Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2496181C>A | CA394374201 | TBC1D24 | c.33C>A (p.Asp11Glu) n.215C>A | |
16 | g.2496181C>G | CA394374202 | TBC1D24 | c.33C>G (p.Asp11Glu) n.215C>G | |
16 | g.2496181C>T | CA493160091 | TBC1D24 | c.33C>T (p.Asp11=) n.215C>T | |
16 | g.2496182A>C | CA394374207 | TBC1D24 | c.34A>C (p.Lys12Gln) n.216A>C | |
16 | g.2496182A>G | CA394374209 | TBC1D24 | c.34A>G (p.Lys12Glu) n.216A>G | |
16 | g.2496182A>T | CA394374205 | TBC1D24 | c.34A>T (p.Lys12Ter) n.216A>T | |
16 | g.2496183A>C | CA394374212 | TBC1D24 | c.35A>C (p.Lys12Thr) n.217A>C | |
16 | g.2496183A>G | CA394374214 | TBC1D24 | c.35A>G (p.Lys12Arg) n.217A>G | |
16 | g.2496183A>T | CA394374216 | TBC1D24 | c.35A>T (p.Lys12Ile) n.217A>T | |
16 | g.2496184A= | CA2202259670 | TBC1D24 | c.36A= (p.Lys12=) n.218A= | |
16 | g.2496184A>C | CA394374219 | TBC1D24 | c.36A>C (p.Lys12Asn) n.218A>C | |
16 | g.2496184A>G | CA7843909 | TBC1D24 | c.36A>G (p.Lys12=) n.218A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496184A>T | CA394374221 | TBC1D24 | c.36A>T (p.Lys12Asn) n.218A>T | gnomAD v4 |
16 | g.2496185G>A | CA276809607 | TBC1D24 | c.37G>A (p.Asp13Asn) n.219G>A | ClinVar dbSNP |
16 | g.2496185G>C | CA394374225 | TBC1D24 | c.37G>C (p.Asp13His) n.219G>C | |
16 | g.2496185G= | CA2202259671 | TBC1D24 | c.37G= (p.Asp13=) n.219G= | |
16 | g.2496185G>T | CA394374227 | TBC1D24 | c.37G>T (p.Asp13Tyr) n.219G>T | |
16 | g.2496186A= | CA2202259672 | TBC1D24 | c.38A= (p.Asp13=) n.220A= | |
16 | g.2496186A>C | CA394374229 | TBC1D24 | c.38A>C (p.Asp13Ala) n.220A>C | |
16 | g.2496186A>G | CA394374231 | TBC1D24 | c.38A>G (p.Asp13Gly) n.220A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496186A>T | CA394374233 | TBC1D24 | c.38A>T (p.Asp13Val) n.220A>T | |
16 | g.2496187C>A | CA394374237 | TBC1D24 | c.39C>A (p.Asp13Glu) n.221C>A | |
16 | g.2496187C= | CA2202259673 | TBC1D24 | c.39C= (p.Asp13=) n.221C= | |
16 | g.2496187C>G | CA394374238 | TBC1D24 | c.39C>G (p.Asp13Glu) n.221C>G | |
16 | g.2496187C>T | CA7843910 | TBC1D24 | c.39C>T (p.Asp13=) n.221C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496188A>C | CA394374240 | TBC1D24 | c.40A>C (p.Lys14Gln) n.222A>C | |
16 | g.2496188A>G | CA394374242 | TBC1D24 | c.40A>G (p.Lys14Glu) n.222A>G | |
16 | g.2496188A>T | CA394374244 | TBC1D24 | c.40A>T (p.Lys14Ter) n.222A>T | |
16 | g.2496189A>C | CA394374246 | TBC1D24 | c.41A>C (p.Lys14Thr) n.223A>C | gnomAD v4 |
16 | g.2496189A>G | CA394374248 | TBC1D24 | c.41A>G (p.Lys14Arg) n.223A>G | |
16 | g.2496189A>T | CA394374250 | TBC1D24 | c.41A>T (p.Lys14Met) n.223A>T | |
16 | g.2496190G>A | CA493160123 | TBC1D24 | c.42G>A (p.Lys14=) n.224G>A | gnomAD v4 |
16 | g.2496190G>C | CA394374251 | TBC1D24 | c.42G>C (p.Lys14Asn) n.224G>C | |
16 | g.2496190G>T | CA394374252 | TBC1D24 | c.42G>T (p.Lys14Asn) n.224G>T | |
16 | g.2496191A>C | CA394374255 | TBC1D24 | c.43A>C (p.Met15Leu) n.225A>C | |
16 | g.2496191A>G | CA394374257 | TBC1D24 | c.43A>G (p.Met15Val) n.225A>G | gnomAD v4 |
16 | g.2496191A>T | CA394374259 | TBC1D24 | c.43A>T (p.Met15Leu) n.225A>T | |
16 | g.2496192T>A | CA394374261 | TBC1D24 | c.44T>A (p.Met15Lys) n.226T>A | |
16 | g.2496192T>C | CA394374263 | TBC1D24 | c.44T>C (p.Met15Thr) n.226T>C | |
16 | g.2496192T>G | CA394374265 | TBC1D24 | c.44T>G (p.Met15Arg) n.226T>G | |
16 | g.2496193G>A | CA394374270 | TBC1D24 | c.45G>A (p.Met15Ile) n.227G>A | gnomAD v4 |
16 | g.2496193G>C | CA394374269 | TBC1D24 | c.45G>C (p.Met15Ile) n.227G>C | ClinVar |
16 | g.2496193G>T | CA394374267 | TBC1D24 | c.45G>T (p.Met15Ile) n.227G>T | |
