RGD:8633079 Rat Genome Database

RGD:8633079 Rat Genome Database

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Variant: RGD:8633079 - Homo sapiens

RGD ID:

8633079

ClinVar ID:

CV88292

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

EYA1

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	8	72,267,025
GRCh38	8	71,354,790

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_000503.5:c.116G>A NG_011735.2:g.12443G>A NC_000008.11:g.71354790C>T NC_000008.10:g.72267025C>T More...		5 prime utr variant\|intron\|intron variant\|missense\|missense variant	not provided	Malignant melanoma, somatic

Variant Details

Variant Transcripts

Gene Symbol:	EYA1
Accession:	NM_001288575
Location:	5UTRS;EXON

Gene Symbol:	EYA1
Accession:	NM_172058
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	39

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTH QFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQ TGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYM TSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSD LERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLS TYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLT LALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEE EQGAKKHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	NM_001370333
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPRGINGQSVQTSQASSDVAVSSSCRSMEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSE TASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPG QPYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSS QQDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSD SDRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLAD THLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNN VGGLLGPAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATK IGKESCFERIIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	XM_011517484
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPRGINGQSVQTSQASSDVAVSSSCRSMEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSE TASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPG QPYGISSYGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYP SYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLR RGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFF NDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLL GPAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKES CFERIIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	XM_047421524
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPRGINGQSVQTSQASSDVAVSSSCRSMEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSE TASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSKPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQ PYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQ QDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDS DRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRECDQVHIDDVSSDDNGQDLSTY NFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLA LKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEEQ GAKKHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	NM_001370335
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	39

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTH QFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQ TGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYM TSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSD LERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLS TYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLT LALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEE EQGAKKHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	XM_047421521
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPRGINGQSVQTSQASSDVAVSSSCRSMEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSE TASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPG QPYGISSYGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYP SYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLR RGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFF NDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLL GPAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKES CFERIIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	XM_047421526
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	39

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTH QFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGIKTEGGLSQSQSPGQTGFLS YGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNT SPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVF IWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFG TDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKA LSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEEQGAK KHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	NM_001370334
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	39

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTH QFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQ TGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYM TSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSD LERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLS TYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLT LALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEE EQGAKKHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	XM_047421525
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	39

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTH QFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGIKTEGGLSQSQSPGQTGFLS YGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNT SPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVF IWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFG TDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKA LSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEEQGAK KHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	XM_047421520
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	64

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTAPARKVQTSQASSDVAVSSSCRSMEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSETAST TADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYG ISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDY PSYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRL RRGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLF FNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGL LGPAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKE SCFERIIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	NM_000503
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	39

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTH QFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQ TGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYM TSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSD LERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLS TYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLT LALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEE EQGAKKHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	XM_017013202
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPRGINGQSVQTSQASSDVAVSSSCRSMEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSE TASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPG QPYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSS QQDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSD SDRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLAD THLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNN VGGLLGPAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATK IGKESCFERIIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	XM_047421519
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPRGINGQSVQTSQASSDVAVSSSCRSMEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSE TASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSKPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQ PYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQ QDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDS DRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADT HLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNV GGLLGPAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKI GKESCFERIIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	XM_047421523
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPRGINGQSVQTSQASSDVAVSSSCRSMEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSE TASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPG QPYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSS QQDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSD SDRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRECDQVHIDDVSSDDNGQDLST YNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTL ALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEE QGAKKHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	XM_047421529
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	39

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTH QFSPPQIYPSKPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQT GFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYMT SSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSDL ERVFIWDLDETIIVFHSLLTGSYANRYGRECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCLATGVRGGVDWM RKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAK VLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEY L*

Gene Symbol:	EYA1
Accession:	NM_172059
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPRGINGQSVQTSQASSDVAVSSSCRSMEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSE TASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPG QPYGISSYGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYP SYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLR RGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRECDQVHIDDVSSDDNGQDLSTYNFGT DGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKAL SLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEEQGAKK HAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	NM_001370336
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPRGINGQSVQTSQASSDVAVSSSCRSMEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSE TASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSKPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQ PYGISSYGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPS YPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRR GSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRECDQVHIDDVSSDDNGQDLSTYNFGTD GFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKALS LIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEEQGAKKH AMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	NM_001288574
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	39

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTH QFSPPQIYPSKPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGIKTEGGLSQSQSPGQTGFLSY GTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNTS PTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVFI WDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGT DGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKAL SLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEEQGAKK HAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	XM_017013208
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	39

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTH QFSPPQIYPSKPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQT GFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYMT SSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSDL ERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLST YNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTL ALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEE QGAKKHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	XM_047421522
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPRGINGQSVQTSQASSDVAVSSSCRSMEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNDTEVKTEPMSSSE TASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSKPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQ PYGISSYGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPS YPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRR GSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFN DLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLG PAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESC FERIIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL*

Gene Symbol:	EYA1
Accession:	XM_047421530
Location:	INTRON

Gene Symbol:	EYA1
Accession:	NM_001411797
Location:	INTRON

Gene Symbol:	EYA1
Accession:	XM_047421527
Location:	INTRON

Gene Symbol:	EYA1
Accession:	NM_172060
Location:	INTRON

Gene Symbol:	EYA1
Accession:	XM_017013213
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	EYA1
Accession:	XM_047421528
Location:	INTRON

Variant Samples