Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
6 | g.7582934_7587655del | CA2695202641 | |||
6 | g.7585816_7585817dup | CA2825001491 | DSP | c.7225_7226dup (p.Thr2410ProfsTer?) c.8554_8555dup (p.Thr2853ProfsTer?) c.6757_6758dup (p.Thr2254ProfsTer?) | ClinVar |
6 | g.7585817C>A | CA362695372 | DSP | c.7226C>A (p.Ala2409Asp) c.8555C>A (p.Ala2852Asp) c.6758C>A (p.Ala2253Asp) | |
6 | g.7585817C>G | CA362695373 | DSP | c.7226C>G (p.Ala2409Gly) c.8555C>G (p.Ala2852Gly) c.6758C>G (p.Ala2253Gly) | |
6 | g.7585817C>T | CA362695374 | DSP | c.7226C>T (p.Ala2409Val) c.8555C>T (p.Ala2852Val) c.6758C>T (p.Ala2253Val) | |
6 | g.7585818C>A | CA448531293 | DSP | c.7227C>A (p.Ala2409=) c.8556C>A (p.Ala2852=) c.6759C>A (p.Ala2253=) | |
6 | g.7585818C= | CA1608616076 | DSP | c.7227C= (p.Ala2409=) c.8556C= (p.Ala2852=) c.6759C= (p.Ala2253=) | |
6 | g.7585818C>G | CA448531294 | DSP | c.7227C>G (p.Ala2409=) c.8556C>G (p.Ala2852=) c.6759C>G (p.Ala2253=) | |
6 | g.7585818C>T | CA448531295 | DSP | c.7227C>T (p.Ala2409=) c.8556C>T (p.Ala2852=) c.6759C>T (p.Ala2253=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585819A= | CA1608616080 | DSP | c.7228A= (p.Thr2410=) c.8557A= (p.Thr2853=) c.6760A= (p.Thr2254=) | |
6 | g.7585819A>C | CA133978316 | DSP | c.7228A>C (p.Thr2410Pro) c.8557A>C (p.Thr2853Pro) c.6760A>C (p.Thr2254Pro) | dbSNP |
6 | g.7585819A>G | CA362695375 | DSP | c.7228A>G (p.Thr2410Ala) c.8557A>G (p.Thr2853Ala) c.6760A>G (p.Thr2254Ala) | |
6 | g.7585819A>T | CA362695376 | DSP | c.7228A>T (p.Thr2410Ser) c.8557A>T (p.Thr2853Ser) c.6760A>T (p.Thr2254Ser) | gnomAD v4 |
6 | g.7585820C>A | CA362695379 | DSP | c.7229C>A (p.Thr2410Lys) c.8558C>A (p.Thr2853Lys) c.6761C>A (p.Thr2254Lys) | |
6 | g.7585820C>G | CA362695378 | DSP | c.7229C>G (p.Thr2410Arg) c.8558C>G (p.Thr2853Arg) c.6761C>G (p.Thr2254Arg) | gnomAD v4 |
6 | g.7585820C>T | CA362695377 | DSP | c.7229C>T (p.Thr2410Ile) c.8558C>T (p.Thr2853Ile) c.6761C>T (p.Thr2254Ile) | ClinVar |
6 | g.7585821A= | CA1608616088 | DSP | c.7230A= (p.Thr2410=) c.8559A= (p.Thr2853=) c.6762A= (p.Thr2254=) | |
6 | g.7585821A>C | CA448531296 | DSP | c.7230A>C (p.Thr2410=) c.8559A>C (p.Thr2853=) c.6762A>C (p.Thr2254=) | ClinVar dbSNP gnomAD v4 |
6 | g.7585821A>G | CA448531297 | DSP | c.7230A>G (p.Thr2410=) c.8559A>G (p.Thr2853=) c.6762A>G (p.Thr2254=) | ClinVar dbSNP |
6 | g.7585821A>T | CA448531298 | DSP | c.7230A>T (p.Thr2410=) c.8559A>T (p.Thr2853=) c.6762A>T (p.Thr2254=) | |
6 | g.7585822G>A | CA362695380 | DSP | c.7231G>A (p.Gly2411Arg) c.8560G>A (p.Gly2854Arg) c.6763G>A (p.Gly2255Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585822G>C | CA052774 | DSP | c.7231G>C (p.Gly2411Arg) c.8560G>C (p.Gly2854Arg) c.6763G>C (p.Gly2255Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585822G= | CA1608616101 | DSP | c.7231G= (p.Gly2411=) c.8560G= (p.Gly2854=) c.6763G= (p.Gly2255=) | |
6 | g.7585822G>T | CA362695381 | DSP | c.7231G>T (p.Gly2411Trp) c.8560G>T (p.Gly2854Trp) c.6763G>T (p.Gly2255Trp) | |
6 | g.7585823G>A | CA133978331 | DSP | c.7232G>A (p.Gly2411Glu) c.8561G>A (p.Gly2854Glu) c.6764G>A (p.Gly2255Glu) | dbSNP |
6 | g.7585823G>C | CA362695382 | DSP | c.7232G>C (p.Gly2411Ala) c.8561G>C (p.Gly2854Ala) c.6764G>C (p.Gly2255Ala) | |
6 | g.7585823G= | CA1608616108 | DSP | c.7232G= (p.Gly2411=) c.8561G= (p.Gly2854=) c.6764G= (p.Gly2255=) | |
6 | g.7585823G>T | CA362695383 | DSP | c.7232G>T (p.Gly2411Val) c.8561G>T (p.Gly2854Val) c.6764G>T (p.Gly2255Val) | |
6 | g.7585824G>A | CA448531299 | DSP | c.7233G>A (p.Gly2411=) c.8562G>A (p.Gly2854=) c.6765G>A (p.Gly2255=) | |
6 | g.7585824G>C | CA448531300 | DSP | c.7233G>C (p.Gly2411=) c.8562G>C (p.Gly2854=) c.6765G>C (p.Gly2255=) | |
6 | g.7585824G>T | CA448531301 | DSP | c.7233G>T (p.Gly2411=) c.8562G>T (p.Gly2854=) c.6765G>T (p.Gly2255=) | |
6 | g.7585825A>C | CA362695384 | DSP | c.7234A>C (p.Asn2412His) c.8563A>C (p.Asn2855His) c.6766A>C (p.Asn2256His) | |
6 | g.7585825A>G | CA362695385 | DSP | c.7234A>G (p.Asn2412Asp) c.8563A>G (p.Asn2855Asp) c.6766A>G (p.Asn2256Asp) | gnomAD v4 |
