6 | g.7579375T>A | CA362683244 | DSP | c.3185T>A (p.Leu1062Gln)
| |
6 | g.7579375T>C | CA362683245 | DSP | c.3185T>C (p.Leu1062Pro)
| |
6 | g.7579375T>G | CA362683246 | DSP | c.3185T>G (p.Leu1062Arg)
| |
6 | g.7579376G>A | CA448714212 | DSP | c.3186G>A (p.Leu1062=)
| |
6 | g.7579376G>C | CA448714214 | DSP | c.3186G>C (p.Leu1062=)
| |
6 | g.7579376G>T | CA448714213 | DSP | c.3186G>T (p.Leu1062=)
| ClinVar |
6 | g.7579377C>A | CA362683247 | DSP | c.3187C>A (p.Gln1063Lys)
| |
6 | g.7579377C>G | CA362683248 | DSP | c.3187C>G (p.Gln1063Glu)
| |
6 | g.7579377C>T | CA362683249 | DSP | c.3187C>T (p.Gln1063Ter)
| |
6 | g.7579378A>C | CA362683250 | DSP | c.3188A>C (p.Gln1063Pro)
| |
6 | g.7579378A>G | CA362683251 | DSP | c.3188A>G (p.Gln1063Arg)
| |
6 | g.7579378A>T | CA362683252 | DSP | c.3188A>T (p.Gln1063Leu)
| |
6 | g.7579379G>A | CA448714215 | DSP | c.3189G>A (p.Gln1063=)
| |
6 | g.7579379G>C | CA362683253 | DSP | c.3189G>C (p.Gln1063His)
| |
6 | g.7579379G>T | CA362683254 | DSP | c.3189G>T (p.Gln1063His)
| |
6 | g.7579379_7579380delinsGA | CA1608613678 | DSP | c.3189_3190delinsGA (p.Gln1063=)
| |
6 | g.7579380A= | CA1608613686 | DSP | c.3190A= (p.Lys1064=)
| |
6 | g.7579380A>C | CA362683257 | DSP | c.3190A>C (p.Lys1064Gln)
| |
6 | g.7579380A>G | CA362683256 | DSP | c.3190A>G (p.Lys1064Glu)
| ClinVar dbSNP |
6 | g.7579380A>T | CA362683255 | DSP | c.3190A>T (p.Lys1064Ter)
| |
6 | g.7579382dup | CA2499218555 | DSP | c.3192dup (p.Tyr1065IlefsTer23)
| ClinVar dbSNP |
6 | g.7579382del | CA133968091 | DSP | c.3192del (p.Lys1064AsnfsTer19)
| dbSNP |
6 | g.7579381A>C | CA362683258 | DSP | c.3191A>C (p.Lys1064Thr)
| |
6 | g.7579381A>G | CA362683259 | DSP | c.3191A>G (p.Lys1064Arg)
| |
6 | g.7579381A>T | CA362683260 | DSP | c.3191A>T (p.Lys1064Ile)
| |
6 | g.7579382A>C | CA362683261 | DSP | c.3192A>C (p.Lys1064Asn)
| |
6 | g.7579382A>G | CA448714218 | DSP | c.3192A>G (p.Lys1064=)
| |
6 | g.7579382A>T | CA362683262 | DSP | c.3192A>T (p.Lys1064Asn)
| |
6 | g.7579383T>A | CA362683265 | DSP | c.3193T>A (p.Tyr1065Asn)
| |
6 | g.7579383T>C | CA362683263 | DSP | c.3193T>C (p.Tyr1065His)
| |
6 | g.7579383T>G | CA362683264 | DSP | c.3193T>G (p.Tyr1065Asp)
| |
6 | g.7579384A= | CA1608613692 | DSP | c.3194A= (p.Tyr1065=)
| |
6 | g.7579384A>C | CA362683266 | DSP | c.3194A>C (p.Tyr1065Ser)
| |
6 | g.7579384A>G | CA362683267 | DSP | c.3194A>G (p.Tyr1065Cys)
| |
6 | g.7579384A>T | CA362683268 | DSP | c.3194A>T (p.Tyr1065Phe)
| ClinVar dbSNP |
6 | g.7579385C>A | CA362683269 | DSP | c.3195C>A (p.Tyr1065Ter)
| |
6 | g.7579385C= | CA1608613703 | DSP | c.3195C= (p.Tyr1065=)
| |
6 | g.7579385C>G | CA10587633 | DSP | c.3195C>G (p.Tyr1065Ter)
| ClinVar dbSNP gnomAD v4 |
6 | g.7579385C>T | CA448714220 | DSP | c.3195C>T (p.Tyr1065=)
| ClinVar gnomAD v4 |
6 | g.7579386C>A | CA362683270 | DSP | c.3196C>A (p.Gln1066Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579386C= | CA1608613710 | DSP | c.3196C= (p.Gln1066=)
| |
6 | g.7579386C>G | CA362683272 | DSP | c.3196C>G (p.Gln1066Glu)
| |
6 | g.7579386C>T | CA362683271 | DSP | c.3196C>T (p.Gln1066Ter)
| |
6 | g.7579387A= | CA1608613715 | DSP | c.3197A= (p.Gln1066=)
