| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73644481_73644483delinsTTG | CA1638225547 | SLC17A5 | c.215_217delinsCAA (p.Thr72=) c.164_166delinsCAA (p.Thr55=) c.17_19delinsCAA (p.Thr6=) c.61-2559_61-2557delinsCAA (n.61-2559_61-2557delinsCAA) c.236_238delinsCAA (p.Thr79=) | |
| 6 | g.73644482_73644483delinsTG | CA1638225553 | SLC17A5 | c.215_216delinsCA (p.Thr72=) c.164_165delinsCA (p.Thr55=) c.17_18delinsCA (p.Thr6=) c.61-2559_61-2558delinsCA (n.61-2559_61-2558delinsCA) c.236_237delinsCA (p.Thr79=) | |
| 6 | g.73644483_73644484del | CA16041088 | SLC17A5 | c.215_216del (p.Thr72AsnfsTer5) c.164_165del (p.Thr55AsnfsTer5) c.17_18del (p.Thr6AsnfsTer5) c.61-2559_61-2558del (n.61-2559_61-2558del) c.236_237del (p.Thr79AsnfsTer5) | ClinVar dbSNP |
| 6 | g.73644483del | CA16041089 | SLC17A5 | c.215del (p.Thr72LysfsTer3) c.164del (p.Thr55LysfsTer3) c.17del (p.Thr6LysfsTer3) c.61-2559del (n.61-2559del) c.236del (p.Thr79LysfsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73644483G>A | CA364718960 | SLC17A5 | c.215C>T (p.Thr72Ile) c.164C>T (p.Thr55Ile) c.17C>T (p.Thr6Ile) c.61-2559C>T (n.61-2559C>T) c.236C>T (p.Thr79Ile) | |
| 6 | g.73644483G>C | CA364718962 | SLC17A5 | c.215C>G (p.Thr72Arg) c.164C>G (p.Thr55Arg) c.17C>G (p.Thr6Arg) c.61-2559C>G (n.61-2559C>G) c.236C>G (p.Thr79Arg) | |
| 6 | g.73644483G= | CA1638225554 | SLC17A5 | c.215C= (p.Thr72=) c.164C= (p.Thr55=) c.17C= (p.Thr6=) c.61-2559C= (n.61-2559C=) c.236C= (p.Thr79=) | |
| 6 | g.73644483G>T | CA3890591 | SLC17A5 | c.215C>A (p.Thr72Lys) c.164C>A (p.Thr55Lys) c.17C>A (p.Thr6Lys) c.61-2559C>A (n.61-2559C>A) c.236C>A (p.Thr79Lys) | dbSNP ExAC gnomAD v2 |
| 6 | g.73644484T>A | CA364718965 | SLC17A5 | c.214A>T (p.Thr72Ser) c.163A>T (p.Thr55Ser) c.16A>T (p.Thr6Ser) c.61-2560A>T (n.61-2560A>T) c.235A>T (p.Thr79Ser) | |
| 6 | g.73644484T>C | CA364718967 | SLC17A5 | c.214A>G (p.Thr72Ala) c.163A>G (p.Thr55Ala) c.16A>G (p.Thr6Ala) c.61-2560A>G (n.61-2560A>G) c.235A>G (p.Thr79Ala) | |
| 6 | g.73644484T>G | CA364718970 | SLC17A5 | c.214A>C (p.Thr72Pro) c.163A>C (p.Thr55Pro) c.16A>C (p.Thr6Pro) c.61-2560A>C (n.61-2560A>C) c.235A>C (p.Thr79Pro) | |
| 6 | g.73644485A= | CA1638225556 | SLC17A5 | c.213T= (p.Asn71=) c.162T= (p.Asn54=) c.15T= (p.Asn5=) c.61-2561T= (n.61-2561T=) c.234T= (p.Asn78=) | |
| 6 | g.73644485A>C | CA364718973 | SLC17A5 | c.213T>G (p.Asn71Lys) c.162T>G (p.Asn54Lys) c.15T>G (p.Asn5Lys) c.61-2561T>G (n.61-2561T>G) c.234T>G (p.Asn78Lys) | |
| 6 | g.73644485A>G | CA450912371 | SLC17A5 | c.213T>C (p.Asn71=) c.162T>C (p.Asn54=) c.15T>C (p.Asn5=) c.61-2561T>C (n.61-2561T>C) c.234T>C (p.Asn78=) | dbSNP gnomAD v4 |