6 | g.7585825A>T | CA362695386 | DSP | c.7234A>T (p.Asn2412Tyr) c.8563A>T (p.Asn2855Tyr) c.6766A>T (p.Asn2256Tyr) | |
6 | g.7585826A= | CA1608616114 | DSP | c.7235A= (p.Asn2412=) c.8564A= (p.Asn2855=) c.6767A= (p.Asn2256=) | |
6 | g.7585826A>C | CA362695388 | DSP | c.7235A>C (p.Asn2412Thr) c.8564A>C (p.Asn2855Thr) c.6767A>C (p.Asn2256Thr) | |
6 | g.7585826A>G | CA362695387 | DSP | c.7235A>G (p.Asn2412Ser) c.8564A>G (p.Asn2855Ser) c.6767A>G (p.Asn2256Ser) | |
6 | g.7585826A>T | CA052787 | DSP | c.7235A>T (p.Asn2412Ile) c.8564A>T (p.Asn2855Ile) c.6767A>T (p.Asn2256Ile) | dbSNP ExAC gnomAD v2 |
6 | g.7585827T>A | CA362695389 | DSP | c.7236T>A (p.Asn2412Lys) c.8565T>A (p.Asn2855Lys) c.6768T>A (p.Asn2256Lys) | |
6 | g.7585827T>C | CA448531302 | DSP | c.7236T>C (p.Asn2412=) c.8565T>C (p.Asn2855=) c.6768T>C (p.Asn2256=) | |
6 | g.7585827T>G | CA362695390 | DSP | c.7236T>G (p.Asn2412Lys) c.8565T>G (p.Asn2855Lys) c.6768T>G (p.Asn2256Lys) | ClinVar gnomAD v4 |
6 | g.7585828T>A | CA052797 | DSP | c.7237T>A (p.Ser2413Thr) c.8566T>A (p.Ser2856Thr) c.6769T>A (p.Ser2257Thr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.7585828T>C | CA362695391 | DSP | c.7237T>C (p.Ser2413Pro) c.8566T>C (p.Ser2856Pro) c.6769T>C (p.Ser2257Pro) | |
6 | g.7585828T>G | CA362695392 | DSP | c.7237T>G (p.Ser2413Ala) c.8566T>G (p.Ser2856Ala) c.6769T>G (p.Ser2257Ala) | |
6 | g.7585828T= | CA1608616119 | DSP | c.7237T= (p.Ser2413=) c.8566T= (p.Ser2856=) c.6769T= (p.Ser2257=) | |
6 | g.7585829C>A | CA362695395 | DSP | c.7238C>A (p.Ser2413Tyr) c.8567C>A (p.Ser2856Tyr) c.6770C>A (p.Ser2257Tyr) | gnomAD v4 |
6 | g.7585829C= | CA1608616124 | DSP | c.7238C= (p.Ser2413=) c.8567C= (p.Ser2856=) c.6770C= (p.Ser2257=) | |
6 | g.7585829C>G | CA362695393 | DSP | c.7238C>G (p.Ser2413Cys) c.8567C>G (p.Ser2856Cys) c.6770C>G (p.Ser2257Cys) | COSMIC |
6 | g.7585829C>T | CA362695394 | DSP | c.7238C>T (p.Ser2413Phe) c.8567C>T (p.Ser2856Phe) c.6770C>T (p.Ser2257Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.7585830T>A | CA448531303 | DSP | c.7239T>A (p.Ser2413=) c.8568T>A (p.Ser2856=) c.6771T>A (p.Ser2257=) | |
6 | g.7585830T>C | CA448531304 | DSP | c.7239T>C (p.Ser2413=) c.8568T>C (p.Ser2856=) c.6771T>C (p.Ser2257=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585830T>G | CA448531305 | DSP | c.7239T>G (p.Ser2413=) c.8568T>G (p.Ser2856=) c.6771T>G (p.Ser2257=) | |
6 | g.7585830T= | CA1608616128 | DSP | c.7239T= (p.Ser2413=) c.8568T= (p.Ser2856=) c.6771T= (p.Ser2257=) | |
6 | g.7585839_7585850del | CA2573140826 | DSP | c.7248_7259del (p.Tyr2417_Ser2420del) c.8577_8588del (p.Tyr2860_Ser2863del) c.6780_6791del (p.Tyr2261_Ser2264del) | ClinVar dbSNP gnomAD v4 |
6 | g.7585831T>A | CA362695396 | DSP | c.7240T>A (p.Ser2414Thr) c.8569T>A (p.Ser2857Thr) c.6772T>A (p.Ser2258Thr) | |
6 | g.7585831T>C | CA362695397 | DSP | c.7240T>C (p.Ser2414Pro) c.8569T>C (p.Ser2857Pro) c.6772T>C (p.Ser2258Pro) | |
6 | g.7585831T>G | CA362695398 | DSP | c.7240T>G (p.Ser2414Ala) c.8569T>G (p.Ser2857Ala) c.6772T>G (p.Ser2258Ala) | |
6 | g.7585832C>A | CA052803 | DSP | c.7241C>A (p.Ser2414Tyr) c.8570C>A (p.Ser2857Tyr) c.6773C>A (p.Ser2258Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585832C= | CA1608616143 | DSP | c.7241C= (p.Ser2414=) c.8570C= (p.Ser2857=) c.6773C= (p.Ser2258=) | |
6 | g.7585832C>G | CA362695399 | DSP | c.7241C>G (p.Ser2414Cys) c.8570C>G (p.Ser2857Cys) c.6773C>G (p.Ser2258Cys) | |
6 | g.7585832C>T | CA362695400 | DSP | c.7241C>T (p.Ser2414Phe) c.8570C>T (p.Ser2857Phe) c.6773C>T (p.Ser2258Phe) | |
6 | g.7585833C>A | CA448531308 | DSP | c.7242C>A (p.Ser2414=) c.8571C>A (p.Ser2857=) c.6774C>A (p.Ser2258=) | |
6 | g.7585833C>G | CA448531307 | DSP | c.7242C>G (p.Ser2414=) c.8571C>G (p.Ser2857=) c.6774C>G (p.Ser2258=) | |
6 | g.7585833C>T | CA448531306 | DSP | c.7242C>T (p.Ser2414=) c.8571C>T (p.Ser2857=) c.6774C>T (p.Ser2258=) | |
6 | g.7585834T>A | CA362695401 | DSP | c.7243T>A (p.Tyr2415Asn) c.8572T>A (p.Tyr2858Asn) c.6775T>A (p.Tyr2259Asn) | |