| |
6 | g.7579387A>C | CA362683273 | DSP | c.3197A>C (p.Gln1066Pro)
| |
6 | g.7579387A>G | CA362683274 | DSP | c.3197A>G (p.Gln1066Arg)
| dbSNP gnomAD v4 |
6 | g.7579387A>T | CA362683275 | DSP | c.3197A>T (p.Gln1066Leu)
| |
6 | g.7579388G>A | CA448714224 | DSP | c.3198G>A (p.Gln1066=)
| |
6 | g.7579388G>C | CA362683276 | DSP | c.3198G>C (p.Gln1066His)
| |
6 | g.7579388G>T | CA362683277 | DSP | c.3198G>T (p.Gln1066His)
| |
6 | g.7579389G>A | CA362683279 | DSP | c.3199G>A (p.Ala1067Thr)
| |
6 | g.7579389G>C | CA362683278 | DSP | c.3199G>C (p.Ala1067Pro)
| |
6 | g.7579389G= | CA1608613724 | DSP | c.3199G= (p.Ala1067=)
| |
6 | g.7579389G>T | CA005770 | DSP | c.3199G>T (p.Ala1067Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579390C>A | CA362683280 | DSP | c.3200C>A (p.Ala1067Glu)
| |
6 | g.7579390C= | CA1608613738 | DSP | c.3200C= (p.Ala1067=)
| |
6 | g.7579390C>G | CA362683281 | DSP | c.3200C>G (p.Ala1067Gly)
| |
6 | g.7579390C>T | CA362683282 | DSP | c.3200C>T (p.Ala1067Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579390_7579392delinsCAG | CA1608613736 | DSP | c.3200_3202delinsCAG (p.Ala1067=)
| |
6 | g.7579391A>C | CA448714231 | DSP | c.3201A>C (p.Ala1067=)
| |
6 | g.7579391A>G | CA448714229 | DSP | c.3201A>G (p.Ala1067=)
| |
6 | g.7579391A>T | CA448714230 | DSP | c.3201A>T (p.Ala1067=)
| |
6 | g.7579393_7579394del | CA917669408 | DSP | c.3203_3204del (p.Glu1068ValfsTer19)
| ClinVar dbSNP |
6 | g.7579392G>A | CA362683283 | DSP | c.3202G>A (p.Glu1068Lys)
| |
6 | g.7579392G>C | CA362683284 | DSP | c.3202G>C (p.Glu1068Gln)
| ClinVar |
6 | g.7579392G>T | CA362683285 | DSP | c.3202G>T (p.Glu1068Ter)
| gnomAD v4 |
6 | g.7579393A>C | CA362683286 | DSP | c.3203A>C (p.Glu1068Ala)
| |
6 | g.7579393A>G | CA362683288 | DSP | c.3203A>G (p.Glu1068Gly)
| |
6 | g.7579393A>T | CA362683287 | DSP | c.3203A>T (p.Glu1068Val)
| |
6 | g.7579394G>A | CA448714233 | DSP | c.3204G>A (p.Glu1068=)
| |
6 | g.7579394G>C | CA362683289 | DSP | c.3204G>C (p.Glu1068Asp)
| |
6 | g.7579394G>T | CA362683290 | DSP | c.3204G>T (p.Glu1068Asp)
| |
6 | g.7579395T>A | CA362683291 | DSP | c.3205T>A (p.Cys1069Ser)
| |
6 | g.7579395T>C | CA362683292 | DSP | c.3205T>C (p.Cys1069Arg)
| gnomAD v4 |
6 | g.7579395T>G | CA362683293 | DSP | c.3205T>G (p.Cys1069Gly)
| |
6 | g.7579396G>A | CA362683294 | DSP | c.3206G>A (p.Cys1069Tyr)
| |
6 | g.7579396G>C | CA362683295 | DSP | c.3206G>C (p.Cys1069Ser)
| |
6 | g.7579396G>T | CA362683296 | DSP | c.3206G>T (p.Cys1069Phe)
| |
6 | g.7579397T>A | CA362683297 | DSP | c.3207T>A (p.Cys1069Ter)
| |
6 | g.7579397T>C | CA448714234 | DSP | c.3207T>C (p.Cys1069=)
| |
6 | g.7579397T>G | CA362683298 | DSP | c.3207T>G (p.Cys1069Trp)
| |
6 | g.7579398T>A | CA362683301 | DSP | c.3208T>A (p.Ser1070Thr)
| |
6 | g.7579398T>C | CA362683300 | DSP | c.3208T>C (p.Ser1070Pro)
| |
6 | g.7579398T>G | CA362683299 | DSP | c.3208T>G (p.Ser1070Ala)
| |
6 | g.7579399C>A | CA362683302 | DSP | c.3209C>A (p.Ser1070Tyr)
| |
6 | g.7579399C= | CA1608613746 | DSP | c.3209C= (p.Ser1070=)
| |
6 | g.7579399C>G | CA362683304 | DSP | c.3209C>G (p.Ser1070Cys)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579399C>T | CA362683303 | DSP | c.3209C>T (p.Ser1070Phe)