| 6 | g.73644485A>T | CA364718975 | SLC17A5 | c.213T>A (p.Asn71Lys) c.162T>A (p.Asn54Lys) c.15T>A (p.Asn5Lys) c.61-2561T>A (n.61-2561T>A) c.234T>A (p.Asn78Lys) | |
| 6 | g.73644486T>A | CA364718984 | SLC17A5 | c.212A>T (p.Asn71Ile) c.161A>T (p.Asn54Ile) c.14A>T (p.Asn5Ile) c.61-2562A>T (n.61-2562A>T) c.233A>T (p.Asn78Ile) | |
| 6 | g.73644486T>C | CA364718978 | SLC17A5 | c.212A>G (p.Asn71Ser) c.161A>G (p.Asn54Ser) c.14A>G (p.Asn5Ser) c.61-2562A>G (n.61-2562A>G) c.233A>G (p.Asn78Ser) | |
| 6 | g.73644486T>G | CA364718981 | SLC17A5 | c.212A>C (p.Asn71Thr) c.161A>C (p.Asn54Thr) c.14A>C (p.Asn5Thr) c.61-2562A>C (n.61-2562A>C) c.233A>C (p.Asn78Thr) | |
| 6 | g.73644488dup | CA2548797610 | SLC17A5 | c.212dup (p.Asn71LysfsTer7) c.161dup (p.Asn54LysfsTer7) c.14dup (p.Asn5LysfsTer7) c.61-2562dup (n.61-2562dup) c.233dup (p.Asn78LysfsTer7) | |
| 6 | g.73644487T>A | CA364718988 | SLC17A5 | c.211A>T (p.Asn71Tyr) c.160A>T (p.Asn54Tyr) c.13A>T (p.Asn5Tyr) c.61-2563A>T (n.61-2563A>T) c.232A>T (p.Asn78Tyr) | |
| 6 | g.73644487T>C | CA364718990 | SLC17A5 | c.211A>G (p.Asn71Asp) c.160A>G (p.Asn54Asp) c.13A>G (p.Asn5Asp) c.61-2563A>G (n.61-2563A>G) c.232A>G (p.Asn78Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73644487T>G | CA364718991 | SLC17A5 | c.211A>C (p.Asn71His) c.160A>C (p.Asn54His) c.13A>C (p.Asn5His) c.61-2563A>C (n.61-2563A>C) c.232A>C (p.Asn78His) | |
| 6 | g.73644487T= | CA1638225559 | SLC17A5 | c.211A= (p.Asn71=) c.160A= (p.Asn54=) c.13A= (p.Asn5=) c.61-2563A= (n.61-2563A=) c.232A= (p.Asn78=) | |
| 6 | g.73644488_73644489insTTATCTATTGCAGTAACTGTACCATCTACATTTACTTGTCCTTTATTTTTAGCATAAGCAATTATTGCTCCATAGTTAACTGCCTCTGTTGTTCCCTTAGCATTAACTATACCTT | CA2507248564 | SLC17A5 | c.211_212insGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAATAGATAAAA (p.Asn71ArgfsTer4) c.160_161insGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAATAGATAAAA (p.Asn54ArgfsTer4) c.13_14insGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAATAGATAAAA (p.Asn5ArgfsTer4) c.61-2563_61-2562insGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAATAGATAAAA (n.61-2563_61-2562insGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAATAGATAAAA) c.232_233insGGTATAGTTAATGCTAAGGGAACAACAGAGGCAGTTAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGACAAGTAAATGTAGATGGTACAGTTACTGCAATAGATAAAA (p.Asn78ArgfsTer4) | |
| 6 | g.73644488T>A | CA450912372 | SLC17A5 | c.210A>T (p.Ser70=) c.159A>T (p.Ser53=) c.12A>T (p.Ser4=) c.61-2564A>T (n.61-2564A>T) c.231A>T (p.Ser77=) | |