6 | g.7585834T>C | CA362695402 | DSP | c.7243T>C (p.Tyr2415His) c.8572T>C (p.Tyr2858His) c.6775T>C (p.Tyr2259His) | |
6 | g.7585834T>G | CA362695403 | DSP | c.7243T>G (p.Tyr2415Asp) c.8572T>G (p.Tyr2858Asp) c.6775T>G (p.Tyr2259Asp) | |
6 | g.7585835A= | CA1608616160 | DSP | c.7244A= (p.Tyr2415=) c.8573A= (p.Tyr2858=) c.6776A= (p.Tyr2259=) | |
6 | g.7585835A>C | CA362695404 | DSP | c.7244A>C (p.Tyr2415Ser) c.8573A>C (p.Tyr2858Ser) c.6776A>C (p.Tyr2259Ser) | |
6 | g.7585835A>G | CA362695405 | DSP | c.7244A>G (p.Tyr2415Cys) c.8573A>G (p.Tyr2858Cys) c.6776A>G (p.Tyr2259Cys) | ClinVar dbSNP gnomAD v4 |
6 | g.7585835A>T | CA362695406 | DSP | c.7244A>T (p.Tyr2415Phe) c.8573A>T (p.Tyr2858Phe) c.6776A>T (p.Tyr2259Phe) | |
6 | g.7585835_7585837delinsACT | CA1608616152 | DSP | c.7244_7246delinsACT (p.Tyr2415=) c.8573_8575delinsACT (p.Tyr2858=) c.6776_6778delinsACT (p.Tyr2259=) | |
6 | g.7585836C>A | CA362695407 | DSP | c.7245C>A (p.Tyr2415Ter) c.8574C>A (p.Tyr2858Ter) c.6777C>A (p.Tyr2259Ter) | |
6 | g.7585836C>G | CA362695408 | DSP | c.7245C>G (p.Tyr2415Ter) c.8574C>G (p.Tyr2858Ter) c.6777C>G (p.Tyr2259Ter) | |
6 | g.7585836C>T | CA448531309 | DSP | c.7245C>T (p.Tyr2415=) c.8574C>T (p.Tyr2858=) c.6777C>T (p.Tyr2259=) | |
6 | g.7585838_7585839del | CA007739 | DSP | c.7247_7248del (p.Ser2416LeufsTer6) c.8576_8577del (p.Ser2859LeufsTer6) c.6779_6780del (p.Ser2260LeufsTer6) | ClinVar dbSNP |
6 | g.7585837T>A | CA362695411 | DSP | c.7246T>A (p.Ser2416Thr) c.8575T>A (p.Ser2859Thr) c.6778T>A (p.Ser2260Thr) | |
6 | g.7585837T>C | CA362695409 | DSP | c.7246T>C (p.Ser2416Pro) c.8575T>C (p.Ser2859Pro) c.6778T>C (p.Ser2260Pro) | |
6 | g.7585837T>G | CA362695410 | DSP | c.7246T>G (p.Ser2416Ala) c.8575T>G (p.Ser2859Ala) c.6778T>G (p.Ser2260Ala) | |
6 | g.7585838C>A | CA362695412 | DSP | c.7247C>A (p.Ser2416Tyr) c.8576C>A (p.Ser2859Tyr) c.6779C>A (p.Ser2260Tyr) | |
6 | g.7585838C= | CA1608616170 | DSP | c.7247C= (p.Ser2416=) c.8576C= (p.Ser2859=) c.6779C= (p.Ser2260=) | |
6 | g.7585838C>G | CA133978378 | DSP | c.7247C>G (p.Ser2416Cys) c.8576C>G (p.Ser2859Cys) c.6779C>G (p.Ser2260Cys) | dbSNP gnomAD v4 |
6 | g.7585838C>T | CA362695413 | DSP | c.7247C>T (p.Ser2416Phe) c.8576C>T (p.Ser2859Phe) c.6779C>T (p.Ser2260Phe) | |
6 | g.7585839T>A | CA448531310 | DSP | c.7248T>A (p.Ser2416=) c.8577T>A (p.Ser2859=) c.6780T>A (p.Ser2260=) | |
6 | g.7585839T>C | CA448531312 | DSP | c.7248T>C (p.Ser2416=) c.8577T>C (p.Ser2859=) c.6780T>C (p.Ser2260=) | |
6 | g.7585839T>G | CA448531311 | DSP | c.7248T>G (p.Ser2416=) c.8577T>G (p.Ser2859=) c.6780T>G (p.Ser2260=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585839T= | CA1608616178 | DSP | c.7248T= (p.Ser2416=) c.8577T= (p.Ser2859=) c.6780T= (p.Ser2260=) | |
6 | g.7585840T>A | CA362695414 | DSP | c.7249T>A (p.Tyr2417Asn) c.8578T>A (p.Tyr2860Asn) c.6781T>A (p.Tyr2261Asn) | |
6 | g.7585840T>C | CA362695415 | DSP | c.7249T>C (p.Tyr2417His) c.8578T>C (p.Tyr2860His) c.6781T>C (p.Tyr2261His) | |
6 | g.7585840T>G | CA362695416 | DSP | c.7249T>G (p.Tyr2417Asp) c.8578T>G (p.Tyr2860Asp) c.6781T>G (p.Tyr2261Asp) | |
6 | g.7585841A>C | CA362695417 | DSP | c.7250A>C (p.Tyr2417Ser) c.8579A>C (p.Tyr2860Ser) c.6782A>C (p.Tyr2261Ser) | |
6 | g.7585841A>G | CA362695418 | DSP | c.7250A>G (p.Tyr2417Cys) c.8579A>G (p.Tyr2860Cys) c.6782A>G (p.Tyr2261Cys) | ClinVar |
6 | g.7585841A>T | CA362695419 | DSP | c.7250A>T (p.Tyr2417Phe) c.8579A>T (p.Tyr2860Phe) c.6782A>T (p.Tyr2261Phe) | |
6 | g.7585844_7585853del | CA2516181884 | DSP | c.7253_7262del (p.Ser2418LeufsTer19) c.8582_8591del (p.Ser2861LeufsTer19) c.6785_6794del (p.Ser2262LeufsTer19) | ClinVar |
6 | g.7585842T>A | CA362695421 | DSP | c.7251T>A (p.Tyr2417Ter) c.8580T>A (p.Tyr2860Ter) c.6783T>A (p.Tyr2261Ter) | |
6 | g.7585842T>C | CA052814 | DSP | c.7251T>C (p.Tyr2417=) c.8580T>C (p.Tyr2860=) c.6783T>C (p.Tyr2261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585842T>G | CA362695420 | DSP | c.7251T>G (p.Tyr2417Ter) c.8580T>G (p.Tyr2860Ter) c.6783T>G (p.Tyr2261Ter) | |
