52488304A= | CA2036520284 | KRT6A | c.1424+24T= (n.1424+24T=)
| |
12 | g.52488304A>G | CA237229026 | KRT6A | c.1424+24T>C (n.1424+24T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488306G= | CA2036520285 | KRT6A | c.1424+22C= (n.1424+22C=)
| |
12 | g.52488306G>T | CA6581854 | KRT6A | c.1424+22C>A (n.1424+22C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52488307G>A | CA689834864 | KRT6A | c.1424+21C>T (n.1424+21C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52488307G= | CA2036520286 | KRT6A | c.1424+21C= (n.1424+21C=)
| |
12 | g.52488309G>A | CA605240670 | KRT6A | c.1424+19C>T (n.1424+19C>T)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.52488309G= | CA2036520287 | KRT6A | c.1424+19C= (n.1424+19C=)
| |
12 | g.52488309G>T | CA2036520288 | KRT6A | c.1424+19C>A (n.1424+19C>A)
| dbSNP gnomAD v4 |
12 | g.52488310T>A | CA654743420 | KRT6A | c.1424+18A>T (n.1424+18A>T)
| gnomAD v4 COSMIC |
12 | g.52488310T>C | CA605240671 | KRT6A | c.1424+18A>G (n.1424+18A>G)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.52488310T>G | CA6581855 | KRT6A | c.1424+18A>C (n.1424+18A>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488310T= | CA2036520289 | KRT6A | c.1424+18A= (n.1424+18A=)
| |
12 | g.52488311T>A | CA2618928168 | KRT6A | c.1424+17A>T (n.1424+17A>T)
| gnomAD v4 |
12 | g.52488312C= | CA2036520290 | KRT6A | c.1424+16G= (n.1424+16G=)
| |
12 | g.52488312C>T | CA6581856 | KRT6A | c.1424+16G>A (n.1424+16G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488313G>A | CA6581857 | KRT6A | c.1424+15C>T (n.1424+15C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488313G= | CA2036520291 | KRT6A | c.1424+15C= (n.1424+15C=)
| |
12 | g.52488313G>T | CA689834870 | KRT6A | c.1424+15C>A (n.1424+15C>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52488314T>A | CA2618928170 | KRT6A | c.1424+14A>T (n.1424+14A>T)
| gnomAD v4 |
12 | g.52488314T>C | CA6581858 | KRT6A | c.1424+14A>G (n.1424+14A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52488314T= | CA2036520292 | KRT6A | c.1424+14A= (n.1424+14A=)
| |
12 | g.52488316T>C | CA605240672 | KRT6A | c.1424+12A>G (n.1424+12A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488316T= | CA2036520293 | KRT6A | c.1424+12A= (n.1424+12A=)
| |
12 | g.52488317C= | CA2036520294 | KRT6A | c.1424+11G= (n.1424+11G=)
| |
12 | g.52488317C>T | CA689834877 | KRT6A | c.1424+11G>A (n.1424+11G>A)
| dbSNP gnomAD v4 |
12 | g.52488319G>C | CA6581859 | KRT6A | c.1424+9C>G (n.1424+9C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52488319G= | CA2036520295 | KRT6A | c.1424+9C= (n.1424+9C=)
| |
12 | g.52488322A>G | CA2618928171 | KRT6A | c.1424+6T>C (n.1424+6T>C)
| gnomAD v4 |
12 | g.52488323C>A | CA2618928172 | KRT6A | c.1424+5G>T (n.1424+5G>T)
| gnomAD v4 |
12 | g.52488325C>A | CA2036520297 | KRT6A | c.1424+3G>T (n.1424+3G>T)