| gnomAD v4 COSMIC |
6 | g.7579400C>A | CA448714235 | DSP | c.3210C>A (p.Ser1070=)
| |
6 | g.7579400C>G | CA448714236 | DSP | c.3210C>G (p.Ser1070=)
| |
6 | g.7579400C>T | CA448714237 | DSP | c.3210C>T (p.Ser1070=)
| |
6 | g.7579401C>A | CA362683305 | DSP | c.3211C>A (p.Gln1071Lys)
| |
6 | g.7579401C>G | CA362683307 | DSP | c.3211C>G (p.Gln1071Glu)
| |
6 | g.7579401C>T | CA362683306 | DSP | c.3211C>T (p.Gln1071Ter)
| ClinVar gnomAD v4 |
6 | g.7579402A>C | CA362683308 | DSP | c.3212A>C (p.Gln1071Pro)
| |
6 | g.7579402A>G | CA362683310 | DSP | c.3212A>G (p.Gln1071Arg)
| |
6 | g.7579402A>T | CA362683309 | DSP | c.3212A>T (p.Gln1071Leu)
| |
6 | g.7579403G>A | CA448714238 | DSP | c.3213G>A (p.Gln1071=)
| |
6 | g.7579403G>C | CA362683311 | DSP | c.3213G>C (p.Gln1071His)
| |
6 | g.7579403G>T | CA362683312 | DSP | c.3213G>T (p.Gln1071His)
| |
6 | g.7579404T>A | CA362683313 | DSP | c.3214T>A (p.Phe1072Ile)
| |
6 | g.7579404T>C | CA362683314 | DSP | c.3214T>C (p.Phe1072Leu)
| |
6 | g.7579404T>G | CA362683315 | DSP | c.3214T>G (p.Phe1072Val)
| |
6 | g.7579405T>A | CA362683316 | DSP | c.3215T>A (p.Phe1072Tyr)
| |
6 | g.7579405T>C | CA362683317 | DSP | c.3215T>C (p.Phe1072Ser)
| |
6 | g.7579405T>G | CA362683318 | DSP | c.3215T>G (p.Phe1072Cys)
| |
6 | g.7579406C>A | CA362683319 | DSP | c.3216C>A (p.Phe1072Leu)
| |
6 | g.7579406C= | CA1608613753 | DSP | c.3216C= (p.Phe1072=)
| |
6 | g.7579406C>G | CA362683320 | DSP | c.3216C>G (p.Phe1072Leu)
| |
6 | g.7579406C>T | CA037429 | DSP | c.3216C>T (p.Phe1072=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579407A>C | CA362683323 | DSP | c.3217A>C (p.Lys1073Gln)
| |
6 | g.7579407A>G | CA362683322 | DSP | c.3217A>G (p.Lys1073Glu)
| |
6 | g.7579407A>T | CA362683321 | DSP | c.3217A>T (p.Lys1073Ter)
| |
6 | g.7579408A= | CA1608613760 | DSP | c.3218A= (p.Lys1073=)
| |
6 | g.7579408A>C | CA362683324 | DSP | c.3218A>C (p.Lys1073Thr)
| |
6 | g.7579408A>G | CA362683325 | DSP | c.3218A>G (p.Lys1073Arg)
| dbSNP gnomAD v4 |
6 | g.7579408A>T | CA362683326 | DSP | c.3218A>T (p.Lys1073Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579409A= | CA1608613765 | DSP | c.3219A= (p.Lys1073=)
| |
6 | g.7579409A>C | CA362683327 | DSP | c.3219A>C (p.Lys1073Asn)
| |
6 | g.7579409A>G | CA448714239 | DSP | c.3219A>G (p.Lys1073=)
| dbSNP |
6 | g.7579409A>T | CA362683328 | DSP | c.3219A>T (p.Lys1073Asn)
| |
6 | g.7579410G>A | CA362683329 | DSP | c.3220G>A (p.Ala1074Thr)
| |
6 | g.7579410G>C | CA362683330 | DSP | c.3220G>C (p.Ala1074Pro)
| |
6 | g.7579410G>T | CA362683331 | DSP | c.3220G>T (p.Ala1074Ser)
| |
6 | g.7579411C>A | CA005778 | DSP | c.3221C>A (p.Ala1074Glu)
| ClinVar dbSNP |
6 | g.7579411C= | CA1608613772 | DSP | c.3221C= (p.Ala1074=)
| |
6 | g.7579411C>G | CA362683332 | DSP | c.3221C>G (p.Ala1074Gly)
| |
6 | g.7579411C>T | CA037465 | DSP | c.3221C>T (p.Ala1074Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579412G>A | CA037479 | DSP | c.3222G>A (p.Ala1074=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.7579412G>C | CA448714240 | DSP | c.3222G>C (p.Ala1074=)
| |
6 | g.7579412G= | CA1608613776 | DSP | c.3222G= (p.Ala1074=)