6 | g.7585842T= | CA1608616190 | DSP | c.7251T= (p.Tyr2417=) c.8580T= (p.Tyr2860=) c.6783T= (p.Tyr2261=) | |
6 | g.7585843T>A | CA362695422 | DSP | c.7252T>A (p.Ser2418Thr) c.8581T>A (p.Ser2861Thr) c.6784T>A (p.Ser2262Thr) | |
6 | g.7585843T>C | CA362695423 | DSP | c.7252T>C (p.Ser2418Pro) c.8581T>C (p.Ser2861Pro) c.6784T>C (p.Ser2262Pro) | |
6 | g.7585843T>G | CA362695424 | DSP | c.7252T>G (p.Ser2418Ala) c.8581T>G (p.Ser2861Ala) c.6784T>G (p.Ser2262Ala) | |
6 | g.7585843_7585844delinsTC | CA1608616199 | DSP | c.7252_7253delinsTC (p.Ser2418=) c.8581_8582delinsTC (p.Ser2861=) c.6784_6785delinsTC (p.Ser2262=) | |
6 | g.7585844C>A | CA362695425 | DSP | c.7253C>A (p.Ser2418Tyr) c.8582C>A (p.Ser2861Tyr) c.6785C>A (p.Ser2262Tyr) | gnomAD v4 COSMIC |
6 | g.7585844C= | CA1608616204 | DSP | c.7253C= (p.Ser2418=) c.8582C= (p.Ser2861=) c.6785C= (p.Ser2262=) | |
6 | g.7585844C>G | CA362695426 | DSP | c.7253C>G (p.Ser2418Cys) c.8582C>G (p.Ser2861Cys) c.6785C>G (p.Ser2262Cys) | gnomAD v4 |
6 | g.7585844C>T | CA362695427 | DSP | c.7253C>T (p.Ser2418Phe) c.8582C>T (p.Ser2861Phe) c.6785C>T (p.Ser2262Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.7585845del | CA052825 | DSP | c.7254del (p.Tyr2419ThrfsTer21) c.8583del (p.Tyr2862ThrfsTer21) c.6786del (p.Tyr2263ThrfsTer21) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585845C>A | CA448531313 | DSP | c.7254C>A (p.Ser2418=) c.8583C>A (p.Ser2861=) c.6786C>A (p.Ser2262=) | |
6 | g.7585845C= | CA1608616213 | DSP | c.7254C= (p.Ser2418=) c.8583C= (p.Ser2861=) c.6786C= (p.Ser2262=) | |
6 | g.7585845C>G | CA448531314 | DSP | c.7254C>G (p.Ser2418=) c.8583C>G (p.Ser2861=) c.6786C>G (p.Ser2262=) | |
6 | g.7585845C>T | CA052840 | DSP | c.7254C>T (p.Ser2418=) c.8583C>T (p.Ser2861=) c.6786C>T (p.Ser2262=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585846T>A | CA362695428 | DSP | c.7255T>A (p.Tyr2419Asn) c.8584T>A (p.Tyr2862Asn) c.6787T>A (p.Tyr2263Asn) | |
6 | g.7585846T>C | CA362695429 | DSP | c.7255T>C (p.Tyr2419His) c.8584T>C (p.Tyr2862His) c.6787T>C (p.Tyr2263His) | |
6 | g.7585846T>G | CA362695430 | DSP | c.7255T>G (p.Tyr2419Asp) c.8584T>G (p.Tyr2862Asp) c.6787T>G (p.Tyr2263Asp) | |
6 | g.7585847A>C | CA362695433 | DSP | c.7256A>C (p.Tyr2419Ser) c.8585A>C (p.Tyr2862Ser) c.6788A>C (p.Tyr2263Ser) | |
6 | g.7585847A>G | CA362695432 | DSP | c.7256A>G (p.Tyr2419Cys) c.8585A>G (p.Tyr2862Cys) c.6788A>G (p.Tyr2263Cys) | |
6 | g.7585847A>T | CA362695431 | DSP | c.7256A>T (p.Tyr2419Phe) c.8585A>T (p.Tyr2862Phe) c.6788A>T (p.Tyr2263Phe) | |
6 | g.7585848del | CA2695206021 | DSP | c.7257del (p.Ser2420HisfsTer20) c.8586del (p.Ser2863HisfsTer20) c.6789del (p.Ser2264HisfsTer20) | |
6 | g.7585848C>A | CA362695435 | DSP | c.7257C>A (p.Tyr2419Ter) c.8586C>A (p.Tyr2862Ter) c.6789C>A (p.Tyr2263Ter) | |
6 | g.7585848C>G | CA362695434 | DSP | c.7257C>G (p.Tyr2419Ter) c.8586C>G (p.Tyr2862Ter) c.6789C>G (p.Tyr2263Ter) | |
6 | g.7585848C>T | CA448531315 | DSP | c.7257C>T (p.Tyr2419=) c.8586C>T (p.Tyr2862=) c.6789C>T (p.Tyr2263=) | ClinVar gnomAD v4 |
6 | g.7585849T>A | CA362695438 | DSP | c.7258T>A (p.Ser2420Thr) c.8587T>A (p.Ser2863Thr) c.6790T>A (p.Ser2264Thr) | |
6 | g.7585849T>C | CA362695436 | DSP | c.7258T>C (p.Ser2420Pro) c.8587T>C (p.Ser2863Pro) c.6790T>C (p.Ser2264Pro) | gnomAD v4 |
6 | g.7585849T>G | CA362695437 | DSP | c.7258T>G (p.Ser2420Ala) c.8587T>G (p.Ser2863Ala) c.6790T>G (p.Ser2264Ala) | |
6 | g.7585850C>A | CA362695439 | DSP | c.7259C>A (p.Ser2420Ter) c.8588C>A (p.Ser2863Ter) c.6791C>A (p.Ser2264Ter) | |
6 | g.7585850C= | CA1608616219 | DSP | c.7259C= (p.Ser2420=) c.8588C= (p.Ser2863=) c.6791C= (p.Ser2264=) | |
6 | g.7585850C>G | CA362695440 | DSP | c.7259C>G (p.Ser2420Ter) c.8588C>G (p.Ser2863Ter) c.6791C>G (p.Ser2264Ter) | |
6 | g.7585850C>T | CA362695441 | DSP | c.7259C>T (p.Ser2420Leu) c.8588C>T (p.Ser2863Leu) c.6791C>T (p.Ser2264Leu) | ClinVar dbSNP gnomAD v4 |