| dbSNP gnomAD v4 |
12 | g.52488325C= | CA2036520296 | KRT6A | c.1424+3G= (n.1424+3G=)
| |
12 | g.52488325C>T | CA6581860 | KRT6A | c.1424+3G>A (n.1424+3G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488326A>C | CA384953240 | KRT6A | c.1424+2T>G (n.1424+2T>G)
| |
12 | g.52488326A>G | CA384953241 | KRT6A | c.1424+2T>C (n.1424+2T>C)
| |
12 | g.52488326A>T | CA384953242 | KRT6A | c.1424+2T>A (n.1424+2T>A)
| |
12 | g.52488327C>A | CA384953243 | KRT6A | c.1424+1G>T (n.1424+1G>T)
| dbSNP |
12 | g.52488327C= | CA2036520298 | KRT6A | c.1424+1G= (n.1424+1G=)
| |
12 | g.52488327C>G | CA384953244 | KRT6A | c.1424+1G>C (n.1424+1G>C)
| |
12 | g.52488327C>T | CA384953245 | KRT6A | c.1424+1G>A (n.1424+1G>A)
| gnomAD v3 gnomAD v4 |
12 | g.52488328C>A | CA384953246 | KRT6A | c.1424G>T (p.Arg475Met)
| dbSNP COSMIC |
12 | g.52488328C= | CA2036520299 | KRT6A | c.1424G= (p.Arg475=)
| |
12 | g.52488328C>G | CA384953247 | KRT6A | c.1424G>C (p.Arg475Thr)
| |
12 | g.52488328C>T | CA384953248 | KRT6A | c.1424G>A (p.Arg475Lys)
| |
12 | g.52488329T>A | CA384953249 | KRT6A | c.1423A>T (p.Arg475Trp)
| |
12 | g.52488329T>C | CA384953250 | KRT6A | c.1423A>G (p.Arg475Gly)
| |
12 | g.52488329T>G | CA479853031 | KRT6A | c.1423A>C (p.Arg475=)
| |
12 | g.52488330G>A | CA479853032 | KRT6A | c.1422C>T (p.Cys474=)
| |
12 | g.52488330G>C | CA384953251 | KRT6A | c.1422C>G (p.Cys474Trp)
| |
12 | g.52488330G>T | CA384953252 | KRT6A | c.1422C>A (p.Cys474Ter)
| gnomAD v4 |
12 | g.52488331C>A | CA384953253 | KRT6A | c.1421G>T (p.Cys474Phe)
| |
12 | g.52488331C>G | CA384953254 | KRT6A | c.1421G>C (p.Cys474Ser)
| |
12 | g.52488331C>T | CA384953255 | KRT6A | c.1421G>A (p.Cys474Tyr)
| |
12 | g.52488332A= | CA2036520300 | KRT6A | c.1420T= (p.Cys474=)
| |
12 | g.52488332A>C | CA384953256 | KRT6A | c.1420T>G (p.Cys474Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488332A>G | CA384953257 | KRT6A | c.1420T>C (p.Cys474Arg)
| gnomAD v4 |
12 | g.52488332A>T | CA384953258 | KRT6A | c.1420T>A (p.Cys474Ser)
| |
12 | g.52488333C>A | CA384953259 | KRT6A | c.1419G>T (p.Glu473Asp)
| |
12 | g.52488333C>G | CA384953261 | KRT6A | c.1419G>C (p.Glu473Asp)
| |
12 | g.52488333C>T | CA479853033 | KRT6A | c.1419G>A (p.Glu473=)
| |
12 | g.52488334T>A | CA384953264 | KRT6A | c.1418A>T (p.Glu473Val)
| |
12 | g.52488334T>C | CA384953265 | KRT6A | c.1418A>G (p.Glu473Gly)
| |
12 | g.52488334T>G | CA384953268 | KRT6A | c.1418A>C (p.Glu473Ala)
| |
12 | g.52488334dup | CA2580086457 | KRT6A | c.1418dup (p.Cys474ValfsTer?)
| ClinVar |
12 | g.52488335C>A | CA384953274 | KRT6A | c.1417G>T (p.Glu473Ter)
| |
12 | g.52488335C>G | CA384953270 | KRT6A | c.1417G>C (p.Glu473Gln)
| |
12 | g.52488335C>T | CA384953272 | KRT6A | c.1417G>A (p.Glu473Lys)
| COSMIC |
12 | g.52488336dup | CA2695216973 | KRT6A | c.1417dup (p.Glu473GlyfsTer?)