| |
6 | g.7579412G>T | CA448714241 | DSP | c.3222G>T (p.Ala1074=)
| |
6 | g.7579413A>C | CA362683335 | DSP | c.3223A>C (p.Lys1075Gln)
| |
6 | g.7579413A>G | CA362683334 | DSP | c.3223A>G (p.Lys1075Glu)
| |
6 | g.7579413A>T | CA362683333 | DSP | c.3223A>T (p.Lys1075Ter)
| |
6 | g.7579414A>C | CA362683338 | DSP | c.3224A>C (p.Lys1075Thr)
| |
6 | g.7579414A>G | CA362683336 | DSP | c.3224A>G (p.Lys1075Arg)
| |
6 | g.7579414A>T | CA362683337 | DSP | c.3224A>T (p.Lys1075Met)
| |
6 | g.7579415G>A | CA448714242 | DSP | c.3225G>A (p.Lys1075=)
| |
6 | g.7579415G>C | CA362683339 | DSP | c.3225G>C (p.Lys1075Asn)
| |
6 | g.7579415G>T | CA362683340 | DSP | c.3225G>T (p.Lys1075Asn)
| |
6 | g.7579416C>A | CA362683341 | DSP | c.3226C>A (p.Leu1076Ile)
| |
6 | g.7579416C= | CA1608613783 | DSP | c.3226C= (p.Leu1076=)
| |
6 | g.7579416C>G | CA362683342 | DSP | c.3226C>G (p.Leu1076Val)
| |
6 | g.7579416C>T | CA037492 | DSP | c.3226C>T (p.Leu1076Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579417T>A | CA362683343 | DSP | c.3227T>A (p.Leu1076His)
| |
6 | g.7579417T>C | CA362683344 | DSP | c.3227T>C (p.Leu1076Pro)
| |
6 | g.7579417T>G | CA362683345 | DSP | c.3227T>G (p.Leu1076Arg)
| |
6 | g.7579418T>A | CA448714244 | DSP | c.3228T>A (p.Leu1076=)
| |
6 | g.7579418T>C | CA448714243 | DSP | c.3228T>C (p.Leu1076=)
| ClinVar dbSNP |
6 | g.7579418T>G | CA448714245 | DSP | c.3228T>G (p.Leu1076=)
| |
6 | g.7579418T= | CA1608613798 | DSP | c.3228T= (p.Leu1076=)
| |
6 | g.7579419G>A | CA362683346 | DSP | c.3229G>A (p.Ala1077Thr)
| |
6 | g.7579419G>C | CA362683347 | DSP | c.3229G>C (p.Ala1077Pro)
| |
6 | g.7579419G>T | CA362683348 | DSP | c.3229G>T (p.Ala1077Ser)
| |
6 | g.7579420C>A | CA362683351 | DSP | c.3230C>A (p.Ala1077Glu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579420C= | CA1608613805 | DSP | c.3230C= (p.Ala1077=)
| |
6 | g.7579420C>G | CA362683349 | DSP | c.3230C>G (p.Ala1077Gly)
| dbSNP gnomAD v4 |
6 | g.7579420C>T | CA362683350 | DSP | c.3230C>T (p.Ala1077Val)
| ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.7579421G>A | CA037504 | DSP | c.3231G>A (p.Ala1077=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579421G>C | CA448714246 | DSP | c.3231G>C (p.Ala1077=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579421G= | CA1608613812 | DSP | c.3231G= (p.Ala1077=)
| |
6 | g.7579421G>T | CA037528 | DSP | c.3231G>T (p.Ala1077=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579422A>C | CA362683352 | DSP | c.3232A>C (p.Ser1078Arg)
| |
6 | g.7579422A>G | CA362683353 | DSP | c.3232A>G (p.Ser1078Gly)
| |
6 | g.7579422A>T | CA362683354 | DSP | c.3232A>T (p.Ser1078Cys)
| |
6 | g.7579423G>A | CA362683355 | DSP | c.3233G>A (p.Ser1078Asn)
| |
6 | g.7579423G>C | CA362683356 | DSP | c.3233G>C (p.Ser1078Thr)
| |
6 | g.7579423G>T | CA362683357 | DSP | c.3233G>T (p.Ser1078Ile)
| |
6 | g.7579424C>A | CA362683358 | DSP | c.3234C>A (p.Ser1078Arg)
| |
6 | g.7579424C>G | CA362683359 | DSP | c.3234C>G (p.Ser1078Arg)
| |
6 | g.7579424C>T | CA448714247 | DSP | c.3234C>T (p.Ser1078=)
| |
6 | g.7579425C>A | CA362683360 | DSP | c.3235C>A (p.Leu1079Met)
| |