6 | g.7585851A>C | CA448531316 | DSP | c.7260A>C (p.Ser2420=) c.8589A>C (p.Ser2863=) c.6792A>C (p.Ser2264=) | |
6 | g.7585851A>G | CA448531317 | DSP | c.7260A>G (p.Ser2420=) c.8589A>G (p.Ser2863=) c.6792A>G (p.Ser2264=) | |
6 | g.7585851A>T | CA448531318 | DSP | c.7260A>T (p.Ser2420=) c.8589A>T (p.Ser2863=) c.6792A>T (p.Ser2264=) | |
6 | g.7585852T>A | CA362695442 | DSP | c.7261T>A (p.Phe2421Ile) c.8590T>A (p.Phe2864Ile) c.6793T>A (p.Phe2265Ile) | |
6 | g.7585852T>C | CA052847 | DSP | c.7261T>C (p.Phe2421Leu) c.8590T>C (p.Phe2864Leu) c.6793T>C (p.Phe2265Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585852T>G | CA362695443 | DSP | c.7261T>G (p.Phe2421Val) c.8590T>G (p.Phe2864Val) c.6793T>G (p.Phe2265Val) | |
6 | g.7585852T= | CA1608616225 | DSP | c.7261T= (p.Phe2421=) c.8590T= (p.Phe2864=) c.6793T= (p.Phe2265=) | |
6 | g.7585853T>A | CA362695444 | DSP | c.7262T>A (p.Phe2421Tyr) c.8591T>A (p.Phe2864Tyr) c.6794T>A (p.Phe2265Tyr) | ClinVar dbSNP gnomAD v4 |
6 | g.7585853T>C | CA362695445 | DSP | c.7262T>C (p.Phe2421Ser) c.8591T>C (p.Phe2864Ser) c.6794T>C (p.Phe2265Ser) | |
6 | g.7585853T>G | CA362695446 | DSP | c.7262T>G (p.Phe2421Cys) c.8591T>G (p.Phe2864Cys) c.6794T>G (p.Phe2265Cys) | |
6 | g.7585853T= | CA1608616228 | DSP | c.7262T= (p.Phe2421=) c.8591T= (p.Phe2864=) c.6794T= (p.Phe2265=) | |
6 | g.7585854T>A | CA362695447 | DSP | c.7263T>A (p.Phe2421Leu) c.8592T>A (p.Phe2864Leu) c.6795T>A (p.Phe2265Leu) | |
6 | g.7585854T>C | CA448531319 | DSP | c.7263T>C (p.Phe2421=) c.8592T>C (p.Phe2864=) c.6795T>C (p.Phe2265=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585854T>G | CA362695448 | DSP | c.7263T>G (p.Phe2421Leu) c.8592T>G (p.Phe2864Leu) c.6795T>G (p.Phe2265Leu) | |
6 | g.7585854T= | CA1608616232 | DSP | c.7263T= (p.Phe2421=) c.8592T= (p.Phe2864=) c.6795T= (p.Phe2265=) | |
6 | g.7585855A>C | CA362695449 | DSP | c.7264A>C (p.Ser2422Arg) c.8593A>C (p.Ser2865Arg) c.6796A>C (p.Ser2266Arg) | |
6 | g.7585855A>G | CA362695451 | DSP | c.7264A>G (p.Ser2422Gly) c.8593A>G (p.Ser2865Gly) c.6796A>G (p.Ser2266Gly) | |
6 | g.7585855A>T | CA362695450 | DSP | c.7264A>T (p.Ser2422Cys) c.8593A>T (p.Ser2865Cys) c.6796A>T (p.Ser2266Cys) | |
6 | g.7585856G>A | CA362695452 | DSP | c.7265G>A (p.Ser2422Asn) c.8594G>A (p.Ser2865Asn) c.6797G>A (p.Ser2266Asn) | |
6 | g.7585856G>C | CA362695453 | DSP | c.7265G>C (p.Ser2422Thr) c.8594G>C (p.Ser2865Thr) c.6797G>C (p.Ser2266Thr) | |
6 | g.7585856G>T | CA362695454 | DSP | c.7265G>T (p.Ser2422Ile) c.8594G>T (p.Ser2865Ile) c.6797G>T (p.Ser2266Ile) | |
6 | g.7585857C>A | CA362695455 | DSP | c.7266C>A (p.Ser2422Arg) c.8595C>A (p.Ser2865Arg) c.6798C>A (p.Ser2266Arg) | |
6 | g.7585857C= | CA1608616236 | DSP | c.7266C= (p.Ser2422=) c.8595C= (p.Ser2865=) c.6798C= (p.Ser2266=) | |
6 | g.7585857C>G | CA362695456 | DSP | c.7266C>G (p.Ser2422Arg) c.8595C>G (p.Ser2865Arg) c.6798C>G (p.Ser2266Arg) | dbSNP gnomAD v4 |
6 | g.7585857C>T | CA448531320 | DSP | c.7266C>T (p.Ser2422=) c.8595C>T (p.Ser2865=) c.6798C>T (p.Ser2266=) | gnomAD v3 gnomAD v4 |
6 | g.7585857_7585860delinsCAGT | CA1608616235 | DSP | c.7266_7269delinsCAGT (p.Ser2422=) c.8595_8598delinsCAGT (p.Ser2865=) c.6798_6801delinsCAGT (p.Ser2266=) | |
6 | g.7585858A>C | CA362695457 | DSP | c.7267A>C (p.Ser2423Arg) c.8596A>C (p.Ser2866Arg) c.6799A>C (p.Ser2267Arg) | |
6 | g.7585858A>G | CA362695458 | DSP | c.7267A>G (p.Ser2423Gly) c.8596A>G (p.Ser2866Gly) c.6799A>G (p.Ser2267Gly) | |
6 | g.7585858A>T | CA362695459 | DSP | c.7267A>T (p.Ser2423Cys) c.8596A>T (p.Ser2866Cys) c.6799A>T (p.Ser2267Cys) | gnomAD v4 |
6 | g.7585861_7585863del | CA828147543 | DSP | c.7270_7272del (p.Ser2424del) c.8599_8601del (p.Ser2867del) c.6802_6804del (p.Ser2268del) | ClinVar dbSNP |
6 | g.7585859G>A | CA362695460 | DSP | c.7268G>A (p.Ser2423Asn) c.8597G>A (p.Ser2866Asn) c.6800G>A (p.Ser2267Asn) | |
6 | g.7585859G>C | CA362695461 | DSP | c.7268G>C (p.Ser2423Thr) c.8597G>C (p.Ser2866Thr) c.6800G>C (p.Ser2267Thr) | |
6 | g.7585859G>T | CA362695462 | DSP | c.7268G>T (p.Ser2423Ile) c.8597G>T (p.Ser2866Ile) c.6800G>T (p.Ser2267Ile) | |