| |
12 | g.52488339_52488344del | CA2695216972 | KRT6A | c.1412_1417del (p.Gly471_Glu472del)
| |
12 | g.52488336C>A | CA384953276 | KRT6A | c.1416G>T (p.Glu472Asp)
| |
12 | g.52488336C= | CA2036520301 | KRT6A | c.1416G= (p.Glu472=)
| |
12 | g.52488336C>G | CA217340 | KRT6A | c.1416G>C (p.Glu472Asp)
| ClinVar dbSNP |
12 | g.52488336C>T | CA479853034 | KRT6A | c.1416G>A (p.Glu472=)
| |
12 | g.52488337T>A | CA384953279 | KRT6A | c.1415A>T (p.Glu472Val)
| |
12 | g.52488337T>C | CA384953281 | KRT6A | c.1415A>G (p.Glu472Gly)
| |
12 | g.52488337T>G | CA384953283 | KRT6A | c.1415A>C (p.Glu472Ala)
| |
12 | g.52488338C>A | CA384953285 | KRT6A | c.1414G>T (p.Glu472Ter)
| |
12 | g.52488338C= | CA2036520302 | KRT6A | c.1414G= (p.Glu472=)
| |
12 | g.52488338C>G | CA384953286 | KRT6A | c.1414G>C (p.Glu472Gln)
| |
12 | g.52488338C>T | CA124169 | KRT6A | c.1414G>A (p.Glu472Lys)
| ClinVar dbSNP |
12 | g.52488339A= | CA2036520303 | KRT6A | c.1413T= (p.Gly471=)
| |
12 | g.52488339A>C | CA479853035 | KRT6A | c.1413T>G (p.Gly471=)
| dbSNP |
12 | g.52488339A>G | CA6581861 | KRT6A | c.1413T>C (p.Gly471=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.52488339A>T | CA479853036 | KRT6A | c.1413T>A (p.Gly471=)
| |
12 | g.52488340C>A | CA384953291 | KRT6A | c.1412G>T (p.Gly471Val)
| |
12 | g.52488340C= | CA2036520304 | KRT6A | c.1412G= (p.Gly471=)
| |
12 | g.52488340C>G | CA384953292 | KRT6A | c.1412G>C (p.Gly471Ala)
| |
12 | g.52488340C>T | CA384953294 | KRT6A | c.1412G>A (p.Gly471Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488341C>A | CA6581862 | KRT6A | c.1411G>T (p.Gly471Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488341C= | CA2036520305 | KRT6A | c.1411G= (p.Gly471=)
| |
12 | g.52488341C>G | CA384953298 | KRT6A | c.1411G>C (p.Gly471Arg)
| |
12 | g.52488341C>T | CA384953297 | KRT6A | c.1411G>A (p.Gly471Ser)
| gnomAD v4 |
12 | g.52488342C>A | CA384953301 | KRT6A | c.1410G>T (p.Glu470Asp)
| |
12 | g.52488342C= | CA2036520306 | KRT6A | c.1410G= (p.Glu470=)
| |
12 | g.52488342C>G | CA384953303 | KRT6A | c.1410G>C (p.Glu470Asp)
| |
12 | g.52488342C>T | CA6581863 | KRT6A | c.1410G>A (p.Glu470=)
| dbSNP ExAC |
12 | g.52488342_52488346delinsTACC | CA2695216974 | KRT6A | c.1406_1410delinsGGTA (p.Leu469ArgfsTer2)
| |
12 | g.52488343T>A | CA384953304 | KRT6A | c.1409A>T (p.Glu470Val)
| |
12 | g.52488343T>C | CA384953306 | KRT6A | c.1409A>G (p.Glu470Gly)
| |
12 | g.52488343T>G | CA384953305 | KRT6A | c.1409A>C (p.Glu470Ala)
| |
12 | g.52488344C>A | CA384953308 | KRT6A | c.1408G>T (p.Glu470Ter)
| |
12 | g.52488344C>G | CA384953310 | KRT6A | c.1408G>C (p.Glu470Gln)
| |
12 | g.52488344C>T | CA384953312 | KRT6A | c.1408G>A (p.Glu470Lys)
| gnomAD v4 COSMIC |