6 | g.7579425C>G | CA362683361 | DSP | c.3235C>G (p.Leu1079Val)
| |
6 | g.7579425C>T | CA448714248 | DSP | c.3235C>T (p.Leu1079=)
| |
6 | g.7579426T>A | CA362683363 | DSP | c.3236T>A (p.Leu1079Gln)
| |
6 | g.7579426T>C | CA362683364 | DSP | c.3236T>C (p.Leu1079Pro)
| |
6 | g.7579426T>G | CA362683362 | DSP | c.3236T>G (p.Leu1079Arg)
| |
6 | g.7579427G>A | CA448714249 | DSP | c.3237G>A (p.Leu1079=)
| |
6 | g.7579427G>C | CA448714250 | DSP | c.3237G>C (p.Leu1079=)
| |
6 | g.7579427G= | CA1608613826 | DSP | c.3237G= (p.Leu1079=)
| |
6 | g.7579427G>T | CA037543 | DSP | c.3237G>T (p.Leu1079=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579428G>A | CA362683370 | DSP | c.3238G>A (p.Glu1080Lys)
| ClinVar dbSNP |
6 | g.7579428G>C | CA362683367 | DSP | c.3238G>C (p.Glu1080Gln)
| |
6 | g.7579428G= | CA1608613831 | DSP | c.3238G= (p.Glu1080=)
| |
6 | g.7579428G>T | CA362683368 | DSP | c.3238G>T (p.Glu1080Ter)
| |
6 | g.7579429A>C | CA362683371 | DSP | c.3239A>C (p.Glu1080Ala)
| |
6 | g.7579429A>G | CA362683372 | DSP | c.3239A>G (p.Glu1080Gly)
| |
6 | g.7579429A>T | CA362683374 | DSP | c.3239A>T (p.Glu1080Val)
| |
6 | g.7579429_7579430delinsAG | CA1608613838 | DSP | c.3239_3240delinsAG (p.Glu1080=)
| |
6 | g.7579430G>A | CA448714251 | DSP | c.3240G>A (p.Glu1080=)
| gnomAD v4 |
6 | g.7579430G>C | CA362683375 | DSP | c.3240G>C (p.Glu1080Asp)
| |
6 | g.7579430G>T | CA362683377 | DSP | c.3240G>T (p.Glu1080Asp)
| |
6 | g.7579431del | CA133968147 | DSP | c.3241del (p.Glu1081SerfsTer2)
| dbSNP |
6 | g.7579431G>A | CA362683379 | DSP | c.3241G>A (p.Glu1081Lys)
| dbSNP gnomAD v4 COSMIC |
6 | g.7579431G>C | CA362683380 | DSP | c.3241G>C (p.Glu1081Gln)
| |
6 | g.7579431G= | CA1608613848 | DSP | c.3241G= (p.Glu1081=)
| |
6 | g.7579431G>T | CA362683382 | DSP | c.3241G>T (p.Glu1081Ter)
| ClinVar dbSNP |
6 | g.7579432A>C | CA362683386 | DSP | c.3242A>C (p.Glu1081Ala)
| |
6 | g.7579432A>G | CA362683383 | DSP | c.3242A>G (p.Glu1081Gly)
| |
6 | g.7579432A>T | CA362683385 | DSP | c.3242A>T (p.Glu1081Val)
| dbSNP gnomAD v4 |
6 | g.7579433G>A | CA037560 | DSP | c.3243G>A (p.Glu1081=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579433G>C | CA362683389 | DSP | c.3243G>C (p.Glu1081Asp)
| dbSNP |
6 | g.7579433G= | CA1608613862 | DSP | c.3243G= (p.Glu1081=)
| |
6 | g.7579433G>T | CA362683390 | DSP | c.3243G>T (p.Glu1081Asp)
| ClinVar |
6 | g.7579434C>A | CA362683392 | DSP | c.3244C>A (p.Leu1082Met)
| |
6 | g.7579434C>G | CA362683393 | DSP | c.3244C>G (p.Leu1082Val)
| |
6 | g.7579434C>T | CA448714252 | DSP | c.3244C>T (p.Leu1082=)
| ClinVar |
6 | g.7579435T>A | CA362683394 | DSP | c.3245T>A (p.Leu1082Gln)
| |
6 | g.7579435T>C | CA362683396 | DSP | c.3245T>C (p.Leu1082Pro)
| |
6 | g.7579435T>G | CA362683397 | DSP | c.3245T>G (p.Leu1082Arg)
| |
6 | g.7579436G>A | CA448714253 | DSP | c.3246G>A (p.Leu1082=)
| |
6 | g.7579436G>C | CA448714254 | DSP | c.3246G>C (p.Leu1082=)
| |
6 | g.7579436G>T | CA448714255 | DSP | c.3246G>T (p.Leu1082=)
| |
6 | g.7579437A>C | CA362683399 | DSP | c.3247A>C (p.Lys1083Gln)
| |
6 | g.7579437A>G | CA362683401 | DSP | c.3247A>G (p.Lys1083Glu)
| |
6 | g.7579437A>T | CA362683402 | DSP | c.3247A>T (p.Lys1083Ter)