6 | g.7585860T>A | CA362695464 | DSP | c.7269T>A (p.Ser2423Arg) c.8598T>A (p.Ser2866Arg) c.6801T>A (p.Ser2267Arg) | |
6 | g.7585860T>C | CA133978395 | DSP | c.7269T>C (p.Ser2423=) c.8598T>C (p.Ser2866=) c.6801T>C (p.Ser2267=) | ClinVar dbSNP gnomAD v4 |
6 | g.7585860T>G | CA362695463 | DSP | c.7269T>G (p.Ser2423Arg) c.8598T>G (p.Ser2866Arg) c.6801T>G (p.Ser2267Arg) | |
6 | g.7585860T= | CA1608616243 | DSP | c.7269T= (p.Ser2423=) c.8598T= (p.Ser2866=) c.6801T= (p.Ser2267=) | |
6 | g.7585861A>C | CA362695465 | DSP | c.7270A>C (p.Ser2424Arg) c.8599A>C (p.Ser2867Arg) c.6802A>C (p.Ser2268Arg) | |
6 | g.7585861A>G | CA362695467 | DSP | c.7270A>G (p.Ser2424Gly) c.8599A>G (p.Ser2867Gly) c.6802A>G (p.Ser2268Gly) | |
6 | g.7585861A>T | CA362695466 | DSP | c.7270A>T (p.Ser2424Cys) c.8599A>T (p.Ser2867Cys) c.6802A>T (p.Ser2268Cys) | |
6 | g.7585862G>A | CA362695468 | DSP | c.7271G>A (p.Ser2424Asn) c.8600G>A (p.Ser2867Asn) c.6803G>A (p.Ser2268Asn) | |
6 | g.7585862G>C | CA362695469 | DSP | c.7271G>C (p.Ser2424Thr) c.8600G>C (p.Ser2867Thr) c.6803G>C (p.Ser2268Thr) | |
6 | g.7585862G>T | CA362695470 | DSP | c.7271G>T (p.Ser2424Ile) c.8600G>T (p.Ser2867Ile) c.6803G>T (p.Ser2268Ile) | gnomAD v4 |
6 | g.7585863T>A | CA362695471 | DSP | c.7272T>A (p.Ser2424Arg) c.8601T>A (p.Ser2867Arg) c.6804T>A (p.Ser2268Arg) | |
6 | g.7585863T>C | CA448531321 | DSP | c.7272T>C (p.Ser2424=) c.8601T>C (p.Ser2867=) c.6804T>C (p.Ser2268=) | ClinVar dbSNP gnomAD v2 |
6 | g.7585863T>G | CA362695472 | DSP | c.7272T>G (p.Ser2424Arg) c.8601T>G (p.Ser2867Arg) c.6804T>G (p.Ser2268Arg) | |
6 | g.7585863T= | CA1608616252 | DSP | c.7272T= (p.Ser2424=) c.8601T= (p.Ser2867=) c.6804T= (p.Ser2268=) | |
6 | g.7585864T>A | CA362695473 | DSP | c.7273T>A (p.Ser2425Thr) c.8602T>A (p.Ser2868Thr) c.6805T>A (p.Ser2269Thr) | ClinVar dbSNP gnomAD v4 |
6 | g.7585864T>C | CA362695474 | DSP | c.7273T>C (p.Ser2425Pro) c.8602T>C (p.Ser2868Pro) c.6805T>C (p.Ser2269Pro) | |
6 | g.7585864T>G | CA362695475 | DSP | c.7273T>G (p.Ser2425Ala) c.8602T>G (p.Ser2868Ala) c.6805T>G (p.Ser2269Ala) | |
6 | g.7585864T= | CA1608616254 | DSP | c.7273T= (p.Ser2425=) c.8602T= (p.Ser2868=) c.6805T= (p.Ser2269=) | |
6 | g.7585865C>A | CA362695476 | DSP | c.7274C>A (p.Ser2425Tyr) c.8603C>A (p.Ser2868Tyr) c.6806C>A (p.Ser2269Tyr) | dbSNP |
6 | g.7585865C= | CA1608616260 | DSP | c.7274C= (p.Ser2425=) c.8603C= (p.Ser2868=) c.6806C= (p.Ser2269=) | |
6 | g.7585865C>G | CA362695477 | DSP | c.7274C>G (p.Ser2425Cys) c.8603C>G (p.Ser2868Cys) c.6806C>G (p.Ser2269Cys) | |
6 | g.7585865C>T | CA362695478 | DSP | c.7274C>T (p.Ser2425Phe) c.8603C>T (p.Ser2868Phe) c.6806C>T (p.Ser2269Phe) | gnomAD v4 |
6 | g.7585866T>A | CA448531322 | DSP | c.7275T>A (p.Ser2425=) c.8604T>A (p.Ser2868=) c.6807T>A (p.Ser2269=) | |
6 | g.7585866T>C | CA448531323 | DSP | c.7275T>C (p.Ser2425=) c.8604T>C (p.Ser2868=) c.6807T>C (p.Ser2269=) | |
6 | g.7585866T>G | CA448531324 | DSP | c.7275T>G (p.Ser2425=) c.8604T>G (p.Ser2868=) c.6807T>G (p.Ser2269=) | |
6 | g.7585867A= | CA1608616268 | DSP | c.7276A= (p.Ile2426=) c.8605A= (p.Ile2869=) c.6808A= (p.Ile2270=) | |
6 | g.7585867A>C | CA362695480 | DSP | c.7276A>C (p.Ile2426Leu) c.8605A>C (p.Ile2869Leu) c.6808A>C (p.Ile2270Leu) | gnomAD v4 |
6 | g.7585867A>G | CA007748 | DSP | c.7276A>G (p.Ile2426Val) c.8605A>G (p.Ile2869Val) c.6808A>G (p.Ile2270Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585867A>T | CA362695479 | DSP | c.7276A>T (p.Ile2426Phe) c.8605A>T (p.Ile2869Phe) c.6808A>T (p.Ile2270Phe) | ClinVar |
6 | g.7585868T>A | CA362695481 | DSP | c.7277T>A (p.Ile2426Asn) c.8606T>A (p.Ile2869Asn) c.6809T>A (p.Ile2270Asn) | |
6 | g.7585868T>C | CA362695482 | DSP | c.7277T>C (p.Ile2426Thr) c.8606T>C (p.Ile2869Thr) c.6809T>C (p.Ile2270Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585868T>G | CA362695483 | DSP | c.7277T>G (p.Ile2426Ser) c.8606T>G (p.Ile2869Ser) c.6809T>G (p.Ile2270Ser) | |