16 | g.2496194G>A | CA7843911 | TBC1D24 | c.46G>A (p.Asp16Asn) n.228G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496194G>C | CA394374273 | TBC1D24 | c.46G>C (p.Asp16His) n.228G>C | COSMIC |
16 | g.2496194G= | CA2202259674 | TBC1D24 | c.46G= (p.Asp16=) n.228G= | |
16 | g.2496194G>T | CA394374275 | TBC1D24 | c.46G>T (p.Asp16Tyr) n.228G>T | gnomAD v4 |
16 | g.2496195A>C | CA394374278 | TBC1D24 | c.47A>C (p.Asp16Ala) n.229A>C | |
16 | g.2496195A>G | CA394374280 | TBC1D24 | c.47A>G (p.Asp16Gly) n.229A>G | |
16 | g.2496195A>T | CA394374282 | TBC1D24 | c.47A>T (p.Asp16Val) n.229A>T | |
16 | g.2496196C>A | CA394374288 | TBC1D24 | c.48C>A (p.Asp16Glu) n.230C>A | |
16 | g.2496196C= | CA2202259675 | TBC1D24 | c.48C= (p.Asp16=) n.230C= | |
16 | g.2496196C>G | CA394374286 | TBC1D24 | c.48C>G (p.Asp16Glu) n.230C>G | |
16 | g.2496196C>T | CA7843912 | TBC1D24 | c.48C>T (p.Asp16=) n.230C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496197G>A | CA7843913 | TBC1D24 | c.49G>A (p.Ala17Thr) n.231G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496197G>C | CA394374292 | TBC1D24 | c.49G>C (p.Ala17Pro) n.231G>C | |
16 | g.2496197G= | CA2202259676 | TBC1D24 | c.49G= (p.Ala17=) n.231G= | |
16 | g.2496197G>T | CA394374294 | TBC1D24 | c.49G>T (p.Ala17Ser) n.231G>T | |
16 | g.2496198C>A | CA394374297 | TBC1D24 | c.50C>A (p.Ala17Asp) n.232C>A | |
16 | g.2496198C>G | CA394374298 | TBC1D24 | c.50C>G (p.Ala17Gly) n.232C>G | |
16 | g.2496198C>T | CA394374299 | TBC1D24 | c.50C>T (p.Ala17Val) n.232C>T | |
16 | g.2496199T>A | CA493160160 | TBC1D24 | c.51T>A (p.Ala17=) n.233T>A | |
16 | g.2496199T>C | CA493160165 | TBC1D24 | c.51T>C (p.Ala17=) n.233T>C | |
16 | g.2496199T>G | CA493160162 | TBC1D24 | c.51T>G (p.Ala17=) n.233T>G | |
16 | g.2496200G>A | CA394374306 | TBC1D24 | c.52G>A (p.Ala18Thr) n.234G>A | dbSNP gnomAD v2 |
16 | g.2496200G>C | CA394374302 | TBC1D24 | c.52G>C (p.Ala18Pro) n.234G>C | |
16 | g.2496200G= | CA2202259677 | TBC1D24 | c.52G= (p.Ala18=) n.234G= | |
16 | g.2496200G>T | CA394374304 | TBC1D24 | c.52G>T (p.Ala18Ser) n.234G>T | |
16 | g.2496201C>A | CA394374307 | TBC1D24 | c.53C>A (p.Ala18Asp) n.235C>A | |
16 | g.2496201C>G | CA394374308 | TBC1D24 | c.53C>G (p.Ala18Gly) n.235C>G | |
16 | g.2496201C>T | CA394374309 | TBC1D24 | c.53C>T (p.Ala18Val) n.235C>T | gnomAD v4 |
16 | g.2496202C>A | CA493160175 | TBC1D24 | c.54C>A (p.Ala18=) n.236C>A | |
16 | g.2496202C= | CA2202259678 | TBC1D24 | c.54C= (p.Ala18=) n.236C= | |
16 | g.2496202C>G | CA493160178 | TBC1D24 | c.54C>G (p.Ala18=) n.236C>G | |
16 | g.2496202C>T | CA493160179 | TBC1D24 | c.54C>T (p.Ala18=) n.236C>T | dbSNP |
16 | g.2496203A= | CA2202259679 | TBC1D24 | c.55A= (p.Ile19=) n.237A= | |
16 | g.2496203A>C | CA394374312 | TBC1D24 | c.55A>C (p.Ile19Leu) n.237A>C | |
16 | g.2496203A>G | CA394374313 | TBC1D24 | c.55A>G (p.Ile19Val) n.237A>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496203A>T | CA394374314 | TBC1D24 | c.55A>T (p.Ile19Phe) n.237A>T | |
16 | g.2496204del | CA2573152001 | TBC1D24 | c.56del (p.Ile19ThrfsTer9) n.238del | ClinVar dbSNP |
16 | g.2496204T>A | CA394374317 | TBC1D24 | c.56T>A (p.Ile19Asn) n.238T>A | |
16 | g.2496204T>C | CA394374318 | TBC1D24 | c.56T>C (p.Ile19Thr) n.238T>C | |
16 | g.2496204T>G | CA394374319 | TBC1D24 | c.56T>G (p.Ile19Ser) n.238T>G | |
16 | g.2496205C>A | CA493160195 | TBC1D24 | c.57C>A (p.Ile19=) n.239C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496205C= | CA2202259680 | TBC1D24 | c.57C= (p.Ile19=) n.239C= | |
16 | g.2496205C>G | CA394374322 | TBC1D24 | c.57C>G (p.Ile19Met) n.239C>G | |
16 | g.2496205C>T | CA493160199 | TBC1D24 | c.57C>T (p.Ile19=) n.239C>T | gnomAD v4 |
16 | g.2496206C>A | CA394374324 | TBC1D24 | c.58C>A (p.Gln20Lys) n.240C>A | |