| |
6 | g.7579438A>C | CA362683405 | DSP | c.3248A>C (p.Lys1083Thr)
| |
6 | g.7579438A>G | CA362683406 | DSP | c.3248A>G (p.Lys1083Arg)
| |
6 | g.7579438A>T | CA362683404 | DSP | c.3248A>T (p.Lys1083Met)
| |
6 | g.7579439G>A | CA037576 | DSP | c.3249G>A (p.Lys1083=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579439G>C | CA362683407 | DSP | c.3249G>C (p.Lys1083Asn)
| |
6 | g.7579439G= | CA1608613865 | DSP | c.3249G= (p.Lys1083=)
| |
6 | g.7579439G>T | CA362683408 | DSP | c.3249G>T (p.Lys1083Asn)
| |
6 | g.7579440A>C | CA448714256 | DSP | c.3250A>C (p.Arg1084=)
| |
6 | g.7579440A>G | CA362683410 | DSP | c.3250A>G (p.Arg1084Gly)
| |
6 | g.7579440A>T | CA362683412 | DSP | c.3250A>T (p.Arg1084Ter)
| |
6 | g.7579441G>A | CA362683417 | DSP | c.3251G>A (p.Arg1084Lys)
| gnomAD v4 |
6 | g.7579441G>C | CA362683414 | DSP | c.3251G>C (p.Arg1084Thr)
| |
6 | g.7579441G>T | CA362683415 | DSP | c.3251G>T (p.Arg1084Ile)
| |
6 | g.7579442A>C | CA362683419 | DSP | c.3252A>C (p.Arg1084Ser)
| |
6 | g.7579442A>G | CA448714257 | DSP | c.3252A>G (p.Arg1084=)
| gnomAD v4 |
6 | g.7579442A>T | CA362683421 | DSP | c.3252A>T (p.Arg1084Ser)
| |
6 | g.7579443C>A | CA362683422 | DSP | c.3253C>A (p.Gln1085Lys)
| |
6 | g.7579443C= | CA1608613871 | DSP | c.3253C= (p.Gln1085=)
| |
6 | g.7579443C>G | CA362683423 | DSP | c.3253C>G (p.Gln1085Glu)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579443C>T | CA362683424 | DSP | c.3253C>T (p.Gln1085Ter)
| ClinVar dbSNP |
6 | g.7579444A= | CA1608613873 | DSP | c.3254A= (p.Gln1085=)
| |
6 | g.7579444A>C | CA362683426 | DSP | c.3254A>C (p.Gln1085Pro)
| |
6 | g.7579444A>G | CA362683429 | DSP | c.3254A>G (p.Gln1085Arg)
| |
6 | g.7579444A>T | CA362683428 | DSP | c.3254A>T (p.Gln1085Leu)
| ClinVar dbSNP |
6 | g.7579445G>A | CA448714258 | DSP | c.3255G>A (p.Gln1085=)
| gnomAD v4 |
6 | g.7579445G>C | CA362683431 | DSP | c.3255G>C (p.Gln1085His)
| |
6 | g.7579445G= | CA1608613882 | DSP | c.3255G= (p.Gln1085=)
| |
6 | g.7579445G>T | CA362683433 | DSP | c.3255G>T (p.Gln1085His)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579449_7579469dup | CA565358124 | DSP | c.3259_3279dup (p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579446G>A | CA362683434 | DSP | c.3256G>A (p.Ala1086Thr)
| |
6 | g.7579446G>C | CA362683435 | DSP | c.3256G>C (p.Ala1086Pro)
| |
6 | g.7579446G>T | CA362683437 | DSP | c.3256G>T (p.Ala1086Ser)
| |
6 | g.7579447C>A | CA362683438 | DSP | c.3257C>A (p.Ala1086Asp)
| |
6 | g.7579447C>G | CA362683440 | DSP | c.3257C>G (p.Ala1086Gly)
| |
6 | g.7579447C>T | CA362683441 | DSP | c.3257C>T (p.Ala1086Val)
| |
6 | g.7579448T>A | CA448714259 | DSP | c.3258T>A (p.Ala1086=)
| |
6 | g.7579448T>C | CA448714260 | DSP | c.3258T>C (p.Ala1086=)
| |
6 | g.7579448T>G | CA448714261 | DSP | c.3258T>G (p.Ala1086=)
| |
6 | g.7579449G>A | CA362683443 | DSP | c.3259G>A (p.Glu1087Lys)
| ClinVar dbSNP gnomAD v4 |
6 | g.7579449G>C | CA362683444 | DSP | c.3259G>C (p.Glu1087Gln)
| |
6 | g.7579449G= | CA1608613887 | DSP | c.3259G= (p.Glu1087=)
| |
6 | g.7579449G>T | CA362683446 | DSP | c.3259G>T (p.Glu1087Ter)
| |
6 | g.7579450A>C | CA362683451 | DSP | c.3260A>C (p.Glu1087Ala)