12 | g.52488345C>A | CA479853037 | KRT6A | c.1407G>T (p.Leu469=)
| |
12 | g.52488345C= | CA2036520307 | KRT6A | c.1407G= (p.Leu469=)
| |
12 | g.52488345C>G | CA479853038 | KRT6A | c.1407G>C (p.Leu469=)
| |
12 | g.52488345C>T | CA479853039 | KRT6A | c.1407G>A (p.Leu469=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52488346A= | CA2036520308 | KRT6A | c.1406T= (p.Leu469=)
| |
12 | g.52488346A>C | CA124170 | KRT6A | c.1406T>G (p.Leu469Arg)
| ClinVar dbSNP |
12 | g.52488346A>G | CA170745 | KRT6A | c.1406T>C (p.Leu469Pro)
| ClinVar dbSNP |
12 | g.52488346A>T | CA384953316 | KRT6A | c.1406T>A (p.Leu469Gln)
| |
12 | g.52488347G>A | CA6581864 | KRT6A | c.1405C>T (p.Leu469=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52488347G>C | CA384953317 | KRT6A | c.1405C>G (p.Leu469Val)
| |
12 | g.52488347G= | CA2036520309 | KRT6A | c.1405C= (p.Leu469=)
| |
12 | g.52488347G>T | CA384953319 | KRT6A | c.1405C>A (p.Leu469Met)
| |
12 | g.52488348C>A | CA479853040 | KRT6A | c.1404G>T (p.Leu468=)
| |
12 | g.52488348C>G | CA479853041 | KRT6A | c.1404G>C (p.Leu468=)
| |
12 | g.52488348C>T | CA479853042 | KRT6A | c.1404G>A (p.Leu468=)
| |
12 | g.52488349A= | CA2036520310 | KRT6A | c.1403T= (p.Leu468=)
| |
12 | g.52488349A>C | CA384953321 | KRT6A | c.1403T>G (p.Leu468Arg)
| |
12 | g.52488349A>G | CA217339 | KRT6A | c.1403T>C (p.Leu468Pro)
| ClinVar dbSNP |
12 | g.52488349A>T | CA217338 | KRT6A | c.1403T>A (p.Leu468Gln)
| ClinVar dbSNP |
12 | g.52488350G>A | CA479853043 | KRT6A | c.1402C>T (p.Leu468=)
| gnomAD v4 |
12 | g.52488350G>C | CA384953325 | KRT6A | c.1402C>G (p.Leu468Val)
| |
12 | g.52488350G>T | CA384953327 | KRT6A | c.1402C>A (p.Leu468Met)
| |
12 | g.52488350_52488351insGAAGAGCTATAAGCACTAAAGTGCGTCTGCTAGCTCT | CA2795999528 | KRT6A | c.1401_1402insAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTC (p.Leu468ArgfsTer17)
| |
12 | g.52488350_52488351insGAAGAGCTATAAGCACTAAAGTGCGTCTGCTAGCTCTCGGTCCCACAGTCCTCAGGCCC | CA2795999529 | KRT6A | c.1401_1402insGGGCCTGAGGACTGTGGGACCGAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTC (p.Leu468GlyfsTer10)
| |
12 | g.52488351C>A | CA384953329 | KRT6A | c.1401G>T (p.Lys467Asn)
| |
12 | g.52488351C>G | CA384953331 | KRT6A | c.1401G>C (p.Lys467Asn)
| |
12 | g.52488351C>T | CA479853044 | KRT6A | c.1401G>A (p.Lys467=)
| |
12 | g.52488352T>A | CA384953333 | KRT6A | c.1400A>T (p.Lys467Met)
| |
12 | g.52488352T>C | CA384953334 | KRT6A | c.1400A>G (p.Lys467Arg)
| |
12 | g.52488352T>G | CA384953336 | KRT6A | c.1400A>C (p.Lys467Thr)
| |
12 | g.52488353T>A | CA384953338 | KRT6A | c.1399A>T (p.Lys467Ter)
| |
12 | g.52488353T>C | CA384953340 | KRT6A | c.1399A>G (p.Lys467Glu)
| |
12 | g.52488353T>G | CA384953341 | KRT6A | c.1399A>C (p.Lys467Gln)