16 | g.2496206C= | CA2202259681 | TBC1D24 | c.58C= (p.Gln20=) n.240C= | |
16 | g.2496206C>G | CA266220 | TBC1D24 | c.58C>G (p.Gln20Glu) n.240C>G | ClinVar dbSNP |
16 | g.2496206C>T | CA7843914 | TBC1D24 | c.58C>T (p.Gln20Ter) n.240C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496207A>C | CA394374329 | TBC1D24 | c.59A>C (p.Gln20Pro) n.241A>C | |
16 | g.2496207A>G | CA394374333 | TBC1D24 | c.59A>G (p.Gln20Arg) n.241A>G | gnomAD v4 |
16 | g.2496207A>T | CA394374331 | TBC1D24 | c.59A>T (p.Gln20Leu) n.241A>T | |
16 | g.2496208G>A | CA493160214 | TBC1D24 | c.60G>A (p.Gln20=) n.242G>A | |
16 | g.2496208G>C | CA394374335 | TBC1D24 | c.60G>C (p.Gln20His) n.242G>C | |
16 | g.2496208G>T | CA394374337 | TBC1D24 | c.60G>T (p.Gln20His) n.242G>T | |
16 | g.2496209G>A | CA394374339 | TBC1D24 | c.61G>A (p.Asp21Asn) n.243G>A | |
16 | g.2496209G>C | CA394374341 | TBC1D24 | c.61G>C (p.Asp21His) n.243G>C | |
16 | g.2496209G>T | CA394374343 | TBC1D24 | c.61G>T (p.Asp21Tyr) n.243G>T | |
16 | g.2496210A>C | CA394374345 | TBC1D24 | c.62A>C (p.Asp21Ala) n.244A>C | |
16 | g.2496210A>G | CA394374347 | TBC1D24 | c.62A>G (p.Asp21Gly) n.244A>G | |
16 | g.2496210A>T | CA394374349 | TBC1D24 | c.62A>T (p.Asp21Val) n.244A>T | gnomAD v4 |
16 | g.2496211C>A | CA394374352 | TBC1D24 | c.63C>A (p.Asp21Glu) n.245C>A | |
16 | g.2496211C>G | CA394374354 | TBC1D24 | c.63C>G (p.Asp21Glu) n.245C>G | |
16 | g.2496211C>T | CA493160238 | TBC1D24 | c.63C>T (p.Asp21=) n.245C>T | gnomAD v4 COSMIC |
16 | g.2496212C>A | CA394374356 | TBC1D24 | c.64C>A (p.Leu22Met) n.246C>A | |
16 | g.2496212C= | CA2202259682 | TBC1D24 | c.64C= (p.Leu22=) n.246C= | |
16 | g.2496212C>G | CA394374358 | TBC1D24 | c.64C>G (p.Leu22Val) n.246C>G | |
16 | g.2496212C>T | CA7843915 | TBC1D24 | c.64C>T (p.Leu22=) n.246C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496213T>A | CA394374366 | TBC1D24 | c.65T>A (p.Leu22Gln) n.247T>A | |
16 | g.2496213T>C | CA394374362 | TBC1D24 | c.65T>C (p.Leu22Pro) n.247T>C | |
16 | g.2496213T>G | CA394374364 | TBC1D24 | c.65T>G (p.Leu22Arg) n.247T>G | |
16 | g.2496214G>A | CA493160253 | TBC1D24 | c.66G>A (p.Leu22=) n.248G>A | gnomAD v4 |
16 | g.2496214G>C | CA493160255 | TBC1D24 | c.66G>C (p.Leu22=) n.248G>C | |
16 | g.2496214G>T | CA493160256 | TBC1D24 | c.66G>T (p.Leu22=) n.248G>T | |
16 | g.2496215G>A | CA394374368 | TBC1D24 | c.67G>A (p.Gly23Arg) n.249G>A | |
16 | g.2496215G>C | CA394374371 | TBC1D24 | c.67G>C (p.Gly23Arg) n.249G>C | ClinVar dbSNP |
16 | g.2496215G>T | CA394374374 | TBC1D24 | c.67G>T (p.Gly23Trp) n.249G>T | |
16 | g.2496216G>A | CA394374376 | TBC1D24 | c.68G>A (p.Gly23Glu) n.250G>A | ClinVar dbSNP |
16 | g.2496216G>C | CA394374377 | TBC1D24 | c.68G>C (p.Gly23Ala) n.250G>C | |
16 | g.2496216G= | CA2202259683 | TBC1D24 | c.68G= (p.Gly23=) n.250G= | |
16 | g.2496216G>T | CA394374379 | TBC1D24 | c.68G>T (p.Gly23Val) n.250G>T | |
16 | g.2496217G>A | CA493160273 | TBC1D24 | c.69G>A (p.Gly23=) n.251G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496217G>C | CA493160275 | TBC1D24 | c.69G>C (p.Gly23=) n.251G>C | |
16 | g.2496217G= | CA2202259684 | TBC1D24 | c.69G= (p.Gly23=) n.251G= | |
16 | g.2496217G>T | CA493160278 | TBC1D24 | c.69G>T (p.Gly23=) n.251G>T | |
16 | g.2496218C>A | CA394374382 | TBC1D24 | c.70C>A (p.Pro24Thr) n.252C>A | gnomAD v4 |
16 | g.2496218C>G | CA394374383 | TBC1D24 | c.70C>G (p.Pro24Ala) n.252C>G | |
16 | g.2496218C>T | CA394374384 | TBC1D24 | c.70C>T (p.Pro24Ser) n.252C>T | |
16 | g.2496219C>A | CA394374387 | TBC1D24 | c.71C>A (p.Pro24His) n.253C>A | |
16 | g.2496219C>G | CA394374388 | TBC1D24 | c.71C>G (p.Pro24Arg) n.253C>G | |