| |
6 | g.7579450A>G | CA362683449 | DSP | c.3260A>G (p.Glu1087Gly)
| |
6 | g.7579450A>T | CA362683448 | DSP | c.3260A>T (p.Glu1087Val)
| |
6 | g.7579451G>A | CA133968170 | DSP | c.3261G>A (p.Glu1087=)
| ClinVar dbSNP gnomAD v4 |
6 | g.7579451G>C | CA362683452 | DSP | c.3261G>C (p.Glu1087Asp)
| gnomAD v4 |
6 | g.7579451G= | CA1608613895 | DSP | c.3261G= (p.Glu1087=)
| |
6 | g.7579451G>T | CA362683453 | DSP | c.3261G>T (p.Glu1087Asp)
| |
6 | g.7579452C>A | CA362683455 | DSP | c.3262C>A (p.Leu1088Met)
| |
6 | g.7579452C>G | CA362683456 | DSP | c.3262C>G (p.Leu1088Val)
| |
6 | g.7579452C>T | CA448714262 | DSP | c.3262C>T (p.Leu1088=)
| ClinVar gnomAD v4 |
6 | g.7579453T>A | CA362683458 | DSP | c.3263T>A (p.Leu1088Gln)
| |
6 | g.7579453T>C | CA362683460 | DSP | c.3263T>C (p.Leu1088Pro)
| ClinVar |
6 | g.7579453T>G | CA362683461 | DSP | c.3263T>G (p.Leu1088Arg)
| |
6 | g.7579454G>A | CA448714265 | DSP | c.3264G>A (p.Leu1088=)
| |
6 | g.7579454G>C | CA448714264 | DSP | c.3264G>C (p.Leu1088=)
| |
6 | g.7579454G>T | CA448714263 | DSP | c.3264G>T (p.Leu1088=)
| ClinVar |
6 | g.7579455G>A | CA362683463 | DSP | c.3265G>A (p.Asp1089Asn)
| |
6 | g.7579455G>C | CA362683464 | DSP | c.3265G>C (p.Asp1089His)
| |
6 | g.7579455G>T | CA362683466 | DSP | c.3265G>T (p.Asp1089Tyr)
| |
6 | g.7579456A>C | CA362683468 | DSP | c.3266A>C (p.Asp1089Ala)
| |
6 | g.7579456A>G | CA362683469 | DSP | c.3266A>G (p.Asp1089Gly)
| |
6 | g.7579456A>T | CA362683471 | DSP | c.3266A>T (p.Asp1089Val)
| |
6 | g.7579457T>A | CA362683472 | DSP | c.3267T>A (p.Asp1089Glu)
| |
6 | g.7579457T>C | CA448714266 | DSP | c.3267T>C (p.Asp1089=)
| |
6 | g.7579457T>G | CA362683474 | DSP | c.3267T>G (p.Asp1089Glu)
| |
6 | g.7579458G>A | CA362683478 | DSP | c.3268G>A (p.Gly1090Arg)
| |
6 | g.7579458G>C | CA362683475 | DSP | c.3268G>C (p.Gly1090Arg)
| |
6 | g.7579458G>T | CA362683476 | DSP | c.3268G>T (p.Gly1090Trp)
| |
6 | g.7579459G>A | CA362683480 | DSP | c.3269G>A (p.Gly1090Glu)
| |
6 | g.7579459G>C | CA362683482 | DSP | c.3269G>C (p.Gly1090Ala)
| |
6 | g.7579459G>T | CA362683483 | DSP | c.3269G>T (p.Gly1090Val)
| |
6 | g.7579460G>A | CA448714267 | DSP | c.3270G>A (p.Gly1090=)
| gnomAD v4 |
6 | g.7579460G>C | CA448714269 | DSP | c.3270G>C (p.Gly1090=)
| |
6 | g.7579460G>T | CA448714268 | DSP | c.3270G>T (p.Gly1090=)
| |
6 | g.7579461A>C | CA362683485 | DSP | c.3271A>C (p.Lys1091Gln)
| |
6 | g.7579461A>G | CA362683487 | DSP | c.3271A>G (p.Lys1091Glu)
| |
6 | g.7579461A>T | CA362683489 | DSP | c.3271A>T (p.Lys1091Ter)
| |
6 | g.7579462A= | CA1608613901 | DSP | c.3272A= (p.Lys1091=)
| |
6 | g.7579462A>C | CA362683490 | DSP | c.3272A>C (p.Lys1091Thr)
| |
6 | g.7579462A>G | CA037590 | DSP | c.3272A>G (p.Lys1091Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579462A>T | CA362683491 | DSP | c.3272A>T (p.Lys1091Met)
| |
6 | g.7579463G>A | CA448714270 | DSP | c.3273G>A (p.Lys1091=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579463G>C | CA362683493 | DSP | c.3273G>C (p.Lys1091Asn)
| |
6 | g.7579463G= | CA1608613906 | DSP | c.3273G= (p.Lys1091=)
| |
6 | g.7579463G>T | CA362683495 | DSP | c.3273G>T (p.Lys1091Asn)