| |
12 | g.52488354G>A | CA6581865 | KRT6A | c.1398C>T (p.Arg466=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52488354G>C | CA479853046 | KRT6A | c.1398C>G (p.Arg466=)
| |
12 | g.52488354G= | CA2036520311 | KRT6A | c.1398C= (p.Arg466=)
| |
12 | g.52488354G>T | CA479853045 | KRT6A | c.1398C>A (p.Arg466=)
| |
12 | g.52488355C>A | CA384953344 | KRT6A | c.1397G>T (p.Arg466Leu)
| dbSNP gnomAD v4 |
12 | g.52488355C= | CA2036520312 | KRT6A | c.1397G= (p.Arg466=)
| |
12 | g.52488355C>G | CA384953345 | KRT6A | c.1397G>C (p.Arg466Pro)
| |
12 | g.52488355C>T | CA6581866 | KRT6A | c.1397G>A (p.Arg466His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488356G>A | CA6581867 | KRT6A | c.1396C>T (p.Arg466Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488356G>C | CA384953352 | KRT6A | c.1396C>G (p.Arg466Gly)
| |
12 | g.52488356G= | CA2036520313 | KRT6A | c.1396C= (p.Arg466=)
| |
12 | g.52488356G>T | CA384953350 | KRT6A | c.1396C>A (p.Arg466Ser)
| gnomAD v4 |
12 | g.52488356_52488358dup | CA2695216975 | KRT6A | c.1394_1396dup (p.Tyr465_Arg466insHis)
| |
12 | g.52488359_52488362dup | CA2618928177 | KRT6A | c.1393_1396dup (p.Arg466LeufsTer8)
| gnomAD v4 |
12 | g.52488357G>A | CA479853047 | KRT6A | c.1395C>T (p.Tyr465=)
| dbSNP |
12 | g.52488357G>C | CA384953354 | KRT6A | c.1395C>G (p.Tyr465Ter)
| |
12 | g.52488357G= | CA2036520314 | KRT6A | c.1395C= (p.Tyr465=)
| |
12 | g.52488357G>T | CA384953356 | KRT6A | c.1395C>A (p.Tyr465Ter)
| |
12 | g.52488358T>A | CA384953358 | KRT6A | c.1394A>T (p.Tyr465Phe)
| |
12 | g.52488358T>C | CA217336 | KRT6A | c.1394A>G (p.Tyr465Cys)
| ClinVar dbSNP |
12 | g.52488358T>G | CA384953360 | KRT6A | c.1394A>C (p.Tyr465Ser)
| |
12 | g.52488358T= | CA2036520315 | KRT6A | c.1394A= (p.Tyr465=)
| |
12 | g.52488359A= | CA2036520316 | KRT6A | c.1393T= (p.Tyr465=)
| |
12 | g.52488359A>C | CA384953362 | KRT6A | c.1393T>G (p.Tyr465Asp)
| |
12 | g.52488359A>G | CA217335 | KRT6A | c.1393T>C (p.Tyr465His)
| ClinVar dbSNP |
12 | g.52488359A>T | CA384953364 | KRT6A | c.1393T>A (p.Tyr465Asn)
| |
12 | g.52488360G>A | CA479853048 | KRT6A | c.1392C>T (p.Thr464=)
| |
12 | g.52488360G>C | CA479853050 | KRT6A | c.1392C>G (p.Thr464=)
| |
12 | g.52488360G>T | CA479853049 | KRT6A | c.1392C>A (p.Thr464=)
| |
12 | g.52488361G>A | CA384953366 | KRT6A | c.1391C>T (p.Thr464Ile)
| |
12 | g.52488361G>C | CA384953368 | KRT6A | c.1391C>G (p.Thr464Ser)
| |
12 | g.52488361G>T | CA384953369 | KRT6A | c.1391C>A (p.Thr464Asn)
| |
12 | g.52488362T>A | CA384953375 | KRT6A | c.1390A>T (p.Thr464Ser)
| |
12 | g.52488362T>C | CA384953373 | KRT6A | c.1390A>G (p.Thr464Ala)
| |
12 | g.52488362T>G | CA217334 | KRT6A | c.1390A>C (p.Thr464Pro)
| ClinVar dbSNP |