16 | g.2496219C>T | CA394374391 | TBC1D24 | c.71C>T (p.Pro24Leu) n.253C>T | |
16 | g.2496220C>A | CA493160303 | TBC1D24 | c.72C>A (p.Pro24=) n.254C>A | |
16 | g.2496220C= | CA2202259685 | TBC1D24 | c.72C= (p.Pro24=) n.254C= | |
16 | g.2496220C>G | CA493160302 | TBC1D24 | c.72C>G (p.Pro24=) n.254C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496220C>T | CA493160301 | TBC1D24 | c.72C>T (p.Pro24=) n.254C>T | dbSNP |
16 | g.2496221A>C | CA394374396 | TBC1D24 | c.73A>C (p.Lys25Gln) n.255A>C | |
16 | g.2496221A>G | CA394374398 | TBC1D24 | c.73A>G (p.Lys25Glu) n.255A>G | gnomAD v4 |
16 | g.2496221A>T | CA394374393 | TBC1D24 | c.73A>T (p.Lys25Ter) n.255A>T | |
16 | g.2496222A= | CA2202259686 | TBC1D24 | c.74A= (p.Lys25=) n.256A= | |
16 | g.2496222A>C | CA394374399 | TBC1D24 | c.74A>C (p.Lys25Thr) n.256A>C | |
16 | g.2496222A>G | CA7843916 | TBC1D24 | c.74A>G (p.Lys25Arg) n.256A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496222A>T | CA394374400 | TBC1D24 | c.74A>T (p.Lys25Met) n.256A>T | |
16 | g.2496223G>A | CA493160320 | TBC1D24 | c.75G>A (p.Lys25=) n.257G>A | |
16 | g.2496223G>C | CA394374404 | TBC1D24 | c.75G>C (p.Lys25Asn) n.257G>C | |
16 | g.2496223G>T | CA394374406 | TBC1D24 | c.75G>T (p.Lys25Asn) n.257G>T | gnomAD v4 |
16 | g.2496224G>A | CA394374407 | TBC1D24 | c.76G>A (p.Glu26Lys) n.258G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496224G>C | CA394374408 | TBC1D24 | c.76G>C (p.Glu26Gln) n.258G>C | |
16 | g.2496224G= | CA2202259689 | TBC1D24 | c.76G= (p.Glu26=) n.258G= | |
16 | g.2496224G>T | CA7843917 | TBC1D24 | c.76G>T (p.Glu26Ter) n.258G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496224_2496225delinsGA | CA2202259688 | TBC1D24 | c.76_77delinsGA (p.Glu26=) n.258_259delinsGA | |
16 | g.2496224_2496225delinsTT | CA2202259687 | TBC1D24 | c.76_77delinsTT (p.Glu26Leu) n.258_259delinsTT | ClinVar dbSNP |
16 | g.2496225A= | CA2202259690 | TBC1D24 | c.77A= (p.Glu26=) n.259A= | |
16 | g.2496225A>C | CA394374411 | TBC1D24 | c.77A>C (p.Glu26Ala) n.259A>C | ClinVar |
16 | g.2496225A>G | CA394374413 | TBC1D24 | c.77A>G (p.Glu26Gly) n.259A>G | |
16 | g.2496225A>T | CA7843918 | TBC1D24 | c.77A>T (p.Glu26Val) n.259A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496226G>A | CA493160335 | TBC1D24 | c.78G>A (p.Glu26=) n.260G>A | |
16 | g.2496226G>C | CA394374419 | TBC1D24 | c.78G>C (p.Glu26Asp) n.260G>C | |
16 | g.2496226G>T | CA394374421 | TBC1D24 | c.78G>T (p.Glu26Asp) n.260G>T | |
16 | g.2496227C>A | CA394374423 | TBC1D24 | c.79C>A (p.Leu27Met) n.261C>A | |
16 | g.2496227C>G | CA394374424 | TBC1D24 | c.79C>G (p.Leu27Val) n.261C>G | |
16 | g.2496227C>T | CA493160342 | TBC1D24 | c.79C>T (p.Leu27=) n.261C>T | gnomAD v4 |
16 | g.2496228T>A | CA394374428 | TBC1D24 | c.80T>A (p.Leu27Gln) n.262T>A | |
16 | g.2496228T>C | CA394374429 | TBC1D24 | c.80T>C (p.Leu27Pro) n.262T>C | |
16 | g.2496228T>G | CA394374431 | TBC1D24 | c.80T>G (p.Leu27Arg) n.262T>G | |
16 | g.2496229G>A | CA493160347 | TBC1D24 | c.81G>A (p.Leu27=) n.263G>A | dbSNP |
16 | g.2496229G>C | CA493160350 | TBC1D24 | c.81G>C (p.Leu27=) n.263G>C | |
16 | g.2496229G= | CA2202259691 | TBC1D24 | c.81G= (p.Leu27=) n.263G= | |
16 | g.2496229G>T | CA493160353 | TBC1D24 | c.81G>T (p.Leu27=) n.263G>T | |
16 | g.2496230del | CA2631209014 | TBC1D24 | c.82del (p.Ser28AlafsTer8) n.264del | gnomAD v4 |
16 | g.2496230A>C | CA394374433 | TBC1D24 | c.82A>C (p.Ser28Arg) n.264A>C | |
16 | g.2496230A>G | CA394374438 | TBC1D24 | c.82A>G (p.Ser28Gly) n.264A>G | gnomAD v4 |
16 | g.2496230A>T | CA394374435 | TBC1D24 | c.82A>T (p.Ser28Cys) n.264A>T | |
16 | g.2496231G>A | CA394374441 | TBC1D24 | c.83G>A (p.Ser28Asn) n.265G>A | gnomAD v4 |