| 6 | g.73644488T>C | CA450912373 | SLC17A5 | c.210A>G (p.Ser70=) c.159A>G (p.Ser53=) c.12A>G (p.Ser4=) c.61-2564A>G (n.61-2564A>G) c.231A>G (p.Ser77=) | |
| 6 | g.73644488T>G | CA450912374 | SLC17A5 | c.210A>C (p.Ser70=) c.159A>C (p.Ser53=) c.12A>C (p.Ser4=) c.61-2564A>C (n.61-2564A>C) c.231A>C (p.Ser77=) | |
| 6 | g.73644489G>A | CA364718994 | SLC17A5 | c.209C>T (p.Ser70Leu) c.158C>T (p.Ser53Leu) c.11C>T (p.Ser4Leu) c.61-2565C>T (n.61-2565C>T) c.230C>T (p.Ser77Leu) | |
| 6 | g.73644489G>C | CA364718997 | SLC17A5 | c.209C>G (p.Ser70Ter) c.158C>G (p.Ser53Ter) c.11C>G (p.Ser4Ter) c.61-2565C>G (n.61-2565C>G) c.230C>G (p.Ser77Ter) | |
| 6 | g.73644489G>T | CA364719000 | SLC17A5 | c.209C>A (p.Ser70Ter) c.158C>A (p.Ser53Ter) c.11C>A (p.Ser4Ter) c.61-2565C>A (n.61-2565C>A) c.230C>A (p.Ser77Ter) | gnomAD v4 |
| 6 | g.73644490A>C | CA364719005 | SLC17A5 | c.208T>G (p.Ser70Ala) c.157T>G (p.Ser53Ala) c.10T>G (p.Ser4Ala) c.61-2566T>G (n.61-2566T>G) c.229T>G (p.Ser77Ala) | COSMIC |
| 6 | g.73644490A>G | CA364719007 | SLC17A5 | c.208T>C (p.Ser70Pro) c.157T>C (p.Ser53Pro) c.10T>C (p.Ser4Pro) c.61-2566T>C (n.61-2566T>C) c.229T>C (p.Ser77Pro) | |
| 6 | g.73644490A>T | CA364719002 | SLC17A5 | c.208T>A (p.Ser70Thr) c.157T>A (p.Ser53Thr) c.10T>A (p.Ser4Thr) c.61-2566T>A (n.61-2566T>A) c.229T>A (p.Ser77Thr) | |
| 6 | g.73644490_73644491insTCTACTGCAGTAACTGTACCGTCTACAGTAACTTGCCCTTTATTTTTAGCATAAGCAATTATTGCTCCATAGTTGATAGCTTCAGTTGTTTTCTTAGCATTAACTATACCTTGATT | CA2545061158 | SLC17A5 | c.207_208insAATCAAGGTATAGTTAATGCTAAGAAAACAACTGAAGCTATCAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGGCAAGTTACTGTAGACGGTACAGTTACTGCAGTAGA (p.Ser70AsnfsTer44) c.156_157insAATCAAGGTATAGTTAATGCTAAGAAAACAACTGAAGCTATCAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGGCAAGTTACTGTAGACGGTACAGTTACTGCAGTAGA (p.Ser53AsnfsTer44) c.9_10insAATCAAGGTATAGTTAATGCTAAGAAAACAACTGAAGCTATCAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGGCAAGTTACTGTAGACGGTACAGTTACTGCAGTAGA (p.Ser4AsnfsTer44) c.61-2567_61-2566insAATCAAGGTATAGTTAATGCTAAGAAAACAACTGAAGCTATCAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGGCAAGTTACTGTAGACGGTACAGTTACTGCAGTAGA (n.61-2567_61-2566insAATCAAGGTATAGTTAATGCTAAGAAAACAACTGAAGCTATCAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGGCAAGTTACTGTAGACGGTACAGTTACTGCAGTAGA) c.228_229insAATCAAGGTATAGTTAATGCTAAGAAAACAACTGAAGCTATCAACTATGGAGCAATAATTGCTTATGCTAAAAATAAAGGGCAAGTTACTGTAGACGGTACAGTTACTGCAGTAGA (p.Ser77AsnfsTer44) | |
| 6 | g.73644491A= | CA1638225560 | SLC17A5 | c.207T= (p.Asp69=) c.156T= (p.Asp52=) c.9T= (p.Asp3=) c.61-2567T= (n.61-2567T=) c.228T= (p.Asp76=) | |