12 | g.52488362T= | CA2036520317 | KRT6A | c.1390A= (p.Thr464=)
| |
12 | g.52488363G>A | CA479853051 | KRT6A | c.1389C>T (p.Ala463=)
| |
12 | g.52488363G>C | CA479853052 | KRT6A | c.1389C>G (p.Ala463=)
| |
12 | g.52488363G>T | CA479853053 | KRT6A | c.1389C>A (p.Ala463=)
| |
12 | g.52488364G>A | CA384953378 | KRT6A | c.1388C>T (p.Ala463Val)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52488364G>C | CA384953380 | KRT6A | c.1388C>G (p.Ala463Gly)
| |
12 | g.52488364G= | CA2036520318 | KRT6A | c.1388C= (p.Ala463=)
| |
12 | g.52488364G>T | CA384953382 | KRT6A | c.1388C>A (p.Ala463Asp)
| |
12 | g.52488365C>A | CA384953384 | KRT6A | c.1387G>T (p.Ala463Ser)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52488365C= | CA2036520319 | KRT6A | c.1387G= (p.Ala463=)
| |
12 | g.52488365C>G | CA217333 | KRT6A | c.1387G>C (p.Ala463Pro)
| ClinVar dbSNP |
12 | g.52488365C>T | CA384953386 | KRT6A | c.1387G>A (p.Ala463Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.52488366G>A | CA6581868 | KRT6A | c.1386C>T (p.Ile462=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488366G>C | CA384953389 | KRT6A | c.1386C>G (p.Ile462Met)
| |
12 | g.52488366G= | CA2036520320 | KRT6A | c.1386C= (p.Ile462=)
| |
12 | g.52488366G>T | CA6581869 | KRT6A | c.1386C>A (p.Ile462=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52488367A= | CA2036520321 | KRT6A | c.1385T= (p.Ile462=)
| |
12 | g.52488367A>C | CA217332 | KRT6A | c.1385T>G (p.Ile462Ser)
| ClinVar dbSNP |
12 | g.52488367A>G | CA384953392 | KRT6A | c.1385T>C (p.Ile462Thr)
| |
12 | g.52488367A>T | CA217331 | KRT6A | c.1385T>A (p.Ile462Asn)
| ClinVar dbSNP |
12 | g.52488368T>A | CA384953398 | KRT6A | c.1384A>T (p.Ile462Phe)
| |
12 | g.52488368T>C | CA384953396 | KRT6A | c.1384A>G (p.Ile462Val)
| |
12 | g.52488368T>G | CA384953395 | KRT6A | c.1384A>C (p.Ile462Leu)
| |
12 | g.52488369C>A | CA384953399 | KRT6A | c.1383G>T (p.Glu461Asp)
| |
12 | g.52488369C= | CA2036520322 | KRT6A | c.1383G= (p.Glu461=)
| |
12 | g.52488369C>G | CA384953401 | KRT6A | c.1383G>C (p.Glu461Asp)
| |
12 | g.52488369C>T | CA479853054 | KRT6A | c.1383G>A (p.Glu461=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.52488370T>A | CA384953403 | KRT6A | c.1382A>T (p.Glu461Val)
| |
12 | g.52488370T>C | CA384953405 | KRT6A | c.1382A>G (p.Glu461Gly)
| |
12 | g.52488370T>G | CA384953407 | KRT6A | c.1382A>C (p.Glu461Ala)
| |
12 | g.52488371C>A | CA384953408 | KRT6A | c.1381G>T (p.Glu461Ter)
| ClinVar dbSNP |
12 | g.52488371C= | CA2036520323 | KRT6A | c.1381G= (p.Glu461=)
| |
12 | g.52488371C>G | CA217329 | KRT6A | c.1381G>C (p.Glu461Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.52488371C>T | CA217327 | KRT6A | c.1381G>A (p.Glu461Lys)
| ClinVar dbSNP |