16 | g.2496231G>C | CA394374442 | TBC1D24 | c.83G>C (p.Ser28Thr) n.265G>C | |
16 | g.2496231G= | CA2202259692 | TBC1D24 | c.83G= (p.Ser28=) n.265G= | |
16 | g.2496231G>T | CA394374445 | TBC1D24 | c.83G>T (p.Ser28Ile) n.265G>T | dbSNP |
16 | g.2496232C>A | CA394374449 | TBC1D24 | c.84C>A (p.Ser28Arg) n.266C>A | |
16 | g.2496232C>G | CA394374450 | TBC1D24 | c.84C>G (p.Ser28Arg) n.266C>G | |
16 | g.2496232C>T | CA493160373 | TBC1D24 | c.84C>T (p.Ser28=) n.266C>T | |
16 | g.2496233T>A | CA394374453 | TBC1D24 | c.85T>A (p.Cys29Ser) n.267T>A | |
16 | g.2496233T>C | CA394374455 | TBC1D24 | c.85T>C (p.Cys29Arg) n.267T>C | gnomAD v4 |
16 | g.2496233T>G | CA394374456 | TBC1D24 | c.85T>G (p.Cys29Gly) n.267T>G | |
16 | g.2496234G>A | CA394374458 | TBC1D24 | c.86G>A (p.Cys29Tyr) n.268G>A | |
16 | g.2496234G>C | CA394374460 | TBC1D24 | c.86G>C (p.Cys29Ser) n.268G>C | |
16 | g.2496234G= | CA2202259693 | TBC1D24 | c.86G= (p.Cys29=) n.268G= | |
16 | g.2496234G>T | CA394374462 | TBC1D24 | c.86G>T (p.Cys29Phe) n.268G>T | ClinVar dbSNP |
16 | g.2496235C>A | CA394374464 | TBC1D24 | c.87C>A (p.Cys29Ter) n.269C>A | |
16 | g.2496235C= | CA2202259694 | TBC1D24 | c.87C= (p.Cys29=) n.269C= | |
16 | g.2496235C>G | CA394374467 | TBC1D24 | c.87C>G (p.Cys29Trp) n.269C>G | |
16 | g.2496235C>T | CA7843919 | TBC1D24 | c.87C>T (p.Cys29=) n.269C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496236A= | CA2202259695 | TBC1D24 | c.88A= (p.Thr30=) n.270A= | |
16 | g.2496236A>C | CA394374469 | TBC1D24 | c.88A>C (p.Thr30Pro) n.270A>C | |
16 | g.2496236A>G | CA394374471 | TBC1D24 | c.88A>G (p.Thr30Ala) n.270A>G | ClinVar dbSNP gnomAD v4 |
16 | g.2496236A>T | CA394374473 | TBC1D24 | c.88A>T (p.Thr30Ser) n.270A>T | |
16 | g.2496237C>A | CA394374475 | TBC1D24 | c.89C>A (p.Thr30Asn) n.271C>A | |
16 | g.2496237C= | CA2202259696 | TBC1D24 | c.89C= (p.Thr30=) n.271C= | |
16 | g.2496237C>G | CA394374478 | TBC1D24 | c.89C>G (p.Thr30Ser) n.271C>G | dbSNP |
16 | g.2496237C>T | CA7843920 | TBC1D24 | c.89C>T (p.Thr30Ile) n.271C>T | dbSNP ExAC gnomAD v4 |
16 | g.2496238T>A | CA493160406 | TBC1D24 | c.90T>A (p.Thr30=) n.272T>A | |
16 | g.2496238T>C | CA7843921 | TBC1D24 | c.90T>C (p.Thr30=) n.272T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496238T>G | CA493160411 | TBC1D24 | c.90T>G (p.Thr30=) n.272T>G | |
16 | g.2496238T= | CA2202259697 | TBC1D24 | c.90T= (p.Thr30=) n.272T= | |
16 | g.2496239G>A | CA394374482 | TBC1D24 | c.91G>A (p.Glu31Lys) n.273G>A | |
16 | g.2496239G>C | CA394374484 | TBC1D24 | c.91G>C (p.Glu31Gln) n.273G>C | |
16 | g.2496239G>T | CA394374486 | TBC1D24 | c.91G>T (p.Glu31Ter) n.273G>T | |
16 | g.2496240A>C | CA394374487 | TBC1D24 | c.92A>C (p.Glu31Ala) n.274A>C | |
16 | g.2496240A>G | CA394374488 | TBC1D24 | c.92A>G (p.Glu31Gly) n.274A>G | |
16 | g.2496240A>T | CA394374490 | TBC1D24 | c.92A>T (p.Glu31Val) n.274A>T | |
16 | g.2496241A>C | CA394374493 | TBC1D24 | c.93A>C (p.Glu31Asp) n.275A>C | |
16 | g.2496241A>G | CA493160417 | TBC1D24 | c.93A>G (p.Glu31=) n.275A>G | |
16 | g.2496241A>T | CA394374494 | TBC1D24 | c.93A>T (p.Glu31Asp) n.275A>T | |
16 | g.2496242C>A | CA394374495 | TBC1D24 | c.94C>A (p.Leu32Met) n.276C>A | |
16 | g.2496242C= | CA2202259698 | TBC1D24 | c.94C= (p.Leu32=) n.276C= | |
16 | g.2496242C>G | CA394374497 | TBC1D24 | c.94C>G (p.Leu32Val) n.276C>G | |
16 | g.2496242C>T | CA493160423 | TBC1D24 | c.94C>T (p.Leu32=) n.276C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496243T>A | CA394374498 | TBC1D24 | c.95T>A (p.Leu32Gln) n.277T>A | |
16 | g.2496243T>C | CA394374500 | TBC1D24 | c.95T>C (p.Leu32Pro) n.277T>C | |
16 | g.2496243T>G | CA394374502 | TBC1D24 | c.95T>G (p.Leu32Arg) n.277T>G | ClinVar dbSNP |