6 | g.7585868T= | CA1608616274 | DSP | c.7277T= (p.Ile2426=) c.8606T= (p.Ile2869=) c.6809T= (p.Ile2270=) | |
6 | g.7585869T>A | CA448531325 | DSP | c.7278T>A (p.Ile2426=) c.8607T>A (p.Ile2869=) c.6810T>A (p.Ile2270=) | |
6 | g.7585869T>C | CA448531326 | DSP | c.7278T>C (p.Ile2426=) c.8607T>C (p.Ile2869=) c.6810T>C (p.Ile2270=) | |
6 | g.7585869T>G | CA362695484 | DSP | c.7278T>G (p.Ile2426Met) c.8607T>G (p.Ile2869Met) c.6810T>G (p.Ile2270Met) | |
6 | g.7585870G>A | CA362695485 | DSP | c.7279G>A (p.Gly2427Arg) c.8608G>A (p.Gly2870Arg) c.6811G>A (p.Gly2271Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585870G>C | CA362695486 | DSP | c.7279G>C (p.Gly2427Arg) c.8608G>C (p.Gly2870Arg) c.6811G>C (p.Gly2271Arg) | |
6 | g.7585870G= | CA1608616278 | DSP | c.7279G= (p.Gly2427=) c.8608G= (p.Gly2870=) c.6811G= (p.Gly2271=) | |
6 | g.7585870G>T | CA362695487 | DSP | c.7279G>T (p.Gly2427Trp) c.8608G>T (p.Gly2870Trp) c.6811G>T (p.Gly2271Trp) | |
6 | g.7585871G>A | CA362695488 | DSP | c.7280G>A (p.Gly2427Glu) c.8609G>A (p.Gly2870Glu) c.6812G>A (p.Gly2271Glu) | COSMIC |
6 | g.7585871G>C | CA362695489 | DSP | c.7280G>C (p.Gly2427Ala) c.8609G>C (p.Gly2870Ala) c.6812G>C (p.Gly2271Ala) | |
6 | g.7585871G>T | CA362695490 | DSP | c.7280G>T (p.Gly2427Val) c.8609G>T (p.Gly2870Val) c.6812G>T (p.Gly2271Val) | |
6 | g.7585872G>A | CA133978444 | DSP | c.7281G>A (p.Gly2427=) c.8610G>A (p.Gly2870=) c.6813G>A (p.Gly2271=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585872G>C | CA448531328 | DSP | c.7281G>C (p.Gly2427=) c.8610G>C (p.Gly2870=) c.6813G>C (p.Gly2271=) | |
6 | g.7585872G= | CA1608616290 | DSP | c.7281G= (p.Gly2427=) c.8610G= (p.Gly2870=) c.6813G= (p.Gly2271=) | |
6 | g.7585872G>T | CA448531329 | DSP | c.7281G>T (p.Gly2427=) c.8610G>T (p.Gly2870=) c.6813G>T (p.Gly2271=) | |
6 | g.7585873C>A | CA362695491 | DSP | c.7282C>A (p.His2428Asn) c.8611C>A (p.His2871Asn) c.6814C>A (p.His2272Asn) | |
6 | g.7585873C>G | CA362695492 | DSP | c.7282C>G (p.His2428Asp) c.8611C>G (p.His2871Asp) c.6814C>G (p.His2272Asp) | |
6 | g.7585873C>T | CA362695493 | DSP | c.7282C>T (p.His2428Tyr) c.8611C>T (p.His2871Tyr) c.6814C>T (p.His2272Tyr) | ClinVar |
6 | g.7585874A= | CA1608616297 | DSP | c.7283A= (p.His2428=) c.8612A= (p.His2871=) c.6815A= (p.His2272=) | |
6 | g.7585874A>C | CA362695495 | DSP | c.7283A>C (p.His2428Pro) c.8612A>C (p.His2871Pro) c.6815A>C (p.His2272Pro) | |
6 | g.7585874A>G | CA362695496 | DSP | c.7283A>G (p.His2428Arg) c.8612A>G (p.His2871Arg) c.6815A>G (p.His2272Arg) | |
6 | g.7585874A>T | CA362695494 | DSP | c.7283A>T (p.His2428Leu) c.8612A>T (p.His2871Leu) c.6815A>T (p.His2272Leu) | dbSNP |
6 | g.7585875C>A | CA362695497 | DSP | c.7284C>A (p.His2428Gln) c.8613C>A (p.His2871Gln) c.6816C>A (p.His2272Gln) | |
6 | g.7585875C>G | CA362695498 | DSP | c.7284C>G (p.His2428Gln) c.8613C>G (p.His2871Gln) c.6816C>G (p.His2272Gln) | COSMIC |
6 | g.7585875C>T | CA448531330 | DSP | c.7284C>T (p.His2428=) c.8613C>T (p.His2871=) c.6816C>T (p.His2272=) | |
6 | g.7585876T>A | CA362695499 | DSP | c.7285T>A (p.Ter2429Lys) c.8614T>A (p.Ter2872Lys) c.6817T>A (p.Ter2273Lys) | |
6 | g.7585876T>C | CA362695501 | DSP | c.7285T>C (p.Ter2429Gln) c.8614T>C (p.Ter2872Gln) c.6817T>C (p.Ter2273Gln) | |
6 | g.7585876T>G | CA362695500 | DSP | c.7285T>G (p.Ter2429Glu) c.8614T>G (p.Ter2872Glu) c.6817T>G (p.Ter2273Glu) | |
6 | g.7585877A>C | CA362695502 | DSP | c.7286A>C (p.Ter2429Ser) c.8615A>C (p.Ter2872Ser) c.6818A>C (p.Ter2273Ser) | |
6 | g.7585877A>G | CA362695503 | DSP | c.7286A>G (p.Ter2429Trp) c.8615A>G (p.Ter2872Trp) c.6818A>G (p.Ter2273Trp) | gnomAD v4 |
6 | g.7585877A>T | CA362695504 | DSP | c.7286A>T (p.Ter2429Leu) c.8615A>T (p.Ter2872Leu) c.6818A>T (p.Ter2273Leu) | |
6 | g.7585878G>A | CA448531331 | DSP | c.7287G>A (p.Ter2429=) c.8616G>A (p.Ter2872=) c.6819G>A (p.Ter2273=) | dbSNP gnomAD v4 |
6 | g.7585878G>C | CA362695505 | DSP | c.7287G>C (p.Ter2429Tyr) c.8616G>C (p.Ter2872Tyr) c.6819G>C (p.Ter2273Tyr) | |
6 | g.7585878G= | CA1608616309 | DSP | c.7287G= (p.Ter2429=) c.8616G= (p.Ter2872=) c.6819G= (p.Ter2273=) | |