| 6 | g.73644491A>C | CA364719010 | SLC17A5 | c.207T>G (p.Asp69Glu) c.156T>G (p.Asp52Glu) c.9T>G (p.Asp3Glu) c.61-2567T>G (n.61-2567T>G) c.228T>G (p.Asp76Glu) | |
| 6 | g.73644491A>G | CA140977961 | SLC17A5 | c.207T>C (p.Asp69=) c.156T>C (p.Asp52=) c.9T>C (p.Asp3=) c.61-2567T>C (n.61-2567T>C) c.228T>C (p.Asp76=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73644491A>T | CA364719013 | SLC17A5 | c.207T>A (p.Asp69Glu) c.156T>A (p.Asp52Glu) c.9T>A (p.Asp3Glu) c.61-2567T>A (n.61-2567T>A) c.228T>A (p.Asp76Glu) | |
| 6 | g.73644492T>A | CA364719015 | SLC17A5 | c.206A>T (p.Asp69Val) c.155A>T (p.Asp52Val) c.8A>T (p.Asp3Val) c.61-2568A>T (n.61-2568A>T) c.227A>T (p.Asp76Val) | |
| 6 | g.73644492T>C | CA364719018 | SLC17A5 | c.206A>G (p.Asp69Gly) c.155A>G (p.Asp52Gly) c.8A>G (p.Asp3Gly) c.61-2568A>G (n.61-2568A>G) c.227A>G (p.Asp76Gly) | |
| 6 | g.73644492T>G | CA364719022 | SLC17A5 | c.206A>C (p.Asp69Ala) c.155A>C (p.Asp52Ala) c.8A>C (p.Asp3Ala) c.61-2568A>C (n.61-2568A>C) c.227A>C (p.Asp76Ala) | |
| 6 | g.73644493C>A | CA364719026 | SLC17A5 | c.205G>T (p.Asp69Tyr) c.154G>T (p.Asp52Tyr) c.7G>T (p.Asp3Tyr) c.61-2569G>T (n.61-2569G>T) c.226G>T (p.Asp76Tyr) | |
| 6 | g.73644493C>G | CA364719038 | SLC17A5 | c.205G>C (p.Asp69His) c.154G>C (p.Asp52His) c.7G>C (p.Asp3His) c.61-2569G>C (n.61-2569G>C) c.226G>C (p.Asp76His) | |
| 6 | g.73644493C>T | CA364719041 | SLC17A5 | c.205G>A (p.Asp69Asn) c.154G>A (p.Asp52Asn) c.7G>A (p.Asp3Asn) c.61-2569G>A (n.61-2569G>A) c.226G>A (p.Asp76Asn) | |
| 6 | g.73644493_73644494delinsCT | CA1638225563 | SLC17A5 | c.204_205delinsAG (p.Val68=) c.153_154delinsAG (p.Val51=) c.6_7delinsAG (p.Val2=) c.61-2570_61-2569delinsAG (n.61-2570_61-2569delinsAG) c.225_226delinsAG (p.Val75=) | |
| 6 | g.73644494del | CA16041090 | SLC17A5 | c.204del (p.Asp69IlefsTer6) c.153del (p.Asp52IlefsTer6) c.6del (p.Asp3IlefsTer6) c.61-2570del (n.61-2570del) c.225del (p.Asp76IlefsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73644494T>A | CA450912378 | SLC17A5 | c.204A>T (p.Val68=) c.153A>T (p.Val51=) c.6A>T (p.Val2=) c.61-2570A>T (n.61-2570A>T) c.225A>T (p.Val75=) | |
| 6 | g.73644494T>C | CA450912379 | SLC17A5 | c.204A>G (p.Val68=) c.153A>G (p.Val51=) c.6A>G (p.Val2=) c.61-2570A>G (n.61-2570A>G) c.225A>G (p.Val75=) | |
| 6 | g.73644494T>G | CA450912380 | SLC17A5 | c.204A>C (p.Val68=) c.153A>C (p.Val51=) c.6A>C (p.Val2=) c.61-2570A>C (n.61-2570A>C) c.225A>C (p.Val75=) | |
| 6 | g.73644495A>C | CA364719047 | SLC17A5 | c.203T>G (p.Val68Gly) c.152T>G (p.Val51Gly) c.5T>G (p.Val2Gly) c.61-2571T>G (n.61-2571T>G) c.224T>G (p.Val75Gly) |