16 | g.2496244G>A | CA493160432 | TBC1D24 | c.96G>A (p.Leu32=) n.278G>A | |
16 | g.2496244G>C | CA493160437 | TBC1D24 | c.96G>C (p.Leu32=) n.278G>C | |
16 | g.2496244G= | CA2202259699 | TBC1D24 | c.96G= (p.Leu32=) n.278G= | |
16 | g.2496244G>T | CA276809608 | TBC1D24 | c.96G>T (p.Leu32=) n.278G>T | dbSNP gnomAD v4 |
16 | g.2496245C>A | CA394374504 | TBC1D24 | c.97C>A (p.Gln33Lys) n.279C>A | gnomAD v4 |
16 | g.2496245C= | CA2202259700 | TBC1D24 | c.97C= (p.Gln33=) n.279C= | |
16 | g.2496245C>G | CA394374506 | TBC1D24 | c.97C>G (p.Gln33Glu) n.279C>G | |
16 | g.2496245C>T | CA394374508 | TBC1D24 | c.97C>T (p.Gln33Ter) n.279C>T | dbSNP |
16 | g.2496246del | CA2631209043 | TBC1D24 | c.98del (p.Gln33ArgfsTer3) n.280del | gnomAD v4 |
16 | g.2496246A= | CA2202259701 | TBC1D24 | c.98A= (p.Gln33=) n.280A= | |
16 | g.2496246A>C | CA394374510 | TBC1D24 | c.98A>C (p.Gln33Pro) n.280A>C | dbSNP |
16 | g.2496246A>G | CA394374511 | TBC1D24 | c.98A>G (p.Gln33Arg) n.280A>G | gnomAD v4 |
16 | g.2496246A>T | CA394374512 | TBC1D24 | c.98A>T (p.Gln33Leu) n.280A>T | |
16 | g.2496247G>A | CA493160442 | TBC1D24 | c.99G>A (p.Gln33=) n.281G>A | |
16 | g.2496247G>C | CA394374516 | TBC1D24 | c.99G>C (p.Gln33His) n.281G>C | |
16 | g.2496247G= | CA2202259702 | TBC1D24 | c.99G= (p.Gln33=) n.281G= | |
16 | g.2496247G>T | CA394374514 | TBC1D24 | c.99G>T (p.Gln33His) n.281G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496248G>A | CA394374518 | TBC1D24 | c.100G>A (p.Glu34Lys) n.282G>A | |
16 | g.2496248G>C | CA394374522 | TBC1D24 | c.100G>C (p.Glu34Gln) n.282G>C | |
16 | g.2496248G>T | CA394374521 | TBC1D24 | c.100G>T (p.Glu34Ter) n.282G>T | |
16 | g.2496249A>C | CA394374523 | TBC1D24 | c.101A>C (p.Glu34Ala) n.283A>C | |
16 | g.2496249A>G | CA394374524 | TBC1D24 | c.101A>G (p.Glu34Gly) n.283A>G | |
16 | g.2496249A>T | CA394374525 | TBC1D24 | c.101A>T (p.Glu34Val) n.283A>T | |
16 | g.2496250A= | CA2202259703 | TBC1D24 | c.102A= (p.Glu34=) n.284A= | |
16 | g.2496250A>C | CA394374528 | TBC1D24 | c.102A>C (p.Glu34Asp) n.284A>C | |
16 | g.2496250A>G | CA493160453 | TBC1D24 | c.102A>G (p.Glu34=) n.284A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496250A>T | CA394374530 | TBC1D24 | c.102A>T (p.Glu34Asp) n.284A>T | |
16 | g.2496251C>A | CA394374533 | TBC1D24 | c.103C>A (p.Leu35Met) n.285C>A | |
16 | g.2496251C>G | CA394374535 | TBC1D24 | c.103C>G (p.Leu35Val) n.285C>G | |
16 | g.2496251C>T | CA493160457 | TBC1D24 | c.103C>T (p.Leu35=) n.285C>T | |
16 | g.2496252T>A | CA394374536 | TBC1D24 | c.104T>A (p.Leu35Gln) n.286T>A | |
16 | g.2496252T>C | CA394374538 | TBC1D24 | c.104T>C (p.Leu35Pro) n.286T>C | COSMIC |
16 | g.2496252T>G | CA394374540 | TBC1D24 | c.104T>G (p.Leu35Arg) n.286T>G | |
16 | g.2496253G>A | CA493366520 | TBC1D24 | c.105G>A (p.Leu35=) n.287G>A | gnomAD v4 |
16 | g.2496253G>C | CA493366522 | TBC1D24 | c.105G>C (p.Leu35=) n.287G>C | |
16 | g.2496253G>T | CA493366521 | TBC1D24 | c.105G>T (p.Leu35=) n.287G>T | |
16 | g.2496254A>C | CA394374542 | TBC1D24 | c.106A>C (p.Lys36Gln) n.288A>C | |
16 | g.2496254A>G | CA394374544 | TBC1D24 | c.106A>G (p.Lys36Glu) n.288A>G | |
16 | g.2496254A>T | CA394374546 | TBC1D24 | c.106A>T (p.Lys36Ter) n.288A>T | |
16 | g.2496255A>C | CA394374548 | TBC1D24 | c.107A>C (p.Lys36Thr) n.289A>C | |
16 | g.2496255A>G | CA394374552 | TBC1D24 | c.107A>G (p.Lys36Arg) n.289A>G | |
16 | g.2496255A>T | CA394374550 | TBC1D24 | c.107A>T (p.Lys36Met) n.289A>T | |
16 | g.2496256G>A | CA493366523 | TBC1D24 | c.108G>A (p.Lys36=) n.290G>A | gnomAD v4 |
16 | g.2496256G>C | CA394374554 | TBC1D24 | c.108G>C (p.Lys36Asn) n.290G>C | |
16 | g.2496256G>T | CA394374556 | TBC1D24 | c.108G>T (p.Lys36Asn) n.290G>T | |