6 | g.7585878G>T | CA362695506 | DSP | c.7287G>T (p.Ter2429Tyr) c.8616G>T (p.Ter2872Tyr) c.6819G>T (p.Ter2273Tyr) | |
6 | g.7585879T>C | CA1085707386 | DSP | c.*1T>C (n.*1T>C) | dbSNP |
6 | g.7585879T= | CA1608616314 | DSP | c.*1T= (n.*1T=) | |
6 | g.7585879_7585883delinsTAGTC | CA1608616313 | DSP | c.*1_*5delinsTAGTC (n.*1_*5delinsTAGTC) | |
6 | g.7585880A= | CA1608616317 | DSP | c.*2A= (n.*2A=) | |
6 | g.7585880A>G | CA2677222505 | DSP | c.*2A>G (n.*2A>G) | ClinVar gnomAD v4 |
6 | g.7585880A>T | CA133978495 | DSP | c.*2A>T (n.*2A>T) | dbSNP |
6 | g.7585883_7585886del | CA1085707389 | DSP | c.*5_*8del (n.*5_*8del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585881G>A | CA2677222509 | DSP | c.*3G>A (n.*3G>A) | gnomAD v4 |
6 | g.7585882T>G | CA2677222512 | DSP | c.*4T>G (n.*4T>G) | gnomAD v4 |
6 | g.7585883_7585884dup | CA2825001492 | DSP | c.*5_*6dup (n.*5_*6dup) | ClinVar |
6 | g.7585887T>A | CA007916 | DSP | c.*9T>A (n.*9T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585887T>C | CA2581539034 | DSP | c.*9T>C (n.*9T>C) | |
6 | g.7585887T>G | CA2581539033 | DSP | c.*9T>G (n.*9T>G) | |
6 | g.7585887T= | CA1608616325 | DSP | c.*9T= (n.*9T=) | |
6 | g.7585889G>A | CA828147613 | DSP | c.*11G>A (n.*11G>A) | dbSNP |
6 | g.7585889G= | CA1608616327 | DSP | c.*11G= (n.*11G=) | |
6 | g.7585891A>G | CA2677222518 | DSP | c.*13A>G (n.*13A>G) | gnomAD v4 |
6 | g.7585892G>A | CA828147614 | DSP | c.*14G>A (n.*14G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585892G= | CA1608616330 | DSP | c.*14G= (n.*14G=) | |
6 | g.7585893T>C | CA565105986 | DSP | c.*15T>C (n.*15T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585893T= | CA1608616334 | DSP | c.*15T= (n.*15T=) | |
6 | g.7585894G= | CA1608616340 | DSP | c.*16G= (n.*16G=) | |
6 | g.7585894G>T | CA029339 | DSP | c.*16G>T (n.*16G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585896T>C | CA133978530 | DSP | c.*18T>C (n.*18T>C) | dbSNP gnomAD v4 |
6 | g.7585896T= | CA1608616344 | DSP | c.*18T= (n.*18T=) | |
6 | g.7585898G>C | CA133978531 | DSP | c.*20G>C (n.*20G>C) | dbSNP gnomAD v4 |
6 | g.7585898G= | CA1608616347 | DSP | c.*20G= (n.*20G=) | |
6 | g.7585899C= | CA1608616353 | DSP | c.*21C= (n.*21C=) | |
6 | g.7585899C>G | CA032189 | DSP | c.*21C>G (n.*21C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585899C>T | CA1608616355 | DSP | c.*21C>T (n.*21C>T) | dbSNP |
6 | g.7585901A= | CA1608616357 | DSP | c.*23A= (n.*23A=) | |
6 | g.7585901A>G | CA565105988 | DSP | c.*23A>G (n.*23A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585902T>C | CA2677222541 | DSP | c.*24T>C (n.*24T>C) | gnomAD v4 |
6 | g.7585903A= | CA1608616359 | DSP | c.*25A= (n.*25A=) | |
6 | g.7585903A>T | CA828147623 | DSP | c.*25A>T (n.*25A>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585904C>A | CA828147627 | DSP | c.*26C>A (n.*26C>A) | dbSNP gnomAD v4 |
6 | g.7585904C= | CA1608616362 | DSP | c.*26C= (n.*26C=) | |
6 | g.7585904C>T | CA133978534 | DSP | c.*26C>T (n.*26C>T) | dbSNP gnomAD v4 |
6 | g.7585905C>A | CA2841094046 | DSP | c.*27C>A (n.*27C>A) | |
6 | g.7585905C>G | CA2769904237 | DSP | c.*27C>G (n.*27C>G) | |
6 | g.7585908_7585912del | CA2677222549 | DSP | c.*30_*34del (n.*30_*34del) | gnomAD v4 |
6 | g.7585908G>T | CA2677222550 | DSP | c.*30G>T (n.*30G>T) | gnomAD v4 |
6 | g.7585910C>A | CA2677222551 | DSP | c.*32C>A (n.*32C>A) | gnomAD v4 |
6 | g.7585910C>G | CA2677222552 | DSP | c.*32C>G (n.*32C>G) | gnomAD v4 |
6 | g.7585912T>C | CA1608616373 | DSP | c.*34T>C (n.*34T>C) | dbSNP gnomAD v4 |
6 | g.7585912T= | CA1608616368 | DSP | c.*34T= (n.*34T=) | |
6 | g.7585913C>A | CA2677222554 | DSP | c.*35C>A (n.*35C>A) | gnomAD v4 |
6 | g.7585914A>G | CA2677222555 | DSP | c.*36A>G (n.*36A>G) | gnomAD v4 |
6 | g.7585916T>A | CA2677222556 | DSP | c.*38T>A (n.*38T>A) | gnomAD v4 |
6 | g.7585917T>C | CA039761 | DSP | c.*39T>C (n.*39T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.7585917T= | CA1608616380 | DSP | c.*39T= (n.*39T=) |