| |
6 | g.7579464T>A | CA362683499 | DSP | c.3274T>A (p.Ser1092Thr)
| |
6 | g.7579464T>C | CA133968189 | DSP | c.3274T>C (p.Ser1092Pro)
| dbSNP |
6 | g.7579464T>G | CA362683497 | DSP | c.3274T>G (p.Ser1092Ala)
| dbSNP |
6 | g.7579464T= | CA1608613912 | DSP | c.3274T= (p.Ser1092=)
| |
6 | g.7579465C>A | CA362683501 | DSP | c.3275C>A (p.Ser1092Ter)
| |
6 | g.7579465C= | CA1608613915 | DSP | c.3275C= (p.Ser1092=)
| |
6 | g.7579465C>G | CA362683503 | DSP | c.3275C>G (p.Ser1092Trp)
| |
6 | g.7579465C>T | CA037613 | DSP | c.3275C>T (p.Ser1092Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579466G>A | CA037625 | DSP | c.3276G>A (p.Ser1092=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579466G>C | CA037645 | DSP | c.3276G>C (p.Ser1092=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579466G= | CA1608613931 | DSP | c.3276G= (p.Ser1092=)
| |
6 | g.7579466G>T | CA448714271 | DSP | c.3276G>T (p.Ser1092=)
| |
6 | g.7579467G>A | CA362683508 | DSP | c.3277G>A (p.Ala1093Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579467G>C | CA362683507 | DSP | c.3277G>C (p.Ala1093Pro)
| |
6 | g.7579467G= | CA1608613941 | DSP | c.3277G= (p.Ala1093=)
| |
6 | g.7579467G>T | CA362683506 | DSP | c.3277G>T (p.Ala1093Ser)
| |
6 | g.7579468C>A | CA362683511 | DSP | c.3278C>A (p.Ala1093Asp)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579468C= | CA1608613947 | DSP | c.3278C= (p.Ala1093=)
| |
6 | g.7579468C>G | CA362683512 | DSP | c.3278C>G (p.Ala1093Gly)
| |
6 | g.7579468C>T | CA362683513 | DSP | c.3278C>T (p.Ala1093Val)
| gnomAD v4 |
6 | g.7579469T>A | CA448714347 | DSP | c.3279T>A (p.Ala1093=)
| |
6 | g.7579469T>C | CA448714349 | DSP | c.3279T>C (p.Ala1093=)
| |
6 | g.7579469T>G | CA448714351 | DSP | c.3279T>G (p.Ala1093=)
| |
6 | g.7579470A>C | CA362683515 | DSP | c.3280A>C (p.Lys1094Gln)
| |
6 | g.7579470A>G | CA362683516 | DSP | c.3280A>G (p.Lys1094Glu)
| gnomAD v4 |
6 | g.7579470A>T | CA362683517 | DSP | c.3280A>T (p.Lys1094Ter)
| |
6 | g.7579471A>C | CA362683519 | DSP | c.3281A>C (p.Lys1094Thr)
| |
6 | g.7579471A>G | CA362683523 | DSP | c.3281A>G (p.Lys1094Arg)
| |
6 | g.7579471A>T | CA362683521 | DSP | c.3281A>T (p.Lys1094Met)
| |
6 | g.7579472G>A | CA037679 | DSP | c.3282G>A (p.Lys1094=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579472G>C | CA037692 | DSP | c.3282G>C (p.Lys1094Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579472G= | CA1608613953 | DSP | c.3282G= (p.Lys1094=)
| |
6 | g.7579472G>T | CA133968241 | DSP | c.3282G>T (p.Lys1094Asn)
| dbSNP |
6 | g.7579473C>A | CA362683527 | DSP | c.3283C>A (p.Gln1095Lys)
| |
6 | g.7579473C>G | CA362683528 | DSP | c.3283C>G (p.Gln1095Glu)
| |
6 | g.7579473C>T | CA362683530 | DSP | c.3283C>T (p.Gln1095Ter)
| |
6 | g.7579474A>C | CA362683532 | DSP | c.3284A>C (p.Gln1095Pro)
| |
6 | g.7579474A>G | CA362683534 | DSP | c.3284A>G (p.Gln1095Arg)
| |
6 | g.7579474A>T | CA362683535 | DSP | c.3284A>T (p.Gln1095Leu)
| |
6 | g.7579475A>C | CA362683536 | DSP | c.3285A>C (p.Gln1095His)
| |
6 | g.7579475A>G | CA448714359 | DSP | c.3285A>G (p.Gln1095=)
| |
6 | g.7579475A>T | CA362683538 | DSP | c.3285A>T (p.Gln1095His)
| |