16 | g.2496257C>A | CA394374558 | TBC1D24 | c.109C>A (p.Gln37Lys) n.291C>A | |
16 | g.2496257C>G | CA394374560 | TBC1D24 | c.109C>G (p.Gln37Glu) n.291C>G | |
16 | g.2496257C>T | CA394374562 | TBC1D24 | c.109C>T (p.Gln37Ter) n.291C>T | |
16 | g.2496258A>C | CA394374565 | TBC1D24 | c.110A>C (p.Gln37Pro) n.292A>C | |
16 | g.2496258A>G | CA394374567 | TBC1D24 | c.110A>G (p.Gln37Arg) n.292A>G | |
16 | g.2496258A>T | CA394374569 | TBC1D24 | c.110A>T (p.Gln37Leu) n.292A>T | |
16 | g.2496259G>A | CA493366524 | TBC1D24 | c.111G>A (p.Gln37=) n.293G>A | |
16 | g.2496259G>C | CA394374570 | TBC1D24 | c.111G>C (p.Gln37His) n.293G>C | |
16 | g.2496259G>T | CA394374571 | TBC1D24 | c.111G>T (p.Gln37His) n.293G>T | |
16 | g.2496260C>A | CA394374577 | TBC1D24 | c.112C>A (p.Leu38Met) n.294C>A | |
16 | g.2496260C>G | CA394374574 | TBC1D24 | c.112C>G (p.Leu38Val) n.294C>G | |
16 | g.2496260C>T | CA493366525 | TBC1D24 | c.112C>T (p.Leu38=) n.294C>T | |
16 | g.2496261T>A | CA394374579 | TBC1D24 | c.113T>A (p.Leu38Gln) n.295T>A | |
16 | g.2496261T>C | CA394374581 | TBC1D24 | c.113T>C (p.Leu38Pro) n.295T>C | |
16 | g.2496261T>G | CA394374583 | TBC1D24 | c.113T>G (p.Leu38Arg) n.295T>G | |
16 | g.2496262G>A | CA493366526 | TBC1D24 | c.114G>A (p.Leu38=) n.296G>A | |
16 | g.2496262G>C | CA493366527 | TBC1D24 | c.114G>C (p.Leu38=) n.296G>C | |
16 | g.2496262G>T | CA493366528 | TBC1D24 | c.114G>T (p.Leu38=) n.296G>T | |
16 | g.2496263G>A | CA7843922 | TBC1D24 | c.115G>A (p.Ala39Thr) n.297G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496263G>C | CA394374586 | TBC1D24 | c.115G>C (p.Ala39Pro) n.297G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496263G= | CA2202259704 | TBC1D24 | c.115G= (p.Ala39=) n.297G= | |
16 | g.2496263G>T | CA394374588 | TBC1D24 | c.115G>T (p.Ala39Ser) n.297G>T | |
16 | g.2496264C>A | CA7843923 | TBC1D24 | c.116C>A (p.Ala39Glu) n.298C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496264C= | CA2202259705 | TBC1D24 | c.116C= (p.Ala39=) n.298C= | |
16 | g.2496264C>G | CA394374590 | TBC1D24 | c.116C>G (p.Ala39Gly) n.298C>G | |
16 | g.2496264C>T | CA7843924 | TBC1D24 | c.116C>T (p.Ala39Val) n.298C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496265G>A | CA7843925 | TBC1D24 | c.117G>A (p.Ala39=) n.299G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496265G>C | CA493366529 | TBC1D24 | c.117G>C (p.Ala39=) n.299G>C | |
16 | g.2496265G= | CA2202259706 | TBC1D24 | c.117G= (p.Ala39=) n.299G= | |
16 | g.2496265G>T | CA493366530 | TBC1D24 | c.117G>T (p.Ala39=) n.299G>T | |
16 | g.2496266C>A | CA394374595 | TBC1D24 | c.118C>A (p.Arg40Ser) n.300C>A | |
16 | g.2496266C= | CA2202259707 | TBC1D24 | c.118C= (p.Arg40=) n.300C= | |
16 | g.2496266C>G | CA394374598 | TBC1D24 | c.118C>G (p.Arg40Gly) n.300C>G | dbSNP gnomAD v4 |
16 | g.2496266C>T | CA345418 | TBC1D24 | c.118C>T (p.Arg40Cys) n.300C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.2496267G>A | CA394374601 | TBC1D24 | c.119G>A (p.Arg40His) n.301G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496267G>C | CA7843926 | TBC1D24 | c.119G>C (p.Arg40Pro) n.301G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496267G= | CA2202259708 | TBC1D24 | c.119G= (p.Arg40=) n.301G= | |
16 | g.2496267G>T | CA347136 | TBC1D24 | c.119G>T (p.Arg40Leu) n.301G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496268C>A | CA493366531 | TBC1D24 | c.120C>A (p.Arg40=) n.302C>A | |
16 | g.2496268C>G | CA493366532 | TBC1D24 | c.120C>G (p.Arg40=) n.302C>G | |
16 | g.2496268C>T | CA493366533 | TBC1D24 | c.120C>T (p.Arg40=) n.302C>T | |
16 | g.2496269C>A | CA394374604 | TBC1D24 | c.121C>A (p.Gln41Lys) n.303C>A | |
16 | g.2496269C= | CA2202259709 | TBC1D24 | c.121C= (p.Gln41=) n.303C= | |
16 | g.2496269C>G | CA394374606 | TBC1D24 | c.121C>G (p.Gln41Glu) n.303C>G | |
16 | g.2496269C>T | CA16608135 | TBC1D24 | c.121C>T (p.Gln41Ter) n.303C>T | ClinVar dbSNP |
16 | g.2496270A>C | CA394374609 | TBC1D24 | c.122A>C (p.Gln41Pro) n.304A>C | |
16 | g.2496270A>G | CA394374610 | TBC1D24 | c.122A>G (p.Gln41Arg) n.304A>G | |
16 | g.2496270A>T | CA394374612 | TBC1D24 | c.122A>T (p.Gln41Leu) n.304A>T | |
16 | g.2496271G>A | CA493366534 | TBC1D24 | c.123G>A (p.Gln41=) n.305G>A | |
16 | g.2496271G>C | CA394374614 | TBC1D24 | c.123G>C (p.Gln41His) n.305G>C | |
16 | g.2496271G= | CA2202259710 | TBC1D24 | c.123G= (p.Gln41=) n.305G= | |
16 | g.2496271G>T | CA7843927 | TBC1D24 | c.123G>T (p.Gln41His) n.305G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496272G>A | CA394374618 | TBC1D24 | c.124G>A (p.Gly42Ser) n.306G>A | |
16 | g.2496272G>C | CA394374619 | TBC1D24 | c.124G>C (p.Gly42Arg) n.306G>C | |
16 | g.2496272G>T | CA394374620 | TBC1D24 | c.124G>T (p.Gly42Cys) n.306G>T | |
16 | g.2496273G>A | CA394374623 | TBC1D24 | c.125G>A (p.Gly42Asp) n.307G>A | gnomAD v4 |
16 | g.2496273G>C | CA394374625 | TBC1D24 | c.125G>C (p.Gly42Ala) n.307G>C | |
16 | g.2496273G>T | CA394374627 | TBC1D24 | c.125G>T (p.Gly42Val) n.307G>T | |
16 | g.2496274C>A | CA493366536 | TBC1D24 | c.126C>A (p.Gly42=) n.308C>A | |
16 | g.2496274C>G | CA493366537 | TBC1D24 | c.126C>G (p.Gly42=) n.308C>G | |
16 | g.2496274C>T | CA493366535 | TBC1D24 | c.126C>T (p.Gly42=) n.308C>T | |
16 | g.2496275T>A | CA394374632 | TBC1D24 | c.127T>A (p.Tyr43Asn) n.309T>A | |
16 | g.2496275T>C | CA394374634 | TBC1D24 | c.127T>C (p.Tyr43His) n.309T>C | |
16 | g.2496275T>G | CA394374630 | TBC1D24 | c.127T>G (p.Tyr43Asp) n.309T>G | |
16 | g.2496276A>C | CA394374640 | TBC1D24 | c.128A>C (p.Tyr43Ser) n.310A>C | gnomAD v4 |
16 | g.2496276A>G | CA394374636 | TBC1D24 | c.128A>G (p.Tyr43Cys) n.310A>G | |
16 | g.2496276A>T | CA394374638 | TBC1D24 | c.128A>T (p.Tyr43Phe) n.310A>T | |
16 | g.2496277C>A | CA394374642 | TBC1D24 | c.129C>A (p.Tyr43Ter) n.311C>A | |
16 | g.2496277C>G | CA394374644 | TBC1D24 | c.129C>G (p.Tyr43Ter) n.311C>G | |
16 | g.2496277C>T | CA493366538 | TBC1D24 | c.129C>T (p.Tyr43=) n.311C>T | |
16 | g.2496278T>A | CA394374647 | TBC1D24 | c.130T>A (p.Trp44Arg) n.312T>A | |
16 | g.2496278T>C | CA394374649 | TBC1D24 | c.130T>C (p.Trp44Arg) n.312T>C | ClinVar dbSNP |
16 | g.2496278T>G | CA394374651 | TBC1D24 | c.130T>G (p.Trp44Gly) n.312T>G | |
16 | g.2496278T= | CA2202259711 | TBC1D24 | c.130T= (p.Trp44=) n.312T= | |
16 | g.2496279G>A | CA394374654 | TBC1D24 | c.131G>A (p.Trp44Ter) n.313G>A | ClinVar dbSNP gnomAD v4 |
16 | g.2496279G>C | CA394374655 | TBC1D24 | c.131G>C (p.Trp44Ser) n.313G>C | |
16 | g.2496279G= | CA2202259712 | TBC1D24 | c.131G= (p.Trp44=) n.313G= | |
16 | g.2496279G>T | CA394374657 | TBC1D24 | c.131G>T (p.Trp44Leu) n.313G>T | |
16 | g.2496280G>A | CA7843928 | TBC1D24 | c.132G>A (p.Trp44Ter) n.314G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496280G>C | CA394374659 | TBC1D24 | c.132G>C (p.Trp44Cys) n.314G>C | dbSNP |
16 | g.2496280G= | CA2202259713 | TBC1D24 | c.132G= (p.Trp44=) n.314G= | |
16 | g.2496280G>T | CA394374661 | TBC1D24 | c.132G>T (p.Trp44Cys) n.314G>T | |
16 | g.2496281G>A | CA394374666 | TBC1D24 | c.133G>A (p.Ala45Thr) n.315G>A | |
16 | g.2496281G>C | CA394374664 | TBC1D24 | c.133G>C (p.Ala45Pro) n.315G>C | |
16 | g.2496281G>T | CA394374662 | TBC1D24 | c.133G>T (p.Ala45Ser) n.315G>T | gnomAD v4 |
16 | g.2496281_2496282delinsGC | CA2202259714 | TBC1D24 | c.133_134delinsGC (p.Ala45=) n.315_316delinsGC |